Most “Pathogenic” Genetic Variants Have a Low Risk of Actually Causing Disease

 


Doctors may be able to better assess true disease risk thanks to the findings of a large biobank study conducted by Mount S I-N A-I researchers 


Imagine receiving a positive genetic test result. The doctor tells you that you have a "pathogenic genetic variant", which is a DNA sequence that has been linked to an increased risk of developing diseases like diabetes or breast cancer. But exactly how likely are those 10 percent chances? What percentage? Exactly 100? At the moment, answering that question is difficult. 


Researchers at his Icahn School of Medicine analyzed the DNA sequences and electronic health record data of thousands of people stored in two massive biobanks to meet this demand. Overall, they found that about 7% of the time, a pathogenic genetic variant does not actually cause a disease. 


However, they also discovered that some variants, such as breast cancer-associated variants, are associated with numerous disease risks. The findings, which were presented in the journal, have the potential to alter the manner in which the risks associated with these variants are reported and, in the future, to assist physicians in better understanding how to interpret the results of genetic tests.


According to Ron Do, PhD, Associate Professor of Genetics and Genomic Sciences and a member of the Charles Bronfman Institute for Personalized Medicine, one major goal of this study was to produce helpful, advanced statistics that quantitatively assess the impact that known disease-causing genetic variants may have on an individual's risk to disease.


Over the past two decades, researchers have identified hundreds of thousands of variants that have the potential to cause a variety of diseases. However, it has been challenging to estimate or provide statistics on the actual risk of this occurring for each gene variant due to the nature of these discoveries. 


The majority of estimates have been derived from studies involving some subjects who were either recruited at disease-specific clinics or were members of a family with a history of the disease. However, studies like these that do not use large populations selected at random may overestimate the risk posed by variants


72,434 individuals' DNA sequences have been linked to 37,780 known disease variants. Researchers at Mount Sinai examined data from 43,395 participants in the UK Biobanks and 29,039 participants in the Bio Me® Biobank program. Initial findings indicated that 5,360 variants could be associated with 157 diseases


Some genetic variants' risks remained high in spite of these findings. For instance, individual pathogenic variants of the breast cancer genes BRCA1 and BRCA2 had rates ranging from zero to one hundred percent, with an average of 38 percent. 


Other advantages of using biobank data were demonstrated by additional results. For instance, the researchers were able to estimate the risk of individual variants linked to age-related diseases like breast and prostate cancer and some forms of type 2 diabetes. For individuals over the age of 70, the penetration of these variants was approximately 10%, while for those over the age of 20, it was approximately 8%. 


More than 100 variants that are only found in people of non-European descent were identified by the team, which also discovered that the presence of some variants may be influenced by an individual's ethnicity. 


Last but not least, the authors listed a few possible ways the study itself might have underestimated or overestimated the risks that were reported. 


According to Dr Do, we feel that this study is a good first step towards eventually providing doctors and patients with the accurate and nuanced information they need to make more precise diagnoses, despite the fact that more research is needed to be done

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