Evolving perspectives on genetic discrimination in health insurance among health care providers
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- Huizenga, C.R., Lowstuter, K., Banks, K.C. et al. Familial Cancer (2010) 9: 253. doi:10.1007/s10689-009-9308-y
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Previous studies have documented that concerns about genetic discrimination (GD) may influence access to and participation in medically necessary care. We sought to characterize how GD issues influence current cancer genetics professional (CGP) practice, determine if their attitudes regarding GD have changed over time, and compare their knowledge and attitudes regarding laws prohibiting GD to a contemporary cohort of non-genetics clinicians. Members of the National Society of Genetic Counselors Familial Cancer Special Interest Group were invited to complete a 39 item online survey, adapted from previously published instruments. The resulting data were compared to a survey of CGPs published in 2000 and to a contemporary cohort of non-genetics clinicians (n = 1,181). There were 153 qualified respondents. Compared to the historical CGP cohort (n = 163), a significantly greater proportion said they would bill insurance for the cost of genetic testing for themselves (P < 0.0001). Most CGPs (94%) considered the risk of GD to be low to theoretical, concordant with 64% who expressed confidence in existing federal laws prohibiting GD. The mean knowledge score of CGPs regarding GD protective laws was significantly greater than that of non-genetics clinicians (P < 0.001). As barometers of change, CGPs show a migration in opinion over the past 8 years, with decreased fear of GD and greater knowledge of laws prohibiting GD compared to non-genetics clinicians. Better knowledge of GD and protective legislation, may facilitate non-genetics clinician utilization of genetics and personalized medicine.
KeywordsGenetic discriminationCancer geneticsGenetic testingHealth insuranceCancer genetics professional
Genetic Cancer Risk Assessment (GCRA) has emerged as a distinct area of practice for genetics professionals. The greatest experience and application to date is with hereditary breast and ovarian cancer (HBOC), associated with mutations in BRCA1 and BRCA2, and Lynch syndrome, also known as hereditary nonpolyposis colorectal cancer (HNPCC), associated with mutations in the mismatch repair (MMR) genes MLH1, MSH2, MSH6, and PMS2. Genetic testing for these and other hereditary cancer syndromes has become standard of care in part due to the documented efficacy of screening and risk reduction interventions.
Concern about genetic discrimination (GD) has been identified as a barrier to GCRA and cancer predisposition genetic testing by patients and clinicians in the United States [1–12]. Genetic discrimination refers to discrimination directed against an individual or family “based solely on an apparent or perceived genetic variation from the ‘normal’ human genotype”  and applies primarily to those who are not affected with the condition .
US state protective legislation: genetics and health insurance
Components of protective legislation
Prohibits establishing eligibility rules based on genetic information
Prohibits requiring genetic tests or information from applicants
Prohibits use of genetic information for risk selection or classification
Prohibits disclosure of information without informed consent
# of states
State has laws in all 4 categories and covers group and individual policies
State has laws in all 4 categories but covers only group or individual policies, OR
State has laws in 3 categories, OR
State has laws in 2 categories and covers group and individual policies
State has laws in <2 categories but covers only group or individual policies, OR
State has laws in 1 category
State has no protective legislation
Despite protective legislation and the lack of well-documented cases of health insurance GD, recent studies have shown that patients and non-genetics clinicians continue to perceive the risk of GD to be high, which may be a barrier to obtaining medically necessary care [1–3, 5, 12, 16–18]. A survey of 163 cancer genetics professionals (CGPs) conducted in 1998 found that 68% would not bill insurance for the cost of genetic testing due to fear of GD . A 2003 study of a small sample (n = 25) of CGPs found a lower level of fear of potential GD (84% believed the risk of GD to be low, very low, or theoretical), suggesting a possible shift in attitudes over time . We recently surveyed 1,121 non-genetics clinicians in California and documented perceptions of high risk for GD and little knowledge of existing protective legislation .
We hypothesized that CGPs, who provide education and facilitate genetic testing for hereditary cancer syndromes, may be a barometer for changing perspectives about GD. Therefore, we surveyed a current cohort of CGPs regarding their knowledge, practices, and beliefs about health insurance GD to assess whether beliefs have evolved over time, and whether knowledge of laws protecting against GD is different for CGPs and non-genetics clinicians.
