Journal of Genetic Counseling

, Volume 17, Issue 1, pp 30–63

How Risk is Perceived, Constructed and Interpreted by Clients in Clinical Genetics, and the Effects on Decision Making: Systematic Review

Authors

    • Department of Primary Care and Public HealthSchool of Medicine, Cardiff University
  • Glyn Elwyn
    • Department of Primary Care and Public HealthSchool of Medicine, Cardiff University
  • Clara L. Gaff
    • Institute of Medical GeneticsSchool of Medicine, Cardiff University
  • Angus J. Clarke
    • Institute of Medical GeneticsSchool of Medicine, Cardiff University
  • Rachel Iredale
    • Institute of Medical GeneticsSchool of Medicine, Cardiff University
  • Chris Shaw
    • Faculty of Health, Sport and ScienceUniversity of Glamorgan
  • Joanna Dundon
    • Gwent Healthcare NHS Trust
  • Hazel Thornton
    • Department of Health SciencesUniversity of Leicester
  • Adrian Edwards
    • Department of Primary Care and Public HealthSchool of Medicine, Cardiff University
Original Research

DOI: 10.1007/s10897-007-9132-1

Cite this article as:
Sivell, S., Elwyn, G., Gaff, C.L. et al. J Genet Counsel (2008) 17: 30. doi:10.1007/s10897-007-9132-1

Abstract

As an individual’s understanding of their genetic risk may influence risk management decisions, it is important to understand the ways in which risk is constructed and interpreted. We systematically reviewed the literature, undertaking a narrative synthesis of 59 studies presenting data on the ways in which individuals perceive, construct and interpret their risk, and the subsequent effects. While most studies assessed perceived risk quantitatively, the combined evidence suggests individuals find risk difficult to accurately quantify, with a tendency to overestimate. Rather than being a stand-alone concept, risk is something lived and experienced and the process of constructing risk is complex and influenced by many factors. While evidence of the effects of perceived risk is limited and inconsistent, there is some evidence to suggest high risk estimations may adversely affect health and lead to inappropriate uptake of medical surveillance and preventative measures by some individuals. A more focused approach to research is needed with greater exploration of the ways in which risk is constructed, along with the development of stronger theoretical models, to facilitate effective and patient-centered counseling strategies.

Keywords

Genetic counselingRisk communicationRisk perceptionDecision makingRisk managementSystematic review

Introduction

Genetic counseling has been defined as the “process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease” (Resta et al.2006, p.77) a key component of which is to provide risk information and risk management options (Hallowell et al.1997). Risk communication is described as the open two-way exchange of information and opinion about risk, leading to better understanding and better (clinical) decisions (Ahl et al.1993, p.1047). It is important to understand the ways in which individuals construct and understand their genetic risk, and the subsequent impact this may have in order to provide effective patient-centered counseling. Healthcare generally is increasingly focusing on prevention and individuals are informed of their risks with a view to reducing that risk (Bowen et al.2004). This emphasis on risk reduction is reflected in the growth of cancer genetics risk assessment. As we move from genetics to genomics in medicine and public health (Khoury 2003), our understanding of diseases continues to improve and this in turn will lead to better health interventions—both preventive and therapeutic (Janssens et al.2006). To be successfully implemented however, effective risk communication strategies are required. There is a long tradition of risk communication in general, pediatric and prenatal genetics practice (Harper 2004). However, if individuals are to use risk information effectively in health management decisions, genetic information will increasingly need to be communicated outside genetic services and potentially to a wider proportion of the population and not just those determined to be high-risk due to their family history (Khoury 2003).

Risk perceptions are complex and influenced by many factors which may impair accurate risk comprehension and risk management decision making (Croyle and Lerman 1999; Hopwood 2000). Individuals experience difficulty in understanding probability and relative risk data (Edwards et al.2001; Gigerenzer 1996; Gigerenzer and Edwards 2003), particularly when presented in a numerical format (Hallowell et al.1997). Cultural beliefs or assumptions, which may conflict with genetic knowledge, could also influence the understanding of risk information (Bottorff et al.1998). Furthermore, risk information may at times be provided to individuals who perceive themselves as healthy, or to those who have not had a close relative with a given disease (Bottorff et al.1998). Individuals therefore may have to think in varied, complex and abstract ways, considering situations where an effective treatment is not available or possible future problems (Bottorff et al.1998).

In order to understand risk information, particularly for multi-factorial diseases, individuals need to be able to understand complex, molecular models of inheritance (Shiloh 2006). While genetic counseling can have a direct effect on beliefs of the costs and benefits of particular health behaviors and whether they are taken up, individuals will use their own mental models of inheritance and disease causation to interpret and assimilate the risk information they have received (Shiloh 2006). The extent to which individuals understand their genetic risk may influence decisions to access services such as genetic testing (Croyle and Lerman 1999; Gates 2004) and risk management (Croyle and Lerman 1999). Perceived risk has also been reported to be a significant motivator for the uptake of protective health-related behaviors and preventive surgery (Katapodi et al.2004; Meiser and Halliday 2002). Inaccurate risk perceptions may lead to inappropriate decision making, which is of particular concern if this leads to decisions to undergo preventive surgery (Katapodi et al.2004; Meiser and Halliday 2002). Understanding the ways in which perceived risk acts as a motivator (Katapodi et al.2004) will help to tailor risk communication and genetic counseling appropriately (Bottorff et al.1998), particularly for individuals whose pre-conceived perceptions of risk may be resistant to the standard education and counseling approaches undertaken in clinical genetics (Croyle and Lerman 1999).

Funded by the Department of Health in the UK, a systematic review of the risk communication literature in clinical genetics was undertaken, to enhance understanding of both the processes of risk communication and how effective strategies can be implemented, details of which can be found in the final report (Edwards et al.2006). In this paper, we present a sub-section of the review where we sought to determine the ways in which individuals perceive, construct and interpret their risk and the subsequent effects these have, such as through the use of services and tests.

Methods

Search Strategy

Six electronic databases (Medline, CINAHL, Cochrane Library, EMBASE, PsycInfo, National Research Register) were searched from 1985 to January 2006. The search strategy was based around those used in other systematic reviews in related fields (Iredale et al.2002; Shaw et al.1999), focusing on: risk and communication; genetics, predisposition, screening, or counseling; service delivery, health services, organization; trial design filters. Details of the search strategy can be found in Table I.
Table I

Final search strategy

Search terms for ‘risk communication’

Search terms for ‘genetic disorders/services’

Other search terms based on

01

exp risk

26

colonoscopy/ or sigmoidoscopy/

 

a)

02

risk.tw.

27

exp cystic fibrosis/

01

Exp qualitative validity/

03

((patient$ or consumer$ or recipient$) adj5 (tailor$ or personal$)).tw.

28

exp breast neoplasms/

02

Qualitative analysis/

04

((tailo$ or individual$ or personal$) adj5 message$).tw.

29

exp ovarian cancer/

03

Qualitative research/

05

or/1–4

30

prostate-specific antigen/

04

Qualitative studies/

06

communication/

31

precancerous conditions/ or cervix dysplasia/

05

Qualitative.af.

07

patient education/

32

early diagnosis/

06

Or/1–5

08

persuasive communication/

33

neoplasms.mp.

07

Focus group$.af.

09

counselling/ or exp counseling/

34

exp breast/ and exp neoplasms/

08

Quantitative.af.

10

genetic counseling/ or exp genetic counseling/

35

exp fibrocystic disease of breast/

09

Understand$.tw. or interpret$.tw.

11

health promotion/

36

exp Muscular Dystrophy, Duchenne/

 

b)

12

health knowledge, attitudes, practice/

37

exp down syndrome/

01

Exp anxiety/

13

health attitudes/ or health knowledge/ or health behavior/

38

exp Alzheimer Disease/

02

Exp behavior and behavior mechanisms/

14

((patient$ or consumer$) adj3 (communicat$ or counsel$ or inform$ or discuss$ or decision$ or decide$ or participat$)).tw.

39

occult blood/

03

Exp stress, psychological/

15

patient acceptance of health care/

40

mammography/

 

c)

16

attitudes to health/ or patient attitudes/

41

hemochromatosis/

  

17

decision making/ or choice behavior/

42

exp heart defects, congenital

01

Exp information dissemination/

18

informed consent/

43

exp Huntington disease/

02

Professional$.tw. or famil$.tw.

19

health beliefs/

44

Marfan syndrome/

03

1 and 2

20

(written or audiotape or video or computer decision making tools or web or internet).tw.

45

Brca1.mp. or brca2.tw.

 

d)

21

6 or 8 or 19 or 20

46

exp genetic predisposition to disease/

01

exp treatment outcome/

22

3 or 4 or 14

47

exp neoplastic syndromes, hereditary/

02

refusal to participate/

23

7 or 11 or 12 or 13 or 14 or 15 or 17 or 18 or 19

48

exp genetics/

 

e)

24

9 or 10

49

(familial or inherit$ or heredit$ or predispos$ or susceptib$).mp.

01

exp professional development/

25

22 or 23 or 24 or 25

50

genetics.mp. or gene$.tw.

02

outcome and process assessment (health care)/ exp primary health care/

  

51

genetic testing.tw.

  
   

Search terms for service delivery

  
  

52

health facilities/exp health care, quality,

  
  

53

access/ and evaluation/

  
  

54

exp health care economics/ and organizations/

  
  

55

exp health services/

  
  

56

52 or 53 or 54 or 55

  
  

57

exp genetic services/

  
  

58

46 or 48 or 49 or 50 or 51 or 58

  
  

59

or/ 26–47

  
  

60

25 and 58 and 59

  
  

61

limit 60 to yr = 1985–2005

  
  

62

5 and 62

  

Follow-up searches included both electronic (Citation Indices) and manual searches of journals, and examining reference lists of included papers. The strategy was broad (high recall, low precision) as this search was part of a wider review of communication in genetics, addressing other aspects such as family communication, professional development and training (Edwards et al.2006). Outputs from each database were downloaded and merged into Endnote (version 9) and duplicates removed.

Assessment for Inclusion of Studies

Inclusion criteria were identified as follows:
  • Participants

    Adults, over 18 years of age, attending (or who had attended) clinical genetics consultations for themselves or their children, or who were using/had used materials communicating risk to support clinical genetics consultations.

