Informing the clinically healthy population about the genetic risks identified based on the results of the whole genome sequencing

Abstract

The National Genetic Initiative aims to sequence 100,000 whole genomes of Russian citizens from various ethnic groups and geographic regions. WGS data might help revealing genetic variants that do not manifest clinically during testing. Secondary findings include variants in the genes from the American College of Medical Genetics and Genomics (ACMG) secondary findings v.3.2 list (1). Secondary findings were identified in 2.7% of the subjects. Informing the participants about the identified risks is the essential part of the personalized medicine. Here we describe a framework for the genetic consultation of healthy people with high genetic risks and its application on a limited number of participants from the Republic of Bashkortostan.