A genome is an organism’s complete set of DNA. It includes all chromosomes, which houses the DNA, and genes. The genome contains the data, which describe the organism completely. The data of the genome holds the blueprint of the organism.
The genome can be understood through the process known as sequencing. Genome sequencing means decoding of the entire DNA present in the human cell.
Objectives of IndiGen Project
The objective is to enable genetic epidemiology (the study of the role of genetic factors in determining health and disease in families and in populations and the interplay of such genetic factors with environmental factors) and develop public health technologies applications using population genome data.
The Relevance of IndiGen Project
A comprehensive Indian genome project is essential to study disease prevalence within individual ethnic populations. Because India has:
- A unique genetic history due to the practice of centuries of endogamy (marrying within the same community) by various communities.
- Around 70 million Indians suffer from rare genetic diseases.
- About 64 out of 1,000 live births in India carry a congenital birth defect. However, the molecular basis of these remains unknown.
- Specific sub-groups, which may show a higher frequency of disease incidence. For instance, the Vysya community in Andhra Pradesh are susceptible to a certain anaesthetics.
The data generated from IndiGen Project can be analysed to:
- Understand the function of various genes,
- Identify genetic mutations
- Explore how the mutations impact gene functions
- Genetic mutations underlie many diseases, including congenital conditions like thalassemia and diseases like cancer.
Thus, decoding or sequencing a person’s DNA can reveal information about that person’s health.
- Clarity on the sampling approach: One of the major challenges of IndiGen project is adequate and representative sampling of the population. The more the number of samples, the better the precision.
- Legal: To avoid litigation, consent of the volunteer/ contributors is essential for the use of any data in creating commercial products-diagnostics or therapeutics
- Privacy: Since the data contains not only genetic information but also medical and sensitive personal information, the contributors must have a say in how much information gets shared with additional partners.
- Sharing of information: Another challenge is about how much information should be shared with donors. The government must ensure only clinically actionable information should be shared where robust scientific proof exists, linking the mutation to a disease.
- Capacity building: The genetic counsellors or clinicians must be trained to determine the best medical treatment in the context of the specific patient. Hence the capacity building to gather, analyse, interpret and communicate the genomic data will determine the success of this project.
The IndiGen project ushers India towards precision medicine, which advances health care in India.
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