Skip to main content

Advertisement

SpringerLink
Log in

Families’ experience of oncogenetic counselling: accounts from a heterogeneous hereditary cancer risk population

  • Original Article
  • Published:
Familial Cancer Aims and scope Submit manuscript

Abstract

This paper reports the results of semi-structured family interviews conducted with a purposive sample of nine families (comprising 50 individuals) involved in cancer genetic counselling at a Portuguese public hospital. Qualitative analysis resulted in thematic categories illustrating: (1) how families go through cancer genetic counselling (eliciting risk awareness, the motivators, risk management, the psychosocial context of familial engagement in genetic counselling, and the familial pathways of cancer risk tracking); and (2) how families incorporate genetic risk into family life (strategies for family resilience, and the meanings and values that permeate the experience). Families have recognised the value of genetic counselling in enabling participants to take measures to confront disease risk; however, the experience was dominated by distressing feelings. A set of ethical-relational principles guided the experience. Familial experiences on genetic counselling and tracking of cancer susceptibility encompass a sense of trajectory that takes the form of an historical and intergenerational narrative process, linking past, present and possible futures. Such process implies an ongoing set of individual and interactional experiences taking place over time. Specific changes associated with the illness timeline and with individual and family developmental lifespan transitions are thus acknowledged. These results may help genetics healthcare practitioners understand how families perceive, respond to and accommodate cancer risk counselling, and thus illuminate family-oriented tenets for planning and practice.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  1. Featherstone K, Atkinson P, Bharadwaj A, Clarke A (2006) Risky relations: family, kinship and the new genetics. Berg, Oxford

    Google Scholar 

  2. Richards M (1996) Families, kinship and genetics. In: Marteau T, Richards M (eds) The troubled helix: social and psychological implications of the new human genetics. University Press, Cambridge, pp 249–273

    Chapter  Google Scholar 

  3. McDaniel S (2005) The psychotherapy of genetics. Fam Proc 44(1):25–44

    Article  Google Scholar 

  4. Rolland J, Williams J (2005) Toward a biopsychosocial model for 21st century genetics. Fam Proc 44:3–24

    Article  Google Scholar 

  5. Peterson S (2005) The role of the family in genetic testing: theoretical perspectives, current knowledge, and future directions. Health Educ Behav 32(5):627–639

    Article  PubMed  Google Scholar 

  6. Peters JA, Djurdjinovic L, Baker D (1999) The genetic self: the Human Genome Project, genetic counseling, and family therapy. Fam Syst Health 17:5–24

    Article  Google Scholar 

  7. Novas C, Rose N (2000) Genetic risk and the birth of the somatic individual. Econ Soc 29(4):485–513

    Article  Google Scholar 

  8. Sobel S, Cowan D (2000) Impact of genetic testing for Huntington disease on the family system. Am J Med Genet 90:49–59

    Article  PubMed  CAS  Google Scholar 

  9. Sobel S, Cowan D (2000) The process of family reconstruction after DNA testing for Huntington disease. J Genet Couns 9(3):237–251

    Article  Google Scholar 

  10. Palmquist A, Koehly LM, Peterson SK, Shegog M, Vernon S, Gritz E (2009) “The cancer bond”: exploring the formation of cancer, risk Perception in families with Lynch syndrome. J Genet Couns 19(5):473–486

    Article  Google Scholar 

  11. Hallowell N, Ardern-Jones A, Eeles R, Foster C, Lucassen A, Moynihan C, Watson M (2005) Family communication about predictive BRCA1/2 genetic testing: patterns, priorities and problems. Clin Genet 67:492–502

    Article  PubMed  CAS  Google Scholar 

  12. Schneider K (2002) Counseling about cancer: strategies for genetic counselling, 2nd edn. Wiley-Liss, Inc., New York

    Google Scholar 

  13. Hodgson S, Foulkes W, Eng C, Maher E (2007) A practical guide to human cancer genetics. University Press, Cambridge

    Google Scholar 

  14. Esplen MJ, Madlensky L, Butler K, McKinnon W, Bapat B, Wong J, Aronson M, Gallinger S (2001) Motivations and psychosocial impact of genetic testing for HNPCC. Am J Med Genet 103(1):9–15

