The Saudi Human Genome Program (SHGP) is one of the National Transformation Programs out of Vision 2030 for Saudi Arabia. It was first initiated in 2013 by King Abdulaziz City for Science and Technology, in Riyadh. SHGP is an ambitious project that plans to sequence more than 100,000 Human genomic samples to fulfill the mission of identifying the genetic basis of severe and common genetic diseases in the Saudi population. Hence, it will establish the foundation for personalized medicine and genomic sciences in the Kingdom of Saudi Arabia. The program utilizes state of the art genome sequencing, bioinformatics and validation techniques.

The SHGP is divided into three main work categories as follows

1. Infrastructure build out

   • Establish central sequencing and bioinformatics site at KACST.

   • Establish satellite laboratories at multiple sites within KSA.

2. Training and Knowledge Transfer

   • Train a core group of scientists, bioinformaticians and technicians on genomics methodology.

   • Adopt new technologies, chemistries and computational capabilities as required for the SHGP

3. Solving disease genetics

   • Use gene panel, exome and whole genome sequencing of samples to identify the genetic basis of rare and common diseases in the Saudi population.

   • Develop a catalogue of disease and benign variants

   • Establish a database of population variants

With limited resources, major progress has been made since inception of the project. Most work to date has focused on rare diseases and has placed the SHGP as a world leader in rare diseases research.