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Post-Covid rush for genome testing

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

DTP genomics, where a laboratory provides sequencing services (and, if necessary, genetic counseling) directly to the consumer without the intervention of a physician, has been around for a few years.

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

The science is pretty straightforward. Scientists are looking for “single nucleotide polymorphisms” (SNPs) in non-coding genes. SNP is a variation of the position of a single nucleotide in a DNA sequence – say, instead of an Adenine nucleotide, you have the Cytosine nucleotide. SNPs themselves don’t cause a disorder, they just flag them because certain SNPs are associated with certain diseases. An educational article in Nature.com explains it this way: “If certain SNPs are known to be associated with a trait, then scientists can examine stretches of DNA near those SNPs to try to identify the gene (s) responsible for the trait. ”

This is because a genomic test can lead to expert advice on what you should and should not eat, whether you would be a good athlete or a musician, which medications are best for you if you contract a disease, in which part. of the world will trace your ancestry to you, and so on.

Although useful, DTC was not very popular because it was expensive. A complete genome profile could cost up to ₹ 1 lakh; a nutritional counselor and fitness planner, or a health assessment test could cost around ₹ 20,000. However, demand is expected to increase. The Indian market was on the radar of global companies. In January of last year, US company Precise.ly announced a partnership with hospital network Narayana Health to provide next-generation sequencing and “personalized and preventive health care.”

The pandemic has further accentuated this trend. “Due to the current Covid pandemic, people have become more health conscious, potentially leading them to use new and advanced techniques such as 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 and more people are seeking the services of the company after the pandemic. When the first wave was raging, the company opened a lab at Hyderabad airport for Covid-19 testing. Thanks to her, many discovered other genomic testing services.

Companies that previously provided genomic sequencing for areas such as pharmacogenomics (to determine which drug works best against, say, cancer), are now seeing demand for personalized testing.

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

Lower costs

All connoisseurs Quantum respondents were confident that costs would decrease, leading to increased demand for DTC genomics. It’s not just about economies of scale (you can bulk order reagents for less), but also emerging technologies that make mainstream genomics more affordable.

Rakesh Mishra, who until recently was director of the Hyderabad-based Center for Cellular and Molecular Biology, points out that it is now possible to sequence long strands of DNA; earlier it would take 200 or 300 pieces and put them together to get a full view.

Additionally, with more and more people using these services, the database becomes more robust and the algorithm can provide the necessary information even with a smaller sample, explains Mishra. This will further reduce the cost. In addition, with more Indian data, the predictions will be more accurate. Today, the use of global data, available for free or against payment, could generate flawed predictions due to ethnic differences.

Lower costs naturally lead to cheaper services. For example, Mapmygenome’s “Genomepatri” services, which provide “15 reports that help you uncover genetic strengths and vulnerabilities that affect your body’s immune system and disease risk,” cost 7,500 today, versus ₹ 25,000 a few years ago.

Medical and wellness

Under “personalized genomics” there is a distinction between “medical” services (such as cancer prevention and pharmacogenomics) and “wellness” services (nutrition and lifestyle). But the demand for one feeds the other. Acharya says that people who come for health reasons also check their “ancestry” out of curiosity.

However, in the case of disease prevention, the falling cost of genomics to consumers could lead to lower health bills over time. “Consumer genomics has great significance in screening for specific cancer mutations,” says Grace Jaganathan. “For diseases such as diabetes, heart and cancer, identifying gene associations can help develop precision medicine,” she says. She warned, however, that genomic tests should be validated by other medical tests, because “genetic risk does not always mean incidence of disease.”

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

Data issues

So, as consumer genomics becomes affordable and mainstream, a few related issues arise. Data security is the most important of these.

Labs sitting on piles of data can lead to privacy concerns. Experts say that while existing laws cover these privacy issues, separate regulation for consumer genomics is desirable. “As soon as a laboratory takes your sample, it is a contract between the laboratory and you,” explains Dastidar de Lilac. Any misuse of the data is illegal. Lilac and Mapmygenome said they anonymize the data in the lab, assigning sample numbers or barcodes. Yet in the hands of an unscrupulous company, this personal and revealing data is vulnerable to misuse.

Hussain says genomic data is owned by the individual, but can be used with their consent. Yet he calls for a regulatory framework for more security. For example, if the data indicates a violent personality, should the laboratory notify the authorities?

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