Noida: Child PGI gets Genetic lab, counselling facility for Rare Genetic Disorders

Noida: In a move to streamline the process of identification and investigation of rare genetic disorders among children, the Postgraduate Institute of Child Health (PGICH) in Sector 30 has launched a genetic laboratory.

The purpose of the lab will be to procure samples of the patients and investigate genetic disorders among the children. Aside from carrying out genetic research in the lab, it will also help to identify and cure rare genetic disorders. The lab will investigate common genetic disorders like Down syndrome, Cystic Fibrosis, Tay-Sachs disease, Sickle Cell Anemia, beta thalassemia etc., as well as rare genetic disorders like Duchenne Muscular Dystrophy (DMD), and Fragile X Syndrome (FXS), among others.

Similarly, the hospital has also introduced a new dedicated genetic counsellor on Friday at the department of medical genetics unlike any other in Delhi and NCR centres. It aims to provide free counselling to couples with a history of genetic disorders and planning to have children. On the other hand, couples without any such generic disorders will be able to avail the benefits of counselling. The facility is set to begin next week.

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The focus of the counselling also lies in the chances of recurrence of genetic disorders in a future pregnancy. The facility has been launched in collaboration with PGICH and Redcliffe Labs (unit of US-based Redcliffe Lifetech Inc) is India's fastest growing technology-empowered diagnostics service provider having its home sample collection service in more than 120 cities with 30+ Labs and 700+ Walk-in Wellness and Collection Centres across India.

According to the health officials, the genetic counsellor will offer support and information to families who are dealing with or at risk of genetic disorders. The counsellor will gather and analyse family history and inheritance patterns, determine the likelihood of recurrence, provide details on genetic testing and associated procedures; and assist in identifying families who may be at risk of a genetic disorder.

Speaking about the lab, Dr Ajai Singh, director, of PGICH told HT "The institute has an operational Medical Genetic Department, but samples of patients suffering from genetic disorders were sent to advanced labs outside for investigation. With the new genetic lab, investigation of rare genetic disorders like beta thalassemia will be conducted in-house. The lab will be used for genetic research and testing samples of patients".

Dr Mayank Nilay, expert, medical genetic department, PGICH, said "The incidence of genetic diseases in newborns ranges from 3% to 5% as most genetic diseases and malformations are found in newborns or young children."

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"Most genetic diseases cannot be cured, but it is possible to prevent them. The main purpose of genetic counselling is to educate people about genetic diseases that run in families. Definitive information regarding the likelihood of having a child with a genetic disorder and prenatal diagnosis through pregnancy test is important to the family," he said.

Dr Singh said "A memorandum of understanding has been signed between PGICH and Redcliffe Labs, a unit of Redcliffe Lifetech in the US, under which a free genetic counselling facility will be launched. Under this agreement, a dedicated genetic counsellor from the lab will be posted in the Medical Genetic Department of the institute."

Ishaan Khanna, director of reproductive medicine and genetics, Redcliffe Labs said "The primary goal of genetic counselling is to provide families with accurate information about the likelihood of having a child with a genetic condition as well as a prenatal diagnosis via a pregnancy test. Therefore, genetic counselling is the need of the hour. It not only saves money in the long run, but also saves lives."

Dheeraj Jain, the founder of Redcliffe Labs told TOI, "Rare diseases are estimated to impact about 6% to 8% of the population in any given country. Even a conservative estimate of the country's population of 1.35 billion results in a count of nearly 81 million people. Moreover, 70% of hereditary uncommon disorders manifest themselves in childhood. Besides, north India, in particular, is known to be very high in genetic disorders and is also characterised by consanguineous marriages, which increases the chance of rare diseases."