  • Focus of studies

    Studies were included if they addressed the following:
    • Lay cognitions concerning the perceptions, understanding and interpretation of personal genetic risk, and risk for other family members;

    • Views and understanding of risk assessment interventions;

    • Psychological distress (where associated with studies of lay cognition/understanding of risk)—anxiety, depression, worry, family (interpersonal) problems;

    • Well being; general health perceptions;

    • Use of services and costs.

  • Study designs
    • Qualitative and quantitative studies were included.

    • Quantitative studies were restricted to observational studies or outcome data from trials, including those relating to psychological impact of perceived risk.

All titles and abstracts were assessed by two reviewers for inclusion, and full papers were obtained of all potentially relevant studies identified by either of the reviewers. These were then further assessed for inclusion by two reviewers. Decisions were made independently about inclusion or exclusion, with reference to a third reviewer (AE or SS) if there was disagreement between the first two. The agreement rate between reviewers was not formally examined.

Data Extraction

Data were extracted onto an Access Database, comprising: country of origin, description of patients/users and professionals involved; study design, sample size and formation; nature of interventions (if any), focus of study/types of outcomes and duration of follow-up; methodological appraisal (for quantitative or qualitative as appropriate).

Synthesis

Due to the heterogeneity of interventions and client groups, quantitative meta-analysis was not feasible. A narrative synthesis of the data was undertaken and organized according to the three study aims: assessment of perceived risk; construction and comprehension of risk; effects of perceived risk.

Results

In total 59 studies were included. Figure 1 details the numbers of studies searched, included and undergoing data extraction. Of these 59 studies, 36 focused on breast/and ovarian cancer, five on other cancers (one paper looking at hereditary cancer also included heart disease and diabetes), six on cystic fibrosis, four on Down’s syndrome and neural tube defects, four on Huntington’s Disease, two on Alzheimer’s disease, and one each on Ataxia-Telangiectasia and Duchenne Muscular Dystrophy.
https://static-content.springer.com/image/art%3A10.1007%2Fs10897-007-9132-1/MediaObjects/10897_2007_9132_Fig1_HTML.gif
Fig. 1

Search results

Table II details the number of studies providing data for each of the key areas defined by the research aims, along with their clinical topics and the nature of evidence. A summary of each study is provided in Table III.
Table II

Studies by clinical topic and design

Topic

No. of studies

Clinical topic

Nature of evidence

Assessment of perceived risk

38a

26 Breast/and ovarian cancer

20 observational

2 Cancer

8 RCTs

3 Down’s syndrome

5 qualitative

4 Cystic Fibrosis

4 mixed methods (observational & qualitative

2 Huntington’s Disease

1 quasi-experimental

1 Duchenne Muscular Dystrophy

 

1 Alzheimer’s disease

 

Construction and comprehension of risk

19a

11 Breast/and ovarian cancer

11 qualitative

3 Cancerb

5 observational

2 Down’s syndrome

2 mixed methods (observational & qualitative)

1 Ataxia-Telangiectasia

1 RCT

1 Cystic Fibrosis

 

1 Huntington’s Disease

 

Effects of perceived risk

34a

22 Breast/and ovarian cancer

19 observational

2 Cancer

6 qualitative

1 Down’s syndrome and neural tube defects

4 RCTs

4 Cystic Fibrosis

4 mixed methods (observational & qualitative)

3 Huntington’s Disease

1 Quasi-experimental

2 Alzheimer’s Disease

 

aSome overlap between the three areas.

bOne study looked at cancer, diabetes and heart disease (Walter and Emery 2006).

Table III

Summary of included studies

Author

Clinical topic

Study design

Patients (n)

Risk perception measures

Time points

Outcomes the effects of perceived risk (where applicable)

Results

Andrews et al. (2004)

Breast cancer

Cohort study: prospective, longitudinal design

60 women of Ashkenazi Jewish origin who underwent genetic testing

Two items assessed perceptions of relative risk compared to women in the general population of a similar age, and women with a close relative with breast cancer of a similar age.

At baseline prior to attending familial cancer clinic

n/a

Previously affected by breast/ovarian cancer: n = 10, Unaffected: n = 50

Perceived approximate lifetime risk of breast cancer (or if affected, a second breast cancer) using a numerical differential scale ranging from ‘0% or no chance’ to ‘100% chance, meaning you will definitely get it’.

Appleton et al. (2000)

Breast cancer

Focus groups and short feedback questionnaire

25 women of at least moderately increased risk of breast cancer

Telephone focus group: standard stimulus questions and probes to discuss effects of living at an increased risk on everyday life and coping with an increased risk.

Feedback questionnaire completed several days after focus group

Anxiety and depression

Acute emotional and cognitive responses triggered by risk-related events

Genetic testing

Knowing about increased risk not found to affect decision making.

Anxiety expressed about future decisions for genetic testing

Feedback questionnaire: eight items on effects on everyday life and difficulties coping with increased risk of breast cancer (4 point Likert scale).

Prophylactic surgery

Knowing about increased risk not found to affect decision making, however anxiety expressed about future decisions concerning prophylactic surgery

Screening and surveillance

Knowing about increased risk prompted increased vigilance in BSE

Health related behaviors

Knowing about increased risk lead to prioritization of health and taking on new health behaviors in order to gain control over perceived risk

Axworthy et al. (1996)

Cystic fibrosis

Cross-sectional survey

742 individuals who underwent CF carrier test

Understanding of test results: 3 questions with multiple choice answers:

Assessed at one time point, a median 3 years after screening.

Anxiety

No differences between carriers and screen negative participants

1. What was your test result? (3 possible answers: positive, negative, cannot remember)

2. If a person receives a positive result on carrier testing for cystic fibrosis, what does that mean?

Reproductive intentions

No difference between carriers and screen-negative participants in reproductive intentions or behavior

3. If a person receives a negative result on carrier testing for cystic fibrosis, what does that mean? (6 possible answers for Qs 2 and 3: definitely not a carrier, unlikely to be a carrier, likely to be a carrier, definitely a carrier, do not know)

Binedell et al. (1998)

Huntington’s Disease

Semi-structured interviews

54 at risk of HD

Asked to rate the likelihood of developing HD and carrying the gene on seven-point semantic differential scale.

Assessed before preliminary interview in predictive testing program

Genetic testing

Test requesters found uncertainty of at-risk status more stressful than non-requesters

Requested testing: n = 22, Not requested testing: n = 22

Percentage estimates of risk for HD converted into scores on a seven-point scale.

Both requesters and non-requesters felt more able to cope with the uncertainty of risk than the test result, with requesters better able to cope than non-requesters

Bish et al. (2002a, 2002b)

Breast and ovarian cancer

Longitudinal study

203 women referred for genetic counseling due to a family and/ or personal history of breast/ovarian cancer (Bish et al.2002a).

Perceptions of breast cancer risk relative to other women of the same age

Assessed at baseline prior to genetic counseling and then at 2 weeks, 6 months and 12 months post counseling

n/a

(scored on a 5 point Likert type scale from 2—much less likely to 2—much more likely)

61 women undergoing testing for germline mutations in BRCA1/2 genes (Bish et al.2002b)

Perceived likelihood of carrying a mutation

(scored on a 5 point Likert type scale from 2—extremely unlikely to 2—extremely likely)

Bowen et al. (2004); Burke et al. (2000)

Breast cancer

RCT

354 women with family history of breast cancer

4 items measuring beliefs about perceived personal breast cancer risk:

Assessed at baseline (prior to counseling) 6 months after randomization

Anxiety

Anxiety prior to counseling leads to increase in risk perceptions

1. Personal estimate of lifetime risk on scale of 0 to 100%;

Risk perceptions not found to be significant predictor of changes in anxiety post counseling

2. Personal estimate of risk relative to average women rated on 8-point scale;

3. Personal risk relative to others in age group on 8-point scale;

4. Personal risk without referent group using categories of very high, high, low and very low.

Brain et al. (2000); Brain et al. (1999); Brain et al. (2002)

Breast cancer

RCT

545 (Brain et al.2000)/833 (Brain et al.1999)/730 (Brain et al.2002) women with family history of breast cancer

2 items assessing perceived personal risk of developing breast cancer rated on a 5-point scale: a higher score indicates higher perceived risk:

Assessed at baseline, prior to randomization, follow-up immediately after intervention, and at 9 months

Anxiety

Higher levels perceived risk associated with higher levels of anxiety (although weak association)

1. What level of risk do you think you personally have?

Worry

Higher levels perceived risk associated with higher levels of worry

2. In your opinion, what are your chances of getting breast cancer compared with the average woman?

Screening and surveillance

High levels of perceived risk associated with excessive BSE

 

Weak trend towards an increase in risk perceptions leading to an increase in BSE

 

No differences in risk perceptions between infrequent or inappropriate BSE

 

Genetic testing

An overall decrease in interest in genetic testing but no evidence of a relationship between risk perceptions and interest in genetic testing.

Braithwaite et al. (2005)

Breast cancer

RCT

72 women with a family history of breast cancer

Perceived risk: Comparative risk of developing breast cancer assessed using a single-item measure on five-point scale: ‘compared to other women of your age, do you think your chances of developing breast cancer in your life are?’ (much lower–much higher).

Assessed at baseline (prior to the intervention), post-clinic and at 3 months follow-up

n/a

Risk accuracy: Participants asked whether they perceived their risk to be average (low), moderately increased or high.

Broadstock et al. (2000)

Breast and ovarian cancer

Cohort study: prospective, longitudinal design

21 women at risk of HBOC

Perceived lifetime risk of developing breast cancer assessed in single scale ranging from 0 (no chance) to 100 (absolutely certain)

Perceptions relating to mutation searching assessed post-counseling only

Anxiety

No association with perceived risk of carrying mutated genes

Perceived expected age of onset of breast cancer

Perceived likelihood of carrying a mutation in family assessed using 5 point-scales ranging from no chance to definitely

Other measures assessed at baseline 3 weeks prior to counseling, and follow-up at 1 week, 6 months and 12 months after clinic.

Worry

No association with perceived risk of carrying mutated genes

Likelihood of faulty gene being found in one’s affected relative assessed by a rating scale ranging from 0 (not at all likely) to 100 (extremely likely)

Callanan et al. (1995)

Cystic fibrosis

Focus groups and telephone interviews

8 couples and 2 individuals with family history of CF

Explored factors influencing decision to be tested, including risk perceptions.

