P288: SIX1 c.396G>C (p.Lys132Asn) in a UAE family with autosomal dominant hearing loss reveals regional diagnostic gaps
Year: 2026
Type: conference-abstract
Abstract: Methods: The Primary Care Precision Medicine (PCPM) Clinic at UPMC was founded in 2019 as a multidisciplinary effort to make precision medicine more accessible within primary care.Initially operating one half day per week and staffed by one physician, two genetic counselors, and a pharmacogenomics (PGx)-trained pharmacist, the clinic has since expanded to full-time service with three clinicians (an MD, DO, and nurse practitioner), three genetic counselors, and a PGx-trained pharmacist.Patients typically complete two visits: the first focuses on comprehensive family history and assessment of the referral reason, and the second returns and interprets genetic test results, discusses clinical implications, and coordinates management with PCP or specialist referrals when appropriate.Building on this successful model, a comparable Precision Medicine Clinic was launched in January 2025 at KFSHRC-Riyadh through collaboration with the PCPM Medical Director.The Riyadh clinic operates as a multidisciplinary half-day service within family medicine, comprising a primary care physician, a genetic counselor, a pharmacogenomics (PGx)-trained pharmacist, and a consulting medical geneticist.Family medicine practitioners initiate referrals for patients meeting predefined genetic or pharmacogenomic criteria, such as early-onset cancer in family history, unexplained hypertrophic cardiomyopathy, or adverse drug reactions to medications impacted by PGx.The clinic utilizes in-house PGx testing and exome/genome sequencing, including the ten CDC Tier 1 actionable genes and 81 medically actionable genes recommended by the ACMG.Results: Since its inception, the UPMC PCPM Clinic has seen over 2,800 patients for a wide range of indications, including connective tissue disorder (CTD) evaluation and testing, pharmacogenomics, hereditary cancer screening, familial variant testing, carrier screening for reproductive planning, and genetic evaluation for suspected neurological, cardiac, or other conditions.At KFSHRC-Riyadh, 255 patients have been referred to the new clinic since its launch in January 2025.Of these, more than 200 were seen in 2025.Approximately 43% of visits have been for pharmacogenomic testing and consultation.Early assessments demonstrate strong engagement and clinical demand, highlighting the feasibility of implementing a high-demand, pioneering genomic service within a primary care setting.Conclusion: Embedding precision medicine within primary care demonstrates a sustainable and scalable model for delivering genomic services to diverse populations.By positioning primary care clinicians as the central hub for managing genomic information, this approach ensures that results with lifelong health implications are integrated into ongoing, comprehensive care.The success of the UPMC PCPM Clinic and the clinic at KFSHRC-Riyadh demonstrates how this model enhances accessibility, reduces barriers to genetic services, and promotes the equitable implementation of genomics in everyday practice.Empowering primary care to lead genomic integration strengthens community health through earlier detection, informed prevention, and personalized management across the lifespan.
Source: Genetics in Medicine Open
Institution: University of Sharjah
Language: English
Subfield: Sensory Systems
Field: Neuroscience
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $3,200
OpenAlex ID: W7133640942
Cites:
Cited by:
Related to: