P612: Adherence to clinical follow-up care in patients identified with familial hypercholesterolemia through population genetic screening program

Results: Outpatient consultations were provided to 183 unique patients in the GHC during this four-year period.These patients had an average age of 42 years (range 19 to 82), and the majority were female (74%).Fifteen patients (8%) were referred by other genetic professionals (MDs and CGCs) following a focused genetics consultation through another service wherein patients expressed interest in potentially pursuing additional genetic testing.Other referral sources included: primary-care-providers (49%), patient self-referrals (23%), and other specialist referrals (20%).In 66% of cases, referrals were prompted by family histories of disease (amongst them cancer, neurodegenerative disease, and thrombophilia were most common).Twenty-five percent of patients were referred to the clinic for other reasons, including request for proactive screening tests (12%), interpretation of previous genetic testing reports including direct-to-consumer (6%), and pharmacogenomic testing (7%).Ninety-six patients (53%) underwent DNA-based testing and of these 75% (72/96) met established clinical criteria for testing.Of the 96 tests ordered by the clinic team, 72% were diagnostic tests, including multigene panels, single-gene sequencing, or genotyping; 13% were elective multigene panels; 10% were genome or exome sequencing; and 5% were pharmacogenomic tests.Pathogenic variants were identified in 25% (24/96) of patients; of these 42% (10/24) were identified through elective screenings (gene panels or genome/exome sequencing).Each of these 10 positive elective screens consisted of a heterozygous pathogenic variant for a monogenic condition.For patients who received cancer multigene panel testing for positive family history, 15% were positive, 13% were confirmed true negative for a known familial variant, 54% were negative (without available proband testing) and 18% had variants of uncertain significance.Three patients (2%) received non-genetic testing that was ordered by the GHC team.Among those who did receive testing, 26% (25/96) were self-pay.Conclusion: Over its initial four-year history, the Mount Sinai GHC has established itself as a setting where adult patients can receive expert consultation, genetic counseling, and testing for a range of health risks.This clinic model provides an alternative venue that: [1] expands routine access to clinical genetics and genomics expertise for a range of clinical issues including some that are viewed as low priority within busy traditional clinical genetics programs, while [2] unburdening other clinical genetic and genomic programs that are often faced with long wait times for new appointments.Moving forward, the Mount Sinai GHC aims to increase in scale to continue improving accessibility to genetic services and providing patients with opportunities to better understand the role of genetics and genomics in their health.