This pilot study investigates integrating whole genome sequencing and digital twin technology for managing hypercholesterolemia in Abu Dhabi clinics. It aims to establish protocols for larger future studies and incorporate genomic insights into routine medical care.
Patients with 2 or more LDL-C levels greater than 190 mg/dL or 5.0 mmol/L in the past 12 months
Undiagnosed patients meeting Possible, Probable or Definitive FH criteria according to Dutch Lipid Clinic Network (DLCN) criteria (Eur Heart J. 2011 Jul;32(14):1769-818. doi: 10.1093/eurheartj/ehr158. Epub 2011 Jun 28.)
Patients who have not been on anti-lipidemic medication in the past 3 months
Ages 18-55
- Patients who do not meet the above criteria
Patients with a previous diagnosis of FH
Patients with a progressive debilitating illness
Patient with untreated hypothyroidism, history of proteinuria, obstructive liver disease, chronic renal failure, human immunodeficiency virus infection, or on immunosuppressant or steroid or psychiatric medications
Parallel
Whole Genome Sequencing
GeneticParticipants in this arm will have their blood sample analyzed by whole-genome sequencing (WGS) and will be given access to Predictiv™ Deoxyribonucleic acid (DNA)-based digital twin platform, a web-based interactive application with WGS results. The platform will include positive monogenic and polygenic Familial Hypercholesterolemia results and pharmacogenomics results on statins and clopidogrel. A report of positive monogenic variants will be included in their medical record. This may also include genes on the American College of Medical Genetics and Genomics (ACMG) secondary findings (SF) version 3.2 list if the participant consents to receive these incidental findings. The report will only include pathogenic, likely pathogenic, and variant of uncertain significance (VUS) results.
Diagnostic capabilities
Diagnostic yield of standard-of-care (based on medical and family history) versus whole genome sequencing (WGS) for identifying monogenic and polygenic familial hypercholesterolemia.
Prognostic capabilities of standard-of-care
Prognostic capabilities of standard-of-care (based on medical and family history) versus whole genome sequencing for predicting outcomes and management in monogenic and polygenic familial hypercholesterolemia.
Resources Implementation for WGS in a clinical setting
Assessed by documenting resources necessary for each phase, including execution of WGS, reporting of results, and overall evaluation,
Participant characteristics
Age, sociodemographic, personal and family history
Change in Perceived Utility
Assessed using novel participant surveys via questions including: attitudes towards DNA testing and results, understanding of results, change in expectations, confidence, concerns.
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Abu Dhabi Health Services Company
Lead sponsor
Predictiv Care, Inc.
Collaborator
