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  • Presentation

Improved Detection of Candidates for Melanoma Genetic Counseling

Description

Caroline Starling, a resident at MD Anderson, presented a quality improvement project aimed at enhancing the identification of melanoma patients suitable for genetic counseling. The discussion began with a review of melanoma genetics, highlighting the significance of germline DNA changes, which can indicate susceptibility to melanoma and other cancers. Approximately 5-12% of melanomas occur in patients with a family history, and identifying pathogenic variants can inform screening for additional cancer risks. Starling emphasized the updated NCCN guidelines, which provide clearer criteria for referrals to genetic counseling. The project sought to improve the collection of family history and the use of a melanoma genetic risk assessment tool to bolster referrals for genetic counseling. Initial findings showed increased referral rates post-intervention, although the utilization of the assessment tool remained low. Adjustments were made to focus on a survivorship clinic, where appointments were less complex, allowing for more in-depth discussions on genetic risks. The project used a point-based system to determine patients' eligibility for counseling, and Starling concluded by highlighting the expanded understanding of germline testing in melanoma and the important role dermatologists play in early identification and referral of at-risk patients.

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Conclusions

  • Germline testing for melanoma has expanded beyond earlier limited gene panels, which enhances our understanding of patient risk.
  • The newly established NCCN guidelines provide clearer criteria for who should be referred for genetic counseling regarding melanoma.
  • A pilot quality improvement project at MD Anderson aimed to improve family history data collection and increase genetic counseling referrals.
  • The project successfully increased genetic counseling referrals in patients at the MD Anderson survivorship clinic post-intervention.
  • Initial challenges included low utilization of the assessment tool and prioritization of complex medical issues during patient encounters.
  • Referrals were particularly effective among the survivorship clinic population, which supports focusing on less complex cases for genetic assessments.
  • Utilization of a Melanoma risk assessment tool showed that identifying patients with certain familial cancer histories is critical for recommending counseling.
  • The introduction of point-based criteria for genetic referrals has led to an increase in the identification of patients needing counseling.
  • Leachman SA, Lucero OM, Sampson JE, Cassidy P, Bruno W, Queirolo P, Ghiorzo P. Identification, genetic testing, and management of hereditary melanoma. Cancer Metastasis Rev. 2017 Mar;36(1):77-90. doi: 10.1007/s10555-017-9661-5. PMID: 28283772; PMCID: PMC5385190.
  • Rashid S, Gupta S, McCormick SR, Tsao H. New Insights into Melanoma Tumor Syndromes. JID innovations.2022;2(6):100152 -. doi: 10.1016/j.xjidi.2022.100152.
  • Mucci LA, Hjelmborg JB, Harris JR, Czene K, Havelick DJ,Scheike T, et al. Familial Risk and Heritability of Cancer Among Twins in Nordic Countries. JAMA: the journal of the American Medical Association. 2016;315(1):68-76. doi: 10.1001/jama.2015.17703.
  • Soura E, Eliades PJ, Shannon K, Stratigos AJ, Tsao H. Hereditary melanoma: Update on syndromes and management: Genetics of familial atypical multiple mole melanoma syndrome. Journal of the American Academy of Dermatology. 2016;74(3):395-407; quiz 8-10. doi: 10.1016/j.jaad.2015.08.038.
  • Martino S, De Summa S, Pilato B, et al. Case report: Germline POT7 mutation in a patient with GIST and lung adenocarcinoma. Front Oncol. 2024;14:1419739. Published 2024 Aug 2. doi:10.3389/fonc.2024.1419739.
  • Bailey CN, Martin BJ, Petkov VI, Schussler NC, Stevens JL, Bentler S, Cress RD, Doherty JA, Durbin EB, Gomez SL, Gonsalves L, Hernandez BY, Liu L, Morawski BM, Schymura MJ, Schwartz SM, Ward KC, Wiggins C, Wu XC, Goldberg MS, Siegel JJ, Cook RW, Covington KR, Kurley SJ. 31-Gene Expression Profile Testing in Cutaneous Melanoma and Survival Outcomes in a Population-Based Analysis: A SEER Collaboration. JCO Precis Oncol. 2023 Jun;7:e2300044. doi: 10.1200/PO.23.00044. PMID: 37384864; PMCID: PMC10530
  • Funchain P, Ni Y, Heald B, Bungo B, Arbesman M, Behera TR, McCormick S, Song JM, Kennedy LB, Nielsen SM, Esplin ED, Nizialek E, Ko J, Diaz-Montero CM, Gastman B, Stratigos AJ, Artomov M, Tsao H, Arbesman J. Germline cancer susceptibility in individuals with melanoma. J Am Acad Dermatol. 2024 Aug;91(2):265-272. doi: 10.1016/j.jaad.2023.11.070. Epub 2024 Mar 20. PMID: 38513832.