A quantitative, cross-sectional survey of the 450 members of the National Society of Genetic Counselors (NSGC) Familial Cancer Special Interest Group (Cancer SIG) listserv was conducted and the results were compared to two previous studies (cohorts described below). The NSGC is an international society of health care professionals, primarily genetic counselors (96%), involved in providing genetics services. The NSGC Cancer SIG is open to all NSGC members interested in cancer genetics.
A 39-item survey was created using SurveyMonkey  as a composite of three previously published instruments, and included additional items created specifically for this study [1, 19, 20]. The survey contained items on demographics (10 items), knowledge of US federal and state protective legislation (3 items), attitudes and behavioral intent regarding GD (11 items), practices related to GD (13 items), and open ended questions (2 items). Five items on behavioral intent were taken from Matloff et al.  and three items on professional practices were adapted from Pfeffer et al.  Coefficient alpha values for internal consistency/reliability for validated items (n = 4) used previously in Lowstuter et al.  were as follows: attitudes toward genetic testing (2 items) 0.65; and knowledge of GD protective laws (8 sub-items within 2 items) 0.77.
Questions were Likert-scale, multiple-choice, true/false, or fill-in-the-blank format. An expert panel (n = 6) including genetic counselors, research coordinators, and doctoral level nurses piloted the survey and recommendations were incorporated and re-tested prior to survey distribution.
The study was approved by the California State University, Northridge Institutional Review Board. A letter of explanation and invitation to participate was e-mailed to the NSGC Cancer SIG listserv and contained a link to the online survey. Five reminders were sent to the listserv according to a modified Dillman’s methodology . The first page of the survey made explicit the voluntary and anonymous nature of the study. Participant consent was implied by reading this page and continuing with the survey and the website randomly assigned a study ID number to each completed survey. The survey was open from January 22, 2007 through March 9, 2007 and a log of potential validity threats was kept throughout this time period.
The CGP comparison data were obtained from a 1998 study of NSGC Cancer SIG members . There were 163 respondents (a 55% response rate); 93% were female and 76% had a masters degree in genetic counseling.
The non-genetics clinician comparison data were obtained from our recent survey of California non-genetics clinicians regarding cancer genetics and GD, conducted from November 2004 through December 2006 . Of the 1,181 non-genetics clinician participants, 62.2% were physicians, 37.8% were nurses, 47.3% were male, 52.7% were female.
Data were analyzed using SPSS version 8.0 (SPSS Inc., Chicago, Illinois) and SAS version 9.0 (SAS Institute, Inc., Cary, North Carolina). We excluded student respondents and those who quit the survey prior to completing the knowledge portion. Respondents who live outside the United States only answered items related to behavioral intent and practice as the GD legislation knowledge items were not applicable. Knowledge questions were coded as correct or incorrect (“uncertain” was considered incorrect) and a knowledge score (percent answered correctly) was calculated for each participant. Statistical comparisons were performed using t-tests, chi-square, and Pearson correlations. Probability values less than 0.05 were used to represent statistical significance.
Tables from the Matloff et al.  study state how many participants answered each question, however, the number who answered “yes” and the number who answered “no” does not add up to that total. This implies that another response such as “uncertain” was allowed, however, the authors were not able to confirm whether or not this was the case. Consequently we excluded responses of “uncertain” for the Matloff et al.  comparison questions in this study.
PhD Medical geneticist
Years providing cancer genetics services
Never provided cancer genetics services
Number of patients counseled for hereditary cancer risk in the past 12 months:
University or academic health center
Private medical facility
Public medical facility
Health maintenance organization
Physician’s private practice
Attitudes and behavioral intent regarding genetic testing and genetic discrimination
BRCA and HNPCC genetic testing decisions among CGPs
Matloff et al. study
If your own risk to carry a BRCA mutation was determined to be 50%, do you think you would undergo genetic testing?
If your own risk to carry an HNPCC mutation was determined to be 50%, do you think you would undergo genetic testing?
