Precision medicine of monogenic disorders: Lessons learned from the Saudi human genome

Front Biosci (Landmark Ed). 2019 Mar 1;24:870-889.

Abstract

Congenital and genetic disorders cause many diseases in Arab countries due to large family sizes and high levels of inbreeding. Saudi Arabia (SA) has the highest consanguinity rates among Middle Eastern countries (~60% of all marriages) and is burdened by the highest number of genetic diseases. Genetic diseases can be life-threatening, often manifesting early in life. Approximately 8% of births in SA are affected, and more common genetic diseases, such as metabolic disease and cancer, manifest later in life in up to 20% of the population. This represents a massive healthcare burden to SA hospitals. The number of genetic disorders in the human population ranges from 7000 to 8000, over 3000 of which are caused by unknown mutations. In 2013, SA initiated the Saudi Human Genome Program (SHGP), which aims to sequence over 100,000 human genomes, with the goal of identifying strategies to discover, prevent, diagnose and treat genetic disorders through precision therapy. High-technology genomics and informatic-based centers that exploit next-generation sequencing (NGS) have now identified mutations underlying many unexplained diseases.

Publication types

  • Review

MeSH terms

  • Autoimmune Diseases / genetics
  • Central Nervous System Diseases / genetics
  • Congenital Abnormalities / genetics
  • Consanguinity
  • Female
  • Genome, Human*
  • Genomics
  • Humans
  • Intellectual Disability / genetics
  • Kidney Diseases / genetics
  • Limb Deformities, Congenital / genetics
  • Male
  • Mutation
  • Neoplastic Syndromes, Hereditary / genetics
  • Precision Medicine / methods*
  • Saudi Arabia
  • Sequence Analysis, DNA / methods*