Psychological impact of learning CDKN2A variant status as a genetic research result

Abstract:
Objectives: Little is known about genetic research participants’ responses to receiving individual research results (IRR) from cancer genetic research. We examined the immediate and delayed psychological impact of returning a CDKN2A variant result that is associated with increased risk of pancreatic cancer and melanoma.
Methods: One hundred and thirty-three pancreas research registry enrollees whose samples were tested in a research laboratory for the CDKN2A variant were invited by mail to learn the result by telephone and participate in a study about the disclosure process. Self-rated health, quality of life, and emotional responses were surveyed at pre-disclosure and 6-months post-disclosure. Genetic testing-specific distress, uncertainty, and positive experiences were assessed at 6-months post-disclosure.
Results: Eighty individuals agreed to participate; 63 completed the study. Both carriers and non-carriers showed no change over time in self-rated health, quality of life, or anxiety levels. Carriers reported more sadness than non-carriers at pre-disclosure and 6-months post-disclosure. Both carriers and non-carriers showed more hopefulness at 6-months post-disclosure than pre-disclosure. Carriers experienced greater test-specific distress and uncertainty than non-carriers, but levels were low.
Conclusions: Return of IRR in conjunction with cancer prevention counselling led to low levels of test-specific distress and uncertainty among carriers. No other adverse psychological outcomes were observed.