Genome sequencing and regulations

note - this article is taken from the hindu , and this is for only education purpose . this article does not brake copyright rules and for any type of complaint contact me -  Ranjeet jhariya  Maroda sector ,14 A , D - pocket , Bhilai , Chhattisgarh 490001 8962506216  

The last two decades have seen unprecedented advances in genomics. 

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The population-scale genome programmes currently under way in many large and small countries encompassing millions of genomes would form the foundation and fuel this paradigm shift. 

This throws open unprecedented new opportunities, as well as significant new challenges.

India has not been too far behind in human genomics

 with the announcement of the first genome sequencing in 2009, 1,000 genomes in 2019 and recently concluded 10,000 genomes last week. 

These efforts undoubtedly have contributed to significant insights into diseases in the population, estimates of the prevalence of many conditions, and more importantly serving as baseline data for decision making, apart from its utility in accelerating research.

क्या इंश्योर करना है ?

1 We should  ensure that the benefits of genomics are not lost out to our people.

2 , to match similar efforts across the world, a well-thought-through legal and policy framework and wider and integral participation of industry is essential to accelerate this in India.

3  Many countries have been proactive in formulating legal and policy frameworks to ensure the benefits of the technology are widely accessible while also accelerating research and development.

Equity and diversity

Data protection

1 It is one of the important components that urgently require a legal framework.

2 Whilethe Health Ministry Steering committee clearances are required for research collaborations,the Director General of Foreign Trade notification enables samples to cross borders for commercial purposes. 

3 This has been widely exploited by large pharma and research organisations abroad to perform research on Indian samples.

4 Despite significant established capacity and expertise in India, a significant number of samples from India are sequenced and/or analysed by companies abroad with little oversight and regulation.

Another issue is the fragmentation of genetic data

with a number of organisations providing genetic testing services, the data remain in silos. 

Well, aggregated summary data of these tests and results could provide key evidence for public health decision making.

 For example, summary data of variants and prevalence of variants reported from labs, without personal/ identifiable information could enable rough estimates of population-level prevalence of diseases and enable the development of cheaper genetic tests. 

Without a framework for collecting summary information, the data remains inaccessible for public health decision-making.

Discrimination based on genetic information 

is indeed a real concern due to the lack of laws preventing it.

For example, a positive genetic test could potentially prevent one from accessing insurance or reimbursement, if the insurance claims it as a pre-existing condition.

 In fact, family members or even communities could also be discriminated against, given shared genetic variants and prevalence.

The U.S. formulated the Genetic Information Nondiscrimination Act in 2008 which prevents discrimination based on genetic information.

Equity and diversity in genetic data also is a concern

that needs to be addressed especially in a diverse country like India, as unregulated market forces could widen the already acute barriers to access to better healthcare, especially for the poor and ethnic minorities. 

Lack of equity could result in less research, less insights/ evidence for clinical decision making and eventually exclusion of such groups from access to the benefits of genomic technologies.

Ensuring ethical use of the technology

is paramount to both advance it and ensure that people benefit from the use, while also being protected from misuse.

Evidence-based use of genomics and mechanisms

to ensure the quality and validity of genomic tests is therefore key.

 In many countries, professional bodies have come forward to be the vanguards, putting together guidelines, policies and frameworks for fair use. Similar efforts supported by legal provisions are needed in India.

For a better future

. Effective regulations ensure a fair playing field.

Clear policies foster trust among stakeholders, encouraging collaboration and innovation in this rapidly evolving field.

By emphasising ethical principles and aligning policies with societal needs, human genomics research can realise its full potential in advancing healthcare, improving outcomes, and enhancing the quality of life. 

With proper oversight, genomic research can revolutionise healthcare, offering personalised treatments, disease prevention strategies, and diagnostic tools.

India has the potential to be a leader by enabling genomics for the masses, at an unprecedented scale opening up unprecedented opportunities and heralding a better and healthierfuture for its people, but only if it puts the best foot forward.

Source the hindu