Human Genome Cataloguing Project – Dawn of the New Era

The human genome project was first launched in the 1990s with the aim of sequencing the entire human genome. A genome is the entire genetic material of an organism. It contains all the information needed to build and maintain that organism.

By sequencing the genome, researchers can discover the functions of genes and identify which of them are critical for life. The entire sequence published so far has revealed that there are about 20,500 human genes. This sequencing has found its application in many fields including molecular medicine and human evolution. Various new treatment options can be explored by sequencing the genome of viruses. Targeted therapy can be adapted for cancer treatment by identifying mutations related to different types of cancer.

Several countries have embarked on mapping the genetic mark up of their own population to better understand disease profiles. These countries include: USA, UK, China, Japan, Australia, France, Dubai, Netherlands, Finland, Germany, Turkey, Estonia, Singapore and Saudi Arabia. Indians have also participated as a community in the genome initiatives of these countries. The UK undertook the sequencing of 100,000 whole genomes of patients suffering from cancer and rare diseases and later the project was extended to 1 million.

Genome India

The Department of Biotechnology (DBT) has sanctioned the project, ‘Cataloguing the Genetic Variation in Indians’ for a period of 3 years to 20 institutions from varied disciplines across the country. Under Genome India, the whole genome sequencing has just started and will help researchers get closer to developing effective therapies for treating diseases such as cancer.

In the first phase of the initiative, the genomic data of 10,000 Indians will be catalogued. The information generated can facilitate future human genetics research with greater precision, and to design a genome-wide association array for the Indian population to develop precision healthcare and diagnostics for major diseases at affordable costs.

This is going to be transformational for healthcare because these days disease management is all about data. For new advancements in medical science like predictive diagnosis and precision medicine, genomic information is key and the backbone. The DBT will build on its own experience of genomic cataloguing and rope in 22 partner organisations including public health institutions that have obtained regulatory ethical clearances. 

Across the world, predictive diagnosis and precision medicine based on the genetic makeup of patients are emerging fields in the treatment of diseases such as cancer and other genetic disorders.

The DBT has worked in full swing with establishing diagnostic labs for genetic testing and counselling services and a programme to train clinicians to produce skilled personnel to set up more such labs. In addition, an outreach programme to provide genetic diagnosis and counselling to families affected by common genetic disorders in certain districts has been initiated.

However, there are concerns over the use of genetic data. According to a report, there are clear limits for how far the genomic data and the information derived from it should be used. While genetic engineering, use of genomic data to differentiate groups within society, and predictive insurance tests and targeted marketing are some of the red lines raised, a robust governance framework and consent process in place that makes clear the intended use of data collected are the assurances that the participants were seeking.

The rules and regulations formulated by the Government of India will govern the data security and sharing measures for this project. The personal information of all individuals willing to participate in the study is stripped off from any further records in this project. This process of de-identification ensures that the personal information of the participants is not compromised. In addition, data security and protection is maintained by adhering to strict ethical measures.

In summation

The human genome mapping project is the first time that such a large sample of Indians will be recruited for a detailed study and sought to include representatives from every State and divers ethnicities. The mapping and understanding of the human genome has tremendous applications in understanding not only the genetic origins of the different ethnic groups but would lead to an increased understanding of the genetic disease burden which would help in the development of personalised medicine.