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Department of Medical genomics: Home

Library materials, subject guides, and useful resources compiled by KFSH&RC

Key Achievements

The Medical Genomics Department at King Faisal Specialist Hospital and Research Centre (KFSH&RC) has achieved significant milestones in advancing genomic medicine. Below is a timeline highlighting key achievements, followed by notable awards and recognitions.

  1. Launching new service: Precision Medicine in Family Medicine Clinics to Enhance Access to the Latest Genetic Tests

A collaboration between medical Genomic department, department of the family medicine and University of Pittsburgh medical center, the new service of  precision medicine in family care was launched in Jan 2025,  to enable the development of precise diagnostic and treatment plans that contribute to improved health outcomes for individuals and families. It represents a pioneering step that ensures access to the latest genetic tests for all patients without requiring repeated visits to specialized clinics while offering sustainable and integrated healthcare solutions aligned with the nature of primary care.

  1. Launching new service: Genetic Premarital Counseling Clinic

Our Genetic Premarital Counseling Clinic empowers couples to make informed marriage and reproductive decisions by offering comprehensive genetic screening that goes beyond the traditional premarital test. Through Expanded Carrier Screening (ECS), utilizing Whole Genome Sequencing (WGS), we provide an in-depth analysis of over 1,000 severe and recessively inherited conditions, including Spinal Muscular Atrophy (SMA). With cutting-edge technology and expert counseling, our clinic’s goal is to offer personalized guidance on genetic compatibility, reduce the risk of passing on hereditary conditions to future children, and promote proactive family planning.

  1. Launching new service: Prenatal board

This multidisciplinary group meeting from our department with the molecular diagnostic lab and obstetrician gynecologist, to discuss challenging prenatal cases for early evaluation and decision based on prenatal checklist. In 2024, the prenatal service helped 1206 pregnant women and saved 395 million riyals.

  1. Cardiovascular Genetics Program

Established in 2008, the Cardiovascular Genetics Program provides clinical diagnosis, genetic testing, and genetic counseling for patients that have familial cardiovascular diseases. Since its inception, the Program has managed to serve nearly 4,279 cases (1520 families) with different forms of familial heart diseases. Cases are referred to the Program from the regions of the Kingdom and from GCC countries.

Welcome

 MEDICAL GENOMICS DEPARTMENT

The Medical Genomics Department’s mission is to provide the highest quality of medical care through state-of-the-art diagnostic, therapeutic and preventative care for all individuals affected or at risk of genetic conditions. The mandate is a well-coordinated and well-balanced program of clinical practice, education and research.

Our Goals:

1. To improve quality of life for individuals and families impacted by genetic diseases with special focus on genetic prevention.

2. To be a leader in the domain through education, research and innovation.

3. To transform genomic healthcare into an efficient and independent not-for-profit service.

4. To set a model of cutting edge practice in precision genomic medicine.

PGD

Service Descriptions

  1. Pediatric Clinical Genomics and Clinical Biochemical Genetics (Inborn Errors of Metabolism)
  2. Adult Clinical Genomics and Clinical Biochemical Genetics (Inborn Errors of Metabolism)
  3. Combined Cardiovascular Genomics
  4. Combined Prenatal Genomics
  5. Reproductive Genomic Service
  6. Inpatient and Outpatient Consultation Service
  7. General Counseling Clinics
  8. Specialized Genetic Counselling (GC) Service (e.g. Cancer GC, Cardiovascular GC, Expanded premarital GC)
  9. Newborn Screening for Inborn Errors of Metabolism and Genetic Disorders
  10. Outpatient and Virtual Clinics
  11. Genomic Precision Medicine Service
  12. Family Screening Clinic
  13. Genetic Cancer Clinic
  14. Combined Metabolic/Liver Transplant Clinic