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

Xuan Zhu, Emma R. Leof, Kari G. Rabe, Jennifer B. McCormick, Gloria M. Petersen, Carmen Radecki Breitkopf

Research output: Contribution to journalArticlepeer-review

3 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)154-163
Number of pages10
JournalPublic health genomics
Issue number3-4
StatePublished - 2018


  • CDKN2A variant
  • Genetic research results
  • Melanoma
  • Pancreatic cancer
  • Psychological outcome

ASJC Scopus subject areas

  • Public Health, Environmental and Occupational Health
  • Genetics(clinical)


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