Parental preferences for CDKN2A/p16 testing of minors

• Published in: Genetics in medicine Vol. 12; no. 12; pp. 823 - 838
• Main Authors: Taber, Jennifer M., Aspinwall, Lisa G., Kohlmann, Wendy, Dow, Reed, Leachman, Sancy A.
• Format: Journal Article
• Language: English
• Published: New York Elsevier Inc 01.12.2010; Nature Publishing Group US
• Subjects: Adult; Age of Onset; Aged; Aged, 80 and over; Biomedical and Life Sciences; Biomedicine; CDKN2A; children; Cyclin-Dependent Kinase Inhibitor p16 - genetics; familial melanoma; Female; Follow-Up Studies; Genetic Counseling; Genetic Predisposition to Disease; Genetic Testing - statistics & numerical data; Heterozygote; Human Genetics; Humans; Laboratory Medicine; Male; Melanoma - diagnosis; Melanoma - epidemiology; Melanoma - genetics; Middle Aged; Minors; Parental Consent - statistics & numerical data; Patient Preference - statistics & numerical data; prevention; Skin Neoplasms - diagnosis; Skin Neoplasms - epidemiology; Skin Neoplasms - genetics; Young Adult; genetic counseling; familial melanoma; CDKN2A; children; prevention
• DOI: 10.1097/GIM.0b013e3181f87278
• ISSN: 1098-3600

Genetic testing of minors is controversial, as ethical considerations depend on multiple aspects of the particular disease and familial context. For melanoma, there is a well-established and avoidable environmental influence and a documented benefit of early detection. We surveyed 61 CDKN2A/p16 mutation-tested adults from two kindreds about their attitudes toward genetic testing of minors immediately posttesting and 2 years later. Overall, 86.9% expressed support of melanoma genetic testing of minors, with the importance of risk awareness (77.4%) and the likelihood of improved prevention and screening behaviors (69.8%) as the most frequently cited potential benefits. Among mutation carriers, 82.6% wanted genetic testing for their own children. These preferences remained stable over a 2-year period. Most respondents (62.3%) favored complete involvement of their children in genetic counseling and test reporting; 19.7% suggested that children be tested but not informed of the results. Concerns about inducing psychological distress or compromising children's decision autonomy were infrequently cited. Testing preferences did not vary by respondent age, gender, or melanoma history. Respondents strongly supported melanoma genetic testing of minors, with most citing improved health behavior as a likely outcome. We discuss options for melanoma genetic counseling and testing of minors.