Familial Cancer

, Volume 12, Issue 4, pp 675–682 | Cite as

Can we test for hereditary cancer at 18 years when we start surveillance at 25? Patient reported outcomes

  • Aisha S. Sie
  • Judith B. Prins
  • Liesbeth Spruijt
  • C. Marleen Kets
  • Nicoline Hoogerbrugge
Original Article


DNA-testing for BRCA1/2 or Lynch syndrome is possible from the age of 18 years, although surveillance usually starts at 25. Some patients regret their decision of testing before age 25. This retrospective study evaluates whether the testing age should be above 25 years to prevent adverse effects such as regret or decisional conflict, by determining the percentage and characteristics of patients reporting these problems. 111 of 219 patients (51 %) tested for BRCA1/2 mutations or Lynch syndrome between 18 and 25 years from July 1996 to February 2011, returned self-report surveys. Primary measures were regret, decisional conflict and family influence. Secondary measures included quality of life (QoL), coping style, impact of genetic testing, and risk perception. Median age was 27 [21–40] years, with 86 % female. 73 % was tested for BRCA1/2, 27 % for Lynch syndrome. Only 3 % reported regret, however 39 % had moderate (32 %) to severe (7 %) decisional conflict. Regression analysis revealed that decisional conflict was associated with more monitoring/neutral coping style (p < 0.03) or paternal/no family mutation (p < 0.02); there were no differences in QoL, impact or risk perception. 42 % were mutation carriers, showing equal decisional conflict to non-carriers. 68 % would recommend testing <25 years; 77 % desired surveillance <25 years if a mutation carrier. Almost no patient tested for hereditary cancer between 18 and 25 years regretted this decision. A third reported retrospective decisional conflict, especially those actively seeking information when faced with a threat and/or those with a paternal or unknown inheritance. These patients may benefit from decisional support and personalized information.