If you did choose to undergo genetic testing, would you:
a. bill the charges to your insurance company?
b. use an alias?
c. share this information with your physician?
d. share this information with family members?
e. share this information with friends?
f. share this information with colleagues?
Ninety-four percent of participants in the current study believed the level of GD risk to be low, very low, or theoretical (22, 40, and 32% respectively). Only 6% believed the risk to be moderate and none perceived the risk to be high or very high. The majority felt very or somewhat confident in the ability of US federal and state laws to protect against GD for hereditary cancer (64 and 70%, respectively), 11% were neutral, and a minority felt somewhat unconfident (15 and 7%) or not at all confident (9 and 5%) in the US federal and state laws.
CGP and non-genetics clinician genetic discrimination beliefs
Genetic testing is likely to be declined by patients because of fear of health insurance discriminationa
Genetic testing creates health insurance problems for my patients who have or have had cancerb
Genetic testing creates health insurance problems for my patients who have not had cancerc
5 Strongly disagree
1 Strongly agree
Mean Likert score
Genetic discrimination discussions with patients
Discussion of genetic discrimination with patients
How often do you discuss genetic discrimination with your patients? (n = 151)
How reassuring do you think you are to your patients regarding the risk of genetic discrimination? (n = 150)
Not at all
With respect to requests from patients for confidential genetic testing in the past year, 41% of CGPs have not received any and 64% have not facilitated confidential testing for any patients (Table 5).
Knowledge of protective legislation regarding genetics and health insurance
Knowledge of US federal and state protective legislation regarding genetics and health insurance among CGPs and non-genetics clinicians
Correct non-genetics clinicians
The health insurance portability and accountability act of 1996 (HIPAA)…
(n = 149)
(n = 1,155)
…prohibits health insurance discrimination in the group insurance market on the basis of genetic test results
…prohibits health insurance discrimination in the individual insurance market on the basis of genetic test results
…defines genetic information
…states that genetic information can be considered a pre-existing condition
Most CGPs (93%) correctly identified whether or not the state in which they practice has protective legislation related to genetics and health insurance and whether the laws apply to group health insurance. The majority correctly identified whether or not their state laws prevent insurers from establishing eligibility rules based on genetic information (76%), prohibit insurers from requiring genetic testing or genetic information (62%), or prevent the use of genetic information for risk selection or risk classification purposes (64%). Only 49% knew whether their state requires written consent for disclosure of genetic test results to any third party by an insurance company and 42% knew whether the legislation applied to individual health insurance policies. The mean State Protective Legislation knowledge score among CGPs (69%) was significantly greater than that of California non-genetics clinicians (33%; P < 0.001, Table 6). California CGPs (n = 19) had a similar mean State Protective Legislation knowledge score (74%) to that all CGPs, which was therefore also significantly greater than that of California non-genetics clinicians (P < 0.001).
Our study indicates a notable change in perceptions and behavioral intent among CGPs over time, with decreased fear of GD since 1998 when the previous study  was conducted. Further, non-genetics clinicians have a significant gap in knowledge compared to CGPs and their behavioral intent is influenced by GD perception. The greater confidence expressed by CGPs may be due, in part, to greater awareness of increased legislative protections that have been passed since 1998, as well as the lack of documented cases of GD in the intervening decade.
Several studies have reported a high perceived risk of GD among non-genetics health care providers [2, 3, 24]. Our study demonstrates that CGPs believe the risk for GD to be significantly lower than non-genetics clinicians, who also perceive their patients to have a higher level of fear of GD. Critically, the non-genetics clinicians in our study who believed there to be a significant risk of GD were less likely to refer patients for GCRA (OR = 0.8; P < 0.05) .
GINA prohibits employers from requesting, requiring, or purchasing genetic information, requiring an individual to take a genetic test as a condition of employment, or discriminating on the basis of genetic information.
GINA does not apply to individuals who have a “manifestation of a disease, disorder, or pathological condition.”
GINA prohibits health insurance companies from denying or canceling coverage based on genetic information or from using genetic information to determine premiums. Since GINA does not provide comprehensive protection against GD outside of health insurance and employment protections and only applies to those who are asymptomatic, it remains unclear whether GINA will affect the willingness of at-risk individuals to undergo genetic testing [25, 26]. Additionally, Rothstein cited systematic problems with the handling of medical records; specifically that broad disclosure of records when only specific data are necessary is already a problem and will only be more problematic as institutions increasingly employ electronic medical records . This emphasizes the continued importance of state legislation to fill in the gaps left by federal legislation.
Due to the sample size, we cannot rule out bias since most participants (86%) came from states with moderate or comprehensive protective legislation. However, this mirrors the state GD legislative protections in the nation as a whole (Table 1) and the practical value of the observation stands: the most populous states tend to have the greatest GD protective legislations and the largest numbers of CGPs. Thus, we believe that given the emerging limitations of GINA, the combination of state and federal legislation may be important in patient protection and as items about which health care providers must be knowledgeable.
Fewer CGPs said that they did not receive any requests for confidential testing than said that they did not facilitate it. This implies that some participants are receiving requests for confidential testing that they are not facilitating, suggesting that CGPs are either refusing to facilitate confidential testing or more likely, indicates that counseling has value in educating and reassuring patients about legal protections.
Previous studies have shown that among primary care providers and other non-cancer genetics professionals, perceived risk of GD is high while knowledge of existing protective legislation is low [1–3]. The results of this study show that CGPs have significantly greater knowledge of GD protective laws than non-genetics clinicians and a low perceived risk of GD. It also appears that CGPs’ knowledge of protective legislation has increased since a 2000 study by Hall and Rich .
Although our 153 respondents represented 36% of the sample, this was approximately the same size as the Matloff et al.  cohort (n = 163) and the demographic composition was comparable to that of the NSGC membership . In addition, the non-genetics clinician sample represented only California practitioners, while the CGP participants practiced in 36 different states, with varying protective laws, many of which were less comprehensive than California. Consequently, the observed difference in awareness about legal protections and greater confidence on the part of CGPs is likely an underestimate of the differences.
One of the two items on state law knowledge contained six sub-items which were adapted from Lowstuter et al.  to be generalizable because of the differences in state of residence for participants in the two studies. Four of the six sub-items were used in both studies.
In the survey instrument, confidential genetic testing was defined as testing that the patient pays for out-of-pocket or that involves using a number identifier or alias rather than the patient’s name. It is apparent, based on seven open responses to the survey, that some respondents included patients who pay for genetic testing out-of-pocket (the results of which still go in the medical record) in their response to the question asking under what conditions they are willing to facilitate confidential testing. It is possible that others misinterpreted the definition as well, possibly inflating the amount of confidential genetic testing that they reported.
As with all voluntary surveys, there may have been a response bias such that CGPs with a greater interest in GD may have been more likely to complete the survey. Such individuals may have had greater knowledge of GD protective laws, more extreme beliefs, or different practices regarding GD.
One potential threat to validity was a presentation by Mark Hall, JD on GD at the 2006 National Society of Genetic Counselors Annual Education Conference . This presentation could have influenced the knowledge level of study participants who attended it (51%). However, there was no significant difference in knowledge score between those who did and did not attend this talk.
This study demonstrated a decrease in concern regarding GD among CGPs over the past 8 years. This may be partially due to increased awareness of GD protective laws or due to the fact that the laws are now more well-established. This study found that CGPs, clinicians who discuss genetic testing routinely in their practice, have a higher level of knowledge about GD protective legislation than non-genetics clinicians, for whom it is not a routine topic of discussion.
Increased knowledge among providers and the lay public about laws protecting against GD along with apparent lack of documented cases of GD or adverse experiences for patients, should lead to decreased fear of GD and increased appropriate referral for genetics services among non-genetics clinicians, increased uptake of genetic testing among patients, and ultimately, better patient care. This process may be facilitated by development of educational tools for patients and providers. Future studies should be done to monitor the awareness and impact of GINA on practice.
We acknowledge Dr. Gwen Uman for her assistance with data analysis, Dr. Cindy Malone for her contributions to this project, and Janelle Hilario and Shawntel Payton for their assistance with preparation of the manuscript. This project was funded in part by the State of California, Department of Health Services, Cancer Research Program, NHGRI grant number R03 HG002846-01, and the California State University, Northridge Thesis Support Program.