Hyderabad: Amid a rise in cases of rare diseases in newborns, several couples from Telangana are queuing up for premarital genetic tests to assess the risk of passing on genetic disorders to their to-be-born children.
Doctors from Hyderabad indicate a five-fold jump in these tests in the last decade. They attribute this surge to increased awareness, easy accessibility, drop in the cost of testing, and an increase in fertility issues, among others.
The tests being opted for are to ascertain if the couples have a hereditary gene for spinal muscular atrophy (SMA), thalassemia, duchenne muscular dystrophy (DMD), fragile X syndrome (FXS), and cystic fibrosis, among other rare diseases, that are prevalent in India.
“Of late, even couples going for non-consanguineous marriages are also going for genetic testing. While I used to hardly see a case in a month or two, now the number has increased to at least 10 couples a month,” said Dr Pavani Upendram, consultant geneticist and genetic counsellor, KIMS Hospitals, adding how she started seeing an upward trend since the Covid-19 outbreak.
The test is done by taking blood or saliva samples from couples to see if they carry the same gene that can affect the next generation.
According to doctors, couples walking in for these tests comprise bureaucrats, software professionals, and others who are aware of rare diseases and also those who have a family history of hereditary diseases. Genetic testing or carrier screening can cost anywhere from Rs 40,000 to Rs 60,000 for a couple depending on the panel—number of genes they want to check.
Doctors say that while in a few cases, marriages were cancelled after genetic testing, the primary intention is to know the empirical risk to make an informed decision about their children and go for prenatal testing, if required, to enable early medical intervention which can help in having a healthy baby.
“We get a few hundred samples for premarital genetic testing, and they are growing between 40% and 65% every year,” Anu Acharya, CEO, Mapmygenome, told TOI. She also pointed out that while preventive tests used to cost roughly Rs 25,000 about 5 to 10 years ago, they now hardly cost Rs 6,000 to Rs 8,000. “The same goes with exome sequencing as the price is down from Rs 55,000 to about Rs 26,000 now,” she added.
Researchers at the Centre for DNA Fingerprinting and Diagnostics (CDFD) also confirmed a significant increase in the number of couples approaching them for premarital genetic testing.
Doctors from Hyderabad indicate a five-fold jump in these tests in the last decade. They attribute this surge to increased awareness, easy accessibility, drop in the cost of testing, and an increase in fertility issues, among others.
The tests being opted for are to ascertain if the couples have a hereditary gene for spinal muscular atrophy (SMA), thalassemia, duchenne muscular dystrophy (DMD), fragile X syndrome (FXS), and cystic fibrosis, among other rare diseases, that are prevalent in India.
“Of late, even couples going for non-consanguineous marriages are also going for genetic testing. While I used to hardly see a case in a month or two, now the number has increased to at least 10 couples a month,” said Dr Pavani Upendram, consultant geneticist and genetic counsellor, KIMS Hospitals, adding how she started seeing an upward trend since the Covid-19 outbreak.
The test is done by taking blood or saliva samples from couples to see if they carry the same gene that can affect the next generation.
According to doctors, couples walking in for these tests comprise bureaucrats, software professionals, and others who are aware of rare diseases and also those who have a family history of hereditary diseases. Genetic testing or carrier screening can cost anywhere from Rs 40,000 to Rs 60,000 for a couple depending on the panel—number of genes they want to check.
Doctors say that while in a few cases, marriages were cancelled after genetic testing, the primary intention is to know the empirical risk to make an informed decision about their children and go for prenatal testing, if required, to enable early medical intervention which can help in having a healthy baby.
“We get a few hundred samples for premarital genetic testing, and they are growing between 40% and 65% every year,” Anu Acharya, CEO, Mapmygenome, told TOI. She also pointed out that while preventive tests used to cost roughly Rs 25,000 about 5 to 10 years ago, they now hardly cost Rs 6,000 to Rs 8,000. “The same goes with exome sequencing as the price is down from Rs 55,000 to about Rs 26,000 now,” she added.
Researchers at the Centre for DNA Fingerprinting and Diagnostics (CDFD) also confirmed a significant increase in the number of couples approaching them for premarital genetic testing.
