Psychological Impact of Learning CDKN2A Variant Status as a Genetic Research Result

Public Health Genomics. 2018;21(3-4):154-163. doi: 10.1159/000496556. Epub 2019 Apr 18.


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 before and 6 months after disclosure. Genetic testing-specific distress, uncertainty, and positive experiences were assessed 6 months after disclosure.

Results: 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. -Conclusions: 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.

Keywords: CDKN2A variant; Genetic research results; Melanoma; Pancreatic cancer; Psychological outcome.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Female
  • Genes, p16
  • Genetic Predisposition to Disease / psychology*
  • Genetic Testing*
  • Humans
  • Male
  • Middle Aged
  • Mutation / genetics*
  • Pancreatic Neoplasms / genetics*
  • Surveys and Questionnaires
  • Truth Disclosure*