by Anand.K

The Human Genome Project is undoubtedly one of the most important and remarkable scientific feats in history and more recently, On March 31, 2022, the Telomere-to-Telomere (T2T) consortium announced that it had filled in the remaining gaps (roughly 8%) and produced the first truly complete human genome sequence. Highly accurate and long-read sequencing had finally removed technology limitations, enabling comprehensive studies of genomic variation across the entire human genome, which we expect to drive future discovery in human genomic health and disease.

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Genomics applications in Rare Disorder Diagnosis Recently, a 19 month old child in the UK received lifesaving gene therapy for a rare disorder called metachromatic leukodystrophy. The ability to understand genomes quickly and inexpensively has led to advances in the diagnosis of rare disorders, thus helping families end their diagnostic odysseys. While rapid advances have been made in rare disorders, there are many disorders that may yet be discovered. Large scale research studies that are population specific would be required to understand the pattern of such diseases. This can provide significant relief to families with members suffering from such disorders, as well as help them understand the risk to future generations. 250+ such disorders have been identified. Through extensive genetic testing, it is possible to accelerate diagnosis and treatment options for patients living with rare diseases. Collaborations between public health organizations and private institutions, along with advocacy for mandatory new-born screening, can aid in reducing the inequalities that exist.

Prenatal testing to identify genetic disorders early in pregnancy Prenatal genetic tests required a pregnant woman to undergo invasive procedures to obtain a fetal DNA sample. Tests like amniocentesis and chorionic villus sampling comes with associated risks to pregnancy. With DNA sequencing, it is now possible to test the pregnant lady's blood for genomic variants in an unborn baby. NIPT (Non Invasive Prenatal Testing) or cell-free fetal DNA testing is now being extensively used to detect Down syndrome. With rapid advances in genomics, it is likely that we may be able to detect other genetic conditions very early.

In 2012, a new technique called CRISPR was invented that borrowed tools from bacteria to effectively edit any DNA in any organism. CRISPR is making it possible to edit genomes cheaper, faster, and more accurately than all previous methods. While CRISPR is now being used to study diseases, advances in this technology can also help in treating diseases. Research is being underway for Sickle Cell Disease and HIV. CRISPR has the potential to change gene therapy, and while it is still in its early stages, this could pave the way for new treatment options for a variety of life-threatening diseases.

The global genomics market size is projected to reach USD 94.65 billion by 2028, exhibiting a CAGR of 19.4% during the forecast period. While India is a land of 1.3 billion genomes and makes up 20% of the worlds population, the DNA sequences of our people only make up about 0.2% of global genetic databases. Therefore, we have a long way to go before we are able to reap the benefits of the genomics revolution at scale.

In the Union Budget 2022, Finance Minister Ms. Nirmala Sitharaman identified genomics as one of the sunrise opportunities and stated that the government will implement supportive policies to boost domestic capacities. Industry-academia collaborations, funding for research, and supportive regulatory and policy frameworks can truly transform how genomics can help healthcare delivery in India.

Anand.K, Chief Executive Officer, SRL Diagnostics

(DISCLAIMER: The views expressed are solely of the author and ETHealthworld does not necessarily subscribe to it. ETHealthworld.com shall not be responsible for any damage caused to any person / organisation directly or indirectly.)

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The Future of Genomics in India - ETHealthWorld