The urgent need for data to make personalised medicine equitable

Subject: S&T

Section: Biotech

Context:

Medical research is biased, meaning some would be helped far more than others by genetically informed personalised medicine; there are problems across the clinical trials, ranging from which questions get asked in the first place, to who participates in trials and who gets their genomes sequenced.

Genome Sequencing

A genome is an organism’s complete set of DNA, including all of its genes.
Genome sequencing is figuring out the order of DNA nucleotides, or bases, in a genome—the order of As, Cs, Gs, and Ts that make up an organism’s DNA.
It is a method of isolating and identifying variable elements within the base-pair sequence of DNA (deoxyribonucleic acid) as it shows high degree of polymorphism (variation) at genetic level.
Polymorphism forms the basis of genome sequencing since DNA from every tissue (such as blood, hair-follicle, skin, bone, saliva, sperm etc.) from an individual show the same degree of polymorphism.

Precision/personalised Medicine

Precision medicine is an emerging approach for disease treatment and prevention that takes into account individual variability in genes, environment, and lifestyle for each person.
Precision medicine, also known as personalized medicine, is a new frontier for healthcare combining genomics, big data analytics, and population health.
This approach will allow doctors and researchers to predict more accurately which treatment and prevention strategies for a particular disease will work in which groups of people.
It is in contrast to a one-size-fits-all approach, in which disease treatment and prevention strategies are developed for the average person, with less consideration for the differences between individuals.

Global efforts towards Genome Sequencing

Human Genome Project
- The Human Genome Project was a significant global scientific endeavour whose primary goal was to create the first sequence of the human genome.
- The Project formally began in 1990 and was completed in 2003, to discover all the estimated 20,000-25,000 human genes and make them accessible for further biological study.

Encyclopedia of DNA Elements (ENCODE) Project
- The Encyclopedia Of DNA Elements (ENCODE) project began in 2003 by the US National Human Genome Research Institute (NHGRI).
- It is an international research effort funded by the National Human Genome Research Institute (NHGRI) that aims to identify all functional elements (FE) in the human genome.
Earth Biogenome Project
- The Earth BioGenome Project (EBP), a biology moonshot, aims to sequence, catalogue, and characterize the genomes of all eukaryotic biodiversity on Earth over a ten-year period.
- The project was officially launched in 2018 and is expected to take approximately ten years to complete.

India’s efforts towards Genome sequencing

IndiGen Programme
- The IndiGen programme launched in 2019 aims to undertake whole genome sequencing of thousands of individuals representing diverse ethnic groups from India.
- The goal is to enable genetic epidemiology and develop public health technology applications using population genome data.
Indian Initiative on Earth Bio-Genome Sequencing
- The project was launched in 2020 and is part of the Earth Biogenome Project. The project will allow for the collection and preservation of endangered and economically significant species.
- The genetic information that has been decoded will also be useful in preventing biopiracy.

Genome India
- Genome India is a national project launched in 2020. It is funded by the Department of Biotechnology, and spearheaded bythe Centre for Brain Research (CBR).
- In the first phase of the study, the project aims to identify genetic variations in 10,000 representative individuals from across India using whole genome sequencing.