    Article  PubMed  CAS  Google Scholar 

  15. Patenaude A (2005) Genetic testing for cancer: psychological approaches for helping patients and families. American Psychological Association, Washington, DC

    Book  Google Scholar 

  16. Evers-Kiebooms G, Welkenhysen M, Claes E, Decruyenaere M, Denayer L (2000) The psychological complexity of predictive testing for late onset neurogenetic diseases and hereditary cancers: implications for multidisciplinary counselling and for genetic education. Soc Sci Med 51:831–841

    Article  PubMed  CAS  Google Scholar 

  17. Van Oostrom I, Meijers-Heijboer H, Duivenvoorden HJ, Bröcker-Vriends AH, van Asperen CJ, Sijmons RH et al (2007) Family system characteristics and psychological adjustment to cancer susceptibility genetic testing: a prospective study. Clin Genet 71(1):35–42

    Article  PubMed  Google Scholar 

  18. Bakos AD, Hutson SP, Loud JT, Peters JA, Giusti RM, Greene MH (2008) BRCA mutation-negative women from hereditary breast and ovarian cancer families: a qualitative study of the BRCA-negative experience. Health Expect 11:220–231

    Article  PubMed  Google Scholar 

  19. Hamilton R, Williams JK, Bowers B, Calzone K (2009) Life trajectories, genetic testing, and risk reduction decisions in 18–39 year old women at risk for hereditary breast and ovarian cancer. J Genet Couns 18(2):147–159

    Article  PubMed  Google Scholar 

  20. Boenink M (2007) Genetic diagnostics for hereditary breast cancer: displacement of uncertainty and responsibility. In: de Vries G, Horstman K (eds) Genetics from laboratory to society. Palgrave/Macmillan, New York, pp 37–63

    Google Scholar 

  21. Forrest L, Curnow L, Delatyicki M, Skene L, Aitken M (2008) Health first, genetics second: exploring families’ experiences of communicating genetic information. Eur J Hum Genet 16:1329–1335

    Article  PubMed  Google Scholar 

  22. Wilson BJ, Forrest K, Teijlingen ER, McKee L, Haites N, Matthews E et al (2004) Family communication about genetic risk: the little that is known. Community Genet 7(1):15–24

    Article  PubMed  Google Scholar 

  23. Keenan K, Simpson S, Wilson B, Teijlingen E, McKee L, Haites N et al (2005) ‘It’s their blood not mine’: who’s responsible for (not) telling relatives about genetic risk? Health Risk Soc 7(3):209–226

    Article  Google Scholar 

  24. Rhodes R (1998) Genetic links, family ties, and social bonds: rights and responsibilities in the face of genetic knowledge. J Med Philos 23:10–30

    Article  PubMed  CAS  Google Scholar 

  25. Peterson SK, Watts BG, Koehly LM (2003) How families communicate about HNPCC genetic testing: findings from a qualitative study. Am J Med Genet 119C:78–86

    Article  PubMed  Google Scholar 

  26. Julian-Reynier C, Eisinger F, Chabal F, Lasset C, Nogues C, Stoppa-Lyonnet D et al (2000) Disclosure to the family of breast/ovarian cancer genetic test results: patient’s willingness and associated factors. Am J Med Genet 94:13–18

    Article  PubMed  CAS  Google Scholar 

  27. McCann S, MacAuley D, Barnett Y, Bunting B, Bradley A, Jeffers L et al (2009) Family communication, genetic testing and colonoscopy screening in hereditary non-polyposis colon cancer: a qualitative study. Psychooncology 18:1208–1215

