Genetic data in India: A debate that needs to happen

Breakthroughs in our command over genetic information have the potential to bring the dawn of an era free of inherited diseases like cancer, or if we let it go that way, a brave new world full of designer babies grown in test tubes.

The twenty-first century is but two decades old, yet the progress witnessed by humanity is nothing short of miraculous. The digital revolution has touched nearly every corner of the globe and brought unprecedented change at a breakneck pace. Access to goods, services and data has been placed at humanity's fingertips. The invention of the smartphone, the advent of the online marketplace, the rise of social networks, and the dawn of Artificial Intelligence have all conspired to create a world unrecognisable to a twentieth century man. The Age of the Atom gave way to the Age of Information, which will in turn give way to an Age of Intelligence.

The focus on all this technological progress drowns out another revolution poised at the precipice. A revolution brewing in labs dealing with something much closer to home. DNA. Technologies like CRISPR-Cas9 may not be as well-known as Siri or Google Assistant, but they have the potential to be equally, if not more disruptive. Breakthroughs in our command over genetic information have the potential to bring the dawn of an era free of inherited diseases like cancer, or if we let it go that way, a brave new world full of designer babies grown in test tubes.

These scenarios may seem far-fetched and very futuristic, but the future has a bad habit of arriving faster than it ought to. There has been vigorous debate and discussion over the implications of research being done in biological laboratories around the world. Some of it has already been commercialised. Other technology remains inside laboratories, waiting for approval and legalisation.

A brief history of recent advances in genetics

Genetics as a field is thought to have started with Gregor Mendel back in the 1860s. However, it captured the imagination of the public when James Watson and Francis Crick published the famous double-helical structure of DNA. A number of advances since have improved our understanding of the molecule and the nature of genetic material. Sanger Sequencing and the Polymerase Chain Reaction (PCR) subsequently allowed us to read DNA like a reel of tape. This opened the door to sequencing, or reading, individual genes to see how they were spelled in the genetic alphabet.

It wasn't very long before the Human Genome Project was founded and the race to sequence human DNA was on. This was a project of some significance, because it would be the first time humanity would have access to its own source code. The roots of many diseases lie in our genes, and the first step to curing them is understanding them. The project started in 1990 and completed in 2003. It forms the basis for many technologies being peddled today.

The world of molecular biology, however, was moving even as the Human Genome Project inched towards completion. Molecular genetics as a field was truly taking off in the 1990s. Scientists discovered that you could take a gene off of one organism, introduce it into the DNA of another, and create a compound that organism wouldn't normally make. Insulin is the most famous example of this research: nearly all the insulin used by diabetic patients is produced by genetic recombination; i.e. the insulin, while genetically human, is mass produced in the yeast S. cerevisiae.

All these technologies became better incrementally over the course of the 21st century. Scientists became more confident in their ability to tweak the genetic code of an organism. Better, more powerful tools for both sequencing and gene manipulation became available. High-throughput Sequencing became available in the last decade, and has massively increased the number of genomes one can sequence at the same time. The difference is night and day: Sanger Sequencing, while still useful for small labs that have to sequence the occasional strand of DNA, is nowhere close to being able to compete with high-throughput methods for commercial purposes. For reference, the human genome project, which took thirteen years to finish using Sanger Sequencing, would take but a few months at most if one were to use modern techniques.

All this has led to the development of a sector called Personalised Medicine. This sector is at a very initial stage right now. The most companies are willing to do is to sequence your genome and let you know whether you're predisposed to any disease by virtue of your DNA. As a side benefit, they also allow you to discover relatives around the world and trace your ancestry.

Certain developments last year have been more controversial. 2018 saw the announcement by a Chinese scientist that he'd managed to edit the genes of twins born in November while they were still in the womb. This was enabled by a technology called CRISPR-Cas9, a method for gene editing which allows pinpoint, precise edits of DNA. Its widespread adoption has the potential to greatly increase the pace of synthetic biology research to the same extent as did high-throughput sequencing. However, reactions to the Chinese scientist's announcement were less admiring than horrified, and the future of such research looks uncertain.

