• Researchers believe they can make the diagnosis of medical conditions easier with the aid of genetics.
  • Because of this, in this research, a group of scientists looks at genotype and phenotype associations.


About the Research

A new study on longevity comes from Human Longevity, Inc. (HLI). They are an innovative company that provides data-driven health care to patients and doctors. The findings from this study are available through the journal Proceedings of the National Academy of Sciences (PNAS).

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.

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  • The study shows that genotype and phenotype associations may help in the diagnosis of certain diseases. However, genetic sequencing is not enough and a multifactorial and holistic diagnosis procedure is necessary to achieve precise results.