    Article  PubMed  Google Scholar 

  28. Koehly L, Peterson S, Watts B, Kempf K, Vernon S, Gritz E (2003) A social network analysis of communication about Hereditary nonpolyposis colorectal cancer genetic testing and family functioning. Cancer Epidemiol Biomarkers Prev 12:304–313

    PubMed  Google Scholar 

  29. Kenen R, Arden-Jones A, Eeles R (2004) Healthy women from suspected hereditary breast and ovarian cancer families: the significant others in their lives. Eur J Cancer Care 13:169–179

    Article  CAS  Google Scholar 

  30. Street E, Soldan J, Gray J (2000) A family affair: themes and perspectives of counselling in genetic services. Counsel Psychol Rev 15:4–11

    Google Scholar 

  31. Brouwer-Dudokde W, Savenije A, Zoeteweij M, Maat-Kiewit A, Tibben A (2002) A hereditary disorder in the family and the family life-cycle: Huntington’s disease as a paradigm. Fam Proc 41(4):677–692

    Article  Google Scholar 

  32. Rolland J (2006) Living with anticipatory loss in the new era of genetics. In: Miller S, McDaniel S, Rolland J, Feetham S (eds) Individuals, families, and the new era of genetics. Norton, New York, pp 139–172

    Google Scholar 

  33. Werner-Lin A (2008) Beating the biological clock: the compressed family life cycle of young women with BRCA gene alterations. Soc Work Health Care 47(4):416–437

    Article  PubMed  Google Scholar 

  34. McDaniel S, Campbell T (1999) Genetic testing and families. Fam Syst Health 17:1–3

    Article  Google Scholar 

  35. Sorenson J, Botkin J (2003) Families and genetic testing. Am J Med Genet 199C(1):1–2

    Article  Google Scholar 

  36. Evans C (2006) Genetic counselling: a psychological approach. University Press, Cambridge

    Book  Google Scholar 

  37. Bowen M (1978) Family therapy in clinical practice. Aronson, New York

    Google Scholar 

  38. Olson J (2000) Circumplex model of marital and family systems. J Fam Ther 22:144–167

    Article  Google Scholar 

  39. Patterson J, Garwick A (1994) The impact of chronic illness on families: a family systems perspective. Ann Behav Med 16:131–142

    Google Scholar 

  40. Enupu D (1997) Systemically-based psychotherapeutic techniques in genetic counselling. J Genet Couns 6(1):1–20

    Article  Google Scholar 

  41. Street E, Soldan J (1998) A conceptual framework for the psychosocial issues faced by families with genetic conditions. Fam Syst Health 16:217–232

    Article  Google Scholar 

  42. Rolland J (1994) Families, illness and disability: an integrative treatment model. Basic Books, New York

    Google Scholar 

  43. Rolland J (1999) Families and genetic fate: a millennial challenge. Fam Syst Health 17:123–132

    Article  Google Scholar 

  44. Weil J (2000) Psychosocial genetic counseling. Oxford University, New York

    Google Scholar 

  45. Wang C, Gonzalez R, Merajver S (2004) Assessment of genetic testing and related counseling services: current research and future directions. Soc Sci Med 58:1427–1442

    Article  PubMed  Google Scholar 

  46. Cameron L, Muller C (2009) Psychosocial aspects of genetic testing. Curr Opin Psychiatry 22(2):218–223

    Article  PubMed  Google Scholar 

  47. McAllister M, Payne K, Nicholls S, McLeod R, Donnai D, Davies L (2007) Improving service evaluation in clinical genetics: identifying effects of genetic diseases on individuals and families. J Genet Couns 16(1):71–83

    Article  PubMed  Google Scholar 

  48. McAllister M (2001) Grounded theory in genetic counselling research. J Genet Couns 10(3):233–250

    Article  Google Scholar 

  49. Glaser B, Strauss A (1967) The discovery of grounded theory. Aldine Publishing, New York

    Google Scholar 

  50. Strauss A, Corbin J (1998) Basic of qualitative research: techniques and procedures for developing grounded theory, 2nd edn. Sage, London

