Abstract

The combination of increased referral for genetic testing and the current shortage of genetic counselors has necessitated the development and implementation of alternative models of genetic counseling and testing for hereditary cancer assessment. The purpose of this scoping review is to provide an overview of the patient outcomes that are associated with alternative models of genetic testing and genetic counseling for hereditary cancer, including germline-only and tumor testing models. Seven databases were searched, selecting studies that were: (1) full-text articles published ≥2007 or conference abstracts published ≥2015, and (2) assessing patient outcomes of an alternative model of genetic counseling or testing. A total of 79 publications were included for review and synthesis. Data-charting was completed using a data-charting form that was developed by the study team for this review. Seven alternative models were identified, including four models that involved a genetic counselor: telephone, telegenic, group, and embedded genetic counseling models; and three models that did not: mainstreaming, direct, and tumor-first genetic testing models. Overall, these models may be an acceptable alternative to traditional models on knowledge, patient satisfaction, psychosocial measures, and the uptake of genetic testing; however, particular populations may be better served by traditional in-person genetic counseling. As precision medicine initiatives continue to advance, institutions should consider the implementation of new models of genetic service delivery, utilizing a model that will best serve the needs of their unique patient populations.

Highlights

  • In just over five years, multiple events have increased the demand for genetic counseling (GC) and genetic testing (GT) for hereditary breast and ovarian cancer

  • The purpose of this review is to provide a single comprehensive overview of patient-reported outcomes for all alternative models of GC and GT, including tumor testing, which are currently utilized for hereditary cancer to serve as a resource for clinicians to identify and implement alternative models that are relevant to their clinical resources and patient population

  • Studies were grouped into seven categories based on the GC intervention (Tables 1–7), which can be Studies were grouped into seven categories based on the GC intervention (Tables 1–7), which can be dichotomized into two groups: those that involved a genetic counselor prior to GT

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Summary

Introduction

In just over five years, multiple events have increased the demand for genetic counseling (GC) and genetic testing (GT) for hereditary breast and ovarian cancer. In 2014 and 2018, the FDA approved poly (ADP-ribose) polymerase (PARP) inhibitors for BRCA-associated breast and ovarian cancers, respectively, which again prompted an increase in GC referrals [3], only this time with some urgency, given that results are needed to inform treatment decisions. There has been increased awareness of the high BRCA mutation rates [4–6], and historically low genetic GC/GT rates [7–10] among women with ovarian cancer. Multi-disciplinary meetings have been convened in the United States (USA) [11] and Canada [12] to define a list of priorities to ensure that BRCA GT is routinely performed for all women with high-grade ovarian cancer.

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