Large-Scale Population Screening for <i>BRCA1</i> and <i>BRCA2</i> Ashkenazi Founder Mutations: Perspectives of Professionals Providing Oncogenetic Consultations.

ABSTRACT:

Introduction

In March 2020, a nationwide population carrier screening for BRCA1/2 pathogenic variants among Ashkenazi Jewish women was initiated in Israel. We aimed to assess views regarding the program among professionals who provide oncogenetic counseling for detected carriers.

Methods

An online survey was distributed to clinical geneticists and genetic counselors.

Results

The participants' impression was that most carriers did not comprehend the implications of a positive result when deciding to take the test. Some carriers, in retrospect, regretted taking it. Some had a known mutation carrier in the family, and some had a family history that justified a broader test (and so should not have been tested through the screening program). Eight survey participant

SUBMITTER: Furman Y 

PROVIDER: S-EPMC12005690 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature