We need a baseline dataset for the Indian human genome that should be publicly available: Tony Jose, Cleverg.. – ETHealthWorld

Shahid Akhter, editor, ETHealthworld, spoke to Tony Jose, Co-founder and CEO of Clevergene, to ascertain the roadblocks that still prevent the fast-forward screening of genetic disorders. Genetic Diagnostics: Opportunities & ChallengesToday there are about 7 crore Indians who are living with an undiagnosed genetic disease and about 15 lakh children are born every year with some genetic defect. However, when you look at the number of genetic tests being done, the numbers are just below one lakh, which means there is a huge gap and therefore huge opportunity to offer diagnosis as well as screening tests for genetic disorders.

In the recent past, we have seen an increasing awareness amongst the general population on the incidence of genetic disorders and there is also a pull from the doctors for application of genomics driven diagnosis for their patients. However, one of the challenges that we are seeing at the moment is that the average industry yield or diagnostic yield for these tests are just about 50%. Which means if hundred patients with classical clinical symptoms for a genetic disease take the test, only about 50% are getting clear diagnosis.

This is happening because the current testing methodology as well as the algorithms that are being used for data analysis and reporting work-based on database search. So it's sort of, we generate the data from the patient's DNA and upload that into or compare that with the publicly available mutation database, and if there is a match, we get a diagnosis, and if not, we don't get a diagnosis. And there is also challenge that many of these algorithms are automated only halfway and the last mile reporting has to be done by humans who are trained in Human Genetics.

Another area where we need governmental support is to create guidelines and policies around genetic testing and application of genomics driven test in clinical practice. The rare disease policy of India is a welcoming step towards this which is aimed at spreading the awareness about genetic disorders, building capability for genetic testing as well as giving financial support for patients who have been diagnosed with certain genetic diseases.

Clevergene: Bringing changeClevergene started its journey in genomics in 2013 as a full stack genomics company with expertise in molecular biology, genomics and genomic data analysis. The company has achieved sustenance by offering Discovery Genomics services for discovery of biomarkers genetic disorders and cancer.

So our algorithm is built on the fundamentals of Human Genetics and the inheritance patterns and we have integrated the clinical symptoms, the genomic data that we generate from the patient, the principles of Human Genetics as well as certain knowledge bases into the system. So when we feed a patient data and the clinical symptom, the algorithm calls the mutations or the variations in the DNA and start prioritizing them based on certain parameters that we have set in and throws out the top three, possible mutations and the diagnosis for the patient.

So now the only thing that a clinical interpreter has to do is to look at this last report that comes out, verify and pick the most possible diagnosis and generate the report. This approach has helped us in scaling up the diagnosis to an extent that instead of having an army of clinical interpreters, we only have a handful of specialized clinical Human geneticists who look at the results and create the reports.

We have been offering this test for the last one year through our brand called the Gene Lab, and we've been seeing more than 90% diagnostic yield for the patients who we have tested. Moving forward we are developing assays around genetic screening so our first few tests that would be launching into the market would include genetic carrier screening which looks at almost 2500 autosomal recessive and late onset autosomal dominant disorders. This helps prospective couples to see their carrier status for genetic disorders and the chance of them having offspring with a genetic disease.

The next test that we have developed is the non-invasive prenatal test which we have developed in house which looks at the chromosomal aberrations in a fetus and the chance of the fetus having a genetic disorder.

We are also developing tests around cancer because cancer is another area where in genomics can create an impact. We currently offer tests that are for both for prediction of hereditary cancers as well as precision medicine in cancer.

Clevergenes road map for success is Discovery, Diagnosis, Screening and Cure.

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We need a baseline dataset for the Indian human genome that should be publicly available: Tony Jose, Cleverg.. - ETHealthWorld