The Privacy Challenges We All Face With Our Personal Genomes

What does medicine look like in the era of direct-to-consumer genomics? Dr Manuel Corpas of The Genome Analysis Centre, UK, explores how the health paradigm may be about to change.

I bought my first personal DNA testing kit in the summer of 2009 using money that I received as a birthday present. This was just a couple of years after the first direct-to-consumer diagnostic test had ever been sold, a small product that would prove revolutionary; I did not need to be a patient or have a prescription. I only needed to be a consumer willing to spend a few hundred dollars. As the consumer, however, I bore the full responsibility for any result, be it good or bad, that might come out of the test. Half a million genetic markers were tested, measuring my susceptibility to various types of cancer, Parkinson’s disease and other conditions (or even my ability to smell asparagus in my urine). At the time I write this (some 6 years later), any ordinary citizen may be genetically tested in the same way I was, for no other reason than plain curiosity, with not just 1 million markers tested but the whole ~3.3 billion letters that the entire genome (or the totality of the DNA) of a person contains. Hospitals are now getting ready to sequence all patients and the number of people whose genome has been completely sequenced will soon reach a billion (1/7 of the total global population). But what does this new information mean to “normal” citizens? How is this going to change our lives, if at all? I would argue that a new paradigm has emerged, an early indication that a moral storm is brewing, realised by the digital storage and interpretation of personal genomes, as it becomes a reality.

Direct-to-consumer genomic tests introduced several new key elements of the medicine of the future: the individual genetic testing is a) a commodity, allowing consumers to know even more about their own genetic make-up than their doctor, and b) patients become participants, actively contributing to the research processes leading to the generation of further knowledge related to genetic causes and effects. Genetic tests now have the potential of being a consumable product capable of providing people with a new awareness about health in the form of genetic susceptibility risks. Risk predictions may influence not only the way doctors diagnose but even how people relate to each other or live their lives. In a contemporary world like ours where use can be easily transformed into abuse, an important challenge will be to strike a fair balance between the right of the individual to privacy while ensuring valuable genetic data results can be used for further research to aid society in general. For some this entails a system where our right to privacy must be maintained at any cost, while for others, unpermitted access to personal genetic data is justified for the sake of security or profit. To date, huge emphasis has been placed on ensuring that insurance companies, employers and even relatives have restricted access to an individual’s personal genomics data. The problem is that genomic data does not bring with it certainty: two people may have the same DNA yet only one may develop a disease while the other remains healthy. It is a percentage risk, not a certainty after all.

Although we cannot predict the future, we can ask “what if” questions and then take them to their ultimate conclusion in a rational way. Looking at how our personal sensitivity to privacy has evolved, particularly after the advent of Facebook and other social media, it will not be surprising if our perceptions of privacy dramatically change in the future. Let’s hope that these changes in privacy perception happen not as a consequence of inertia but, rather, as a result of personal choice.

Disclaimer: Manuel Corpas’ current or past employers do not endorse any findings, methods or conclusions, directly or indirectly related to his personal genomics work.

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