why is important to identify genetic risk variants?

Question

[Sakhaa]

Hello everyone,

I am a new student in genetics filed and I am interested to study the human genetic variations. Recently I read about genetic risk factors, but I don't understand what is the benefit of identifying genetic risk variants?

Thank you!

Answer 1

[Kevin Blighe]

It is important, both morally and economically, to identify those who are at increased risk of disease based on their DNA. 'Morally' due to the fact that, when one understands that one is at increased risk of a disease, one can then modify one's life choices in order to mitigate that risk. 'Economically' in the sense that, by avoiding the onset of disease / serious illness, one avoids treatment and/or hospitalisation, and thus reduces strain on a health system, or strain on one's own finances.

Unfortunately, we are in a time when commercial ventures are in virtual full control of healthcare, and it is economically favourable [for companies] that people are ill.

Some examples of risk that can be attained from one's DNA include:

• lifetime risk of cancer via cancer predisposition genes (BRCA1, ATM, TP53, EGFR, etc)
• 1-, 5-, 10-year risk of cardiovascular disease
• risk of autoimmune disease (many develop later in life for complex and diverse reasons)
• risk of developing Alzheimer's disease by a certain age

In an ideal test, it would not just be DNA that is considered, but a test that incorporates other parameters, like, e.g., blood levels of certain inflammatory markers.

Kevin