Patient for Life Laboratory-Initiated Reanalysis Program

This white paper outlines the Patient for Life program initiated by Ambry Genetics, which is a laboratory-initiated cohort-level reanalysis program for clinical whole exome sequencing (ES). Launched in 2011, this program proactively reviews patient exome data to identify new diagnostic findings based on advancements in gene-disease validity and variant classification. The paper details two approaches to reanalysis: clinician-initiated and laboratory-initiated, emphasizing the advantages of the latter in systematically reviewing previously undiagnosed cases. The program has shown effectiveness in identifying rare diseases, with a reported diagnostic finding in 5% of patients who previously had negative results. It also discusses the impact of gene-disease validity (GDV) on diagnostic yield and the importance of ongoing assessments by Ambry's expert team. The paper concludes by highlighting how the Patient for Life program addresses disparities in genetic testing access among different racial and ethnic groups, ensuring equitable access to updated genetic testing results.