A cross-sectional survey of genetic counselors providing carrier screening regarding GBA variants and Parkinson disease susceptibility.

ABSTRACT:

Purpose

Adult-onset disease risks associated with carriers of recessive disease have and will continue to be identified. As carrier screening becomes more broadly utilized, providers face the dilemma of whether they should discuss these risks during discussions with prospective parents. This study aimed to understand whether preconception/prenatal genetic counselors (PPGCs) were aware of the risk of Parkinson disease in carriers of, and persons with, Gaucher disease and the reasons behind choosing whether to discuss this risk with patients.

Methods

Eligible participants included board-certified or board-eligible genetic counselors who had counseled preconception/prenatal patients within the past 3 years. An online survey was distributed via the National Society of Genetic Co

SUBMITTER: Jones TA 

PROVIDER: S-EPMC8995214 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature