Multigene (ie, multipanel) testing is a complicated area. At the NCCN 22nd Annual Conference, Kenneth Offit, MD, MPH, Chief, Clinical Genetics Services, Memorial Sloan Kettering Cancer Center (MSKCC), reviewed the advantages and disadvantages of multigene testing for hereditary cancer syndromes and discussed situations in which multigene testing should be considered.
“Someday, we'll be able to spit into our smart phones, and get a genetic readout and online counseling, but we are not there yet,” Dr. Offit stated at the outset of his talk.
Currently, NCCN does not endorse routing multiplex testing outside of a research setting, and/or intensive genetic counseling regarding risks and benefits. The 2017 NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines) for Genetic/Familial High-Risk Assessment: Breast and Ovarian1 and Colorectal2 provide suggestions for mutation carriers identified by panel tests.
Daly MB, Pilarski R, Berry M. NCCN Clinical Practice Guidelines in Oncology for Genetic/Familial High-Risk Assessment: Breast and Ovarian. Version 2.2017. Accessed April 5, 2017.
Provenzale D, Gupta S, Ahnen DJ. NCCN Clinical Practice Guidelines in Oncology for Genetic/Familial High-Risk Assessment: Colorectal. Version 2.2016. Accessed April 5, 2017.
Pritchard CC, Mateo J, Walsh MF. Inherited DNA-repair gene mutations in men with metastatic prostate cancer. N Engl J Med 2016;375:443–453.
Balmaña J, Digiovanni L, Gaddam P. Conflicting interpretation of genetic variants and cancer risk by commercial laboratories as assessed by the prospective registry of multiplex testing. J Clin Oncol 2016;34:4071–4078.
Vogel VG. Reducing the risk of breast cancer with tamoxifen in women at increased risk. J Clin Oncol 2001;16(18 Suppl):87S–92S.
Tung N, Domchek S, M, Stadler Z. Counseling framework for moderate-penetrance cancer-susceptibility mutations. Nat Rev Clin Oncol 2016;13:581–588.
Trosman JR, Weldon CB, Douglas MP. Payer coverage for hereditary cancer panels: barriers, opportunities, and implications for the Precision Medicine Initiative. J Natl Compr Canc Netw 2017.