The contemporary landscape of genetic testing and breast cancer: Emerging issues.

The Breast Journal
Payal D Shah, Susan M Domchek

Abstract

The landscape of genetic testing for breast cancer susceptibility has transformed dramatically over the last decade and a half. Traditionally, the process of genetic testing resided fully within a medical infrastructure, from identification of appropriate testing candidates to gene selection to risk mitigation recommendations. More recently, decreasing costs, advancing technology, and a growing understanding of therapeutic implications of certain genetic test results have led to more widespread uptake of testing that increasingly involves broad multigene panels. Germline genetic testing for breast cancer susceptibility can now be obtained through one of three approaches: through clinical care; a direct-to-consumer (DTC) approach that is entirely consumer-driven; or a hybrid, patient-initiated, provider-mediated model. Increased access to testing has led to extensive dialogue about the best way to conduct testing and act on results. Points of discussion include: selection of appropriate candidates for genetic testing; optimal composition of genes on panels; informed consent; safe return of results; privacy; and legal protections for those found to have relevant pathogenic or likely pathogenic variants. As more individuals underg...Continue Reading

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Jan 4, 2021·Breast Cancer Research and Treatment·David D StenehjemJoseph E Biskupiak
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Nov 10, 2020·Patient Education and Counseling·Friedrich KühnDorothee Speiser

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