 |
| Photo: Google Images |
DNA tests are used for the diagnosis
of various complex disorders. These tests also predict the chances of the occurrence
of monogenic (caused by a single gene) traits such as sickle cell disease and
cystic fibrosis.
However, some diseases are caused
by the combination of multiple genes (polygenic disorders) and environmental
factors and it is difficult to predict these diseases such as cancer and brain
disorders. The development of polygenic DNA tests revolutionizes the field of
medicine by predicting the future risk of these diseases. It will also
facilitate the development of precision medicine (therapies based on an individual’s
response to the disease).
Polygenic DNA tests will aid people
to take preventive measures against the disease risk that will help to avert
various chronic disorders.
“If we can shift the focus to
prevention, we could get a fundamentally different approach to healthcare,”
says John Bell at the University of Oxford.
Dr. Amit V. Khera and his team at
the Cardiovascular Disease Initiative of the Broad Institute in Cambridge,
Massachusetts, used polygenic DNA scores to identify people at high risk for,
atrial fibrillation, type 2 diabetes, coronary artery disease, breast cancer, and
inflammatory bowel disease. Khera said that “Our goal is to empower people to
overcome whatever [disease] predisposition is in their DNA,”
Various benefits offered by these
tests demand the routine use of Polygenic DNA tests for the screening of
complex disorders. Various companies claim that they have already developed the
tests. However, Alicia Martin, a population and statistical geneticist at
Massachusetts General Hospital, said, "We are still figuring out how to use
precision risk score in practice, and in which cases they can lead to
actionable and cost-effective measures.”
Although this technique has various
benefits certain risks are also associated with it such as high-risk individuals
may develop anxiety while low-risk people take their health for granted and
indulge in unhealthy activities.
“These tests have benefits, but
they also have risks and adverse events,” says Amit Sud at The Institute of
Cancer Research in London.
Therefore, it is very important to
effectively communicate the test score with people. Moreover, research is
underway to determine the benefits and harms of routine usage of polygenic DNA
tests.
References
https://www.nature.com/articles/d42473-019-00270-w
0 Comments