Publications by authors named "Lauren R Frisbie"
Purpose: Three genetic conditions-hereditary breast and ovarian cancer syndrome, Lynch syndrome, and familial hypercholesterolemia-have tier 1 evidence for interventions that reduce morbidity and mortality, prompting proposals to screen unselected populations for these conditions. We examined the impact of genomic screening on risk management and early detection in an unselected population.
Methods: Observational study of electronic health records (EHR) among individuals in whom a pathogenic/likely pathogenic variant in a tier 1 gene was discovered through Geisinger's MyCode project.
Article Synopsis
- The study focuses on identifying disease-causing variants in the BRCA1 and BRCA2 genes within a large research group to aid in cancer prevention and diagnosis.
- Conducted on over 50,000 adult volunteers, it utilized exome sequencing to assess the prevalence of these variants and their impact on personal and family cancer history.
- Results showed that only 0.5% were BRCA1/2 carriers, with a significant portion of these individuals having no previous clinical testing for their variants.