WHAT THE STUDY ACTUALLY SAYSLinking exome data to electronic medical records solved 15% of unexplained hearing-loss cases and flagged new candidate genes — while showing what the records could not supply.
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ANALYSISThe country's blood-spot programme has run since 2003 and reaches nearly every baby. A pilot adds genomic sequencing — where a study of Qatari genomes suggests the biggest gains lie.
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WHAT THE STUDY ACTUALLY SAYSA mandatory citywide programme sequenced 782 genes in 1,000 prospective couples. The at-risk rate was double that of a comparable Australian study, and most flagged couples still chose to marry.
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WHAT THE STUDY ACTUALLY SAYSA meta-analysis of 27 randomised trials found that disclosing a polygenic risk score did not meaningfully shift diet, screening uptake, medication use, anxiety or cholesterol.
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Two Nature papers describe the Taiwan Precision Medicine Initiative and the risk scores built from it. The genetic effects identified explained up to 10.3% of health variation in the cohort.
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