Clinical Genetics is a branch of Medical Science which deals with the detailed assessment, diagnosis and management of disorders having a genetic basis. The scope of these disorders includes childhood as well as adult-onset diseases. It can well be dubbed as the mother of all clinical sciences, or the upcoming baby, the springing offshoot of every branch of medical speciality. The scope and the spread of this branch is growing by exciting exponentials! Genetic counseling is an essential element of this science; empowering families with utility-oriented information which can help them understand the prognosis of the genetic disorder, the risk of recurrence of the condition in other family members, course of the disease, prognosis and the further management strategies.
According to a recent publication in New York Times, eminent scientists and researchers; Dr Reich from Harvard University and Dr Thangraj from Centre for Cellular and Molecular Biology (Hyderabad), indicated that there is a huge untapped burden of genetic diseases in India. (https://www.nytimes.com/2017/07/17/health/india-south-asia-castes-genetics-diseases.html)
With a rising trend in genetic disorders, there is a ‘felt-need’ for Experts in this branch, by patients and clinicians alike. Clinical geneticists are rare breed of physicians, few in number, for a booming potential of diseases.
Early suspicion by the parents or the referring physician is crucial to make an early diagnosis of Genetic disorders. Timely referral to a Geneticist can result in an early diagnosis, early institution of supportive care, and timely initiation of treatment modalities when available, undertaking active surveillance of known complications, and helping the family understand the risk of recurrence in their family.