TAIPEI, TAIWAN, Apr 30, 2024- A recent study indicates that genetic disorders often go undetected in populations, yet exome sequencing emerges as a promising solution to identify these hidden conditions.
The Icahn School of Medicine at Mount Sinai explored the efficacy of exome sequencing in identifying genetic disorders among apparently healthy individuals, aiming to detect gene variations that predict disease risk.
Deciding which genes to examine remains a significant hurdle in genetic screening, as not all gene variations clearly lead to disease. The challenge underscores the importance of refining gene lists, as demonstrated by this study.
Utilizing data from the UK Biobank, researchers identified specific genes linked to diseases. By comparing this data with Mount Sinai's BioMe biobank, they discovered gene variations in individuals with no prior diagnoses, highlighting the potential for early detection.
The study focused on nine disorders, including various cancers, ALS, heart issues, high cholesterol, and a rare eye condition. Among over 29,000 participants from the BioMe group, they identified 303 gene variations in 54 genes across 614 individuals.
Most of these individuals were unaware of their predisposition to these disorders since they didn't display any symptoms. However, a closer look at their health records revealed signs of these diseases in some cases.
For instance, they identified two individuals with variations in the PKP2 gene associated with heart problems. Upon reviewing their health records, it was confirmed that these individuals indeed had heart issues. Similarly, three others with variations in the LDLR gene linked to high cholesterol showed signs of elevated cholesterol levels in their health records.
While this study offers promise, it also comes with limitations. Relying solely on existing health records might overlook cases where individuals have gene variations but haven't yet developed symptoms. Future studies could address this by conducting additional tests after identifying gene variations to better predict disease development.
Additionally, the UK Biobank data predominantly represents healthy, younger individuals, raising concerns about the inclusivity of genetic screening programs across different demographics, especially considering racial and ethnic diversity.
Overall, this study marks a significant stride in leveraging genetic screening to uncover hidden diseases in our population. By integrating genetic information with health records, we can identify diseases that might otherwise remain undetected. However, there's still work to be done to ensure that these screening programs are equitable and accurate for all individuals.
Reference:Â
[1] Population Genetic Screening Would Reveal Patients With Underdiagnosed Disorders, Study Suggests
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