Participants had requested genetic counseling and/or carrier testing within the 3 years prior to the study

Reproductive intentions

Families with family history of CF underwent carrier testing as they were planning on having children and were concerned about having a child with CF

d’Agincourt-Canning (2005)

Breast and ovarian cancer

In-depth interviews

53 individuals from families at high risk for hereditary breast/ovarian cancer

No specific measure Interviews looked at understanding of personal risk.

One-time point

n/a

Decruyenaere et al. (1999)

Huntington’s Disease

Cohort study: before and after design

69 tested for HD

Subjective perception of risk measured by open-ended question and answers categorized as follows:

Pre-test and post-test counseling sessions (1 year after testing)

Anxiety

Those with higher levels of perceived risk became more anxious as they approached their perceived age of onset of HD.

Carriers: n = 29, Non-carriers: n = 40

Thinking that one will be a non-carrier—probably a non-carrier/“accurate” perception/probably a carrier/a carrier

Depression

High perceived risk correlated with higher rates of depression pre-testing

Categories labeled on ordinal scale from 1 (thinking that one will be a non-carrier) to 5 (thinking that one will be a carrier) for statistical analyses

Those with higher levels of perceived risk became more depressed as they approached their perceived age of onset of HD.

Ekwo et al. (1985)

Down’s Syndrome/Congenital abnormalities

Cross-sectional

202 Women accepting amniocentesis

Subjective estimate of the chance of amniocentesis correctly identifying a fetus with Down’s syndrome.

Women accepting amniocentesis: Questionnaire completed after genetic counseling as soon as they indicated whether they desired amniocentesis or not.

n/a

50 women not accepting amniocentesis

Subjective estimate of the risk associated with having amniocentesis made by participants indicating what they thought the chance of developing complications during or soon after amniocentesis.

(Responses for both items: very high, high, low and very low for both items)

Women refusing amniocentesis: Contacted at 18th week of gestation and interviewed between 18th and 22nd week.

Subjective estimate of risk of chances of having a child with Down’s syndrome in the index pregnancy.

(Responses: very low, low, 50/50, high, very high)

Evans et al. (1994)

Breast cancer

Cohort study: before and after design

308 women referral to a family history clinic and 200 returning to clinic for screening at least 1 year after counseling

Estimated risk of developing breast cancer for any woman in the general population

Pre-counseling and post-counseling (1 year post genetic counseling)

n/a

Own lifetime risk of developing breast cancer

For both items participants chose from 1 of the following responses: a) inevitable; b) 1 chance in 2; c) 1 chance in 3; d) 1 chance in 4; e) 1 chance in 5; f) 1 chance in 6; g) 1 chance in 8; h) 1 chance in 10; i) 1 chance in 100; 1 chance in 20; k) 1 chance in 50; l) 1 chance in 100; m) very unlikely.

Participants also asked whether they had spoken to other members of their family about their breast cancer risk, whether they feel they are at increased risk of developing other cancers and whether they think screening will help them (‘yes/no’ response)

Evers-Kiebooms et al. (1988)

Cystic fibrosis

Interviews and questionnaire follow-up study

105 families

Looked at awareness of having another child with CF and understanding of risk, however unclear as to how this was specifically measured

Standardized interview an average of 4.9 years since birth of a CF child with follow-up study 3 years later

Reproductive intentions

The higher the perceived risk, the more important its influence on the planning of further pregnancies.

Influence of risk perceptions on actual decisions not specifically looked at, although the majority were not planning on any subsequent pregnancies.

Fanos and Gatti (1999)

Ataxia-telangiectasia

Cross-sectional survey and semi-structured interviews

35 sibs of individuals with A-T from 24 families, including 26 adults and 9 adolescents

Estimates of the frequency of A-T carrier status in the general population

One time point with no direct relevance to genetic counseling or testing.

n/a

Incidence of A-T in affected families, and the frequency of carrier status for sibs in affected families

Based on the interview data, participants were rated for their assumptions of their carrier status prior to receiving their test results (no myths, not a carrier, carrier).

Frost et al. (2000)

Hereditary cancer

Cross-sectional

78 at risk of hereditary cancer (39 with cancer diagnosis, 39 without cancer diagnosis)

Rating of cancer risk on a qualitative scale rated as “no risk,” “low risk,” “average risk,” “high risk” or “extremely high risk.”

Ratings of perceived risk reported only for those without cancer

Stress and coping

Perceived increased risk of cancer can result in emotional stress and increased awareness of health

Quantitative lifetime risk of cancer rated on a linear scale from 0 to 100%

Assessed after clinical assessment but before discussion about risk status and recommendation for follow-up

All but one of the participants coped with their cancer risk ‘fairly/extremely well’ (majority perceived themselves to be at high risk)

Gagnon et al. (1996)

Breast cancer

Cohort study: longitudinal

94 women at increased risk of breast cancer

Estimate of own risk and risk of an average woman of developing breast cancer assessed in 2 ways:

Assessed at baseline prior to first Special Surveillance Breast Program visit, and at 2 months and 4 months follow-up

Screening and surveillance

The higher the perceived risk, the lower the confidence in performing BSE

1. categorical scale to check of appropriate categories of percentage of risk

2. 10-cm visual analog scale marked at one end ‘I have no chance at all (of developing breast cancer) and at the other end ‘I am absolutely certain to develop it.’

Risk perceptions not associated with frequency of BSE

Hallowell et al. (2004)

Breast and ovarian cancer

In-depth interviews

30 affected women for breast/ovarian cancer who satisfied criteria for genetic testing and undergone/undergoing BRCA1/2 mutation searching

No specific question exploring risk. The following themes were explored:

Had either undergone, or were undergoing genetic testing at the time of the interview.

n/a

Carriers: n = 10, Awaiting result: n = 8, Inconclusive result: n = 12

– Diagnosis and treatment of cancer;

– Family support during illness and testing;

– Experience of DNA-testing;

– Decision-making about testing;

– Communication of results in the family;

– Impact of genetic testing on their lives.

Hallowell et al. (1997); Hallowell et al. (1998)

Breast and ovarian cancer

Cohort study: prospective, longitudinal design using semi-structured interviews and questionnaire

46 women attending a family history clinic.

Questionnaire asked participants to recall the risk information they had received which were presented proportions and/or percentages and/or odds.

Pre-clinic risk perceptions established in telephone interviews prior to attending clinic.

n/a

Questionnaire completed 6–8 weeks after attending clinic.

Interviews addressed risk perception among other themes.

Face-to-face interviews conducted after questionnaire completed.

Recall of risk estimates explored in telephone interviews 12 months later.

Hofferbert et al. (2000)

Breast and ovarian cancer

Cohort study: prospective, longitudinal design

83 members of 52 breast and ovarian cancer families

Unaffected males and females asked to estimate their risk of developing breast and/or ovarian cancer.

Baseline (prior to making an appointment for genetic counseling), prior to first counseling session, prior to second counseling session (with the written report about the time of the second questionnaire) and 3, 8 and 24 months post counseling

n/a

Affected individuals asked to estimate the risk of passing on breast and/or ovarian cancer to the next generation

In both cases, it is assumed from the results section that percentage estimates were asked for, but no further details are provided.

Hopwood et al. (1998)

Breast cancer

Cohort study: prospective, longitudinal design and semi-structured interview (Psychiatric Assessment Schedule)

158 women, first time attendees at Family Health Clinic

Estimate of population and personal risk of breast cancer by choosing from a selection of odds ratios

Pre-counseling, and then at 3, 6, 9 and 12 months follow-up

Anxiety and depression

Those with high risk perceptions were more likely to be distressed prior to counseling

Levels of distress decreased post-counseling for those with accurate risk perceptions

Hopwood et al. (2001)

Breast cancer

Cohort study: before and after design

500 women with family history of HBOC (300 women at follow-up)

Risk perception assessed through selection of appropriate odds ratio values ranging from 1:2 to 1:100 with additional categories of “inevitable” and “very unlikely.”

Pre- and post-genetic counseling

Worry

No significant changes for those who underestimated or had accurate risk perceptions pre-counseling

Significant decrease in worry for those who overestimated risk pre-counseling, as their perceptions became more realistic post-counseling

Little evidence that overestimation of risk causes an impairment of mood or daily functioning

Huiart et al. (2002)

Breast and ovarian cancer

Cohort study: before and after design

397 women attending cancer genetic clinics in France for the first time

Perception of family risk of breast cancer assessed on a five-point scale:

Assessed before and after the genetic consultation

n/a

“Do you think members of your family have a greater risk of developing cancer than the members of other families?”

“Yes, definitely; Yes, perhaps; I don’t know; Probably not; Definitely not.”

Julian-Reynier et al. (1998)

Breast and ovarian cancer

Cohort study: before and after design

115 women with breast/ovarian cancer attending their regional cancer centre

Beliefs about the contribution of six risk factors (diet, heredity, stress, smoking, alcohol, the environment) to the occurrence of their own cancer.

Assessed prior to the consultation and within one week of the consultation

n/a

(measured with a 5-item Likert scale from 1, ‘no importance’ to 5, ‘very great importance’)

Perception of a family risk of cancer:

‘Do you think your relatives have a higher risk of cancer than the members of other families?’

(yes/no answer and an open space in which a free statement could be written as to why they thought their family was ‘at risk’)

Kelly et al. (2005)

Breast cancer

Cohort study: before and after design using telephone interviews

112 participant from approximately 70 families with a family history of cancer

Perceptions of personal lifetime cancer risk assessed by two items:

Both quantitative and qualitative assessment of perceived risk at interview 1–2 days post-counseling and a second interview 1 week after receipt of genetic test results.

n/a

1. Absolute perceived risk—“Do you feel you will be among those who get cancer (again) or those who do not?” (Responses: ‘yes’ or ‘no.’)

2. Followed by open-ended question asking why they responded as they did.

Comparative perceived risk—compared lifetime risk for breast cancer to that of other women (or men if respondent was male)

“Do you think your odds of getting breast cancer (again) are the same or different than those of other women (men)?”

(Responses: ‘higher,’ ‘the same,’ ‘lower’)

Followed by open-ended question asking why they responded as they did.

