This study examined whether participants who learned research results related to a germline CDKN2A variant known to be associated with increased risk of pancreatic cancer and malignant melanoma would pursue confirmatory testing and cancer screening, share the genetic information with health care providers and family, and change risk perceptions.
Participants were pancreas research registry enrollees whose biological sample was tested in a research laboratory for the variant. In total, 133 individuals were invited to learn a genetic research result and participate in a study about the disclosure process. Perceived cancer risk, screening intentions, and behaviors were assessed predisclosure, immediately postdisclosure, and six months postdisclosure.
Eighty individuals agreed to participate and 63 completed the study. Immediately postdisclosure, carriers reported greater intentions to undergo pancreatic cancer and melanoma screening (p values ≤0.024). Seventy-three percent of carriers (47.5% noncarriers) intended to seek confirmatory testing within six months and 20% (2.5% noncarriers) followed through. All participants shared results with ≥1 family member. More carriers shared results with their health care provider than noncarriers (p = 0.028).
Recipients of cancer genetic research results may not follow through with recommended behaviors (confirmatory testing, screening), despite stated intentions. The research result disclosure motivated follow-up behaviors among carriers more than noncarriers.
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This research was supported in part by National Institutes of Health (NIH) grants R01 CA97075 and R01 CA208517 and the Rolfe Foundation for Pancreatic Cancer. We gratefully acknowledge the clinical expertise of Noralane Lindor, Robert R. McWilliams, and Katrina Pedersen; the study coordination efforts of Bridget Rathbun; and the data management support of Que Luu, Megan Reichmann, Ryan Wuertz, and Sarah Amundson.