Real-World Results from Combined Screening for Monogenic Genomic Health Risks and Reproductive Risks in 300 Adults

• Published in: Journal of personalized medicine Vol. 12; no. 12; p. 1962
• Main Authors: Wildin, Robert S, Gerrard, Diana L, Leonard, Debra G B
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 28.11.2022; MDPI
• Subjects: Age; Cancer; Disease; Family medical history; Genes; Genetic counseling; Genetic disorders; Genetic diversity; Genomics; Health risk assessment; Health risks; Laboratories; Medical practices; Medical screening; Nucleotide sequence; Patients; Precision medicine; Primary care; United States > US; primary care providers; carrier status; clinical genomics; population health; gene panels; inherited health risk; real-world experience; genomic screening
• ISSN: 2075-4426; 2075-4426
• DOI: 10.3390/jpm12121962

New methods and demonstrations of feasibility guide future implementation of genomic population health screening programs. This is the first report of genomic population screening in a primary care, non-research setting using existing large carrier and health risk gene sequencing panels combined into one 432-gene test that is offered to adults of any health status. This report summarizes basic demographic data and analyses patterns of pathogenic and likely pathogenic genetic findings for the first 300 individuals tested in this real-world scenario. We devised a classification system for gene results to facilitate clear message development for our Genomic Medicine Action Plan messaging tool used to summarize and activate results for patients and primary care providers. Potential genetic health risks of various magnitudes for a broad range of disorders were identified in 16% to 34% of tested individuals. The frequency depends on criteria used for the type and penetrance of risk. 86% of individuals are carriers for one or more recessive diseases. Detecting, reporting, and guiding response to diverse genetic health risks and recessive carrier states in a single primary care genomic screening test appears feasible and effective. This is an important step toward exploring an exome or genome sequence as a multi-purpose clinical screening tool.