Psychological Impact of Learning CDKN2A Variant Status as a Genetic Research Result
In: Public health genomics, Band 21, Heft 3-4, S. 154-163
ISSN: 1662-8063
<b><i>Objectives:</i></b> 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 <i>CDKN2A</i> variant result that is associated with increased risk of pancreatic cancer and melanoma. <b><i>Methods:</i></b> One hundred and thirty-three pancreas research registry enrollees whose samples were tested in a research laboratory for the <i>CDKN2A</i> 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 before and 6 months after disclosure. Genetic testing-specific distress, uncertainty, and positive experiences were assessed 6 months after disclosure. <b><i>Results:</i></b> Eighty individuals agreed to participate; 63 completed the study. Both carriers and noncarriers showed no change over time in self-rated health, quality of life, or anxiety levels. Carriers reported more sadness than noncarriers before and 6 months after disclosure. Both carriers and noncarriers showed more hopefulness 6 months after than before disclosure. Carriers experienced greater test-specific distress and uncertainty than noncarriers, but levels were low. <b><i>Conclusions:</i></b> Return of IRR in conjunction with cancer prevention counseling led to low levels of test-specific distress and uncertainty among carriers. No other adverse psychological outcomes were observed.