Kenen et al. (2003)

Breast and ovarian cancer

Semi-structured interviews (also clinical observations)

21 women attending cancer genetics risk clinic for first time, with no personal history of breast/ovarian cancer.

Participants asked open-ended questions about the likelihood of their developing cancer and how they might prevent it

Not clear but presumed that interviews conducted after counseling session.

n/a

Leonard et al. (1995)

Cystic fibrosis

Quasi-experimental

409 pregnant women and 251 male partners attending a prenatal genetic centre

Perceived personal risk (susceptibility):

Post carrier testing

n/a

‘how would you rate your chance of having a child with CF?’

(Responses from 1 (very likely) to 5 (no chance)).

Likelihood of being a carrier—likelihood of undergoing carrier testing:

(Responses from having 1 (little effect) to 5 (big effect) on their likelihood of undergoing carrier testing)

(Liede et al. (2000)

Hereditary cancer

Cross-sectional

59 male carriers of BRCA1/2 mutations

Not clear

Post-receiving test results for BRCA1/2 mutation searching, mean 2.2 years prior to completing questionnaire

Anxiety and depression

Relief of anxiety when uncertainty of risk status removed

Two men with daughters felt guilt after learning they were carriers

Lim et al. (2004)

Breast and ovarian cancer

Semi-structured interviews

47 unaffected women

No specific measure, qualitative data presented

After receiving results for HBOC mutation searching between 1 month and 5 years prior to study

Prophylactic surgery

For some, receiving mutation negative results did not change sense of risk—one women went ahead with prophylactic mastectomy and others wanted to continue with screening

Mutation positive: n = 23, Mutation negative: n = 24

Loader et al. (2004)

Breast and ovarian cancer

Case control study: structured interviews and questionnaire

87 women

No measure specified although perceived susceptibility to breast cancer is stated to be an independent variable.

1 month and 1 year after receiving genetic test results.

Worry

Greater perceived susceptibility to cancer associated with increase in breast cancer worry

Family history of breast and ovarian cancer: n = 20

Family history of breast, but not ovarian cancer: n = 67

Also, 4 years after receiving results for those with an abnormal result.

Of the sample, 26 had had breast or ovarian cancer themselves and at least 1 affected close relative. The remaining 61 had at least 2 affected close relatives.

Lobb et al. (2003)

Breast cancer

One component from larger RCT: questionnaires and analysis of transcript of genetic counseling consultation using a before and after design

158 women from high-risk breast cancer families attending their first consultation prior to genetic testing

Women were asked to estimate their risk of developing breast cancer over their lifetime by choosing between nine response options:

2 weeks before and 3 weeks after genetic counseling.

n/a

1 in 100 (1%), 1 in 25 (4%), 1 in 13 (8%), 1 in 16 (16%), 1 in 4 (25%), 1 in 3 (33%), 1 in 2 (50%), 2 in 3 (66%), or inevitable (100%).

Marteau et al. (2000)

Down’s Syndrome

RCT

209 pregnant women with low risk results following a serum screening test for Down’s Syndrome

Understanding of test result:

Assessed one week and 4 months after receipt of test results

n/a

Multiple-choice question asking `What does your result mean‘’

6 response options: (a) The baby definitely does not have Down syndrome; (b) The baby probably does not have Down syndrome; (c) The baby may have Down syndrome; (d) The baby probably does have Down syndrome; (e) The baby definitely does have Down syndrome; (f) don’t know.

(Responses (b) and (c) are correct answers)

Morris et al. (2001)

Breast and ovarian cancer

Cohort study: before and after design

83 women referred for genetic counseling

No measure specified. Unclear whether perceived risk quantitatively assessed.

Pre-test and post-test

Prophylactic surgery

37% of patients at risk for HBOC considering prophylactic surgery believed themselves to be at high risk

Newman et al. (2002)

Cystic fibrosis

Part of a larger RCT

First-, second-, and third-degree relatives of CF patients

Respondents were asked to evaluate, on five-point scales ranging from 1 (extremely high) to 5 (extremely low), their chance of carrying the CF gene, the chance that their future children could have CF, as well as the chance that their future children could be CF gene carriers.

These questions were asked at baseline and again while the respondents were waiting for their CF carrier test results

Study did not look at the effects of perceived risk

Parsons and Clarke (1993)

Duchenne Muscular Dystrophy

Unstructured interviews

48 women (16 mothers and 32 daughters representing 28 families) who had lived with Duchenne Muscular Dystrophy in their family

Interviews looked at how participants talked about risk in the course of an informal conversation in their own home.

One time point, not in relation to counseling or testing, although all had at some point been given a figure representing their carrier risk

n/a

Parsons et al. (2000)

Breast cancer

Semi-structured interviews, focus groups and clinical consultations

7 clinicians and 43 women

No specific measure, qualitative data presented.

Thematic analysis of clinical consultation and interviews with women called for their first annual review

Anxiety and depression

Highly anxious women relegated the importance of their risk in order to be able to cope with their at risk status.

While their risk assessment did not remove the uncertainty of cancer, medical surveillance provided reassurance that they have not so far developed cancer.

Peshkin et al. (2002)

Breast cancer

Cross-sectional

107 women who underwent BRCA1/2 mutation searching

Perceived likelihood of having a BRCA1/2 mutation rated as “not at all likely, somewhat likely, very likely, definitely”.

Pre-genetic counseling

Screening and surveillance

Perceived likelihood of having a mutation was not a significant predictor of mammography use, however 74% of women who thought they were ‘not at all’ or ‘somewhat likely’ to have a mutation obtained a mammogram in comparison with 45% of those who thought they were at least ‘very likely’ to have a mutation.

Carriers: n = 41, Non-carriers: n = 66

Pieterse et al. (2005)

Hereditary cancer

Cohort study: before and after design

128 affected/unaffected counselees from families with no known mutation

Perceived risk hereditary cancer runs in the family

Pre (within a week before 1st consultation) and post counseling

n/a

Perceived risk counselee had inherited susceptibility to cancer

Perceived risk will (re)develop cancer in future

(Assessed on separate numerical scales from 0% to 100%)

Plon et al. (2000)

Breast cancer

Cohort study: prospective, longitudinal design

215 women with family history of breast cancer

Breast cancer perceived risk:

Baseline prior to testing and at 1 month, 6 months, 1 year and 2 years after receiving test results

Worry

Significant decrease in worry and perceived risk for those with a negative BRCA1 result

“what do you think your chances are of getting breast cancer some day?”

Screening and Surveillance

Increase in perceived risk predictor of uptake of mammography

(Responses: 1—not at all, 2—a little, 3—somewhat and 4—a lot)

Robins Wahlin et al. (2000)

Huntington’s Disease

Cohort study: prospective, longitudinal design

34 participants at risk of HD

Risk perception measured using visual-analog scale. Participants asked to make vertical cross on 150 millimeter long horizontal line s to how sure they were that they would get HD from “I am absolutely certain I will not develop HD” on the right to “I am absolutely certain I will develop HD” on the left.

Baseline data collected in 3rd psychosocial session, patients then interviewed at 2, 6, 12 and 24 months post disclosure of test results.

Suicidal ideation/attempted suicide

No indication that there was an association with perceived risk

Carriers: n = 13, Non-carriers: n = 21

Sense of well-being

No indication that there was an association with perceived risk

Genetic testing

Most important reason for undergoing test was to remove uncertainty about future.

Unfavorable outcome anticipated by both gene carriers and non-gene carrier

Health related behaviors

No significant differences in lifestyle between gene carriers and non-gene carriers.

Roberts et al. (2005)

Alzheimer’s

RCT

162 adult children of person with clinically/autopsy confirmed AD

No details of any specific measure provided.

Post-counseling and testing

Anxiety

No statistically significant differences post risk disclosure between є4 positive and є4 negative participants.

Same or lower levels post-risk disclosure

Significant increases in some participants but largely due to external stressors

є4 negative participants were more likely to have lower levels of anxiety

Depression

No statistically significant differences post risk disclosure between є4 positive and є4 negative participants

Significant increases in some participants but largely due to external stressors

Health related behaviors

Those found to be higher risk more likely to take on activities to potentially reduce the risk of Alzheimer’s

Robertson, (2000)

Breast cancer

Semi-structured interviews

20 women attending breast health clinic (no personal history of breast cancer)

Explored the ‘phenomenology of risk.

Attended breast health clinic within the 6 months prior to the study

Health related behaviors

Awareness of risk factors used to create personal risk factors. Participants then adopt new, or change current behaviors in order to reduce their perceived risk.

Romero et al. (2005)

Alzheimer’s

Cohort study: longitudinal design

76 participants with family history of AD who received their genotype for AD

No details of any specific measure provided, but it is assumed that participants’ knowledge of test results is used as a proxy measure of perceived risk.

Baseline prior to genetic counseling and 1, 4 and 10 months follow-up post-genotype disclosure

Depression

No significant change for high risk after genotype disclosure.

Significant decrease in depression for low risk after genotype disclosure.

Worry

Decrease in worry for those at high and low risk following genetic counseling.

Rothemund et al. (2001)

Breast cancer

Quasi-experimental: before and after design

23 women with family history of breast cancer, 21 women without family history of breast cancer

Percentage estimate of personal lifetime risk of breast cancer

Pre- and post-genetic counseling

Anxiety

Higher estimates of lifetime risk of breast cancer correlated with higher levels of anxiety for those without a family history of breast cancer

No significant correlation for those with family history

Screening and surveillance

Those with low and high perceived risk less likely to adhere to mammography than those with moderate perceived risk

Perceived risk not found to be associated with BSE.

Royak-Schaler et al. (2002)

Breast cancer

Cross-sectional

141 first degree relatives of breast cancer patients

Perceived personal risk of getting breast cancer assessed with 2 items which were equally weighted and summed to construct a perceived risk score:

One time-point, not in relation to counseling or testing

Worry

No significant differences/trends between those who reported discussions about family history and personal risk and those who did not

1. likelihood of developing breast cancer in lifetime measured on a 4-point Likert scale from “very unlikely” to “very likely”

2. Chances of developing breast cancer someday in comparison to most women of same age, measured on 5-point Likert scale ranging from: much lower to much higher

Ryan and Skinner (1999)

Breast cancer

Focus groups

29 first degree relatives of patients who had been diagnosed as having breast cancer 2–4 years previously.

