How Genetic Variants Interact Shapes Disease Predisposition

 This article speaks on how genetics is changing as a whole, and how difficult it is to diagnose and help the patient in the long run. The team describes just how important it is to focus on the whole genome rather than a single gene, it helps everyone understand how someone could be genetically predisposed to certain diseases and how they later develop. There are various diseases that someone can have such as cystic fibrosis, which is considered a genetic mutation. It is known that a primary variant triggers diseases, but the secondary variant is what alters it and makes it worse. There is a term called variant expressivity which means a difference in the secondary variants a person can have. 

The researchers who wrote this article speak on genetic change that they’ve seen over the years known as a 16p12.1 deletion, this is just when a piece of chromosome 16 is missing. This is said to make genomes more sensitive to certain neurodevelopment disorders. “One such factor contributing to disease risk is an individual’s genetics, with some individuals inheriting specific genetic variants that either (1) directly trigger disease pathogenesis or (2) work in concert with other factors and/or other genetic variants to increase disease risk” (Gene–environment interactions and their impact on human health, 2023). From now on, physicians are trying to study an individual's full genetic profile instead of one singular piece so they can get a better understanding of what the patient is at risk of.