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Alagille Syndrome
Conference Roundup
Genetic and Congenital

Cost Benefit of Genome Program in Saudi Arabia

Posted on March 19, 2020

Launched in 2014, the Saudi Human Genome Program (SHGP) has the goal of identifying genetic variation in Saudi Arabia, a country with a high burden of rare disease, due in part to a high rate (approximately 60%) of consanguineous marriages.

A recent study, presented at the International Conference on Birth Defects and Disabilities in the Developing World, utilized sequencing data from over 25,000 samples from patients and family members with inherited diseases, to establish the benefit of the SHGP in better understanding this patient population.

Successful families-based prevention programs include implementing pre-implantation genetic diagnosis, prenatal diagnosis, and population screening programs including newborn screening and pre-marital screening. The SHGP also helped develop personalized therapeutic strategies for a number of genetic metabolic disorders. In addition, pre-marital screening programs alerted couples when they carried variants that would likely result in affected children. Approximately 60% of these couples opted not to get married, saving more than SAR 3 billion per year in health care costs due to the reduction in social burden to health care and community costs.

Reference

Reference

Al-Aqeel AI. The Saudi Human Genome Program (SHGP) and precision medicine in Saudi Arabia. Presented at: International Conference on Birth Defects and Disabilities in the Developing World. February 23-26, Sri Lanka.

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