After discussion had begun, but before discussion about risk factors, participants asked to write down factors they believed contributed to their breast cancer risk.

One focus group

n/a

Following the listing exercise, moderator asked questions about these risk factors:

– Family history of breast cancer;

– Relative’s age at diagnosis;

– Family history of other cancers;

– Lifestyle factors;

– Use of hormones;

– Breast diseases;

– Parity issues;

– Breastfeeding;

– Menstrual history;

– Repeated mammography;

– Race

Sagi et al. (1998)

Breast cancer

Cohort study: before and after design

60 healthy women who have relatives with breast cancer

Several items assessed women’s estimates (in percentages) and their subjective perceptions regarding the population and their own risks for breast cancer and the genetic contribution to breast cancer morbidity.

Before and after cancer risk counseling session

n/a

(Responses on 5-point Likert scales; 1—very low, 2—low, 3—moderate, 4—high, 5—very high)

Women’s impression about the possibility that the disease in their family was hereditary

(Responses on 5-point Likert scales; 1—very unlikely, 2—quite unlikely, 3—moderate, 4—quite likely 5—very likely)

Subjective perception of their relative risk (compared to an average woman) for breast cancer

(Responses on 5-point Likert scales; 1—much lower, 2—lower, 3—equal, 4—higher, 5—much higher).

Scott et al. (2005)

Cancer

Semi-structured interviews

58 patients referred to a regional cancer genetics service during 2001–02 given a risk assessment

No formal measure as semi-structured interviews

One interview

n/a

Sheinfeld Gorin and Albert (2003)

Breast cancer

Semi-structured interviews

26 women at familial risk for breast cancer

Open ended questions exploring risk

At one time-point, not in relation to counseling or testing

Cancer worry

Those overestimating their risk showed considerable cancer-related distress

One scale query on likelihood of developing breast cancer in lifetime on scale of 0% to 100%

Screening and surveillance

Those overestimating their risk more likely to have performed BSE than those ‘normalizing’ their risk.

(Risk Adopters expressed lifetime risk of 50% or more, Normalizers indicated lifetime risk of 49% or less)

Smith et al. (2002)

Huntington’s Disease

Semi-structured interviews

5 candidates for HD testing from one regional genetics centre

Participants asked about their current knowledge of their risk status, their psychological reaction to this and their psychological reaction to this.

P\articipants at first stage of counseling protocol (either not yet having had a counseling session at clinic or only having had first of three specified)

n/a

Swerts (1987)

Down’s Syndrome and Neural Tube Defect

Cross-sectional

Study 1: 119 families with a child with Down’s syndrome

Perceived risk not specifically measured but participants’ knowledge of recurrence risk figures, the impact of genetic counseling on pregnancy planning and the impact of attitudes towards prenatal diagnosis were assessed.

Not clear

Reproductive intentions

For Down’s syndrome families, information about recurrence risks or nature of handicap influenced decision to have more children.

Study 2: 94 families with child with neural tube defect

Information about availability of prenatal diagnosis and knowledge of risk numbers were significant factors in deciding to have more children.

van Dijk et al. (2004)

Breast cancer

Semi-structured interview

113 women who had had their first genetic consultation.

Participants asked what they had learned about their personal risk of developing breast cancer

Interviews conducted during the period where offered a consultation with a psychologist, immediately after the first counseling session, as standard procedure

n/a

(“What did you learn about your risk of developing breast cancer (again)?”).

In addition, they were also asked what their chance of developing breast cancer meant to them

(“What does the risk of developing breast cancer (again) mean to you personally?”).

van Dijk et al. (2003)

Breast cancer

Cohort study: before and design

241 women with family and/or personal history of breast cancer

Perceived risk of breast cancer assessed with a comprehensive scale which included various aspects of perceived risk:

Pre- and post-genetic counseling

Prophylactic surgery

Higher perceived risk of breast cancer associated with stronger intention for prophylactic mastectomy

1. Relative perceived lifetime risk of getting breast cancer: ‘compared to the average Dutch woman, my risk of developing breast cancer (again) is 1 ‘very much lower’, through 4 ‘equal to’, to 7 ‘very much higher’.

2. Numerical perceived lifetime risk of developing breast cancer—participants asked to give number out of 100.

Decrease in perceived risk after counseling led to weaker intention of prophylactic mastectomy

3. Verbal risk measured: ‘independent of my actual risk, I feel my risk of developing breast cancer (again) is 1 ‘very low’ to 7 ‘very high’.

van Vliet et al. (2001)

Down’s Syndrome

Observational

General population

Looked to determine understanding of the risk of Down’s Syndrome, whether expressed as a proportion or as a rate.

At one time point

n/a

Walter and Emery (2006)

Cancer

Semi-structured interviews

30 patients with a family history of cancer, heart disease or diabetes from 2 Cambridgeshire general practices.

Qualitative analysis using Common Sense Model of illness perceptions as the theoretical basis

One interview with no relation to counseling or testing

n/a

Heart Disease

Diabetes

Watson et al. (1998)

Breast cancer

RCT

115 women with a family history of breast cancer who were first time attendees at a cancer family clinic and had not been clinically affected with cancer

Relative risk: Assessed perception of breast/ovarian cancer risk relative to whole population of women.

Relative risk assessed at baseline and 1 month follow-up

n/a

Cases: n = 60, Controls: n = 55

(Responses on 5 point scale ranging from ‘very much lower’ to ‘very much higher’ than the average woman)

Risk questionnaire: Based on the content of the genetic consultation. Participants indicated whether they were given genetic information on specific predefined dimensions and then rated whether they found it useful. Ratings made in relation to:

Risk questionnaire at one month follow-up.

1. Population risk

2. Chance of breast cancer gene in family based on pedigree

3. Individual lifetime risk of breast (or ovarian) cancer

4. Risk of developing disease before age 50

5. Risk of not developing disease before age 50

6. Risk of developing disease over next 5 years

Also asked to state their actual risk figure provided by their clinical geneticist.

Wertz et al. (1992)

Cystic fibrosis

Cross-sectional survey and interviews

277 families

No details of any specific measure provided.

One-time point. Questionnaires were distributed either at regular clinic visits or mailed to families

Reproductive intentions

Majority of those who have a child with cystic fibrosis and intend to have more children planned to use prenatal diagnosis

(120 were interviewed briefly by telephone out of which 18 intended to have children and were interviewed in person about their opinions on prenatal diagnosis)

Most families who report that they would not terminate a pregnancy for CF would not have prenatal diagnosis

Wilson et al. (2005)

Breast cancer

RCT

Nurse Counselor Intervention: 289 women with family history of breast cancer

Self-perceptions of genetic risk assessed using a self-completion questionnaire where respondents asked to rate own perceived risk in 2 ways:

Baseline prior to intervention, follow-up after initial episode of care, follow-up 6 months later

Anxiety

Decrease in anxiety levels following counseling for participants randomized to the nurse counselor intervention with high levels of perceived risk at baseline.

1. Against a notional ‘average’ women

2. On a scale

Assessment of Perceived Risk

Thirty-eight studies assessed perceived risk, usually through quantitative methods (n = 35), although the assessment of perceived risk was not always the primary aim of these studies. The concepts of perceived risk varied, as did the ways in which these concepts were measured (see Tables IV and V). The point in time at which perceived risk was assessed and the length of time this was followed-up also varied across studies, with several only assessing risk perceptions at one time point limiting the opportunity to make any causal inferences (see Table VI). Of those studies assessing risk perceptions at more than one point in time, the length of follow-up was often short, the longest being 1 year after the counseling or after receiving genetic test results.
Table IV

Aspects of perceived risk examined in included studies

Measures of risk perception

No. of studiesa

Perceived risk of developing specific condition

25

Estimates of population risk

4

Relative risk

11

Perceived risk of being a mutation carrier

4b

Perceived age of onset

2

Likelihood a faulty gene would be found in a relative

1

Understanding of test results and carrier testing

1

Risk of passing gene on

1

Future offspring develop condition

4c

Disease in family hereditary

3

aSome studies used more than one measure of perceived risk therefore the number of studies column totals more than 35.

bLooked at how this would affect CF testing

cUnderstanding risk of Down’s

Table V

Formats for assessing perceived risk

Format of risk perception assessed

No. of studiesa

Percentage (or number out of 100)

12

Odds ratio

4

Ordinal/categorical scales

23

Visual analogue scales

2

aSome studies used more than one measure of perceived risk therefore the number of studies column totals more than 35.

Table VI

Time-points for assessing perceived risk

Time points

No. of studies

One time point (either prior to or post genetic counseling, after receiving test results or post screening)a

12

‘Before and after’ genetic counseling or testing

14

Multiple follow-up points

10

aSome studies used more than one measure of perceived risk therefore the number of studies column totals more than 35

bFor two studies there was no direct relation to genetic counseling or testing

Accuracy of risk perceptions was commonly analyzed by comparing the numerical estimates of patients with the estimates calculated by their clinicians. Most studies found the majority of participants (particularly those with a family history) to over-estimate their risk of developing cancer (usually breast cancer) (Andrews et al.2004; Bish et al.2002a; Bowen et al.2004; Brain et al.2000; Braithwaite et al.2005; Burke et al.2000; Evans et al.1994; Frost et al.2000; Gagnon et al.1996; Hofferbert et al.2000; Hopwood et al.2003; Newman et al.2002; Pieterse et al.2005; Plon et al.2000; Rothemund et al.2001; Sagi et al.1998), with some evidence that risk perceptions decreased over time, often towards a more accurate perception of risk, as a result of genetic counseling (Bish et al.2002a; Bowen et al.2004; Brain et al.2000; Braithwaite et al.2005; Burke et al.2000; Evans et al.1994; Gagnon et al.1996; Hopwood et al.2003; Newman et al.2002; Pieterse et al.2005; Plon et al.2000; Sagi et al.1998). However this was not a consistent finding with one study finding discussions about personal risk to increase perceived risk of breast cancer (Royak-Schaler et al.2002) and several studies finding no significant changes in risk perceptions over time (Broadstock et al.2000; Huiart et al.2002; Keenan et al.2005; Rothemund et al.2001; Wilson et al.2005). Not all studies found the majority of at-risk patients to over-estimate their risk, although those over-estimating their risk were still of a significant minority (Lobb et al.2003; Parsons and Atkinson 1993; Watson et al.1998). There was much evidence of poor recall of objective risk estimates usually provided in genetic counseling, regardless of format (Axworthy et al.1996; Ekwo et al.1985; Hallowell et al.1997; Parsons et al.2003; Swerts 1987; van Dijk et al.2004), with data from only three studies reporting good recall of objective risk estimates for Down’s syndrome (Marteau et al.2000), Alzheimer’s disease (Roberts et al.2005) and cystic fibrosis (Leonard et al.1995). van Dijk et al. (2004) found a high proportion of women who had been provided with personal risk information used words to describe their risk similar to those mentioned in their counseling session, e.g., ‘population risk,’ ‘slightly raised,’ ‘moderately raised’ etc. (van Dijk et al.2004), although these data more likely to demonstrate accuracy of patient recall rather than indicating how patients perceive and understand their risk. Three studies compared perceived genetic risk among families with genetic conditions with the perceived risk among unaffected families (Hallowell et al.1998; Kelly et al.2005; Lobb et al.2003). Two found that most women with a family history of breast cancer tended to perceive themselves as being at a higher risk of breast cancer than women in the general population (Hallowell et al.1998; Kelly et al.2005; Lobb et al.2003), but the other found most participants perceived themselves to be at similar risk (Lobb et al.2003).

