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The Future of Genomics in India – ETHealthWorld

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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5 highlights at first Genomics and Precision Medicine Expo – Labiotech.eu

Genomics and Precision Medicine Expo taking place on May 23 and 24 2023 at ExCeL London has announced its top 5 highlights for this years inaugural conference.

The event, which is being run in partnership with Genomics England, will explore the latest advancements and developments in genome sequencing and genomic testing, and the immediate and future potential for the development of precision medicine within the NHS and beyond.

Content throughout the two days will cover topics including discovery, research, development, and regulatory assessment, through to delivery, supply and patient referral.

Lucy Clarke, event manager of Genomics and Precision Medicine Expo, said: The event is a unique chance to discover critical updates, gain practical learnings that you can apply to your own work, and share insights with like-minded peers across patient care and science. With the UK being a key world leader in genomics testing and life sciences, there is a wealth of knowledge to be shared at the Genomics and Precision Medicine Expo.

The first day includes a session on precision cancer medicine: progress, limitations and opportunities. Precision medicine is the desire to tailor each persons treatment according to the underlying biology of their disease.

Also on the first day, a talk in the afternoon will examine implementing whole genome sequencing into routine clinical practice. All children in the U.K. with cancer are eligible for somatic and germline whole genome sequencing (WGS) via the NHS Genomic Medicine Service. Jack Bartram, a consultant pediatric hematologist at Great Ormond Street Hospital for Children (GOSH), will describe experiences of using WGS for hematological malignancies to obtain, analyze and clinically integrate results in a meaningful timeframe.

Another highlight is a panel discussion on navigating patient consent in cancer genomics. The use of genomic testing in routine care brings benefits for patient care and treatment, but it can also present new challenges for clinicians around consent. In this panel session involving representatives from Genomics England and The Royal Marsden NHS Foundation Trust, guests will explore different scenarios and approaches to consenting cancer patients for genomic testing.

On the second day, an afternoon presentation will look at the role of nurses in transforming genomic healthcare. The application of genomics in everyday practice is now a reality in cancer care and in rare diseases. Tootie Bueser, director for nursing & midwifery and chief nurse Southeast Genomic Medicine Service Alliance and North Thames Genomic Medicine Service Alliance will explore how nurses have an important role in transforming care through genomics and need access to education, training and other resources to maximize this opportunity.

The final highlight is a session on pharmacogenomics, hosted by Nisha Shaunak, associate chief pharmacist Cancer, TRU and Surgery Clinical Group, Guys & St Thomas NHS Foundation Trust.

Co-located with the Oncology Professional Care, Genomics and Precision Medicine Expo, the event is free to attend for registered healthcare professionals and individuals working in the field of genomics and precision medicine (excluding commercial companies) and is fully CPD accredited.

The co-located events feature 150+ sessions across seven focused theaters with product and service providers showcasing the latest innovations on the exhibition floor.

Genomics and Precision Medicine Expo intends to capture the interest of Public Health and ICS leaders, CCIOs within the NHS and private sector, clinicians working in acute and primary care who wish to develop their knowledge and understanding of the fast-moving developments in this sector, and clinical and biomedical scientists.Attendance is free for UK healthcare professionals and individuals working in the fields of genomics and precision medicine (in non-commercial roles). Register here: genomicsprecisionmedicine.co.uk

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Pharmacogenomics | National Institutes of Health (NIH)

In the 1970s, NIH research gave us genetic engineering and launched what is today the $100 billion biotechnology industry, a major source of high-paying U.S. jobs. Virtually every biomedical research lab and pharmaceutical company uses the power of the genomic revolution every day to demystify diseases and search for new cures. Companies today can read the entire DNA sequence of an individual for less than $1,000, and the cost is dropping quickly. This ability to study massive amounts of DNA has helped the field of pharmacogenomics mature rapidly. In this area of science, researchers match DNA patterns in individuals with how they respond to medications. The goal is to move away from one-size-fits-all dosing because we now know that many factors aside from sex, age, and body size influence how our bodies react, ordont, to many drugs. Research results in this important area of biomedicine have prompted FDA to include pharmacogenomic information in drug labeling, toward more precise and safer drug responses for patients. A significant goal of precision medicine is to implement this strategy broadly in medical care focusing on the right drug at the right dose at the right time for the right patient.

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This page last reviewed on February 28, 2023

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Molecular Diagnostics Market is estimated to be US$ 45.30 billion by 2030 with a CAGR of 11.5% – By PMI – EIN News

Molecular Diagnostics Market is estimated to be US$ 45.30 billion by 2030 with a CAGR of 11.5% - By PMI  EIN News

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Molecular Diagnostics Market is estimated to be US$ 45.30 billion by 2030 with a CAGR of 11.5% - By PMI - EIN News

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Pharmacogenomics – National Institute of General Medical …

How is pharmacogenomics affecting medical treatment?

Currently, doctors prescribe drugs based mostly on factors such as a patients age, weight, sex, and liver and kidney function. For a few drugs, researchers have identified gene variants that affect how people respond. In these cases, doctors can select the best medication and dose for each patient.

Additionally, learning how patients respond to medications helps to discern the different forms of their diseases.

For many years, NIH-funded scientists, through the Pharmacogenomics Research Network (PGRN), have studied the effect of genes on medications relevant to a wide range of conditions, including asthma, depression, cancer, and heart disease. The research findings are collected in an online resource called PharmGKB. In addition, the Clinical Pharmacogenetics Implementation Consortium (CPIC) was started as a shared partnership between the PGRN and PharmGKB to help lower the barrier to clinical use of pharmacogenetic tests. CPIC creates, curates, and posts freely available, peer-reviewed, evidence-based, updatable, and detailed gene/drug clinical practice guidelines. Another NIH-funded project, the Clinical Genome Resource, aims to define the clinical relevance of genes and variants for use in precision medicine and research.

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Pharmacogenomics – Genome.gov

Understanding pharmacogenomics would not be possible without sequencing the genomes of many people and comparing them, and then comparing their response to medicines. But we have also learned that a person's genome sequence is not everything when it comes to medication responses. The human body is a very complicated machine, and the instructions written in our DNA are just part of the process.

There are some cases, as with the breast cancer treatment tamoxifen, where a small study showed that there might be a relationship between someone's response to the medicine and a variant in theCYP2D6gene. However, this finding did not appear to be true in a larger study that involved many more people. That's why at this time, the U.S. Food and Drug Administration (FDA) labeling for tamoxifen does not recommendCYP2D6pharmacogenomic testing, butthe issue is still being reviewedas more research is conducted.

Another gene in the sameCYPfamily, calledCYP2C19, has variations which affect how your body can useclopidogrel(more commonly known as Plavix). This medication is a "blood thinner" which helps prevent blood clots, and thus reduces your risk of strokes or some heart attacks. If yourCYP2C19protein is not working properly due to a mutation in the gene, then you will not be able toprocess clopidogrel, and you need either a different dose or a different medication. As it turns out, these variants inCYP2C19are also more common in those with Asian ancestry. Although testing for variants in this gene is also not routinely recommended, you may wish to speak with your healthcare provider about the test if you are given a prescription for clopidogrel, particularly if you have East Asian family members.

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