Young adult Hereditary Cancer BRCA Lynch syndrome Decision making 


  1. 1.
    Trepanier A, Ahrens M, McKinnon W, Peters J, Stopfer J, Grumet SC, Manley S, Culver JO, Acton R, Larsen-Haidle J, Correia LA, Bennett R, Pettersen B, Ferlita TD, Costalas JW, Hunt K, Donlon S, Skrzynia C, Farrell C, Callif-Daley F, Vockley CW, National Society of Genetic C (2004) Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. J Genet Couns 13 (2):83–114. doi:10.1023/B:JOGC.0000018821.48330.77 Google Scholar
  2. 2.
    Comprehensive Cancer Centres the Netherlands (2010) Oncoline Guideline: Hereditary breast/ovarian cancer. http://www.oncoline.nl/hereditair-mamma-ovariumcarcinoom
  3. 3.
    Comprehensive Cancer Centres the Netherlands (2008) Oncoline Guideline: Hereditary colorectal cancerGoogle Scholar
  4. 4.
    Hamilton R, Williams JK, Bowers BJ, 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):147–159PubMedCrossRefGoogle Scholar
  5. 5.
    Steinberg L (2005) Cognitive and affective development in adolescence. Trends Cogn Sci 9(2):69–74PubMedCrossRefGoogle Scholar
  6. 6.
    Gazendam-Donofrio SM, Hoekstra HJ, van der Graaf WT, van de Wiel HB, Visser A, Huizinga GA, Hoekstra-Weebers JE (2007) Family functioning and adolescents’ emotional and behavioral problems: when a parent has cancer. Ann Oncol 18(12):1951–1956PubMedCrossRefGoogle Scholar
  7. 7.
    Huizinga GA, Visser A, van der Graaf WT, Hoekstra HJ, Stewart RE, Hoekstra-Weebers JE (2010) Family-oriented multilevel study on the psychological functioning of adolescent children having a mother with cancer. Psychooncology 20(7):730–737PubMedCrossRefGoogle Scholar
  8. 8.
    Visser A, Huizinga GA, van der Graaf WT, Hoekstra HJ, Hoekstra-Weebers JE (2004) The impact of parental cancer on children and the family: a review of the literature. Cancer Treat Rev 30(8):683–694PubMedCrossRefGoogle Scholar
  9. 9.
    van Oostrom I, Meijers-Heijboer H, Duivenvoorden HJ, Brocker-Vriends AH, van Asperen CJ, Sijmons RH, Seynaeve C, Van Gool AR, Klijn JG, Tibben A (2006) Experience of parental cancer in childhood is a risk factor for psychological distress during genetic cancer susceptibility testing. Ann Oncol 17(7):1090–1095PubMedCrossRefGoogle Scholar
  10. 10.
    Andrews L, Mireskandari S, Jessen J, Thewes B, Solomon M, Macrae F, Meiser B (2006) Impact of familial adenomatous polyposis on young adults: attitudes toward genetic testing, support, and information needs. Genet Med 8(11):697–703. doi:10.109701.gim.0000245574.75877.b9 PubMedCrossRefGoogle Scholar
  11. 11.
    Andrews L, Mireskandari S, Jessen J, Thewes B, Solomon M, Macrae F, Meiser B (2007) Impact of familial adenomatous polyposis on young adults: quality of life outcomes. Dis Colon Rectum 50(9):1306–1315. doi:10.1007/s10350-007-0259-9 PubMedCrossRefGoogle Scholar
  12. 12.
    Johnson SB, Blum RW, Giedd JN (2009) Adolescent maturity and the brain: the promise and pitfalls of neuroscience research in adolescent health policy. J Adolesc Health 45(3):216–221PubMedCrossRefGoogle Scholar
  13. 13.
    Steinberg L, Graham S, O’Brien L, Woolard J, Cauffman E, Banich M (2009) Age differences in future orientation and delay discounting. Child Dev 80(1):28–44PubMedCrossRefGoogle Scholar
  14. 14.
    Byrnes JP (2002) The development of decision-making. J Adolesc Health 31(6 Suppl):208–215PubMedCrossRefGoogle Scholar
  15. 15.
    Gaff CL, Lynch E, Spencer L (2006) Predictive testing of eighteen year olds: counseling challenges. J Genet Couns 15(4):245–251PubMedCrossRefGoogle Scholar
  16. 16.
    Werner-Lin A, Hoskins LM, Doyle MH, Greene MH (2012) ‘Cancer doesn’t have an age’: genetic testing and cancer risk management in BRCA1/2 mutation-positive women aged 18–24. Health (Lond). doi:10.1177/1363459312442420 Google Scholar
  17. 17.
    O’Connor AM (2010) User Manual—decisional conflict scale (16 item statement format). http://decisionaid.ohri.ca/docs/develop/User_Manuals/UM_Decisional_Conflict.pdf
  18. 18.
    O’Connor AM (1995) Validation of a decisional conflict scale. Med Decis Making 15(1):25–30PubMedCrossRefGoogle Scholar
  19. 19.
    Sivell S, Elwyn G, Gaff CL, Clarke AJ, Iredale R, Shaw C, Dundon J, Thornton H, Edwards A (2008) How risk is perceived, constructed and interpreted by clients in clinical genetics, and the effects on decision making: systematic review. J Genet Couns 17(1):30–63. doi:10.1007/s10897-007-9132-1 PubMedCrossRefGoogle Scholar
  20. 20.