Status around the world

China's legislature responded by announcing a raft of laws restricting research of the type and committing to greater oversight on gene editing for human reproduction. This was keeping in-line with the prevailing ethos on such research: there is a fear that it may be used to create designer babies. Similar laws are in place in other parts of the world. The United States remains vehemently opposed to gene editing in humans and has laws in place to make sure germline editing, i.e gene edits that may be passed down through generations, remains illegal. The EU has passed legislation which bans research which may “result in modifications to the subject’s germline genetic identity.” Many countries criminalise human germline editing and impose both heavy fines and long jail sentences on those who perform such research knowingly.

Britain, on the other hand, has decided to buck the trend. There have been many calls in Britain to allow genetic modification of embryos to remove inherited diseases and a few licenses to do so have been granted. It remains to be seen if this leads to any consequences for any human germline as a whole, but the world is watching British research very carefully.

However, designer babies are still more fiction than fact. A more pertinent problem is that of genetic data and its implications on privacy. Companies like 23andMe use one's genetic data to infer the probability of being susceptible to certain diseases or not. While their privacy policies state their intention to not sell the genetic data of their customers, the danger remains that the data might be stolen, the privacy policy might change, or that the data might be used by the company itself.

Several pages of ink have been spilled on the regulation of genetic data. The United States has a law called "Genetic Information Nondiscrimination Act of 2008", which explicitly makes it illegal for employers to discriminate on the basis of genetic information. It also makes it illegal to even obtain genetic information for an entity covered by this act. 2013 saw the "Health Insurance Portability and Accountability Act" being amended to also cover genetic data. This covers health and insurance organisations, disallowing them from sharing or using genetic data while measuring eligibility and premium amounts.

Other countries have similar laws on their books. The EU defines genetic data to be 'sensitive data', and prevents its sharing or usage. The Council of Europe goes further. According to the Council of Europe Convention on Human Rights and Biomedicine, “tests which are predictive of genetic diseases or which serve either to identify the subject as a carrier of a gene responsible for a disease or to detect a genetic predisposition or susceptibility to a disease may be performed only for health purposes or for scientific research linked to health purposes, and subject to appropriate genetic counselling.”

In addition, the enactment of the General Data Protection Regulation (GDPR) last year has led to further lockdown of the use of genetic data for discrimination. The GDPR sets out certain conditions which have to be fulfilled for an individual to be profiled using his or her genetic data. Unlike the Council of Europe Convention on Human Rights and Biomedicine, which merely proposed recommendations, the GDPR is legally binding on EU member states. While it does lay out exceptions for certain research purposes, its general direction is increasing the safeguards around sensitive data.

China has the 2012 Human Genetic Resources Management Ordinance governing the collection and usage of genetic data for research purposes. However, lax privacy laws have led to cases of private companies sharing genetic data with Chinese Law Enforcement agencies. In addition, it has also been suggested that China is vacuuming genomic data from around the world, particularly the United States, possibly for research purposes. Given the fact that only Chinese companies are allowed to work with genetic data in China and the nexus between companies and the higher echelons of government, understanding the Chinese take on genetic data is more difficult than that of Western Societies.

But what of India?

India has started working on privacy initiatives. More specifically, a general privacy law modelled on the European GDPR is in the works in the light of the judgement for Justice KS Puttaswamy v Union of India (24 August 2017). While most news coverage has focussed on its relevance to the Aadhar scheme, it does have some significance to genetic data. Genetic data, along with one's Aadhar number, has been classified as sensitive personal data, and is subject to more stringent restrictions than other, non-sensitive data.

Unfortunately, the exceptions in the law are worrying. While they have ostensibly been created for Aadhar data processing, it is not completely clear whether law-makers have thought through the implications for genetic data at all. This merely goes on to show that the understanding of this problem and the ensuing debate is at a very early stage in India. With a population of 1.2 billion people and diversity greater than Europe, the Indian population is a rich source of genomes. Protecting the rights of the people to whom that data belongs is paramount, and safeguarding that data from abuse is extremely important.

To wit, one must look at many aspects of the use of genetic data and how they may be regulated. The debates going on in other countries can give us a good start to defining this problem, albeit with the caveat that India has unique problems of her own to contend with as well.

First, the most important consideration is access to the data itself. It is important to make sure that the genetic data of an individual can be accessed by another entity only after due consent has been obtained. Genetic data must be encrypted at rest, and ideally should not be accessible unencrypted to anyone save the person from whom it has been obtained. Considerations of law and order must be kept in mind, but access by law enforcement agencies ought to be governed by courts on a case-by-case basis. Private agencies should not be able to access this data without obtaining informed consent from the person in question.

Second, it is important to make sure that this data is not used for discrimination in employment or in social situations. The most benign case of this is when employers check a potential employee's genetic makeup to make sure that they are healthy enough for a job. Another, less acceptable case would be a potential bridegroom's father checking the genetic makeup of the bride to make sure his grandson or granddaughter match the genetic makeup he is looking for. It would be eugenics on steroids. A third, even less acceptable case would be the use of genetic data to discriminate between castes. Different castes can be identified by their varied genetic fingerprints in the same way as one can identify the origin countries of various European Americans.

Third, the affect of this data on insurance companies will need to be quantified. Since insurance is predicated on the informational imbalance between individuals and insurance companies, access to genetic data has the potential to greatly disrupt this situation. Granting individuals access to this data while withholding it from insurance companies has the potential to give too much power to individuals, while granting access to insurance companies would obliterate any leverage an individual might have in the transaction. A further issue would be differentiating between health and life insurances. Should the same laws be applied to both? Ideally, there would be different laws for different types of insurance, with the provision of nuanced data access for individuals and coarser data access for insurance companies. However, the details for the same would need a good deal of time and study to be worked out.

Fourth, separate laws would need to be formulated to govern access to the genetic information of deceased and unborn individuals. Since deceased individuals do not enjoy the same rights as natural persons, the question of whether their genetic data becomes public domain or not would need to be addressed. If it does, then a certain time period would need to be defined before which it may not be released into the public domain. The law regarding unborn individuals needs to be even stricter, because they have no recourse to the law if their rights are impugned upon. In addition, one should be mindful of the fact that medical techniques might soon progress enough to be able to cure genetic disorders before birth, which would put their genomes in particular danger.

Fifth, the very nature of India's population means that certain challenges we face are unique to us. A lack of education, a lack of understanding of privacy, and a lack of money all combine to create a very potent cocktail of issues. For instance, an unscrupulous businessman might offer money for genetic data to a desperate group of people. Should this be legal? If it is, then what laws would govern this marketplace? Whom does genetic data belong to once it has been sold? Does the original source of the data still have any claim to it?

And finally, genetic data is a great place to begin new research. If there is a single database for it, then it would be wise to let medical researchers use it for research, both on populations as well as for personalised medicine. However, the laws governing medical and research access to this data would need to be very strict and make sure that there is no abuse possible.

Conclusions

The potential of genetics and genomics to disrupt the functioning of society is very large. As we have progressed through the pages of our genes, we have invented many new technologies and discovered many new techniques. It is important for us to understand their implications on society and legislate on them such that human society as a whole does not change fundamentally.

This conversation has already begun in other countries. The United States, the EU, the UK and China have all taken different paths to build a legal structure for dealing with these issues. The US, the UK and the EU have gone in the direction of maximum privacy, while China has a more nuanced take on the problem.

India has begin to think along these lines as well. However, we have a long way to go, for we have problems unique to the makeup of our society. We need to think upon the following points:

• Access to the data needs to be protected

• Access to genetic data ought not to lead to any kind of discrimination by employers or a super-powered form of eugenics

• The rights of insurance companies to the data of the people they insure needs to be debated upon

• The rights to the data of deceased and unborn individuals would need to be defined separately

• India has a very unique environment to create a marketplace of genetic data. Whether this is morally right or not, and if it is, the nature of its governance would need to be hashed out

• Access to genetic data at a population level or at an individual level for purposes of medicine and research would need to be debated and defined

This is merely the beginning of a vast undertaking. Once these questions start to be answered, newer, more oblique problems will start to come out. The discussion needs to start now for us to balance the rights of individuals, companies, the government, and researchers to create a better society for all.