Genetic counseling for patients with positive genomic screening results: Considerations for when the genetic test comes first

Abstract

Emerging genetic testing delivery models have enabled individuals to receive testing without a medical indication. This article will highlight key considerations for patient care in the setting of adult patients with positive results for monogenic disease identified through genomic screening. Suggestions for how to adapt genetic counseling to a genomic screening population will encompass topics such as phenotyping, risk assessments, and the use of existing guidelines and resources. Case examples will demonstrate principles of genotype-first patient care.

Keywords: genetic counseling; genetics services; population screening; predictive genetic testing; risk assessment; secondary findings.