    Google Scholar 

  51. Feetham S, Thomson E (2006) Keeping the individual and family in focus. In: Miller S, McDaniel S, Rolland J, Feetham S (eds) Individuals, families, and the new era of genetics. Norton, New York, pp 3–35

    Google Scholar 

  52. Mendes Á, Santos TA, Sousa L (2011) Experiencing genetic counselling for hereditary cancers: the client’s perspective. Eur J Cancer Care 20(2):204–211

    Article  CAS  Google Scholar 

  53. McGoldrick M, Gerson R (1985) Genograms in family assessment. Norton, New York

    Google Scholar 

  54. Daly M, Farmer J, Harrop-Stein C, Montgomery S, Itzen M, Costalis JW et al (1999) Exploring family relationships in cancer risk counseling using the genogram. Cancer Epidemiol Biomarkers Prev 8:393–398

    PubMed  CAS  Google Scholar 

  55. Penn P (1982) Circular questioning. Fam Proc 21:267–280

    Article  CAS  Google Scholar 

  56. Patton MQ (1990) Qualitative evaluation and research methods. Sage, Newbury Park

    Google Scholar 

  57. Kellas J, Trees A (2006) Finding meaning in difficult family experiences: sense-making and interaction processes during joint family storytelling. J Fam Commun 6(1):49–76

    Article  Google Scholar 

  58. Werner-Lin A (2007) Danger zones: risk perceptions of young women from families with hereditary breast and ovarian cancer. Fam Proc 46(3):335–349

    Article  Google Scholar 

  59. Richards M, Ponder M (1996) Lay understanding of genetics: a test of a hypothesis. J Med Genetics 33:1032–1036

    Article  CAS  Google Scholar 

  60. Cox SM, McKellin W (1999) There’s this thing in our family: predictive testing and the social construction of risk for Huntington disease. In: Gabe J, Conrad P (eds) Sociological perspectives on the new genetics. Blackwell, Oxford, pp 121–145

    Google Scholar 

  61. McAllister M (2003) Personal theories of inheritance, coping strategies, risk perception and engagement in Hereditary non-polyposis colon cancer families offered genetic testing. ClinGenet 64:179–189

    CAS  Google Scholar 

  62. D’Agincourt-Canning L (2001) Experiences of genetic risk: disclosure and the gendering of responsibility. Bioeth 15(3):231–247

    Article  Google Scholar 

  63. Ashida S, Hadley DW, Goergen AF, Skapinsky KF, Devlin HC, Koehly LM (2011) The importance of older family members in providing social resources and promoting cancer screening in families with a hereditary cancer syndrome. Gerontol. doi:10.1093/geront/gnr049

    Google Scholar 

  64. Marteau T (1999) Communicating genetic risk information. Br Med Bull 55:414–428

    Article  PubMed  CAS  Google Scholar 

  65. Hoskins LM, Roy K, Peters J, Loud JT, Greene MH (2008) Disclosure of positive BRCA1/2-mutation status in young couples: the journey from uncertainty to bonding through partner support. Fam Syst Health 26(3):296–316

    Article  Google Scholar 

  66. Koehly L, Peters J, Kenen R, Hoskins L, Ersig A, Kuhn N et al (2009) Characteristics of health information gatherers, disseminators, and blockers within families at risk of hereditary cancer: implications for family health communication interventions. Am J Public Health 99(12):2203–2209

    Article  PubMed  Google Scholar 

  67. Green J, Richards M, Murton F, Statham H, Hallowell N (1997) Family communication and genetic counselling: the case of hereditary breast and ovarian cancer. J Genet Couns 6:45–60

    Article  Google Scholar 

  68. Foster C, Watson M, Moynihan C, Ardern-Jones A, Eeles R (2004) Juggling roles and expectations: dilemmas faced by women talking to relatives about cancer and genetic testing. Psychol Health 19(4):439–455

