HUMAN GENOME SEQUENCING

Posted 15 Apr 2024

4 min read

Department of Biotechnology (DBT) announced the completion of GenomeIndia project.

Launched: by DBT under Ministry of Science and Technology (2020).
- India had announced its first complete human genome in 2009.
Aim: To collect 10,000 genetic samples from citizens across India and create a Reference Genome for Indian Population.
- Human genome reference sequence is an accepted representation of the human genome sequence, made up of a combination of several people’s DNA.
About the mission:
- Comprises researchers from 20 national institutes led by Centre for Brain Research Bengaluru.
- Datasets generated will be stored at Indian Biological Data Centre in Faridabad.
- It was inspired by the Human Genome Project (HGP), the First international research effort to determine entire human genome DNA sequence.
  - HGP was launched in 1990, completed in 2003 and covered ~92% of total human genome sequence.
  - It was led by the 'International Human Genome Sequencing Consortium' which involved scientists from 20 institutions in six countries: France, Germany, Japan, China, the UK and the US.
- It will create a database representative of India’s diverse population, in addition to the other benefits offered by genome sequencing.

IndiGen programme: It took whole genome sequencing of thousands of individuals representing diverse ethnic groups from India.
- It was funded by the Council for Scientific and Industrial Research (CSIR).
Global Alliance for Genomics and Health (GA4GH): Formed in 2013, it is a not-for-profit alliance that sets standards to expand genomic data use within a human rights framework.

The genome is a complete set of genes of an organism and includes all the chromosomes, which house the DNA and genes.
- A gene is a basic unit of heredity made up of a sequence of nucleotides in DNA or RNA.
Genome sequencing means determining the exact order of base pairs in a strand of DNA in an individual.
- DNA molecules are polymers of long chains of nucleotides, which are sugar molecules attached to a phosphate group and a nitrogen-containing base.
- DNA bases are Adenine (A), Cytosine (C), Guanine (G), and Thymine (T).
Human genome contains approximately 3.2 billion nucleotides and 23,500 genes.

Enable treatments for genetic diseases: Genome sequencing is useful in-
- Prenatal screening to identify genetic disorders in foetuses.
- Liquid biopsies to diagnose cancer early.
- Pharmacogenetics- study of how genes affect a person's response to drugs to prevent adverse drug reactions.
Development of Predictive diagnostics and personalized healthcare: Through customised drugs and gene therapies based on genome sequencing.
Facilitate Advanced Analytics and Artificial Intelligence integration: To enhance understanding of genetic causative factors and develop disease treatments.

Lack of regulatory framework: It limits quality and proficiency standards and leads to misuse of data.
- Instances of samples from India sequenced and analysed abroad have been observed due to inadequate regulation.
Privacy and data issues: Due to technology involving sensitive information such as personal data, medical history, and family history with diseases.
Fragmentation of genetic data: With data remaining in silos, it prevents its access to public health decision-making.
Ethical issues:
- Inequity and low diversity: Unregulated market forces may create barriers to better healthcare access, especially for the poor and ethnic minorities.
- Discrimination based on genetic information: It may prevent access to health benefits such as insurance.
Technological challenges: Cyber threats, Problems of sample contamination and viable run quality etc.
Other issues:
- Financial constraints in establishing and maintaining sequencing facilities.
- Limited skilled personnel for sequencing facilities.

Establish clear regulations for fair competition and stakeholder trust.
Prioritize genomic research funding and establish centralized sequencing facilities
Develop advanced training programs for researchers at both experimental and computational levels
Improved access of up-to-date genomic data through collaboration with scientific publishers and open access publication models.
Utilize modern sequencing technologies to minimize infrastructure requirements
Follow best practices to curb data misuse and ensure ethical technology use, E.g. Genetic Information Non-discrimination Act in the U.S.A.