Genomic privacy – is it possible?

In the wake of Edward Snowden’s whistle-blowing on the NSA, the public debate over personal security has never been so heated.  The global concerns over privacy filter into all domains and no less in the spotlight is the ever-evolving field of human genome sequencing.

In 2004, the first ever human genome sequence was published; reporting in A’s, T’s, G’s and C’s the twenty or so thousand genes defining what makes a human being.  This was the culmination of the 14 year long Human Genome Project (HGP), costing billions.  Less than 10 years later and we are on the cusp of the ‘£1000’ genome – accomplishing what the HGP did in a matter of days and for a (ridiculous) fraction of the cost.  Although technologies and methods have been refined, the debate over ethics and privacy of genome sequencing has always remained an issue.

Even at conception it was realised that the HGP would bring with it serious social and ethical implications.  In 1988, Thomas Murray – then Director of the Centre for Biomedical Ethics – pushed to have 3% of the budget allocated to dealing with ethical, legal and social issues.  His concerns were with issues of ownership, who would be allowed to use the data, the accuracy of the information and how to control access to the data.

In 2010, these sentiments were echoed again when the ‘UK10K’ project was launched by the Sanger Institute.  This project aimed to sequence 10,000 genomes of patients with specific diseases to build a database for global genetic research.  The ethics report behind UK10K leaned heavily on data access, ownership and how to communicate the findings.  This year, to celebrate the 65th anniversary of the NHS, the Government announced an ambitious project to sequence 100,000 genomes as part of Genomics England.  Again, the same ethical and social considerations have been thrown into light.

But is there any basis for these concerns?  Advocates would argue that genome sequencing will lead the way for discovery of the genetic basis of complex diseases, allowing new treatments or even cures to be developed.  The main ethical consideration can be summed up in a quote by Professor of Philosophy and Ethics Carol Tauer – “the notion that our genes are the program that determines who we are, and that when we know all the genes we will know the human being, both generically and individually”.

We can see evidence of this as recently as March 2013 when German scientists published the genome of the common laboratory cell line, HeLa.  More personally, they published the genome of Henrietta Lacks, the women whom the HeLa cell line was originally obtained.  Henrietta died in 1951 but the release of her genome into the public domain still sparked international controversy.  The descendants of Henrietta were never consulted before release of the genome which raised concerns over whether there was any consent given.  Henrietta’s genome was quickly retracted and remains private while the ethical debate continues.

Henrietta’s family have right to be concerned – after all, information derived from her genetic code could provide sensitive data on her descendants.  As such, many people have concerns that the misuse of genome data could potentially lead to an individual being identified and provide an avenue towards ‘biological spying’.

But how easy is it to identify someone from their genome?  One man put it to the test.  Yaniv Erlich, a computational biologist from the Whitehead Institute for Biomedical Research, published a report in 2013 exposing the vulnerabilities in databases holding sensitive genomic information on individuals.  Yaniv had the idea that by using short tandem repeats (STRs), or the portions of DNA used to identify individuals, he could hunt through public genealogy databases and find a name.  He tried it out on a full genome that was published in 2007.  Using the STR profile of the Y chromosome Yaniv scoured a genealogy database and found a few likely candidates.  Digging a little deeper he discovered one name which matched the location and age of the donor listed in the genome publication.  It belonged to J. Craig Venter – the genomics pioneer who was publicly known to be the owner of that particular genome.

This was merely a proof of concept for Yaniv and he used Venters genome as it wouldn’t raise any ethical concerns seeing as the information was already public knowledge.  Yaniv moved on and tested his method against anonymous donors with disturbing results.  His team managed to identify nearly 50 people from apparently ‘anonymous’ DNA donors.

So as the genomics era soldiers on we are continually met with the same concerns that were there at the birth of whole genome sequencing.  It will always be a struggle to maintain a balance between ethics and scientific advancement, particularly when it involves information as personal as your genetic code.  With increasing technical capabilities and the exponential growth of personal data available freely on the web – security, privacy and anonymity may never be guaranteed for those promised it.

It seems obvious that better safeguards need to be offered so people can feel more comfortable with supplying genetic information.  But how we go about it is a complex issue spanning science, ethics, policy and law.  What we should aim to emphasis is that the privacy issues should never retract the importance of whole genome sequencing to medical research.  Genetic studies such as the Cancer Genome Project at the Sanger Institute have revolutionised our understanding of cancer and led to the development of successful treatments.

In an attempt to expose the exploitation of personal information by the US Government, Edward Snowden has ignited a revolution in digital privacy, a move that may cost him his freedom.  Let’s hope that something so drastic doesn’t have to happen in the future in order to protect the one thing that makes us truly individual – our genome.


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