Science and Technology

Post-Covid rush for genome test

M Ramesh | Updated on July 04, 2021

Genes tell all — from which drugs work best for you, to your ancestry   -  ISTOCK.COM

Newer technology and falling costs, too, are aiding the growth of direct-to-consumer genomic services

Has the Covid-19 pandemic given a boost to direct-to-consumer (DTC) genome sequencing services? Evidence on the ground suggests it has.

DTC genomics, where a lab provides sequencing (and, if called for, genetic counselling) services directly to the consumer, without the intervention of a doctor, has been around for some years.

The benefits have always been known. A genome test can look into your genes, check for any anomalies and make some predictions, such as whether you are predisposed to a certain disease.

The science is fairly simple. Scientists look for ‘single nucleotide polymorphisms’ (SNP) in the non-coding genes. The SNP is a variation in the position of a single nucleotide in a DNA sequence — say, in place of a nucleotide Adenine you have the nucleotide Cytosine. SNPs themselves do not cause disorders, they just red-flag them because some SNPs are associated with certain diseases. A pedagogical article in Nature.com explains it thus: “If certain SNPs are known to be associated with a trait, then scientists may examine stretches of DNA near these SNPs in an attempt to identify the gene or genes responsible for the trait.”

In effect, a genome testing can lead to expert advice on what you should or should not eat, whether you would be a good athlete or a musician, which drugs work best for you if you acquire a disease, to which part of the world you trace your ancestry, and so on.

Though useful, DTC was not very popular because it was costly. A full genome profile could cost up to ₹1 lakh; a nutritional adviser and fitness planner, or a health assessment test could cost about ₹20,000. However, demand was expected to grow. The Indian market was on the radar of global companies. In January last year, US company Precise.ly announced a partnership with the Narayana Health hospital network for delivering next-generation sequencing and “ personalised and preventive healthcare”.

The pandemic has nudged this trend further. “Due to the ongoing Covid pandemic, people have become more health-conscious, potentially leading them to use new and advanced techniques like consumer genomics,” says Bithiah Grace Jaganathan, Department of Biosciences and Bioengineering, IIT-Guwahati.

Anu Acharya, CEO of Mapmygenome, the Hyderabad-based company she founded in 2013, agrees that more people are seeking the company’s services after the pandemic. When the first wave was raging, the company opened a lab at the Hyderabad airport for Covid-19 tests. Through it many came to know of the other genomic testing services.

Companies that were earlier providing genomic sequencing for areas like pharmacogenomics (to determine which drug works best against, say, cancer), are now seeing demand for personalised tests.

Mumbai-based Lilac Insights has, for several years, been providing genomic services such as prenatal screening for genetic disorders in unborn babies. Now, given the growing demand, Lilac wants to get into DTC, says the company’s co-founder and Director Subhamoy Dastidar.

Falling costs

All experts Quantum spoke to were confident that costs will fall, leading to more demand for DTC genomics. It’s not just economies of scale (you can bulk order reagents at a cheaper cost) but also emerging technologies that are making consumer genomics more affordable.

Rakesh Mishra, who was until recently Director of Hyderabad-based Centre for Cellular and Molecular Biology, points out that today it is possible to sequence long strands of DNA; earlier, one would have to 200 or 300 pieces of it and assemble them to get the full view.

Further, with more people using these services, the database becomes more robust and the algorithm can provide the information needed even with a smaller sample, says Mishra. That will further lower the cost. Also, with more Indian data, the predictions will be more precise. Today, the use of global data, available free or for a fee, could throw up imperfect predictions due to ethnic differences.

Falling costs naturally lead to cheaper services. For instance, Mapmygenome’s ‘Genomepatri’ services, which gives “15 reports which help you discover genetic strengths and vulnerabilities that affect your body’s immune system and risk of disease”, costs ₹7,500 today, compared with ₹25,000 a few years ago.

Medical and wellness

Under ‘personalised genomics’, there is a distinction between ‘medical’ (like cancer prevention and pharmacogenomics) and ‘wellness’ (nutrition and lifestyle) services. But the demand for one feeds the other. Acharya says people who come for health reasons also check their ‘ancestry’ out of curiosity.

However, in the case of disease prevention, the falling cost of consumer genomics could mean lower health bills over time. “Consumer genomics has big scope in screening for specific mutations for cancer,” says Grace Jaganathan. “For diseases such as diabetes, heart and cancer, identification of the gene associations can help develop precision medicine,” she says. She, however, cautioned that genome testing should be cross-validated by other medical tests, because “genetic risk does not always mean disease incidence”.

Genomics expert Amjad Hussain, Principal Scientist, IISER, Bhopal, foresees an increase in demand for these tests, especially for cancer and metabolic disorders. Acharya believes every diagnostic lab will offer this service in the near future.

Data issues

So, as consumer genomics becomes affordable and commonplace, a few related issues pop up. Data security is the biggest of them.

Labs sitting on heaps of data might lead to privacy issues. Experts say that while existing laws cover these privacy issues, a separate regulation for consumer genomics is desirable. “The moment a lab takes your sample, it is a contract between the lab and you,” says Lilac’s Dastidar. Any misuse of data is illegal. Both Lilac and Mapmygenome said they anonymise the data at the lab, assigning samples numbers or barcodes. Yet, in the hands of an unscrupulous company, such personal and revealing data is vulnerable to misuse.

Hussain says that genome data is the property of the individual, but can be used with consent. Yet, he calls for a regulatory framework for added safety. For example, if the data points to a violent personality, should the lab inform the authorities?

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Published on July 04, 2021

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