Genetic test reporting of CDKN2A provides informational and motivational benefits for managing melanoma risk

Abstract

A CDKN2A/p16 mutation confers 28%-67% lifetime melanoma risk, a risk that may be moderated by ultraviolet radiation exposure. The aim of this study was to test whether melanoma genetic counseling and test disclosure conferred unique informational, motivational, or emotional benefits compared to family history-based counseling. Participants included were 114 unaffected members of melanoma-prone families, ages 16-69, 51.8% men, 65.8% with minor children or grandchildren. Carriers (n = 28) and noncarriers (n = 41) from families with a CDKN2A mutation were compared to no-test controls (n = 45) from melanoma-prone families without an identifiable CDKN2A mutation. All participants received equivalent counseling about melanoma risk and management; only CDKN2A participants received genetic test results. Using newly developed inventories, participants rated perceived costs and benefits for managing their own and their children's or grandchildren's melanoma risk 1 month and 1 year after counseling. Propensity scores controlled for baseline family differences. Compared to no-test controls, participants who received test results (carriers and noncarriers) reported feeling significantly more informed and prepared to manage their risk, and carriers reported greater motivation to reduce sun exposure. All groups reported low negative emotions about melanoma risk. Parents reported high levels of preparedness to manage children's risk regardless of group. Carrier parents reported greater (but moderate) worry about their children's risk than no-test control parents. Women, older, and more educated respondents reported greater informational and motivational benefits regardless of group. Genetic test results were perceived as more informative and motivating for personal sun protection efforts than equivalent counseling based on family history alone.

CDKN2A testing and genetic counseling promote reductions in objectively measured sun exposure one year later

“…As a result, carriers would evidence lower daily UVR exposure and lighter skin pigmentation, and report fewer sunburns in the year following CDKN2A test reporting than no-test controls. This is consistent with our prior findings that carriers reported greater motivation for sun protection than no-test controls 20 and greater understanding and acceptance of risk information and management recommendations. 21…”

“…Recruitment occurred during three spring-to-summer seasons from 2012-14 to ensure that all sessions occurred during months with high UVR. 23 Additionally, participants returned for follow-up visits 12 months after counseling, ensuring that follow-up assessments occurred at the same time of year (see Aspinwall et al 20 , for additional details of recruitment procedure). Follow-up visits were completed one month and one year following genetic counseling.…”

Genetic Test Reporting and Counseling for Melanoma Risk in Minors May Improve Sun Protection Without Inducing Distress

“…For the present study, the counseling sessions were developed by two experienced certified genetic counselors who designed materials that were appropriate for younger participants, enhanced engagement through true/false questions and other prompts, and promoted an understanding of the link between sun exposure and melanoma risk. Although our research in adults indicates that p16 genetic test reporting and counseling promote informational and motivational benefits beyond equivalent family history-based counseling alone (Aspinwall et al 2017), additional research is needed to determine whether these findings extend to minors.…”

Daily Minutes of Unprotected Sun Exposure (MUSE) Inventory: Measure description and comparisons to UVR sensor and sun protection survey data

“…The Daily MUSE Inventory is a computerized measure, currently administered via REDCap ( Harris et al, 2009 ), which assesses sun exposure based on the outdoor activities that a participant completes during a particular reporting window ( Appendix A ). This measure was initially developed and pilot-tested among 128 individuals with a familial history of melanoma ( Aspinwall et al, 2018 ). The daily version of the measure was administered in a 14-day study of 50 participants with elevated melanoma risk ( Stump and Aspinwall, 2017 ).…”