TY - JOUR
T1 - Genetic testing for melanoma risk
T2 - a prospective cohort study of uptake and outcomes among Australian families
AU - Kasparian, Nadine A.
AU - Meiser, Bettina
AU - Butow, Phyllis N.
AU - Simpson, Judy M.
AU - Mann, Graham J.
PY - 2009/4
Y1 - 2009/4
N2 - PURPOSE: The aim of this prospective cohort study was to examine uptake and psychological, behavioral, and cognitive outcomes of genetic testing for melanoma risk among individuals with a known family-specific CDKN2A mutation. METHODS: A total of 119 individuals were ascertained via a genetic epidemiological study and completed a series of mailed, self-administered questionnaires at multiple time points, including notification of genetic test availability, and 2 weeks and 12 months after receipt of genetic test results (for "test participants"), or 12 months after notification (for "decliners"). RESULTS: Since January 2005, 21% of participants (n = 25) have undergone genetic testing, with 75% of those who have received results identified as mutation carriers (n = 15). Factors associated with uptake of genetic counseling included perceived susceptibility to melanoma (odds ratio = 3.60, P = 0.0008), and fatalistic beliefs about melanoma (odds ratio = 0.57, P = 0.005). Compared with baseline, carriers reported significantly reduced anxiety scores at 2 weeks, and reduced depression scores at 2 weeks and 12 months, after receipt of genetic test results. Carriers also reported a significantly greater frequency of clinical skin examination at 12-month follow-up compared with decliners (chi2 = 5.70, P = 0.02). No hypothesis testing was carried out for noncarriers because of their limited number. CONCLUSION: These data provide preliminary evidence for healthy psychological, behavioral, and cognitive adjustment after participation in genetic testing for melanoma risk.
AB - PURPOSE: The aim of this prospective cohort study was to examine uptake and psychological, behavioral, and cognitive outcomes of genetic testing for melanoma risk among individuals with a known family-specific CDKN2A mutation. METHODS: A total of 119 individuals were ascertained via a genetic epidemiological study and completed a series of mailed, self-administered questionnaires at multiple time points, including notification of genetic test availability, and 2 weeks and 12 months after receipt of genetic test results (for "test participants"), or 12 months after notification (for "decliners"). RESULTS: Since January 2005, 21% of participants (n = 25) have undergone genetic testing, with 75% of those who have received results identified as mutation carriers (n = 15). Factors associated with uptake of genetic counseling included perceived susceptibility to melanoma (odds ratio = 3.60, P = 0.0008), and fatalistic beliefs about melanoma (odds ratio = 0.57, P = 0.005). Compared with baseline, carriers reported significantly reduced anxiety scores at 2 weeks, and reduced depression scores at 2 weeks and 12 months, after receipt of genetic test results. Carriers also reported a significantly greater frequency of clinical skin examination at 12-month follow-up compared with decliners (chi2 = 5.70, P = 0.02). No hypothesis testing was carried out for noncarriers because of their limited number. CONCLUSION: These data provide preliminary evidence for healthy psychological, behavioral, and cognitive adjustment after participation in genetic testing for melanoma risk.
UR - http://www.scopus.com/inward/record.url?scp=70349322564&partnerID=8YFLogxK
M3 - Article
C2 - 19265718
AN - SCOPUS:70349322564
SN - 1098-3600
VL - 11
SP - 265
EP - 278
JO - Genetics in medicine : official journal of the American College of Medical Genetics
JF - Genetics in medicine : official journal of the American College of Medical Genetics
IS - 4
ER -