The recent case of Angelina Jolie, a celebrity in US, has bought the public attention for the application of genomics for the clinical genomics. She had undergone surgery to remove her breast to avoid the risk for breast cancer. The scientific basis for this decision was a genetic test which showed a mutation in BRCA1 and BRCA2. This mutation has been shown to increase the risk for breast cancer. Such incidence will definitely push the efforts to implement this technology for clinical need in society.
The efforts to tap this market have already been started. There has been increase in the investment both in the opening of new laboratory to provide the gene sequencing service and to propose new tests for the clinical purpose. It is therefore important to explore the potential benefits and limitation of this technique.
The clinical practice to use the genetic test for the diagnostic purpose is not new. One of the successful uses of genetic test is the identification of Huntington disease (previously referred to as Huntington’s chorea). Huntington disease (HD) is a neurodegenerative disorder characterized by nervous and motor degeneration. The affected person eventually succumbs to the disease later in life. The genetic cause of the disease was identified. The gene responsible for the disease contain the trinucleotide CAG repeat 10 to 35 times in normal individual which increases (>100) in the affected person. So genetic test identifies the disease well before it manifests which enable the person and the family to take appropriate decision. The current advancement in the technology promises a new hope to manage and treat diseases. This technology has a potential application in the personalized treatment by the drug. It is a general observation that some individual responds well to a particular therapy but the other persons do not respond well to the same therapy. If we know the genetic basis for the behavior, we could treat a patient based on their genetic makeup. This will definitely bring a paradigm shift in the therapy of disease. Unfortunately there are not many successful cases as the Huntington disease (HD).So the natural question is to develop a framework to identify and validate the genetic tests so these can be used for the clinical intervention.
A genetic test can be only validated if the proper research has been conducted across ethnicity, race and geographical boundaries. This requires the development of an institution which inspect and regulates the entire processes. The conclusion drawn by few centers and publication must not be sufficient to design a new genetic test. Since genetic tests are expensive, these should only be suggested to patient if these are required and provide a necessary therapeutic advantage.
There is also need to examine the state of medical institution that plays very critical role in the implementation of genetic tests to the patients. There is a need to see whether the present curriculum is sufficient to make the new medical graduates aware of the genetic issues. So far the genetics has not been a focus area in the medical curriculum. Without the proper technical expertise, any clinical intervention will not be successful.
In US ,the Federal Food and Drug Administration Federal Food and Drug Administration (FDA) regulates the development of new tests.US congress has passed a bill in 1988 which regulates the development and the implementation of the genetic test. In India CDSCO (Central Drug Standard Control organization ) is the organization to regulates the development of new genetic test in India. It is required that these institution should take the proper initiative so that the issues involved in the development and implementation of genetics tests should be recognized and necessary regulation should be in place.
One can not deny the fact that the clinical genomics promises a new opportunity to bring a new hope for many diseases and patients. This will definitely improves the quality of the patient if implemented properly. At the same time there are many concerns which needs to be recognized. It will be important for the people to see how the country and society take the new challenges associated with clinical genomics.