The Question of Genetic Influence on Longevity

Researchers from various disciplines look at the importance of DNA as a factor that contributes to the development of diseases. Also, it is well known that genetics is a complex and often multidisciplinary field of research. The researchers from HLI build on this tradition with their own inquiry about the correlation of genes to certain diseases.

For the purpose of this study, the researchers look at 1190 individuals. Their aim was to determine if it is possible to identify what diseases have a genotype to phenotype association. That is, they wanted to see if it is possible to determine what disease someone will suffer from, through genetic sequencing.

Therefore, the researchers look at the genotype of the participants but they also look at phenotypical expressions (or phenotyping). So, they integrate the findings from genetic sequencing with imaging, blood tests, etc. The reason they perform such extensive studies lays in their companies’ approach to medical research. That is, they employ a holistic and data-driven approach to medical research and diagnosis.

The research findings from this study show that 1 in 6 participants (17.3%) had a pathogenetic genetic variant. Furthermore, once the phenotyping was included, in the analysis, 1 in 9 (11.9%) had a genotype and phenotype association. In those examples, the association supports the diagnosis of a genetic disorder. But, 5.8% of participants had a pathogenetic genetic variant and no association between genotype and phenotype.