The Biggest Struggle: Navigating Trust and Uncertainty in Genetic Variant Interpretation.

ABSTRACT:

Introduction

As the utility of genomic sequencing increases, its use in healthcare will continue to expand beyond expert clinics toward nonspecialist practices such as primary care. At the same time, discordance in genetic variant identification and classification between laboratories remains a concern for the field. This research assesses how clinicians with and without genetics expertise understand and trust genetic test results, underscoring how variation in the handling of genetic test results can have real impact on patient care.

Methods

We conducted 40 interviews with genetics experts, including clinical geneticists and genetic counselors, and nonexpert clinicians including primary care providers and cardiologists.

Results

Clinical geneticists and genetic counse

SUBMITTER: Griffen Z 

PROVIDER: S-EPMC11588501 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature