November 25, 2019 ☼ The Intersection ☼ technology ☼ biology ☼ economics
A national genomic platform can serve as an inclusive health infrastructure and enable future generations to lead much healthier lives.
This is from The Intersection column that appears every other Monday in Mint.
India is sitting on an unprecedented opportunity to rapidly achieve dramatic improvements in health. Recent findings in our genomic history, and the sharply declining costs of genetic testing and analysis, allow us to use these techniques to transform the way public health is delivered in the country. If the government substantially raises its spending on creating the “infrastructure” for genomics-informed precision medicine, we could set in motion a virtuous cycle of private investment in genetic testing, analysis, counselling and therapy. (Full disclosure: A close member of the columnist’s family works for a genetic testing company.)
Earlier this year, the government launched the IndiGen project, under which the full genomes of over 1,000 individuals are sequenced, and the data handed over to the individuals on a smart card. This helps in two ways. First, anonymized genomic data can be used to identify genetic disorders and health risks of the communities the individuals are a part of. And second, the individuals concerned can use their genomic data to assist in diagnoses and medical treatments. While the IndiGen project is a good sign that the government has recognized the promise of precision medicine, it needs to be on an altogether larger scale if India is to be a major player in the precision medicine race.
Shambhavi Naik and Pavan Srinath, my colleagues at the Takshashila Institution, estimate that we should sequence at least one million genomes. If this appears to be a large number, it is because, as Harvard geneticist David Reich says: “India is an extremely large number of small populations.” There are over 5,000 distinct genomic populations across the country, thanks to centuries of endogamy within geographical-linguistic-caste communities. If we sample 200 individuals from each endogamous community to cater to the diversity within its population, we need a million samples. Naik and Srinath propose that “anonymized, sequenced, quality-approved, annotated” genomes be put on a national genome platform, which is available as a public good to researchers, diagnostic labs and clinicians, under robust regulatory safeguards. This would cost the government around ₹8,000 crore.
Genomic information is a public good because it tells individuals what particular health risks they face. For instance, if thalassemia is known to be major risk in a particular community, potential parents can undergo genetic testing for a mutation associated with the disease, and test the embryo for the presence of the mutation. These tests cost parents around ₹30,000 today. This is much lower than the cost of treating thalassemia, which would run into tens of lakhs of rupees. Now, people might be willing to pay for genetic tests, but they should know what to look for. Thalassemia is just one of the scores of diseases that can be tested for. That is why a national genomics platform is necessary to zero in on the major risk factors that the particular individual (or couple) face.
The most well-known success story of using genetic testing for reducing the disease burden is that of the ultra-orthodox Jewish community. Endogamy over centuries increased the prevalence of genetic diseases such as Tay Sachs, until Dor Yeshorim, a community organization, offered premarital genetic screening, helping people make informed decisions while choosing marriage partners and conceiving children. Adapting the idea to India requires building the risk profiles of thousands of genomic populations in our country.
Preventive precision medicine of this kind can help address inequities in how healthcare is financed. The combined government expenditure on healthcare was around 1.4% of India’s gross domestic product (GDP) in 2017-18. Private expenditure is three times as much, which means individuals and families bear an overwhelming share of the costs. By some estimates, as many as 39 million people are pushed into poverty by healthcare expenses. Given such a pattern, making information about potential health risks available, raising awareness and providing counselling services can help reduce the incidence of many diseases.
Thus, there is a good case for the IndiGen project to be upgraded into a “national genome mission”, which supplements the Union government’s investments with the energies of the private sector and the last-mile reach of state governments. For instance, individuals should be allowed to contribute their genome information to the national platform through gatekeeper institutions that can anonymize, validate and annotate the data. State governments could add genomes of populations that they think are vulnerable. The more genomes there are on the platform, the more useful it is for everyone.
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Western and Chinese companies can build proprietary screening and diagnostic tests using samples from overseas Indian communities. Because they also own the intellectual property in terms of the testing equipment and algorithms, they can easily dominate the future market, putting precision medicine out of the reach of most Indians. If the Indian government creates a national genomic platform now, it would serve as inclusive health infrastructure and enable future generations to lead much healthier lives, without having to suffer debilitating financial burdens.
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