Construction and Comprehension of Risk

Nineteen studies explored how individuals construct and interpret risk, looking at the contributing factors and beliefs on which people base their risk perceptions (Callanan et al.1995; d’Agincourt-Canning 2005; Ekwo et al.1985; Fanos and Gatti 1999; Hallowell et al.2004; Hallowell et al.1998; Julian-Reynier et al.1998; Kelly et al.2005; Kenen et al.2003; Liede et al.2000; Robertson 2000; Ryan and Skinner 1999; Scott et al.2005; Sheinfeld Gorin and Albert 2003; Smith et al.2002; van Dijk et al.2004; van Vliet et al.2001; Walter and Emery 2006; Wilson et al.2005). The evidence clearly demonstrates that the construction of risk perceptions is multi-factorial, influenced by: past experiences (Hallowell et al.1998; Smith et al.2002; van Dijk et al.2004), environmental factors (Ryan and Skinner 1999; Sheinfeld Gorin and Albert 2003), occupation (Liede et al.2000), diet (Ryan and Skinner 1999; Wilson et al.2005), stress and worry (Ryan and Skinner 1999), physical resemblance to an affected relative (Fanos and Gatti 1999), as well as genetic or family history factors (Julian-Reynier et al.1998; Liede et al.2000; Ryan and Skinner 1999; Sheinfeld Gorin and Albert 2003; Wilson et al.2005). The evidence also suggests that individuals experience difficulties in understanding numerical risk (Callanan et al.1995; Hallowell et al.1998; Parsons and Atkinson 1993; van Dijk et al.2004; van Vliet et al.2001).

Theoretical frameworks have been developed by psychologists to attempt to describe how individuals construct their perception of risks (Berry 2007). Frameworks which incorporate health beliefs, emotional and societal factors, such as the Theory of Planned Behavior (Ajzen 1985), Common Sense Model of illness perceptions (CSM) (Leventhal et al.1980), and Social Learning Theory (Bringle and Antley 1980), may help to facilitate an understanding of construction of genetic risk perception. However, only four studies in this review used such bases for exploring the construction of risk (Ekwo et al.1985; Kelly et al.2005; Kenen et al.2003; Walter and Emery 2006), focusing specifically on the CSM, the Social Learning Theory and the use of heuristics to make sense of and control risk. This latter approach was used by Kenen et al. (2003) to explore the role of family stories and the use of heuristics in the way women from suspected hereditary breast and/or ovarian cancer families understood their risk in existential and genetic terms. The way information is used and integrated for decision making is often done with heuristics—simple rules of thumb that enable us not to have to undertake detailed cognitive appraisal about the options of every decision (Gigerenzer 1996; Gigerenzer and Edwards 2003; Edwards et al.2001). However, the evidence did not support the applicability of the heuristics framework (Ekwo et al.1985). Greater support was found for the constructs of the CSM, both through the direct application of this framework, and through evidence from other studies.

Walter and Emery (2006) used the CSM (Leventhal et al.1980) as a framework to understand the process of developing and coping with perceptions of risk based upon family history information. The CSM looks at how the cognitive and emotional representations with which individuals construct ideas about an illness determine their coping and emotional responses based on five key constructs: cause; identity; timeline; cure/controllability; consequences. An individual with a family history of a given condition is unlikely to view their risk hypothetically; to them their risk is a reality with both social and family connotation, informing their understanding of risk (Bottorff et al.1998). Therefore individuals fit the risk information they receive into an established causal schema (Bottorff et al.1998). The CSM model recognizes that individuals do not necessarily construct their risk in a rational way, based on the objective risk estimates given in clinic. Instead they are influenced by their experiences and the mechanisms required to cope with that risk.

Data from several of the studies supported the underlying assumption of the CSM; risk perceptions (and usually high levels of perceived risk) are often influenced by individuals’ own personal experiences of illness and their experience of others’ illnesses, e.g., those of family members, despite advice from their clinicians not to make such comparisons (d’Agincourt-Canning 2005; Hallowell et al.1998; Kelly et al.2005; Kenen et al.2004; Robertson 2000; Ryan and Skinner 1999; van Dijk et al.2004; Walter and Emery 2006; Wilson et al.2005). Sheinfeld Gorin and Albert (2003) compared the perceived risk of breast cancer of “Risk Adopters” and “Normalizers.” Normalizers looked to normalize breast cancer, helping women to feel part of a healthier group, hence minimizing or even disputing a high risk status given to them by their clinician, whereas Risk Adopters tended to accept the high risk status given by their clinicians and make normal day-to-day choices based on their risk status (Sheinfeld Gorin and Albert 2003). This illustrates that individuals have a tendency to dichotomize their risk, i.e., either being at (higher) risk, or at average risk.

While the experience of seeing relatives develop a particular disease may increase personal perceptions of risk, there is also evidence to suggest that the way in which their relatives experienced that illness (i.e. was it easily treated or was it a difficult illness which possibly proved fatal) influences the ways in which participants cope with and adjust to their perceived increased risk (d’Agincourt-Canning 2005; Kenen et al.2003). Clients may maintain their perceptions of high risk status, perhaps with a view to accessing medical surveillance which they may not otherwise be entitled to—interpreted as a way of coping and dealing with their risk (Scott et al.2005; Walter and Emery 2006). Those ‘at risk’ of hereditary cancer view themselves as being somewhere on a spectrum between being healthy and being sick and those found to be at low risk would sometimes re-classify their personal perceived risk status to a higher level (Scott et al.2005). Individuals continually adjust their risk perceptions in order to incorporate additional information they may have obtained, or to allow for adjustments in their own health behavior (Robertson 2000).

The applicability of Social Learning Theory (Bringle and Antley 1980) to perceptions of risk among women who accepted and declined the offer of amniocentesis was also explored (Ekwo et al.1985). According to the model, those seeking genetic counseling acquire information (level of information acquisition) on which they elaborate, and which they then use to form concepts (level of understanding). They then apply these concepts to their own life situation (level of personalization). The different stages of learning and information processing are related hierarchically, i.e., personalization cannot occur unless information acquisition and understanding have already happened. Based on this theory, it was assumed that women would first remember their objective genetic risk and then ‘personalize’ it, i.e. adopt a view of how this applies to them (Ekwo et al.1985). Contrary to this assumption however, subjective risk estimates were found to correlate poorly with the ability to identify objective risk correctly for both those accepting and those declining amniocentesis (Ekwo et al.1985), indicating—according to the authors’ interpretation—that genetic decisions are sometimes made without an understanding of the objective genetic risk given. The findings from this study also support the constructs of the CSM, identifying how individuals construct their perceived risk from their experiences (Ekwo et al.1985).

Effects of Perceived Risk

There were 21 studies which provided data on the effects of perceived risk in four main areas: psychological well-being; use of services; uptake of health-related behaviors; and reproductive intentions.

Psychological Well-being

Twenty studies provided data on the effects of risk perceptions on the following outcomes: anxiety and depression; sense of well-being; condition specific worry; emotional stress and coping with risk; and suicide, self-injurious behavior, psychiatric dysfunction.

The quantitative instruments used to measure outcomes such as depression and anxiety, were disparate across studies and included the State Trait Anxiety Inventory (STAI) (Laux et al.1981; Marteau and Bekker 1992; Spielberger 1983; Spielberger et al.1970; Van der Ploeg et al.1980), the Hospital Anxiety and Depression Scale (HADS) (Zigmond and Snaith 1983), the General Health Questionnaire (GHQ) (Goldberg 1972), Geriatric Depression Scale (GDS) (Yesavage et al.1983), Beck Depression Inventory (BDI) (Beck et al.1988; Bouman et al.1985), Hopkins Symptom Checklist (Lerman et al.1991), Center for Epidemiological Studies Depression Scale (CES-D) (Radloff 1977) and the Beck Anxiety Inventory (BAI) (Beck et al.1988).

Evidence for the effects of risk perceptions on outcomes of psychological well-being was not consistent, both within and between different conditions. There was some evidence that the effects of risk assessment or the disclosure of test results does not have an adverse effect on psychological well-being. Higher levels of perceived risk were found to be associated with poorer psychological function (Appleton et al.2000; Brain et al.1999; Brain et al.2002; Decruyenaere et al.1999; Loader et al.2004; Rothemund et al.2001; Sheinfeld Gorin and Albert 2003)—although in two studies this was found for those without a family history of cancer (Frost et al.2000; Rothemund et al.2001)—and sometimes serious morbidity and dysfunction such as suicidal ideation among both carriers and non-carriers of Huntington’s Disease genes (Robins Wahlin et al.2000). However, there were studies which reported no association between risk perceptions and psychological well-being (Axworthy et al.1996; Broadstock et al.2000; Robins Wahlin et al.2000; Royak-Schaler et al.2002; Wilson et al.2005), and others which reported an improvement in psychological well-being when perceptions of risk decreased (Hopwood et al.1998; Plon et al.2000; Roberts et al.2005; Romero et al.2005) with evidence to suggest that removing the uncertainty of risk provides some relief from anxiety (Liede et al.2000). Anxiety before genetic counseling was reported to be a significant predictor of increased perceived risk, however perceived risk was not found to be a predictor of anxiety (Bowen et al.2004). Women at risk of breast cancer with high levels of anxiety were found to have decreased the significance of their risk as a way of coping with their at-risk status, using their access to medical surveillance to reassure themselves and adopting a view that although still at risk, they did not have breast cancer for another year (Parsons et al.2000).

