[Answered] What do you understand by the term ‘genome sequencing’? Discuss its Importance and associated challenges wrt genome sequencing in India.

Genome sequencing is process of figuring out the order of DNA nucleotides, or bases, in a genome that make up an organism’s DNA. The human genome is made up of over 3 billion of these genetic letters.

Significance of human genome sequencing:

1. Determining gene-disease link: Human genome sequencing is important to establish link between certain disease and the unique genetic make-up of each individual. Genomic sequencing can provide information on genetic variants that can lead to disease or can increase the risk of disease development, even in asymptomatic people.
2. Better understanding of cancer: While genes may render some insensitive to certain drugs, genome sequencing has shown that cancer too can be understood from the viewpoint of genetics, rather than being seen as a disease of certain organs.
3. Mapping population diversity: Participants of genome-sample collections represent diversity of the country’s population.
4. Better diagnostic and treatment: The primary purpose of sequencing one’s genome is to obtain information of medical value for future care. For people experiencing a health-impacting condition, DNA sequencing can provide a precise diagnosis which might affect the medical management of symptoms, or provide treatment options.
5. Drug efficacy: Another advantage of genome sequencing is that information regarding drug efficacy or adverse effects of drug use can be obtained. The relationship between drugs and the genome is called pharmacogenomics.

Challenges and issues related to genome sequencing:

1. How accurately and reliably genome sequencing measures genome variants is a big challenge.
2. The role of most of the genes in the human genome is still unknown or incompletely understood. Therefore, a lot of the “information” found in a human genome sequence is unusable at present.
3. Most physicians are not trained in how to interpret genomic data.
4. An individual’s genome may contain information that they DON’T want to know. For example, a patient has genome sequencing performed to determine the most effective treatment plan for high cholesterol. In the process, researchers discover an unrelated allele that assures a terminal disease with no effective treatment.
5. The volume of information contained in a genome sequence is vast. Policies and security measures to maintain the privacy and safety of this information are still new.
6. The introduction of whole genome sequencing may have ethical implications. Genetic testing has potential downsides such as genetic discrimination, loss of anonymity, and psychological impacts.

Given the benefits of genome sequencing, it will help in better understanding of human body and processes and will help in treating earlier untreatable diseases. Although there are some issues and challenges but these can be handled and resolved. CSIR (Council of Scientific and Industrial Research) plans to undertake genome sequencing to determine unique genetic traits, susceptibility (and resilience) to disease which will help Indian citizens.