GENOME INDIA PROJECT - SCI & TECH
News: 10,000
Indian genomes to be sequenced by year-end
What's in the news?
● The
Genome India Project, a Centre-backed initiative to sequence 10,000 Indian
human genomes and create a database, is about two-thirds through, said Rajesh
Gokhale, Secretary, Department of Biotechnology (DBT).
Key takeaways:
● India
has sequenced close to 7,000 genomes and 3,000 of these are already available
for public access by researchers.
● The mission expects the
10,000 genomes to be completely sequenced by the end of the year.
● About 20 institutions
across India are involved in the project though
the analysis and coordination is done out of the Centre for Brain Research,
Indian Institute of Science (IISc), Bangalore.
Genetic diversity in India:
● The
Indian population of 1.3 billion consists of over 4,600 population groups, and many of them are endogamous. These
factors have contributed to the genetic diversity of the current population.
● Thus,
the Indian population harbours distinct variations and often many
disease-causing mutations are amplified within some of these groups.
Genome India Project:
● 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.
● It
is a Central Sector Project.
Aim:
● The
GIP aims to collect 10,000 genetic
samples from citizens across India, to build a reference genome.
● The
genome contains all the genetic matter in an organism, i.e., the complete set
of DNAs.
Goal:
● The
goal of the research is to develop
predictive diagnostic indicators for several high-priority diseases and
other uncommon and genetic disorders.
● In
phase 2, the project would collect genetic samples from patients with three broad
categories – cardiovascular diseases, mental illness, and cancer.
● Through
whole-genome sequencing, the plan is to build an exhaustive catalogue of
genetic variations for the Indian population.
Nodal agency:
● Department
of Biotechnology (DBT), Ministry of Science and Technology.
Targeted areas:
● Some
of the priority areas are Precision health, Rare genetic disorders, Mutation
spectrum of genetic and complex diseases in the Indian population, Genetic
Epidemiology of Multifactorial Lifestyle Diseases, and Translational Research.
Significance:
1. Predictive diagnostic markers:
● GIP
will aid our understanding of the nature of diseases affecting the Indian
population, and then ultimately support the development of predictive
diagnostic markers.
● Human
genome sequencing is important to establish a link between diseases and the unique genetic make-up of each
individual.
2. Information on human species:
● 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.
● It
would aid in the designing of
genome-wide association chips which will facilitate further large-scale
genetic studies in a cost-effective manner.
3. Next-Generation personalized medicine:
● It
would also open new vistas for advancing next-generation personalized medicine
in the country, paving the way for predicting health and disease outcomes and
modulating treatment protocols based on
the genome sequences of the patients.
4. Targeted preventive care:
● The
initiative would also support the development of targeted preventive care, as
it has the potential to help identify
those population groups which are more susceptible to various risk factors for
certain diseases.
● For
instance, if a region shows a tendency towards a specific disease, customized
interventions can be made in the region, accordingly, leading to more effective
treatment overall.
5. Precision medicine:
● The
initiative reflects India’s progress in gene therapies and precision medicine,
and its movement towards emerging
next-generation medicine which yields the possibilities for greater
customization, safety, and earlier detection.
Challenges ahead:
1. Privacy issues:
● 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.
● The
Indian Council of Medical Research, the apex body that regulates clinical
trials in India, has no specific
guidelines to govern genetic testing laboratories.
2. Chances of racial discrimination:
● The
question of heredity and racial purity has obsessed civilizations, and more
scientific studies of genes and classifying them could reinforce stereotypes and allow for politics and history to acquire a
racial twist.
3. Ethical issues:
● 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.
4. Misuse of data:
● Companies
have access to sensitive personal information, which could be hacked or sold to
third parties without participant's consent. India is yet to pass a Data Privacy Bill with adequate safeguards.
5. Accuracy:
● How
accurately and reliably genome sequencing measures genome variants is a big
challenge.
WAY FORWARD:
1. 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.
2. Data security:
● Given
the sensitivity of genomic data, every effort must be made to minimize 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.
3. 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.
4. Collaborative effort:
● A
collaborative and harmonized effort is needed to balance sharing of genomic
data with an individual's 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.
Thus,
the Genome India Project reflects India’s
progress in gene therapies and precision medicine, and its movement towards
emerging next-generation medicine which yields the possibilities for greater
customization, safety, and earlier detection.