A Genetic Test for inherited diseases in Indian population
Every year, over a million babies are born in India with genetic disorders and 20 – 30% of infant mortality is due to these disorders. It is also estimated that there are over 50 Million people in India with single gene disorders.
To help address this problem, and to give couples planning on a baby get better understanding of their risks to pass on genetic disorders, MedGenome, India’s premier genomics based research and Diagnostics Company, has announced the launch of the Claria Carrier Screening Test. The unique ‘Claria Carrier screening Test’ is based on the Next Generation Sequencing (NGS) technology and leverages the Indian population genetic variant database created by Sir Ganga Ram Hospital over the last twenty years. Therefore enabling MedGenome to develop a highly focussed and cost effective test to screen for diseases and genetic variations that are very specific to Indian population. The Claria Carrier screening test is revolutionary in terms of the breadth and depth of coverage of disease areas that it can screen for.
“India has a heavy burden of genetic disorders, owing to our ancient population history, inbreeding, high birth rates, consanguinity and lack of awareness among people. We believe our Claria Carrier screening test developed in collaboration with Sir Ganga Ram Hospital will help in creating a large impact in India and benefit a significant part of the population,” said Sam Santhosh, Chairman, MedGenome.
The Claria Carrier Screening Test provides vital information of “Carrier” status to couples and their risks of passing down recessive diseases (condition where a person has two copies of an abnormal gene) to their child. Based on superior NGS (Next Generation Sequencing) Technology the Claria Carrier Screening test can detect over 1300 recessive diseases and disease-causing variations. In addition MedGenome Claria has a dedicated expert genetic counselling unit, which offers absolutely free genetic counselling to help couples understand key genetic information while planning for a baby.
The Claria Carrier screening test solution was developed in-house by MedGenome, in association with Sir Ganga Ram Hospitals and under the guidance of Dr. I.C Verma. It has been validated by clinicians and will be available across India in about 500+ of MedGenome’s partner network hospitals.
Dr. Verma, Director of the Institute of Genetics and Genomics at Sir Ganga Ram Hospital, New Delhi informed that “genetic disorders are common in India due to consanguineous and endogamous marriages. The new technologies of genetic sequencing, through carrier screening in the preconception period or in early pregnancy, allow the couples to check whether they carry harmful mutations, and provide them reproductive options that help to prevent the birth of babies affected with serious genetic disorders. Medgenome has introduced cheap carrier screening tests for couples for 100, 500 and 4500 genes of relevance in our country. It will help reduce the burden of genetic disorders in India.”
Some of the most common genetic disorders in India are beta-Thalassemia, G6PD Deficiency, Cystic Fibrosis, Amino Acid Disorders,
Sickle Cell Anaemia, Congenital Adrenal Hyperplasia, Spinal Muscular Atrophy, Growth Hormone Deficiency, Haemophilia A Mucopolysacchridosis, Muscular Dystrophy, Non-Syndromic Hearing Loss etc.
“With high throughput Next Generation Sequencing and cutting edge bioinformatics we can screen for almost all the recessive diseases with high accuracy at an affordable price. This is a big boon for all the couples, high risk individuals, families, communities and ethnic populations in India,”said Dr V.L. Ramprasad, COO, MedGenome.