    Article  Google Scholar 

  69. Nycum G, Avard D, Knoppers B (2009) Factors influencing intrafamilial communication of hereditary breast and ovarian cancer genetic information. Eur J Hum Genet 17:872–880

    Article  PubMed  Google Scholar 

  70. Godard B, Hurlimann T, Letendre M, Egalite N (2006) Guidelines for disclosing genetic information to family members: from development to use. Fam Cancer 5:103–116

    Article  PubMed  Google Scholar 

  71. Forrest L, Delatycki M, Skene L, Aitken M (2007) Communicating genetic information in families: a review of guidelines and position papers. Eur J Hum Genet 15:612–618

    Article  PubMed  Google Scholar 

  72. Gaff CL, Clarke AJ, Atkinson P, Silvell S, Elwyn G, Iredale R et al (2007) Process and outcome in communication of genetic information within families: a systematic review. Eur J Hum Genet 15:999–1011

    Article  PubMed  Google Scholar 

  73. Seymour K, Addington-Hall J, Lucassen A, Foster C (2010) What facilitates or impedes family communication following genetic testing for cancer risk? A systematic review and meta-synthesis of primary qualitative research. J Genet Couns 19:330–342

    Article  Google Scholar 

  74. Roshanai AH, Lampic C, Rosenquist R, Nordin K (2010) Disclosing genetic information within families: perspectives of counselees and their at-risk relatives. Fam Cancer 9(4):669–679

    Article  Google Scholar 

  75. Kenen R, Arden-Jones A, Eeles R (2003) Family stories and the use of heuristics: women from suspected HBOC families. Soc Health Illn 25(7):838–865

    Article  Google Scholar 

  76. Hallowell N (1999) Doing the right thing: genetic risk and responsibility. In: Gabe J, Conrad P (eds) Sociological perspectives on the new genetics. Blackwell Publishers, Oxford, pp 97–120

  77. Trees A, Kellas J, Roche M (2010) Family narratives. In: Gaff C, Bylund C (eds) Family communication about genetics. Oxford University, New York, pp 68–86

    Google Scholar 

  78. Werner-Lin A, Gardner D (2009) Family illness narratives of inherited cancer risk: continuity and transformation. Fam Syst Health 27(3):201–212

    Article  PubMed  Google Scholar 

  79. Reiss D (1981) The family’s construction of reality. Harvard University Press, Cambridge

    Google Scholar 

  80. de Wert G (2005) Whose information is it anyway? Eur J Hum Genet 13:397–398

    Article  PubMed  Google Scholar 

  81. Lucassen A, Clarke A (2007) Should families own genetic information? Br Med J 335(7609):22–23.

    Google Scholar 

Download references

Acknowledgments

We first acknowledge the contributions of all the study participants. We would like to thank Teresa A. Santos, for granting access to consultands and for supporting this study, and Odete Albuquerque, for helping with the recruitment of participants, both from the Centre for Medical Genetics and Human Reproduction of the University Hospital of Coimbra, Portugal. Many thanks also to Marta Patrão for her help in analysing data, to Isabel Fidalgo for critical support during earlier drafts of this manuscript and to the IBMC/CGPP Psicogen group for providing helpful comments. This work was funded by the Foundation for Science and Technology (SFRH/BD/38773/2007).

Author information

Authors and Affiliations

  1. Health, Family and Community Research Group, Department of Health Sciences, University of Aveiro, University Campus of Santiago, 3810-093, Aveiro, Portugal

    Álvaro Mendes & Liliana Sousa

Authors
  1. Álvaro Mendes
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Liliana Sousa
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Álvaro Mendes.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Mendes, Á., Sousa, L. Families’ experience of oncogenetic counselling: accounts from a heterogeneous hereditary cancer risk population. Familial Cancer 11, 291–306 (2012). https://doi.org/10.1007/s10689-012-9514-x

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10689-012-9514-x

Keywords

Search

Navigation