Use of Services

Twelve studies reported evidence of the effects of perceived risk on use of services in three specific areas: uptake and/or interest in prophylactic surgery; uptake and/or interest in genetic testing; adherence to/uptake of screening and surveillance.

Evidence for the effects of perceived risk on the use of services is weak and in some areas contradictory. On looking at the association between risk perceptions and consideration of prophylactic surgery, one study reported no relationship (Appleton et al.2000), another found risk perceptions to influence decisions to undergo prophylactic surgery (Morris et al.2001), and two studies found equivocal evidence (Lim et al.2004; van Dijk et al.2003). There was little evidence of an association between perceived risk and uptake of genetic testing for breast cancer (Appleton et al.2000; Brain et al.2002) and Huntington’s Disease (Binedell et al.1998; Robins Wahlin et al.2000). Evidence for the relationship between perceived risk and screening and surveillance was inconsistent; some evidence suggested that perceptions of being at an increased risk of developing a disease influenced increased uptake of screening, usually mammography (Peshkin et al.2002; Plon et al.2000; Rothemund et al.2001; Sheinfeld Gorin and Albert 2003), or increased breast self-examination (BSE) (Appleton et al.2000; Brain et al.1999), although one study found no significant differences in BSE between women with a family history of breast cancer and women without (Rothemund et al.2001).

Health-related Behaviors

Four studies looked at the effects of risk perceptions on the uptake of health-related behaviors other than the screening examples above, although due to the limited number of papers and the varied assessments of health-related behaviors, the evidence is weak. Some available evidence suggests that knowing about increased risk can motivate the uptake of health behaviors such as changing diet or exercise (Appleton et al.2000; Roberts et al.2005) and stress management (Appleton et al.2000) so as to gain control over risk status and to potentially reduce risk (Appleton et al.2000; Roberts et al.2005; Robertson 2000), although this was not a consistent finding (Robins Wahlin et al.2000).

Reproductive Intentions

Data from five studies looking at reproductive intentions suggest that concerns about an increased risk of having children with cystic fibrosis (Callanan et al.1995; Evers-Kiebooms et al.1988; Swerts 1987; Wertz et al.1992) or Down’s Syndrome (Swerts 1987) influence decisions about future pregnancies, including decisions to undergo prenatal testing. There is evidence of some couples postponing pregnancies or deciding to have fewer children if they found or perceived themselves to be at higher risk (Evers-Kiebooms et al.1988). These decisions appeared embedded in the complex of issues surrounding abortion. Often couples had to reconcile their views of termination with their worries about the health of any future children. In contrast, Axworthy et al. (1996) did not find significant differences between carriers and participants who received a negative test result from testing for cystic fibrosis, in their reproductive intentions or behavior.

Discussion

There is a general assumption in quantitative studies of risk perception that individuals can enumerate their risk and that it is important for them to be able to recall their objective risk estimate accurately. In fact, the evidence suggests that individuals find it difficult to accurately quantify their risk. Most, but not all, studies showed trends towards a decrease in risk perception and greater accuracy (usually after genetic counseling). However, patients’ ability to accurately recall the risk given to them fails to demonstrate whether or not they understand their risk and what meaning they attribute to it. The process by which individuals construct their risk is complex, influenced by many factors including environmental factors, occupation, diet, stress and worry, physical resemblance to an affected relative, as well as genetic or family history factors. Individuals use their framework for understanding risk to aid coping with a risk, which is something that they live with and experience as opposed to being a detached concept. On examining the effects of risk perceptions, research has focused on four key areas; psychological well-being, use of services, health-related behaviors and reproductive intentions. Heterogeneous measurement of perceived risk makes it difficult to draw conclusions. The literature reports inconsistent evidence on the effects of perceived risk, but offers some evidence that high estimations of risk have adverse consequences for psychological health and inappropriate uptake of medical surveillance and preventative treatment in some individuals. Individuals maintain a tendency to overestimate risk, as remaining in a ‘high risk’ category is perceived to offer access to medical screening and surveillance they may otherwise not be entitled to.

Context within the Wider Literature

Understanding Risk

Comparisons with data from studies on related topics show that the findings from this review are consistent with the wider literature on genetics. Other reviews, including systematic and meta-analytic reviews, have primarily focused on cancer genetics and usually more specifically on familial breast cancer. Overall, individuals often have inaccurate perceptions about their risk which are more likely to be over-estimations (Croyle and Lerman 1999; Hopwood 2000). Also, in parallel with the findings of this systematic review, other reviews report a shift towards more accurate risk perceptions following genetic counseling (Butow et al.2003; Meiser and Halliday 2002). However, while much of the research demonstrates an improvement in accuracy of patients’ risk perceptions after genetic counseling, they are not necessarily at the correct level (Hopwood 2000). Furthermore, the evidence is not consistent; for example, a meta-analysis by Katapodi et al. (2004) state that it is reasonable to suppose that women hold an optimistic bias of their risk of developing breast cancer, although the authors note that the findings of their meta-analysis are inconclusive and confounded by interactions with family history, the instruments used to assess perceived risk and the site of recruitment (Katapodi et al.2004).

Risk magnitude is only one characteristic of risk assessment (Hopwood 2000). It is important to incorporate this with individuals’ understanding of risk information, their beliefs about risk, perceived risk factors, and emotional aspects related to their risk status (van Dijk et al.2004). The tendency of some individuals to continue to overestimate their risk, indicates that being able to understand and re-iterate an objective numerical risk estimate is not necessarily their primary goal; rather they are seeking ways in which they can manage and cope with their risk status as indicated by a desire expressed by some to obtain access to health services that are not indicated for their level of risk. Elsewhere in the wider review (Edwards et al.2006), interventions to improve risk communication were appraised, where it was the emotional or supportive elements of genetic counseling which were found to offer more benefits to users than the educational or informational components, also indicating that individuals are primarily concerned with looking for support and ways to cope with their risk.

It may also be the case that individuals have simplified their risk information in order to make sense of it, consistent with ‘Fuzzy Trace’ theory (Reyna and Adam 2003) which looks to identify the specific problems individuals have in understanding and processing risk estimates; complicated information is encoded into a “gist” (Reyna and Adam 2003, p.326) where people have a tendency to use the least precise level of representation that still works for their cognitive processing, in order to facilitate decision making (Reyna and Adam 2003). Within the counseling context, the potential for information overload is recognized, as is the concern that inadequate understanding of the risk of cancer may result in inappropriate decisions about medical management (Frost et al.2004). More is needed than simply asking individuals to provide a quantifiable risk estimate if we are to comprehend their understanding of their risk; their views of the identity and severity of the potential risk, the likelihood of their risk becoming reality under differing circumstances and whether reducing that risk is possible must also be ascertained (Weinstein 1999). This perhaps would provide fuller indication and understanding of the key processes involved in individuals’ construction of risk, which in turn will facilitate counseling to help people understand their risks of disease.

There are several theoretical models potentially relevant to understanding risk and risk communication in clinical genetics including, for example, Theory of Planned Behavior (TPB) (Ajzen 1985), Common Sense Model of illness perceptions (CSM) (Leventhal et al.1980), and Social Learning Theory (Bringle and Antley 1980). However, most studies in this review did not set out primarily to understand the ways in which patients understand and construct their risk. Perhaps because of this, only a few offer insights on which to build theoretical models of the construction, interpretation and the nature of perceived risk within clinical genetics. Support was found for the CSM for exploring construction of risk. Indeed, evidence supporting the underlying assumption of the CSM could be found in several of the included, primarily qualitative, studies; risk perceptions (and usually high levels of perceived risk) are often influenced by individuals’ own personal experiences of illness and their experience of others’ illnesses, despite advice from their clinicians not to make such comparisons (d’Agincourt-Canning 2005; Hallowell et al.1998; Keenan et al.2005; Kelly et al.2005; Kenen et al.2003; Robertson 2000; Ryan and Skinner 1999; van Dijk et al.2004; Walter and Emery 2006; Wilson et al.2005).

The CSM is beginning to receive attention in the wider genetics literature. Marteau and Weinman (2006), for example, used the CSM to explore the possibility of explaining and predicting aspects of genetic risk information likely to motivate risk-reducing behavior changes. They argue that the motivational impact of genetic risk information is dependent on two key processes which are at the heart of the CSM—how information is represented and how that representation is translated into a behavioral response (Marteau and Weinman 2006). How well a given health threat corresponds with an individual’s cognitive representation of that threat will determine the impact that threat has, triggering corresponding coping responses (Marteau and Weinman 2006). The CSM has also been proposed to be a useful framework for conceptualizing genetic counseling; within the context of genetic counseling, variations in cognitive representations could lead to differences in the risks/costs and benefits of taking a particular action when presented with a medical decision (Shiloh 2006). Genetic counseling could be seen to both affect, and be affected by, illness cognitions, risk perceptions, negative affects and counseling-related decisions, all interconnected and influenced by ‘background’ factors such as family influences, ethical values, personality and perceived and actual efficacy of genetic testing (Shiloh 2006).

