Intention to Obtain Genetic Testing for Melanoma among Individuals at Low to Moderate Risk for Hereditary Melanoma

Oct 15, 2026

Upload by Grenda

Study examines intention to obtain genetic testing for hereditary melanoma among unaffected first-degree relatives of melanoma patients with low-to-moderate hereditary risk. Using mailed questionnaires completed by 92 relatives recruited through melanoma index cases, findings show average respondent age 45.7 years and a predominantly female, married, Caucasian sample. Prior awareness was low (11%), yet after test description 48% would take testing within six months. Logistic regression links intent to marriage, physician recommendation, and helping family members decide healthcare. Education should emphasize clinical utility and implications for relatives, particularly as testing becomes more available.

LanguageEnglish

CategoryHealthcare

FormatPDF

Pages8

Reading Time20 min

AccessFree to download

Abstract

Background

Purpose and Methods

Results and Discussion

Translation to Health Education Practice

Background

Genetic mutations and risk

Clinical utility limitations

Market demand and information needs

Methods

Subject recruitment and data collection

ResearchArticles Intention to Obtain Genetic Testing for Melanoma among Individuals at Low to Moderate Risk for Hereditary Melanoma Susan T. Vadaparampil, Lora Azzarello, Jennifer Pickard, and Paul. B. Jacobsen ABSTRACT Background: Melanoma is a serious skin cancer that has been on the rise in the United States. Some genetic component is apparent. Purpose: The purpose of this study was to identify demographic, clinical, attitudinal, and health belief factors associated with intention to obtain genetic testing for hereditary melanoma among unaffected ﬁrst-degree relatives of melanoma patients at low to moderate risk for hereditary melanoma. Methods: Using contact information provided by index cases diagnosed with melanoma, 92 unaffected ﬁrst-degree relatives were asked to complete questionnaires via mail. Results: The average age of respondents was 45.7 (+ 12.8) years, and the majority were female (59%), currently married (80%), and Caucasian (98%). Only 11% of the sample was aware of genetic testing for hereditary melanoma prior to the survey. However, once such a test was described, 48% said they would take the test in the next six months if it were made available to them. Logistic regression analyses revealed that being married, physician recommendation, and helping family members make healthcare decisions were associated with intention to obtain genetic testing. Discussion: In light of these results, health education efforts for low-to-moderate-risk patients should include information about the clinical utility of genetic testing and the implicationsoftest results for family members. Translation to Health Education Practice: As genetic testing for cancer becomes more widely available, demand for information will increase as well. Health educators will be instrumental in meeting the increased demand for such information and ensuring that those at low risk are appropriately informed andreassured. BACKGROUND An estimated 5-10% of all melanoma occurs in patients with a family history of the disease.1 Several inherited germline mutations have been linked to hereditary melanoma, including CDK2NA (a.k.a. INK4a, MSTI, or P16), CDK4, and P14ARF. Of these mutations, CDK2NA is the most clinically relevant and accounts for approximately 20-40% of hereditary cases of melanoma.1 Individuals carrying this mutation have a lifetime risk of developing melanoma of up to 76%.1 The likelihood of ﬁnding amutation inCDK2NA increases with thenumber of family members affected with melanoma. The mutation detection rate increases from approximately 5% in families with 2 cases of melanoma to approximately 20-40% in families with 3 or more cases.2 Commercially available genetic CDK2NA testing for melanoma is now available.3 Although there has been discussion of the potential utility of genetic testing for hereditary melanoma (GTHM) in clinical settings, 1 the Melanoma Genetics Consortium (MGC) does not currently recommend GTHM outside of research protocols due to several limitations.4-6 These limitations include (a) the low likelihood of ﬁnding mutations in known melanoma susceptibility genes, even in 60% of melanoma-prone families,(b) the large variability in estimates of prevalence and penetrance of identiﬁed mutations,(c) a possible false sense of reassurance among those who test negative despite a higher incidence of melanoma among non-muta- tion-carriers in CDKN2A families when compared to the general population.6,7 Despite recommendations against clinical use of GTHM4-6 and direct-to-consumer advertising of genetic testing,8-12 GTHM is being directly marketed to consumers.13 According to reports from the Susan T. Vadaparampil, University of South Florida College of Medicine and H. Lee Mofﬁtt Cancer Center and Research Institute Tampa, FL, 12902; E-mail: vadapast@mofﬁ[tt.usf.edu](tt.usf.edu). Lora Azzarello, H. Lee Mofﬁtt Cancer Center and Research Institute Tampa, FL. Jennifer Pickard, H. Lee Moffitt Cancer Center and Rese

FAQs

Who participated in the study and how were they recruited?

Unaffected first-degree relatives of melanoma patients were recruited using contact information from melanoma index cases. After IRB approval, eligible relatives completed mailed questionnaires.

What were the key findings about participants’ awareness and testing intention?

Only 11% were aware of genetic testing for hereditary melanoma before the survey. After the test was described, 48% stated they would take the test within the next six months if available.

Which factors were associated with intention to obtain genetic testing?

Logistic regression identified being married, physician recommendation, and helping family members make healthcare decisions as factors associated with testing intention.

Oct 15, 2026

Upload by Grenda