Expressing concern over the growing genetic disorders in India, Igenomix, a leading reproductive genetic solutions provider, has emphasised the need to spread awareness on advanced tests like Carrier Genetic Test (CGT), Preimplantation Genetic Diagnosis (PGD) and Preimplantation Genetic Screening (PGS) which are aimed at preventing genetic diseases. This will scale up adoption of high end genomic tests in the country.
Genetic disorders are becoming a significant health burden in India. In March 2006, a research carried out by Dimes Birth Defect Foundation reported the birth defect pervasiveness in India at 64.4 over 1,000 live births. Factors contributing to this high prevalence include consanguineous marriages, high birth rate, improved diagnostic facilities, lack of awareness about genetic diseases and a lack of expertise in genetic counselling.
“Genetic diseases cannot be cured but can be prevented with the advanced tests. We all have changes in our genes, and CGT is an important genetic test for family planning which can help in identifying if the parents are the carriers of the genetic disorder and determines your risk of having an affected child. The test needs to be conducted on both the partners. In the cases where both partners are found to be a carrier of the same recessive gene, they can ask their specialist about PGD to conceive a healthy child. PGD is generally performed on a small embryo biopsy and it helps to identify which embryos are not at risk of developing single gene disorder. It enables selecting those embryos which are not affected by that genetic disorder. This genetic test can be performed during IVF treatment,” said Dr Rajni Khajuria, former researcher at AIIMS and lab director at Igenomix.
PGD is indicated for couples with known personal or family history of monogenic disorders such as cystic fibrosis, fragile X syndrome, spinal muscular dystrophies (SMA), Duchenne muscular dystrophy (DMD), Huntington disease, Thalassemia and many more. Even fertile couples who have a known history of a genetic condition in their families can consider PGD testing. Couples who are already undergoing IVF should consider additional pre-conception screening to identify any genetic disorder which their baby might be at an increased risk of developing, she said.
A recent research at Igenomix reveals substantial increase in IVF success rates for patients undergoing conception through IVF by employing PGD followed by preimplantation genetic screening for chromosomal abnormalities. Carrier genetic testing can reduce the risk of transmitting genetic disorders to 1:100,000.
Talking about measures to increase advanced tests' adoption in the country, Dr Khajuria said, “The problem of genetic disorders is increasing in our country due to the lack of awareness regarding genetic disorders and tests which can screen them, hence there is a need for adequate and effective genetic testing, counselling services and awareness about the genetic diseases. As the advanced technologies are evolving very fast and the new genetic technologies are being introduced, this brings the need to validate all these new techniques based on preclinical and clinical research evidence for their efficacy, cost effectiveness and long term benefits before implementing them in in clinical setting. There is a need of having a multidisciplinary approach including government, policy makers, regulatory committees, clinicians, geneticists, counselors and the patients, so that a proper diagnosis and counseling can be given to the family to make better decisions on choosing the right test after proper understanding.”