IndiGen is a
research programme funded by the CSIR India and undertaken by CSIR-Institute of
Genomics and Integrative Biology (CSIR-IGIB) and CSIR-Centre for Cellular and
Molecular Biology (CSIR-CCMB) to sequence 1000 genomes in a pilot attempt to
develop technologies and resources for better healthcare
Aswini B | 10 December 2019
In recent years, many countries have initiated programmes which involve sequencing of
multiple individuals in the population, in an attempt to utilise the data for
impacting healthcare decisions. United kingdom’s
100,000 genome project, China’s 100,000 genome project, Saudi Arabia’s Saudi
human genome program are few such projects among the many.
India has now made its mark in genome
sequencing of its citizens through the Council of Scientific and Industrial
Research (CSIR) funded IndiGen program (Genomics for public health in
India).
IndiGen is a pilot study to create a
genomic dataset that has the potential
to enable better identification of genetic diseases
and their epidemiology. Such an effort has
the potential to devise better and affordable carrier screening approaches in
India. The program aims to perform whole-genome sequencing of 1000 healthy
Indian individuals representing diverse ethnic groups. The program was also to
determine how efficient and reliably can we sequence several human genomes in a
defined timeline of 6 months. The CSIR funded study was undertaken by two
institutes of the nation, CSIR-Institute of Genomics and Integrative Biology (CSIR-IGIB) and CSIR-Centre for Cellular and
Molecular Biology (CSIR-CCMB).
Apart from shedding lights on
understanding the genetic diversity of the Indian population, the program also
enables various clinical and biomedical applications. It will help us in
determining major risk factors for various genetic diseases. It will also help
us in determining common variants in the Indian population. This information
will efficiently guide the clinicians in determining the prevalence of genetic
diseases and risk factors associated with it which
could help in counselling patients to take the
necessary and required treatment.
How does IndiGen work?
Towards this program, blood samples
were collected from volunteers across India. The DNA was isolated from the
samples, sequenced and analyzed. The volunteers have been given a personal card
with a unique identification number and a QR code on it. The volunteers and
their details are kept anonymous in the entire process. Once the sequencing is
performed, their genome details will be uploaded into the QR code and the
patients may access it anytime using the IndiGen app. However, they will not be
able to read the files directly. In case of any risk factors associated in
their genome which predispose them to a
treatable or preventable genetic disease or pharmacogenetic trait, they will be suggested to visit a clinician, who can read
the files and explain the risk factors and the problems associated with their
genome and counsel them for required therapy and lifestyle changes to avoid
acquiring particular disorder. IndiGen has also partnered with multiple
industries.
How does IndiGen benefit the public?
By analyzing all the healthy genomes,
a reference genome for the Indian population would
be established. This is India’s first genomic
database. This will now help us in identifying genes involved in diseases whose
causative genetic background is still unknown. It can help in identifying rare
genetic disorders in children, in performing carrier screening for expectant
couples in identifying genetic variation if any and counsel them regarding the
health or diseases risks their child or children may carry, which would help
them be aware and informed of the necessary steps to be taken for further treatment.
The IndiGen program is continuing to
collect samples for genome sequencing. Volunteers, who wish to get your genomes
sequenced, register with us online at the IndiGen website https://indigen.igib.in/