Genomics and Human Health


Genomics has been shown to play a major role in the most common causes of death in the UK such as cancer and heart disease. Both conditions are caused by a combination of different factors such as lifestyle, body weight, diet, etc. but both have also been shown to be influenced by genetic factors. Although the genetic make-up of humans is 99.9 percent identical, the remaining 0.1 percent that makes every individual unique also makes an individual more susceptible to certain health problems. And one of the main goals of genomics is to determine how the knowledge of an individual’s genetic make-up can be used to improve health and prevent illnesses.

Through the study of influence of environmental factors and behaviour on genes, the scientists can learn why some people get sick and the others do not despite the fact that they are exposed to the same environmental factors and have a similar lifestyle. That way the scientists and health practitioners can evaluate an individual’s risk of developing a particular disease as well as develop measures to prevent it or at least reduce its risk to the minimum.

The influence of genetic factors on an individual’s risk of particular conditions is usually evaluated through the knowledge of family history of that condition. For example, a person who has a strong family history of cancer is considered at increased risk of developing cancer at some point of life as well. This, however, does not necessarily mean that the person will indeed develop cancer.

For example, to evaluate an individual’s risk of breast cancer, a genetic test is made to determine the presence of mutated genes BRCA1 and BRCA2 which are associated with breast and ovarian cancers. However, the mentioned two genes are responsible only for about 5 to 10 percent of all breast cancer cases. In addition, not all women who have either of the mentioned genes develop breast cancer. For that reason new tests and technologies are being developed in order to look at multiple genes and their relationship. And this is where genomics steps in.

Genomics also plays an important role in pharmacy. There is even a field of genomics known as pharmacogenomics which is focused on the study of genetic variation and its influence on drug response in patients including drug resistance, efficiency, toxicity, side effects, etc. That way it is possible to develop effective drug therapies in regard to the patient’s genotype and decrease the risk of side effects at the same time.

Despite the advances in genomics, the researchers still do not fully understand the influence of genetic factors on an individual’s health nor fully take advantage of the knowledge in the field of genomics. But new discoveries are made virtually on a daily basis, while application of genomic technologies and knowledge shows a great potential for health care in the future in both prevention and treatment of common as well as rarer conditions.