Panels of mutations (Genetic Testing) – SGO statement – pro
The Society ofGynecologic Oncology (SGO) recently made this statement: “Advantages of cancer gene panels include decreased cost and improved efficiency of cancer genetic testing by decreasing the time involved, number of patient visits, and number of tests sent. A negative genetic test is more reassuring at eliminating the likelihood of inherited risk when all known genes for that phenotype have been assayed.
The major drawback of cancer gene panels is the increased complexity of results. For many genes, clear risk reduction strategies for mutation carriers are not established. A major concern is the increased likelihood of identifying results of uncertain clinical significance. Uncertain results occur when a rare variant is identified whose impact on protein function is unknown. Uncertainty can also arise from the identification of a clearly deleterious mutation in a gene of uncertain clinical significance. The more genes that are tested, the greater the chances are of such uncertain results. Clinical management should not be dictated by these uncertain variants; rather, family history should guide recommendations in these cases. However, clinicians may misinterpret uncertain results, treating patients as if a deleterious mutation is present, leading to unnecessary interventions. Given the increased variety of testing options and potential complexity of genetic results with cancer gene panels, genetic counselors or knowledgeable medical professionals should carefully discuss the pros and cons with patients.”
Loveday C, Turnbull C, Ramsay E, Hughes D, Ruark E, Frankum J, et al. Germline mutations in RAD51D confer susceptibility to ovarian cancer. Nat Genet 2011;43(9):879-82.
Walsh T, Casadei S, Lee MK, Pennil CC, Nord AS, Thornton AM, et al. Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. Proc Natl Acad Sci USA 2011;108:18032-18037.
https://www.sgo.org/clinical-practice/guidelines/next-generation-cancer-gene-panels-versus-gene-by-gene-testing/
Hampel H, et al. A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. Genetics in Medicine 2015;17(1):70-87. DOI: 10.1038/gim.2014.147. (
Mauer CB, Pirzadeh-Miller SM, Robinson LD, Euhus DM. The integration of next-generation sequencing panels in the clinical cancer genetics practice: an institutional experience. Genetics in Medicine 2014;16(5):407-412.