Percentage of participants reporting some or a lot of discussion with family members at baseline and after intervention. Error bars indicate standard error.
aDiscussion with grandchildren did not include an error bar due to very low numbers for this group.
Hay JL, Gordon M, Li Y. Family Risk Discussions After Feedback on Genetic Risk of Melanoma. JAMA Dermatol. 2015;151(3):342-343. doi:10.1001/jamadermatol.2014.3421
First-degree relatives (FDRs) of patients with melanoma may be among the first to seek melanoma genetic risk information.1 Testing may subsequently prompt useful discussions regarding melanoma risk, early detection, and prevention with multiple family members. To explore this potential, this study examined the intended discussions of FDRs of patients with melanoma with diverse family members after receiving hypothetical melanoma genetic risk feedback information.
The study was approved by the institutional review board of the Memorial Sloan Kettering Cancer Center. The study used a 3-by-2 experimental pre-post design, where feedback type and risk level were varied and participants were randomized to 1 of the 6 scenario conditions.2 For feedback type, “mutation feedback” was modeled on inherited mutations in CDKN2A (gene encoding p16INK4A) linked to hereditary melanoma.3 “Gene environment feedback” was modeled on the melanocortin receptor gene (MC1R), which interacts with sun exposure to heighten population melanoma risk.4 “Nongenetic feedback” was based on a nongenetic melanoma risk assessment that includes factors such as mole number.5 Risk level was varied by whether the findings were positive (test identified higher risk) or negative. All scenarios explicitly reminded participants of their increased risk due to family history regardless of test findings.
Assessment of family discussions at baseline (before scenario exposure), asked how much (Not at all to A lot) participants had spoken about melanoma risk with their (a) mother, (b) father, (c) sister(s), (d) brother(s), (e) children, and (f) grandchildren (if they currently had this relative). Assessment at follow-up (after scenario exposure), asked how much participants intended to speak about melanoma risk with each family member.
The McNemar test of change in proportions was used to test pre-post changes in discussion rates. A generalized estimating equation (GEE) model was used to account for the clustered data of multiple family members per participant and to examine the extent to which the experimental manipulations influenced intention to discuss melanoma risk at follow-up.
The sample (N = 139) was mostly female (n = 97 [70%]) and non-Hispanic white (n = 135 [97%]). The median age was 48 years; most patients had only 1 FDR with melanoma (n = 128 [92%]) and no personal melanoma history (n = 110 [79%]). Approximately half (n = 76 [55%]) had a sun-sensitive phenotype (skin type I/II, indicating skin prone to burning). Baseline discussion rates did not differ by experimental conditions (P > .05 for all).
At baseline, frequency of melanoma risk discussions across all family member types was higher, on average, among women than men (t95.47 = 2.34, P < .05), but did not differ based on whether they had 1 or more FDRs with melanoma, whether they had a personal history of melanoma, or whether they had a sun-sensitive phenotype (skin type I/II) or not (P > .05 for all). The GEE model–estimated intentions were higher if the participant received positive (n = 128 [92%]) rather than negative (n = 100 [72%]) feedback (χ21 = 11.98, P = .001). There were no significant differences by feedback type, nor a significant interaction (risk level by feedback type). As reported in the Figure, discussion with all family members increased significantly (McNemar test, P < .05 for all), but these gains were highest for discussions with siblings and children. For example, intended discussion with brothers increased to 73% from 42% reported at baseline.
Genetic testing for melanoma risk presents multiple opportunities for family risk awareness and prevention.6 Findings indicate that FDRs of patients with melanoma are likely to talk with a range of family members about melanoma risk and that positive risk feedback (high-risk mutation, gene environment, and nongenetic) increases intended discussions more than negative feedback. Increased communication with siblings and children, in particular, may be a worthwhile outcome of melanoma genetic testing. Specific guidance on the importance of family communication and risk reduction may be particularly important in the provision of negative genetic testing information.
Accepted for Publication: August 11, 2014.
Corresponding Author: Mallorie Gordon, MA, Department of Psychiatry and Behavioral Sciences, Memorial Sloan Kettering Cancer Center, 641 Lexington Ave, Seventh Floor, New York, NY 10022 (firstname.lastname@example.org).
Published Online: October 22, 2014. doi:10.1001/jamadermatol.2014.3421.
Author Contributions: Drs Hay and Li had full access to all of the data in the study and take responsibility for the integrity of the data and the accuracy of the data analysis.
Study concept and design: Hay, Gordon.
Acquisition, analysis, or interpretation of data: Hay, Gordon, Li.
Drafting of the manuscript: Hay, Gordon.
Critical revision of the manuscript for important intellectual content: All authors.
Statistical analysis: Li.
Obtained funding: Hay.
Administrative, technical, or material support: Hay, Gordon.
Study supervision: Hay.
Conflict of Interest Disclosures: None reported.
Funding/Support: This study was supported in part by The Martell Foundation.
Role of the Funder/Sponsor: The Martell Foundation had no role in the design and conduct of the study; collection, management, analysis, and interpretation of the data; preparation, review, or approval of the manuscript; and decision to submit the manuscript for publication.
Additional Contributions: Charlotte Ariyan, MD, PhD, Mary Sue Brady, MD, and Daniel Coit, MD, provided clinic and patient access. We thank our study participants for their valued participation.