Decoding genomics for public health

Decoding genomics for public health

Subject: Science and tech

Section: Biotech

Context:

• Genomics is significantly enhancing our understanding of health and disease genetics, impacting all stages of disease management including aetiology, risk assessment, prevention, diagnosis, and treatment.

Details:

• Genomics has improved the diagnosis rate for rare diseases to 25-35% for previously undiagnosed cases, with technologies like exome sequencing reducing diagnosis time and associated costs.
• Preventive Screening: Technologies like carrier screening and Preimplantation Genetic Testing (PGT) are becoming more accepted for assessing risks of genetic conditions such as anaemia, cystic fibrosis, Fragile X syndrome, and Down syndrome, particularly in contexts like In-Vitro Fertilization (IVF).
• The GenomeAsia 100K project, launched by the Government of India, aims to create a reference genomic database for India’s diverse population, addressing the underrepresentation of Asian populations in global genomic databases.
• Application of Genomic Data:
  • Studies utilizing the GenomeAsia database are already underway, including research on coronary artery disease that uses polygenic risk scores to assess CAD risk in the Indian population.
• Public Health Initiatives:
  • India’s UMMID (Unique Methods of Management and Treatment of Inherited Disorders) initiative promotes genetic screening of pregnant women and newborns for inherited genetic disorders prevalent in the population.
• Effective use of genetic data requires building comprehensive databases that support public health efforts, necessitating collaboration among government, researchers, healthcare providers, industry, and community organizations.
• Ongoing advancements in genomics hold the potential to develop accessible and cost-effective public health initiatives, helping to forge a healthier and more resilient future globally.

GenomeAsia 100k Project:

• The objective of the GenomeAsia 100k project, first announced in 2016, is to sequence the whole genomes of 100k Asians, including 50,000 Indians.
• It is being led out of the National Technological University (NTU), Singapore.
• The project is similar to the projects in the United Kingdom, China, Japan and Australia and the information from this will be used to improve health by designing ‘personalised medicine.’
• The Ministry of Health and Family Welfare and the Department of Biotechnology would be closely associated with the project.

Genome India project:

• The Genome India Project is a gene mapping project sanctioned by the Department of Biotechnology.
• It was launched with the goal of creating a comprehensive database of genetic variations among the Indian population.
• The project aims to sequence the genomes of over 10,000 Indians from different regions of the country and establish a reference genome for the Indian population.

Source: TH BL