What is it about?
The study highlighted that 2.3 percent of the Qatari individuals with whole genome sequence data carried a pathogenic (meaning disease causing) or likely pathogenic variant in one of the 59 genes identified as medically actionable by the American college of Medical Genetics and Genomics. The study reported total of 60 disease-causing mutations linked with cancer, heart diseases, high cholesterol level and other diseases these genes are related to.
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Why is it important?
The ability to identify and to return secondary findings with potentially lifesaving interventions is indispensable to help the patients, family members, and the clinicians to identify the best interventions and medical follow- up strategies. Also, the study help to fill the gap of knowledge in the underrepresented Arab and Middle Eastern populations.
Perspectives
I hope this article leads to lifesaving interventions that could help the patients, family members, and the clinicians to identify the best interventions and medical follow- up strategies.
Dr. Amal Elfatih
Hamad Bin Khalifa University
Read the Original
This page is a summary of: Actionable genomic variants in 6045 participants from the Qatar Genome Program, Human Mutation, September 2021, Wiley,
DOI: 10.1002/humu.24278.
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