|Demand of the question Introduction. Contextual introduction. Body. Discuss significance and potential benefits of human genome sequencing. Mention various challenges. Conclusion. Way forward.|
India’s Genome Project is a government-funded project to sequence more than a thousand individuals from diverse ethnicities to create a genome database for India. The Genome India Project, a collaboration of 20 institutions including the Indian Institute of Science and some IITs, will enable new efficiencies in medicine, agriculture and the life sciences.
Significance and potential benefits of human genome sequencing:
- Healthcare: Participants of genome-sample collections represent diversity of the country’s population. It will help in following ways:
- Personalised Medicine: The first obvious use would be in personalised medicine, anticipating diseases and modulating treatment according to the genome of patients. Several diseases develop through the interplay of the environment with multiple genes, which differ across populations.
- Determining gene-disease link: Human genome sequencing is important to establish a link between diseases and the unique genetic make-up of each individual. For instance, cardiovascular disease generally leads to heart attacks in South Asians. If such propensities can be mapped to variations across genomes, it is believed public health interventions can be targeted better.
- Better understanding of diseases like 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.
- Drug efficacy: Another advantage of genome sequencing is that information regarding drug efficacy or adverse effects of drug use can be obtained. Drugs developed in the Western world and sold in India are pricey and may not be effective on the Indian gene. Mapping of India’s genetic landscape is critical for next generation medicine.
- Agricultural usage: It will enhance India’s scientific capabilities.Next step would be genome mapping of crops that would help in better understanding of the genetic basis of susceptibility of crops to blights, rusts and pests. It may become possible to deter them genetically, and reduce dependence on chemicals.
- Evolutionary studies: Global science would also benefit from a mapping project, which would provide data useful for the mapping of the spread and migration of a range of life forms in the old World and thus would help in better understanding of human evolution.
Challenges and issues related to genome sequencing:
- Accuracy: How accurately and reliably genome sequencing measures genome variants is a big challenge.
- Use of genetic information: The role of most of the genes in the human genome is still unknown or incompletely understood. Further, most physicians are not trained in how to interpret genomic data. Therefore, a lot of the information found in a human genome sequence is unusable at present.
- Regulation: 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. India today has only loose regulations for this budding field. The Indian Council of Medical Research, the apex body that regulates clinical trials in India, has no specific guidelines to govern genetic testing laboratories.
- Medical ethics: 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.
- Data and storage: After collection of the sample, anonymity of the data and questions of its possible use and misuse would need to be addressed. Companies have access to sensitive personal information, which could be hacked or sold to third parties without participants’ consent. India is yet to pass a Data Privacy Bill with adequate safeguards. Launching a Genome India Project before the privacy question is settled could give rise to another set of problems.
- Social issues: The question of heredity and racial purity has obsessed civilisations, and more scientific studies of genes and classifying them could reinforce stereotypes and allow for politics and history to acquire a racial twist.
- Training: It is important to train more clinicians for gene data interpretation and rope in more labs for sequencing. Training more physicians to study medical genetics for speedier analysis is needed.
- Data security: Given the sensitivity of genomic data, every effort must be made to minimise the likelihood of data breaches and to maintain public trust in institutions that gather, store and use such data. A practical and feasible solution to build such a reliable and safe database is the application of blockchain technology to secure genomic data.
- Effective policy: There is a need for a comprehensive and effective policy to guide the use of genomic information, with significant emphasis on protecting the privacy of research subjects. One way to make this possible is through ‘dynamic consent’ by which people who wish to participate in a research project can register themselves and provide consent on an ongoing basis.
- Collaborative effort: A collaborative and harmonised efforts is needed to balance sharing of genomic data with an individuals’ privacy. A framework must be designed transparent enough to specify the purpose of the collected genomic data and the duration for which it will be stored in the database.
Given the benefits of genome sequencing, it will help in better understanding of the human body and processes and will help in treating earlier untreatable diseases. Although there are some issues and challenges, these can be handled and resolved.