Publications by authors named "J B Belmont"
Article Synopsis
- Clinical genome sequencing (cGS) shows promise in diagnosing rare genetic diseases, especially in underserved populations, with a study examining its effectiveness across high-income and low- and middle-income countries.
- The iHope program assessed 1,004 individuals and found a 41.4% diagnostic yield, with those from low- and middle-income countries being 1.7 times more likely to receive positive results compared to high-income counterparts.
- Over 76% of individuals experienced changes in diagnostic evaluation, and around 41% had changes in management strategies, indicating increased access to genomic testing may help reduce healthcare disparities globally.
Article Synopsis
- The study addresses the limitations of current genetic testing for cardiovascular disease (CVD) by introducing a comprehensive clinical genome test with semi-automated interpretation.
- The test assesses various genetic factors, including monogenic conditions, polygenic risk scores, and pharmacogenomics, using data from a broad genomic database.
- Findings suggest that this approach can effectively identify genetic risks for CVD, providing valuable information for patients and potentially enabling broader public health applications.
Early use of genome sequencing (GS) in the diagnostic odyssey can reduce suffering and improve care, but questions remain about which patient populations are most amenable to GS as a first-line diagnostic test. To address this, the Medical Genome Initiative conducted a literature review to identify appropriate clinical indications for GS. Studies published from January 2011 to August 2022 that reported on the diagnostic yield (DY) or clinical utility of GS were included.
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- * It highlights how precision diagnosis through genetic testing can improve management and treatment options, as well as facilitate monitoring of at-risk family members.
- * The authors note that while genetic testing is readily available, it's often under-utilized, and they suggest strategies for clinicians to incorporate testing into standard practice for specific cardiovascular conditions.