The Future of Genomic Health in Precision Medicine: Interpretation of Whole Genome Sequencing (WGS)

Apostolos “Paul” Psychogios, M.D., FACMGG

Director Clinical Genetics and Genomics Research, Comite Center for Precision Medicine & Health

Whole Genome Sequencing (WGS) is a comprehensive method analyzing the entire genome being established as the most effective test for rare disease diagnosis. At the same time, it is a transformative diagnostic tool supporting the paradigm shift from disease-driven to prevention-oriented precision medicine. The American College of Medical Genetics and Genomics (ACMG) recommends WGS testing as an effective strategy in comparison with traditional single or multi-gene testing in patients with 1) a strong family history of a likely unknown genetic disorder or otherwise unspecified phenotype, 2) known but heterogeneous disorder, and 3) in affected individuals with previously nonconclusive genetic results. We have been offering WGS testing first in the practice since 2018 with an identification of a pathogenic (P) and likely pathogenic (LP) gene variant in approximately 71%. Our approach was specifically designed to offer 1) WGS at the first interaction with the client in conjunction with a comprehensive family history intake/pedigree analysis, medical record review, and examination, 2) continuous genome data reanalysis every 6 months especially for the initially non-diagnostic cases, and 3) continuous analysis of their phenome (phenomics). We believe that every individual, especially the most vulnerable ones, should have access to WGS-driven services first to precisely optimize their health and life outcomes.