MedGenome has now introduced Claria Carrier screening test. The new 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 20 years.
Over a million babies are born annually in India with genetic disorders and results in 20 – 30% of infant mortality. It is also estimated that there are over 50 million people in India with single gene disorders.
“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 Claria Carrier screening test developed in collaboration with Sir Ganga Ram Hospital will help create a large impact in India and benefit a significant part of the population,” said Sam Santhosh, chairman, MedGenome.
The test provides vital information of Carrier status to couples and their risks of passing down recessive diseases to their child. It is a condition where a person has two copies of an abnormal gene. Based on superior NGS, the Claria Carrier screening test can detect over 1,300 recessive diseases and disease-causing variations. In addition, MedGenome has a dedicated expert genetic counselling unit, which offers free counselling to help couples understand key genetic information while planning for a baby.
The 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 technology tests for 100, 500 and 4,500 genes are 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 NGS and 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.