NEW DELHI : The government is setting up specialist laboratories to conduct tests for genetic diseases, which is a leading cause of death among infants and children, in the poorest districts across the country.

There are 117 so-called aspirational districts that lack such diagnostic facilities.

The laboratories will be run under the human genetics and genome analysis programme under the department of biotechnology, ministry of science and technology, and aims to study specific inherited diseases among the Indian population.

The department is in the process of initiating programme on ‘Establishment of Diagnostic labs (NIDAN-Kendra)’ for genetic testing and counselling services.

“With the programme, we want to advance our understanding of genetic and genomic components of human physiology. We also need to see the interactions of these components with environmental factors and cultural practices. Thereby, looking at research areas involving individuals, families and populations," said Renu Swarup, secretary at the department of biotechnology.

According to the health ministry, at least 80% of rare diseases have an identified genetic origin and disproportionately impact children. Half of all new cases are in children and are responsible for 35% of deaths before the age of 1 year, 10% between the ages of 1 and 5 years, and 12% between 5 and 15 years. According to government estimates, the genetic and congenital disorder is the second most common cause of infant and childhood mortality, and occurs with a prevalence of 25-60 per 1,000 births.

Among common genetic disorders in India are Beta-Thalassemia, Cystic Fibrosis, Sickle Cell Anaemia, Spinal Muscular Atrophy and Haemophilia.

A programme for establishing genetic diagnostic centres and referral labs has also been initiated by the department, which will follow the policies of the National Accreditation Board for Testing and Calibration Laboratories (NABL).

“These laboratories are the need of the hour in our country, considering the scarcity of specialised genetic laboratories in the government system. Also, there is consequent mushrooming of private labs not following the international standards. The programme will help facilitate diagnosis of genetic disorders for the larger population of India and will also improve the societal awareness for these genetic disorders," said Swarup.

Genetic testing has enabled researchers and clinicians to detect inherited traits, diagnose heritable conditions, determine, and quantify the likelihood that a heritable disease will develop, and identify genetic susceptibility to familial disorders. Few laboratories offer genetic testing.

“Genetic tests may detect mutations at the chromosomal level, such as additions, deletions or rearranged chromosomal materials, or even subtler abnormalities, such as a substitution in one of the bases that make up the DNA. Genetic tests have diverse purposes, including screening for genetic disease in newborns, children, and adults; the identification of future health risks; the prediction of drug responses; and the assessment of risk to future children," said Zoya Brar, managing director and founder of CORE Diagnostics, a genetics specialized diagnostics laboratory chain in India.

“Doctors usually recommend genetic testing if one partner of a couple has a higher risk of passing on certain diseases like cystic fibrosis. Because of these screening tests, the number of people who have some disorders, is decreasing," she said, adding: “It is important to highlight that before one is pregnant. Results from genetic screening test can only help doctors to predict chances of passing genetic problem to children with more accuracy. It cannot tell conclusively if the child will have a disorder or not though such tests prove to be a great help." Even if someone is not at high risk, genetic counsellors can help a couple decide whether they should check their genes before planning pregnancy.

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