We may need a new map to properly interpret our genome
Genetic information may play an increasingly important role in the personalized preventive medicine of the future. Whole-genome sequencing could open up new possibilities for identifying susceptibility to and risk of specific diseases even before symptoms appear, emphasizes Dr. Gyula Richárd Nagy, a clinical geneticist at Semmelweis University. However, to achieve this, we must first accurately…
Whole-genome sequencing, the process of reading a person's nearly complete genetic information of over six billion DNA letters, could revolutionize personalized medicine by identifying susceptibility to diseases before symptoms appear. However, the accuracy of this tool relies on comparing the patient's genome to an appropriate reference sequence.
Currently, GRCh38 is the widely used reference, but researchers at Semmelweis University argue it has limitations. When analyzing the entire genome, automated software may flag healthy genetic variants as rare gene variants, leading to false alarms. A study by Semmelweis University researchers compared the whole genomes of 20 healthy Hungarians to GRCh38.
The automated analysis identified severe genetic variants in all 20 cases, but further expert review found these to be erroneous. This highlights a bioinformatics vulnerability. The problem arises because GRCh38 is not an average human genome but based on a single male's genome from Buffalo, USA. The researchers suggest a graph-based pan-genome could provide a more comprehensive genetic mapping system, covering human diversity more effectively.
This pan-genome graph already exists, but its routine clinical application is yet to be realized. The future of preventive medicine depends on technology's ability to keep pace with medical advances, as current IT systems may not support the use of massive databases required for such screenings.
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