Decoding, Leveraging and Protecting Our DNA in The Age of Personal Genomics

Our Most Personal Data

Dennis Grishin is concerned with the privacy issues of genetic data.  DNA is, after all the most personal data we have.  It contains information that determines your looks, health, personality and ancestry, to name just a few of the variety of human traits that are determined, at least in part, by DNA.  And people in the US are acknowledging the importance of this genetic data by flocking to the companies, like 23andMe, that offer DNA testing and analysis services.  As of 2013, fewer than a million people had purchased a DNA analysis, but that number has increased exponentially to more than 26 million today.

But recent headlines have identified serious privacy concerns with this data – who owns it – who has access to it for what purpose – and how secure is it?  The VERGE reported: Why a DNA data breach is much worse than a credit card leak.   Among the reasons, as Dennis put it, “you can change your PIN, but not your DNA”.  The uniquely personal nature of the data and the need to link it to personal health records including physical and mental traits makes it incredibly valuable and incredibly sensitive.  Your DNA also significantly overlaps with that of your siblings and cousins, and comprises 50% of your child’s.  Do you have their permission to share this data?

DNA testing has been slowing as a result of privacy concerns, even as the cost has gone down and the proven benefits to individuals and society have gone up.  Dennis’ company, Nebula Genomics, is working to solve the privacy concerns by developing cryptographic techniques and business models that can assure that one’s DNA data is protected, secure and used for authorized purposes only.   These are not trivial challenges.

Assuring Privacy

Genomic data can save lives. It helps us understand the causes of human diseases, discover new drugs, and have tighter control in clinical trials. So privacy and control of genomic data by the owner is vital to reaping these benefits without suffering the consequence from unauthorized use.  How do you get the benefits of understanding your genes without revealing the identity of the person involved?  Anonymous genetic testing is one possibility, but without the medical history data connected to it, neither the individual or broader society can realize the benefits.

The approach being pioneered by Nebula is multi-tiered.   Multi-party encryption, with key holders in various locations, can be used to create unbreakable security, protecting data against intrusion from any outside interest or third-party (including, for example, court order).  The encrypted data can then be posted publicly and transparently with blockchain technology, but released only by authorization of the donor in response to a legitimate request from a researcher.   In order to prevent the researcher from retaining or misusing the DNA information for unauthorized purposes, the analysis of the data is done securely on a protected server.  In essence, this “brings algorithms to the genomic data,” rather than letting the data go to the researchers algorithm.

While these measures are feasible, their success will depend on both the confidence of consumers in using them and the willingness of regulators to allow them.  Such willingness may, in the long run, be the biggest challenge.  A wave of governments outlawing encryption could increase privacy concerns, threatening the willingness of people to subject their DNA to analysis.  China, Russia and Turkey have banned end-to-end encryption, and even Australia recently passed legislation requiring platforms to reveal such data, on request from law enforcement.

Dennis concluded: “To drive adoption of personal genome sequencing, we need privacy-focused, personal genomic services that do not take ownership of the generated data and enable controllable, transparent, and secure genomic data sharing.”

Understanding DNA at the Extremes

One of the most active questions engaging genetic researchers, according to Preston Estep, is – what do the extremes look like?  The question of extreme longevity, and the possible factors, both genetic and dietary, that contribute to it, was the topic of his 2016 book, The Mindspan Diet.  Genetic factors for disease have always been one of the highest priorities for researchers. The benefits, and the rewards, for finding the genetic basis of disease and being able to engineer improved treatments or cures for large numbers of people are huge.

Disease focuses on the negative end of the DNA spectrum.  What could we do if we focused on protective genes and the positive side of the spectrum? Shouldn’t we look at exceptional peoples’ DNA to see what might be done to enhance humans?  One man, on a single lungful of air, can dive down to more that 400 feet into the ocean and the return safely to the surface.  Another can accurately memorize the sequence of every card in a deck in 42 seconds.  One woman is alive and alert at 117 years of age.  Wouldn’t we all want to be more like them, or better?

Many beneficial gene variants have been identified within the human population.  PCSK9 is a gene that is better than statins at controlling cholesterol.  The APP gene appears to provide an extra decade of high mental performance. APOE-e2 protects people from Alzheimer’s.  CCR5 successfully fights HIV infection. Unfortunately, most such protective genes appear in less than 1% of the population.  China’s CRISPR twins received the CCR5 gene to resist HIV.  Is it the dawn of a new era of genetically designed people?

The DNA Frontier in Space

In recent years, one of the hottest topics is – what extreme capacities will it take for humans to go into space for extended periods or for potentially permanent settlement.

The medical implications of extended human space travel, for example for a manned space mission to Mars, are grim.  Preston believes any astronauts making the trip to Mars with today’s technology would die from the radiation exposure.  And while mitigating radiation and other risks to individual astronauts is difficult, it is easy compared with the technological advances a permanent base would require.  Radiation is also not the only problem.  Among the other valuable traits for space travel are: metabolic resilience, regulation of internal fluid pressure, resistance to bone and muscle loss, and lower oxygen consumption as well as mental traits for handling isolation, enclosed spaces, problem solving under extreme stress, calmness, long-term thinking, etc.

DNA analysis of extremes may help identify the human specimens most resilient to the stress of space travel, but the real solution may rest with the genetic re-engineering of humans. If you believe, as Preston and many others do, that space travel is inevitable for human thriving and long-term species survival, then we will need to accelerate evolution by engineering Humans 2.0.

The climate crisis shows no sign of being controlled.  Population is increasing.  As we get better at curing disease, people will live longer.  Isn’t it time to consider were to put all these people? And what would happen if an asteroid hit the planet again.  Sending humans to another planet, like Mars, is an obvious (if very difficult) solution.  By optimizing human genes for extremes, it might be possible to create a subspecies of people who are equipped to live on Mars and to survive the trip there. While there are serious ethical challenges to such an effort, it is being given serious attention.  Ting Wu is the Director of Harvard Medical School Consortium for Space Genetics.  George Church has been identifying protective DNA variants.  Christopher Mason has a 10 phase plan to engineer humans for life on Mars. This is just the beginning!  And their effort does dovetail nicely with work being done on the more immediate question of human longevity.

Afterthoughts – Transparency and Consent

The Q&A began with extended exchanges with both Dennis and Preston on the question of DNA privacy. Preston (and several audience members) revealed they were participants in the Harvard Personal Genome Project, or the NIH program “All Of Us,” both of which encourage voluntary participation in DNA testing and genetic research by trustworthy scientific researchers.  Some individuals have taken the additional step of publishing their genome on the Internet – an extreme form of transparency. While this eliminates the concern that one’s DNA or DNA data might be stolen or hacked, and makes research easier, it may expose the individual to significant future risks.

Dennis also admitted that the complex privacy protections he envisioned will depend on cooperative support rather than antagonistic confrontation with governments and regulators. Perhaps more significantly, once an individual’s DNA information has been released, inadvertently, maliciously, or through third party re-sequencing of a tissue sample, the value of all those efforts to protect it will be worthless.

Both Dennis and Preston highlighted the importance, and the challenge, of consent.  The idea that an individual should have a say over how his or her genomic data is used is certainly compelling.  Yet this will become increasingly difficult as gen-tech continues to advance.  Preston talked about the conversations he had to go through with his family before he made the decision to release his DNA data – knowing that this release would be relevant to the privacy of his children and grandchildren, and their children.

As to the question of obtaining consent for engineering Humans 2.0, it’s hard to imagine how one might obtain consent from people who have yet to be born.