Genetic tests: Who will check the gene checkers?

As someone who is quite conscious of her health and never skips an annual checkup, management consultant Riddhi Kaul’s curiousity was piqued when she heard about a company offering to predict one’s risk of heart disease and analyse how one’s body metabolises certain drugs, through genetic tests, without a doctor’s prescription. She soon placed an order and had blood samples picked up and shipped to MedGenome, a US-headquartered firm with its India office in Bengaluru, which recently launched direct to consumer (D2C) genetic screening tests that can be ordered online for Rs 4,500-6,000. “I signed up my husband for the heart test and I did the drug response test. I thought it could come in useful later,” says Kaul, who is in her 30s.“We identify the genetic profile of a particular disease for an individual and, using a validated statistical algorithm, we give a risk score, telling them whether they are at a higher genetic risk for coronary artery disease, at moderate risk or average risk,” says Dr VL Ramprasad, CEO (India) of MedGenome, which specialises in genetic research and diagnosis. “We give you the odds ratio along with the risk score: that you are 1.7 or 2.3 times at higher risk than an average individual,” he says.Anu Acharya, CEO of Hyderabad-headquartered MapMyGenome, says demand for similar D2C tests offered by her company has been growing. “There has been an uptick due to the pandemic,” she says. Companies say these tests can make customers more aware of their risk and enable them to take early preventive action.Not every expert is convinced of the benefit of such genetic tests for conditions like heart disease or Type 2 diabetes, for which a multitude of factors come into play. “It’s not that they have no genetic component but the genetic component is very small. There is a much larger environmental component. For example, you cannot type the genome of an individual and say you will develop obesity. At best you can give odds of 1.1, or 10% more risk compared with normal population, but just as you are unlikely to stop driving because of the odds of having an accident, you are unlikely to stop having sweets if I tell you that you have a 10% additional risk compared with the normal population of developing diabetes,” says a senior genomics researcher at another organisation, who requested not to be named.Acharya agrees that multiple factors can be responsible for such conditions which is why, she says, genetic counselling is part of their package, to help clients interpret results.While the jury might be out on the necessity of doing a genetic test to determine the risk of coronary disease, other applications of genome sequencing are also growing in India — from rare disease diagnosis to cancer treatment to prenatal tests — and it would only accelerate, opening up new avenues and simultaneously, underlining the need for domestic regulation.A genome has all the genetic information of an organism. Ever since the first genome was sequenced by an international consortium in 2003, genetic testing and its applications have been growing by leaps and bounds. In India, the first full genome sequencing was completed in 2009, with a sample from a 52-year-old from Jharkhand, by scientists at the Institute of Genomics and Integrative Biology under the Council of Scientific and Industrial Research (CSIR-IGIB). One of the important consequences of this was the setting up of a unique consortium of over 300 clinicians and researchers, called the Genomics for Understanding Rare Diseases: Indian Alliance Network (GUaRDIAN).“The idea is to use genomic sequencing to find causal mutation in a particular genetic disease, and use the findings to develop affordable diagnostic tests,” says Dr Vinod Scaria, a cofounder of GUaRDIAN and one of the scientists who sequenced the Indian genome. About 1,000 cases a year are referred to the consortium.It was to GUaRDIAN that Dr Radha Mahadevan, a neurologist at Tirunelveli Medical College, turned after she tracked down over 300 individuals from an ethnic community with an undiagnosed disorder that was causing seizures and tremors if they heard a loud sound or saw a sudden flash of light. She wanted GUaRDIAN to sequence their genomes and get to the bottom of the mystery. This turned out to be the largest cohort in the world with the rare syndrome of autosomal dominant cortical tremor, myoclonus and epilepsy (ADCME), caused by a genetic mutation. A diagnostic test at a reasonable cost and a dedicated clinic to treat the disorder and provide genetic counselling are in the works. “If we can counsel the community and at least prevent marriages among close relatives, we can reduce the chances of transmission,” says Mahadevan.In cancer treatment, genomics-based diagnostics is increasing, both to understand which drugs might be more effective as well as to analyse whether an inherited mutation is responsible. “The number of patients opting for genomic testing across our centres has doubled to 1,000 a month in five years,” says Dr Mithua Ghosh, director of Triesta Genomics and Translational Research Centre at the cancer hospital Healthcare Global (HCG), which has partnered with genomics research and testing firm Strand Life Sciences.MedGenome’s Ramprasad, too, says oncologists are increasingly suggesting genetic tests for treatment and management. “Two years ago, we used to do about 100 tests a month. Today, we are doing 1,500.” Non-invasive pre-natal testing is another field where genetic testing is seeing growth.The completion of Genome India, an ambitious effort to map India’s genetic diversity by sequencing samples of 10,000 individuals and develop an Indian reference genome, will be a catalyst for the field (over 95% of the whole genome sequencing done globally so far has been of Caucasians). “The pandemic did hurt our efforts but we are working hard to complete it ahead of time, which is January 2023. The completion will play a crucial role in precision medicine,” says Dr Vijayalakshmi Ravindranath, founder-director of Centre for Brain Research, who is coordinating efforts.But while the opportunities genomic medicine offer seem game-changing, experts under line the need for India to formulate legislation for this field. “We need to urgently come up with a regulatory framework for genomic medicine in India because there are a lot of ramifications, such as the potential for discrimination,” says Scaria. A potential employer should not turn down a candidate or an insurer a customer, based on genetic test results that might show the risk of developing a disease later. Countries like the US have laws to prevent this. Nor is there a law to safeguard the genetic data of patients, though companies say they adhere to international rules and regulations.MedGenome’s Ramprasad says India needs to develop its own consensus guidelines on when tests such as non-invasive pre-natal testing should be used as well as quality accreditation of laboratories that do genomic sequencing and surveillance.With costs likely to reduce with advancements in technology and greater adoption, the urgency for guidelines will only increase.

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