Abstract
Predictive genetic tests for familial adenomatous polyposis (FAP) are routinely offered to young people during early adolescence. While this is not controversial, due to the medical benefit conferred by the test, it is nonetheless challenging as a consequence of the stage of life of the young people, and the simultaneous involvement of multiple family members. Despite these challenges, it is possible to ensure that the test is offered in such a way that it actively acknowledges and facilitates young people’s developing autonomy and psychosocial well-being. In this paper we present findings from ten in-depth interviews with young people who have undergone predictive genetic testing for FAP (four male, six female; five gene-positive, five gene-negative; aged 10–17 years at the time of their predictive test; aged 12–25 years at the time of their research interview). We present five themes that emerged from the interviews which highlight key ethical challenges associated with such testing. These are: (1) the significance of the test; (2) young people’s lack of involvement in the decision to be tested; (3) young people’s limited understanding; (4) provision of the blood test at the first visit; and (5) group testing of family members. We draw on these themes to make eight recommendations for future practice. Together, these recommendations highlight the importance of providing developmentally appropriate care to young people undergoing predictive genetic testing for FAP.
Similar content being viewed by others
References
Borry P et al (2006) Presymptomatic and predictive genetic testing in minors: a systematic review of guidelines and position papers. Clin Genet 70:374–381
Andrews L et al (2006) Impact of familial adenomatous polyposis on young adults: attitudes toward genetic testing, support, and information needs. Genet Med 8:697–703
Duncan R et al (2008) “You’re one of us now”: young people describe their experiences of predictive genetic testing for huntington disease (HD) and familial adenomatous polyposis (FAP). Am J Med Genet C 148C:47–55
Vasen HF et al (2009) Guidelines for the clinical management of familial adenomatous polyposis (FAP). Gut 57:704–713
National Health and Medical Research Council (1999) Familial aspects of cancer: a guide to clinical practice Commonwealth of Australia
Working Party of the Clinical Genetics Society (UK) (1994) The genetic testing of children. J Med Genet 31(10):785–797
Duncan R (2004) Predictive genetic testing in young people: when is it appropriate? J Paediatr Child Health 40:593–595
Duncan R, Delatycki MB (2006) Predictive genetic testing in children and adolescents: where is the empirical evidence? Clin Genet 69:8–16
Kodish E (1999) Testing children for cancer genes: the rule of earliest onset. Review. J Pediatr 135(3):390–395
Rozen P, Macrae F (2006) Familial adenomatous polyposis: the practical applications of clinical and molecular screening. Fam Cancer 5:227–235
Kastrinos F et al (2007) Attitudes toward prenatal genetic testeing in patients with familial adenomatous polyposis. Am J Gastroenterol 102:1284–1290
Andrews L et al. (2007) Impact of familial adenomatous polyposis on young adults: quality of life outcomes. Dis Colon Rectum 50: p. Published online July 31st, 2007: http://www.springerlink.com/content/97747v4184g684h6/
Douma KFL et al (2008) Psychosocial issues in genetic testing for familial adenomatous polyposis: a review of the literature. Psycho-Oncol 17:737–745
Distante S et al (1996) Familial adenomatous polyposis in a 5 year old child: a clinical, pathological, and molecular genetic study. J Med Genet 33:157–160
Giardello F et al (1997) The use and interpretation of commercial APC gene testing for familial adenomatous polyposis. N Engl J Med 336:823–827
Petersen GM, Brensinger JD (1996) Genetic testing and counseling in familial adenomatous polyposis. Oncology 10:89–94
Fernandez-Suarez A et al (2005) Clinical and ethical implications of genetic counselling in familial adenomatous polyposis. Revista Española de Enfermedades Digestivas 97:654–665
Petersen GM, Boyd PA (1995) Gene tests and counseling for colorectal cancer risk: lessons from familial polyposis. J Natl Cancer Inst Monogr 17:67–71
Michie S et al (1996) Parents responses to predictive genetic testing in their children—report of a single case study. J Med Genet 33(4):313–318
Codori AM et al (1996) Genetic testing for cancer in children. Short-term psychological effect. Arch Pediatr Adolesc Med 150(11):1131–1138
Codori AM et al (2003) Genetic testing for hereditary colorectal cancer in children: long-term psychological effects. Am J Med Genet 116A(2):117–128
Michie S, Bobrow M, Marteau TM (2001) Predictive genetic testing in children and adults: a study of emotional impact. J Med Genet 38(8):519
Duncan RE (2007) Holding your breath: interviews with young people who have undergone predictive genetic testing for huntington disease. Am J Med Genet 143A:1984–1989
Hansen EC (2006) Successful qualitative health research. Allen and Unwin, Sydney, p 147
Peters-Brown T, Fry-Mehltretter L (1996) Genetic counseling for pregnant adolescents. J Genet Couns 5:155–168
Gaff C, Lynch E, Spencer L (2006) Predictive testing of eighteen year olds: counseling challenges. J Genet Couns 15(4):245–251
Hallowell N et al (2003) Balancing autonomy and responsibility: the ethics of generating and disclosing genetic information. J Med Ethics 29:74–79
Meiser B (2005) Psychological impact of genetic testing for cancer susceptibility: an update of the literature. Psycho-Oncol 14:1060–1074
Collins V et al (2000) Cancer worries, risk perceptions and associations with interest in DNA testing and clinic satisfaction in a familial colorectal cancer clinic. Clin Genet 58:460–468
Meiser B et al (2004) Psychological impact of genetic testing for hereditary non-polyposis colorectal cancer. Clin Genet 66(6):502–511
Skene L (2008) Law and medical practice: rights, duties, claims and defences. LexisNexis Butterworths, Chatswood
Royal Australasian College of Physicians Joint Adolescent Health Committee (2008) Working with young people: a training resource in adolescent health: Sydney
Society for Adolescent Medicine (2004) Confidential health care for adolescents: position paper of the society for adolescent medicine. J Adolesc Health 35:160–167
Acknowledgments
We thank the 10 young people who participated in interviews as part of this study. We also thank Professor Susan Sawyer for her helpful comments on this paper. MBD is an NHMRC Practitioner Fellow. RED is an NHMRC Postdoctoral Research Fellow.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Duncan, R.E., Gillam, L., Savulescu, J. et al. The challenge of developmentally appropriate care: predictive genetic testing in young people for familial adenomatous polyposis. Familial Cancer 9, 27–35 (2010). https://doi.org/10.1007/s10689-009-9294-0
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s10689-009-9294-0