Theoretical models can also serve to provide some insight into the effects of risk perception on decision making and health behavior. Indeed, understanding motivators of protective health behaviors following risk communication will help to identify which constructs of counseling or interventions need to be targeted to in order to tailor risk communication appropriately. This may be particularly important as knowledge of genetic risk has increasing implications for wider public health but the interventions must also be targeted efficiently. When looking at interest in uptake and outcomes of genetic testing for adult-onset disease, Gooding et al. (2006) argue that theories focusing on stress and coping, such as the CSM, TPB, Health Belief Model and the Transactional Model of Stress and Coping, provide useful frameworks. The TPB (Ajzen 1985) in particular, has been extensively found outside the genetics literature to predict a wide range of behaviors, accounting for significant variation in intentions and actions (Ajzen 1991). According to the TPB, whether someone intends to behave in a certain way depends on the extent to which they perceive themselves to be in control of a given situation (volitional control), as well as their attitude towards that behavior (a function of the perceived consequences of participating and a personal evaluation of those consequences) and the perceived social norm (a function of the perceived expectations to participate and the motivation to comply with those expectations). These are relevant and potentially valuable ways of designing personal and public health and risk management interventions. As with the CSM, the TPB is receiving increasing attention in the genetics literature. For example, in a study looking at factors predicting intention to take a genetic test for Alzheimer’s disease (AD), just over 50% of the variance in intentions was related to the components of the TPB (Frost et al.2001). Attitudes have also been found to be the strongest predictor of intention to take a genetic test in both members of the general public and individuals in familial adenomatous polyposis (FAP) families (Nordin et al.2004). Research is also currently being undertaken to use both the CSM and TPB as a basis for exploring the acceptability of genetic testing and preventive treatment in relatives of individuals with Paget’s disease of the bone (Langston et al.2006).

Effects of Perceived Risk

The conflicting evidence of the effects of perceived risk is also reflected in the wider cancer genetics literature. A meta-analysis found genetic counseling to lead to a statistically significant decrease in general anxiety and improved the accuracy of risk perceptions (Meiser and Halliday 2002), a finding refuted in a later systematic review which did not find genetic counseling to have an influence on affective outcomes (Braithwaite et al.2004). Meiser et al. examined psychological impacts relating to genetic counseling, in cancer (Butow et al.2003; Meiser 2005; Meiser and Halliday 2002) and Huntington’s disease (Meiser and Dunn 2000). Reflecting the findings of our review, the evidence was limited by the relatively short-term follow-up (Meiser 2005) and heterogeneity of methods (Butow et al.2003). Similar to the findings of Hopwood et al. (1998), Butow et al. (2003) concluded that carriers of mutations in cancer predisposition genes did not experience a significant increase in levels of depression and anxiety after learning their carrier status, with non-carriers experiencing a significant relief. It was those who decided they did not want to know their carrier status, despite being tested, who appeared to be at an increased risk of poorer psychological health (Butow et al.2003).

The wider literature also reflects the inconsistencies of the relationship between risk perceptions and use of services. While it was difficult to draw firm conclusions about the effect on uptake of genetic testing, there is evidence in the wider literature supporting a relationship between perceived risk and uptake of testing. In a systematic review, Croyle and Lerman (1999) found high levels of perceived risk to strongly influence decision making about genetic testing, where exaggerated risk perceptions were found to drive testing decisions more so than objective risk status (Croyle and Lerman 1999). Similarly, Katapodi et al. (2004) also conclude that women with high levels of perceived risk are more likely to go for genetic testing or undergo prophylactic surgery.

In a systematic review looking at the uptake of genetic testing and coping strategies of cancer patients, anxiety levels were found to be higher among those who decline to be tested than those receiving genetic test results, either positive or negative, offering an explanation as to why some people may choose not to undergo testing, i.e., as a coping mechanism through avoidance (Case et al.2005). There is also evidence in the wider literature that some individuals found to be at low or average risk resent exclusion from surveillance programs (Young et al.2006) and want their objective risk ‘increased’ so as to be eligible for screening (Scott et al.2005), supporting some of the evidence in this review. However, and perhaps more reflective of the findings of our review, a meta-analysis of predictors of perceived breast cancer risk and the relationship between perceived risk and breast cancer screening, concluded that it is unclear whether perceived risk influences adherence to BSE (Katapodi et al.2004).

There is little wider literature about the influence of perceived risk on reproductive decision making. Overall, we found that concerns about an increased risk of having a child with a given genetic condition (Callanan et al.1995; Evers-Kiebooms et al.1988; Swerts 1987; Wertz et al.1992) influences decisions concerning future pregnancies, often amongst decisions to undergo prenatal testing. Gates (2004) notes that it is not the factual information provided in prenatal counseling which helps women’s decision making, rather their understanding of that information. This reflects the evidence from this review as clearly more than just perceived risk influenced the decision-making of the participants in these studies. They also had to reconcile their concerns about risk with their moral stance on issues surrounding termination of pregnancy (Wertz et al.1992).

Strengths and Weaknesses of this Review

The literature search was comprehensive, based on a high recall, low precision strategy, meeting most of the AMSTAR (2005) criteria, with at least two reviewers involved with study selection and data extraction in all cases. Due to the heterogeneous nature of study designs and outcomes, meta-analysis of the data was not possible. The majority of the identified literature focused on cancer genetics, often on breast/and ovarian cancer. The range of other clinical conditions/contexts addressed by the research was limited; therefore caution is needed when extrapolating conclusions to other conditions. Construction of risk also needs to be understood within the context of differing cultures and educational levels as these factors could potentially impact on both risk perception and subsequent service-use. However, research looking at different cultures or ethnic minorities was also extremely limited, focusing primarily on Caucasian populations.

Methods used to assess risk perceptions across the studies were inconsistent in both the ways in which risk perceptions were assessed and the time-points at which they were measured, making it difficult to make direct comparisons. As we did not psychometrically appraise these instruments we are unable to make any recommendations as to which is most valid for future research. However, a variety of approaches such as those suggested by Weinstein (1999) to ascertain what individuals understand about their risk and the implications would arguably be more beneficial than simply asking them to provide a quantifiable risk estimate. Similarly, the measures and analyses used to examine the effects of risk perceptions were also inconsistent, with limitations in the length of follow-up (if at all), hindering assessment of potential causal inferences. Instruments to measure effects of risk perceptions, i.e., measures of anxiety and depression also varied widely, again making comparisons difficult. Furthermore, the development of a theoretical framework of the construction of perceived genetic risk is also lacking in the literature. Appropriate theoretical models of risk perception may facilitate the development of a standardized measure of risk perception, enable identification of the impact risk perception may have on decision making and uptake of risk management behaviors, and provide greater insight into those aspects of risk communication which could be best tailored to meet the individuals’ needs. A more consistent approach to assessing the effects of perceived risk is needed to be able to compare the evidence. At present the available evidence makes it difficult to determine whether more harm than good is being done and enable development of more effective and patient-centered risk communication strategies in clinical practice.

Further Research

Studies of risk perception often make the assumption that individuals have a quantitative notion of risk which can be measured in various ways. However, the evidence also demonstrates that risk is something experiential and is not something individuals can easily quantify. There is a need for further exploration of how individuals view, construct and interpret their risk and how influential their understanding, experiences and beliefs influence are. The development of stronger theoretical models of the construction, interpretation and nature of perceived risk which integrates the individual’s experiences, beliefs and other social and cultural influences (Croyle and Lerman 1999) would lead to a more comprehensive and consistent account of the nature and effects of perceived risk on the health and well-being. This will also lead to a better understanding of the effects perceived risk has on health and well-being of participants and their risk-management decisions. We are aware of research which is currently being carried out using the CSM and TPB to look at issues concerning genetic testing and preventive treatments for Paget’s disease (Langston et al.2006). This is an area which could be developed further, for example comparing the utility of the CSM and TPB in predicting decision making within the context of potentially life threatening decisions both with and without calculated risk information and detailed information on the costs and benefits of undergoing testing or treatment. Such concerns could also be applied to a wider health care context and not just confined to clinical genetics. An alternative approach could be to identify the heuristics which function between risk information, cognitive representations of threat and coping procedures. The way we integrate and use information for decision making is often done with heuristics—simple rules of thumb that enable us not to have to undertake detailed cognitive appraisal about the options of every decision (Edwards et al.2001; Gigerenzer 1996;Gigerenzer and Edwards 2003). Identifying such heuristics may help to develop more effective ways of communicating risk (Marteau and Weinman 2006).

An understanding of how risk information is processed and understood and the ways in which this will affect health-related behavior could facilitate risk communication for a range of health care contexts. This is an area currently being researched in the clinical genetics sphere with results to be published soon (Marteau et al., 2007) Also, it is important to explore the varying circumstances and influences that may lead to avoidance of information, decision making or use of services. This may be by type and severity of disease, likelihood of developing disease, and socio-demographic factors (Case et al.2005). There is also a need for research addressing risk perception and communication within the context of differing cultural backgrounds and ethnicity.

Implications for Practice and Conclusions

Risk communication is an activity central to most if not all areas of genetic counseling. This review highlights a tension between studies that address understanding of risk as a numerical entity to be recalled and/or modified (usually after genetic counseling) and those that demonstrate that understanding of risk is a process of making meaning and responding to the potential threat that risk represents. When risk communication is described as a two-way exchange of information and opinion about risk (Ahl et al.1993, 1047), genetic counseling can be seen to assimilate these different perspectives, providing ‘objective’ information while also giving the individual an opportunity to explore the understanding they hold of their situation and the meaning they make of any new information.

The factors influencing the process by which individuals construct their risk will have often been seen in clinical settings by genetic counselors: e.g. environmental factors, occupation, diet, stress and worry, physical resemblance to an affected relative, as well as genetic or family history factors. Theoretical frameworks can provide useful models for genetic counselors to understand the complex process by which clients make sense of potentially threatening information and respond to it. In this regard, the Common Sense Model of illness perceptions (CSM) (Leventhal et al.1980) was supported by studies directly investigating its relevance as well as by other qualitative studies reviewed here. Research using such models as their conceptual basis should progress understanding of the ways in which individuals construct and interpret their risk. This review has not identified a clear impact positively or negatively of genetic counseling on risk perception and psychological outcomes, partly due to the heterogeneous nature of research and the instruments used. Insights gained from focused research clarifying the processing of risk information and construction of risk may inform genetic counseling and facilitate the provision of counseling tailored to individual perceptions of risk and responses to threatening information.

Acknowledgements

The authors would like to thank all members of the GENVIEW steering group, especially Alastair Kent, Melissa Winter, Jonathon Gray, Paul Atkinson and Nicholas Lench. Particular thanks go to Engy Hussein for her administrative support throughout the project. This project was funded by the Department of Health in the UK (Grant HSR03A). There are no conflicts of interest.

Copyright information

© National Society of Genetic Counselors, Inc. 2007