    Wakefield CE, Homewood J, Mahmut M, Taylor A, Meiser B (2007) Usefulness of the Threatening Medical Situations Inventory in individuals considering genetic testing for cancer risk. Patient Educ Couns 69(1–3):29–38PubMedCrossRefGoogle Scholar
  21. 21.
    Shiloh S, Koehly L, Jenkins J, Martin J, Hadley D (2008) Monitoring coping style moderates emotional reactions to genetic testing for hereditary nonpolyposis colorectal cancer: a longitudinal study. Psychooncology 17(8):746–755. doi:10.1002/pon.1338 PubMedCrossRefGoogle Scholar
  22. 22.
    van Oostrom I, Meijers-Heijboer H, Duivenvoorden HJ, Brocker-Vriends AH, van Asperen CJ, Sijmons RH, Seynaeve C, Van Gool AR, Klijn JG, Tibben A (2007) Comparison of individuals opting for BRCA1/2 or HNPCC genetic susceptibility testing with regard to coping, illness perceptions, illness experiences, family system characteristics and hereditary cancer distress. Patient Educ Couns 65(1):58–68. doi:10.1016/j.pec.2006.05.006 PubMedCrossRefGoogle Scholar
  23. 23.
    Koedoot N, Molenaar S, Oosterveld P, Bakker P, de Graeff A, Nooy M, Varekamp I, de Haes H (2001) The decisional conflict scale: further validation in two samples of Dutch oncology patients. Patient Educ Couns 45(3):187–193PubMedCrossRefGoogle Scholar
  24. 24.
    Bottomley A, Aaronson NK (2007) International perspective on health-related quality-of-life research in cancer clinical trials: the European Organisation for Research and Treatment of Cancer experience. J Clin Oncol 25(32):5082–5086. doi:10.1200/JCO.2007.11.3183 PubMedCrossRefGoogle Scholar
  25. 25.
    van Zuuren FJ, de Groot KI, Mulder NL, Muris P (1996) Coping with medical threat: an evaluation of the Threatening Medical Situations Inventory (TMSI). Pers Indiv Differ 21(1):21–31CrossRefGoogle Scholar
  26. 26.
    Ong LM, Visser MR, van Zuuren FJ, Rietbroek RC, Lammes FB, de Haes JC (1999) Cancer patients’ coping styles and doctor-patient communication. Psychooncology 8(2):155–166PubMedCrossRefGoogle Scholar
  27. 27.
    Timmermans LM, van Zuuren FJ, van der Maazen RW, Leer JW, Kraaimaat FW (2007) Monitoring and blunting in palliative and curative radiotherapy consultations. Psychooncology 16(12):1111–1120PubMedCrossRefGoogle Scholar
  28. 28.
    Cella D, Hughes C, Peterman A, Chang CH, Peshkin BN, Schwartz MD, Wenzel L, Lemke A, Marcus AC, Lerman C (2002) A brief assessment of concerns associated with genetic testing for cancer: the Multidimensional Impact of Cancer Risk Assessment (MICRA) questionnaire. Health Psychol 21(6):564–572PubMedCrossRefGoogle Scholar
  29. 29.
    Pieterse A, van Dulmen S, Ausems M, Schoemaker A, Beemer F, Bensing J (2005) QUOTE-gene(ca): development of a counselee-centered instrument to measure needs and preferences in genetic counseling for hereditary cancer. Psychooncology 14(5):361–375. doi:10.1002/pon.853 PubMedCrossRefGoogle Scholar
  30. 30.
    Salemink S, Dekker N, Kets CM, van der Looij E, van Zelst-Stams WA, Hoogerbrugge N (2012) Focusing on patient needs and preferences may improve genetic counseling for colorectal cancer. J Genet Couns. doi:10.1007/s10897-012-9519-5
  31. 31.
    Trouillet R, Doan-Van-Hay LM, Launay M, Martin S (2011) Impact of age, and cognitive and coping resources on coping. Can J Aging 30(4):541–550. doi:10.1017/S0714980811000456 PubMedCrossRefGoogle Scholar
  32. 32.
    Ozanne EM, O’Connell A, Bouzan C, Bosinoff P, Rourke T, Dowd D, Drohan B, Millham F, Griffin P, Halpern EF, Semine A, Hughes KS (2012) Bias in the Reporting of Family History: implications for Clinical Care. J Genet Couns. doi:10.1007/s10897-011-9470-x PubMedGoogle Scholar
  33. 33.
    Galea S, Tracy M (2007) Participation rates in epidemiologic studies. Ann Epidemiol 17(9):643–653. doi:10.1016/j.annepidem.2007.03.013 PubMedCrossRefGoogle Scholar
  34. 34.
    Redelmeier DA, Dickinson VM (2011) Determining whether a patient is feeling better: pitfalls from the science of human perception. J Gen Intern Med 26(8):900–906. doi:10.1007/s11606-011-1655-3 PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media Dordrecht 2013

Authors and Affiliations

  • Aisha S. Sie
    • 1
  • Judith B. Prins
    • 2
  • Liesbeth Spruijt
    • 1
  • C. Marleen Kets
    • 1
  • Nicoline Hoogerbrugge
    • 1
  1. 1.Department of Human GeneticsRadboud University Nijmegen Medical CentreNijmegenThe Netherlands
  2. 2.Department of Medical PsychologyRadboud University Nijmegen Medical CentreNijmegenThe Netherlands

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