Genetic test reporting enhances understanding of risk information and acceptance of prevention recommendations compared to family history-based counseling alone

Abstract

It is unknown whether or why genetic test reporting confers benefits in the understanding and management of cancer risk beyond what patients learn from counseling based on family history. A prospective nonexperimental control group study compared participants from melanoma-prone families who underwent CDKN2A/p16 (p16) genetic testing (27 carriers, 38 noncarriers) to participants from equivalently melanoma-prone families known not to carry a deleterious p16 mutation (31 no-test controls). All participants received equivalent counseling concerning elevated lifetime melanoma risk and corresponding recommendations for prevention and screening. Both immediately and one month after counseling, participants receiving a genetic test result reported greater understanding of their risk, decreased derogation of the risk information, and greater personal applicability of prevention recommendations than no-test controls. Decreased derogation of risk information after test reporting predicted further increases in understanding of melanoma risk and applicability of prevention recommendations one month later. Results suggest unique benefits of genetic test reporting in promoting understanding and acceptance of information about hereditary cancer risk and its management.

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

“…The 18 remaining participants came from 11 families. Eight of these families (72.7%) included a parent who had participated in one of our prior studies in which genetic test results for melanoma risk were reported (Aspinwall et al 2013b; Taber et al 2015). In five families (45.5%), one parent had a prior melanoma diagnosis.…”

Findings made in gene panel to whole genome sequencing: data, knowledge, ethics – and consequences?

“…This will pose an increasing challenge on the counseling geneticists since specialists in one particular disease context are then supposed to potentially interpret up to genome-wide data and decide on whether or not to report findings affecting all kinds of diseases back to the respective individuals [86]. While first studies suggest that affected individuals might not undergo major crises [87] or could even benefit from better risk information [88,89], potential longtime implications regarding insurance, employment, and stigmatization [90] require further attention.…”

Identification, genetic testing, and management of hereditary melanoma

“…Genetic testing of appropriate individuals and the tailored follow-up recommendations that ensue can improve early detection, reduce mortality, and enhance compliance with prevention recommendations [4, 5]. Furthermore, if the highest-risk individuals are selectively screened and treated before expensive systemic therapies are required, costs can be reduced and productive years of life can be increased.…”