Findings demonstrate the future utility of targeted sequencing and gene panels to reduce burden associated with diagnosing rare inherited disease

Carlsbad, Calif. – (May 19, 2015) – Clinical researchers from the Saudi Human Genome Program (SHGP), a national research project focused on studying the genetic basis of all disease in the Kingdom and throughout the Middle East, presented data that demonstrates groundbreaking results suggesting the potential to one day diagnose inherited diseases through genetic tests based on a collection of 13 gene panels that cover all known Mendelian rare diseases. The findings were shared during the Personalized Medicine Conference 2015 in Riyadh, and represent a first major national effort of this scale.

Using high-performance gene panels that cover all known Mendelian diseases and associated variants to screen clinical research samples, scientists from King Faisal Specialist Hospital and Research Centre (KFSH&RC) showed that the approach offers an optimal solution for addressing the burden of rare inherited diseases. They also demonstrated that in the future it could effectively reduce the time-consuming odyssey associated with identifying rare disease (often consisting of multiple doctor visits over several years) on average, for most, to one week. Clinical researchers with the SHGP further confirmed that the method offers a trifecta for personalized medicine: low cost, high rate of accuracy and robust scalability.

“The Mendeliome study of the SHGP is one of the most significant initiatives undertaken thus far anywhere to address the social and economic burden of inherited disease at a national level,” said Brian Meyer, Ph.D., chairman, Department of Genetics Research Centre for King Faisal Specialist Hospital and Research Centre.

Presentations from the event, hosted by KFSH&RC included a wide array of topics, from genome research to precision medicine, by renowned speakers, including Fowzan AlKuraya, M.D. of KFSH&RC, Craig Venter, Ph.D., founder, J. Craig Venter Institute, Robert C. Green, M.D., MPH., Associate Physician, Brigham and Women's Hospital and Associate Professor of Medicine, Harvard Medical School, and James Lupski, M.D., Ph.D., D.Sc., Cullen Professor of Molecular and Human Genetics for Baylor College of Medicine, Prof Munir Pirmohamed MB ChB (Hons), MRCP, PhD, FRCP, FRCP(E) from the University of Liverpool, and Michael Mansour, MD from Massachusetts General Hospital, among others.

Presentation from KFSHRC clinical researchers marked the first set of data to be released since the launch of the SHGP in 2013. At that time, the Kingdom announced its endeavor to position itself at the forefront of personalized medicine and empower its citizens to make informed decisions related to their health.

The SHGP is funded by the King Abdulaziz City for Science and Technology (KACST), Saudi Arabia's national funding agency, and is developed in partnership with Thermo Fisher Scientific. The ambitious program leverages the Ion Proton DNA sequencer and Ion AmpliSeq™ inherited disease gene panels with the goal of sequencing 100,000 human genomes through a national network of genome screening centers throughout the Kingdom, to study both normal and disease-associated genes, specific to the Saudi population.

This genomic variant data will provide the basis for future development of personalized medicine in the Kingdom and represents the most comprehensive effort to identify the disease-causing genes for the population of a country and Arab peoples.

"Thermo Fisher is proud that our innovative technologies have played a supporting role in helping SHGP scientists reach their initial findings,” said Mark Stevenson, executive vice president for Thermo Fisher Scientific. “We also applaud KACST's vision to position the Kingdom of Saudi Arabia as a world leader in genetic research to make precision medicine a reality in the Kingdom.”

The Ion Proton and Ion AmpliSeq™ inherited disease gene panels are For Research Use Only. Not for use in diagnostic procedures.

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