Hello Family –
This is a long email, but here is the punchline:
I will make my whole genome public soon. If you have serious concerns, please call me immediately. This isn’t meant to be alarming, I just want to make sure you are all aware. I've talked endlessly about the possibility of this moment for years, so I think you're mostly prepped and maybe even ready to move on to new topics. hehehe
Nonetheless, for anyone who'd like to rehash why I think sharing my genome is important and what it could mean for you, please continue reading!
I joined the Harvard Personal Genome Project (led by George Church) a while back and they finally finished my whole genome. By signing-up, I made a pledge to make my genomic information publicly available. Today I received my full genome (among some of the earliest in the world!) along with a preliminary research report. Now I’m taking the next step and sharing my data publicly.
I’m hoping that you’ll each be able to find time to read this and that we can talk about any questions or concerns. Without further ado…
I. What information would be published?
My entire genome and the accompanying report generated by the Personal Genome Project, which includes my name and some health information that I have added. I’m also a participant in another project called Open Humans, which links my PGP genome data to other research studies and surveys. I’m happy to show this to you any time.
Even with this report in hand, many mysteries remain. For example, the report said nothing about my Popeye calves or my capacity to be amused by my own jokes even when nobody else is laughing.
II. Why does this affect you? (Part A: Genetics)
We've all had 23andMe genetic testing, we have already confirmed our suspicious that we are all in fact related, for better or for worse. Setting aside that time my hair turned curly for a year, the evidence is very strong that we're stuck with each other.
Because of your relationship to me, I share approximately 50% of my genes with each of you. Nieces and nephews to me share a smaller percentage. I've got 25% of each grandparent. This is one way to understand a little bit about each of my grandpas, who I never got a chance to meet in person.
To put it simply, what this means is that any genetic information revealed about me will say something about you. But what? In almost every case, what my genetic information says about me is going to be a probability (for example: genetic variant X is thought to contribute to an 18% increase in lifetime risk of developing Y). And, in almost every case, what it says about you is even more probabilistic (because you are my parent/sibling, you have a 50% chance of having a genetic variant X that is thought to contribute to an 18% increase in lifetime risk of developing some condition). Most genetic information is probabilistic for several reasons, including the fact that many genetic factors remain unidentified or poorly understood. Even more important is the fact that most traits, whether diseases or other characteristics, such as height or high EQ, are influenced by a complex combination of genetics and environment. That means that, most of the time, no matter how much you know about an individual’s genes you won’t be able to predict what traits they will develop with anything resembling certainty. Of course, there are exceptions to everything I just said, such as dreadful and rare diseases like Huntington’s where genetics can be highly deterministic. Luckily nothing like this came up in my report. Since the data in my report is so far mostly benign and/or uncertain, and because we each share only 50% (or 25%) of that genetic information, anything that you might learn about yourself from my experience would be even less certain. But there are exceptions, and I hope that I’ve given you a sense for those as well.
III. Why does this affect you? (Part B: Discrimination and Other Risks)
Although my report data is benign/uncertain now, scientists will learn more about genetics in our lifetime and we could learn something undesirable about me down the line (I’m amazing, I know, it seems unlikely!) So by publishing my genetic information online, it’s possible for other people to access that information and to use it in ways that you might not like. That could include telling you about what my information says (or what they think it says), and what that implies for you and your own genetic information. There are other potential risks to consider as well. This could include your being subjected to negative or upsetting comments or attention from friends, colleagues or even complete strangers (“He has bad gene X. He is a total loser! Sad.” or “your daughter/sister has bad gene X. You suck!”) or simply having to spend your time answering questions about my or your genes (“How do you feel about the fact that your family member has bad gene X?”). It’s also possible that somebody could trace my ancestry – and thus yours as well – back to some infamous historical figures. I feel like dad would have already dug up all the dirt by now, but hey, you never know.
Genetic Discrimination. One particular risk that people tend to worry over is genetic discrimination: the possibility that somebody could use genetic information to deny you some type of benefit or opportunity. A few words about this: it is now illegal for employers or health care insurers to discriminate against you, me or anybody on the basis of our genetic information. That’s a recent legal development and a very good thing. However, it’s not perfect protection.
The Affordable Care Act, i.e. Obamacare, extended this protection by making it illegal for health insurers to discriminate based on pre-existing conditions, including genetic diseases. In other words, health insurers are not currently allowed to look at my genome and refuse to provide me (or you, or anyone!) with a health insurance policy, or only offer a policy to me at some insanely expensive premium. This is very good for us and for society; we should be ready to fight vigorously any rollback of this protection in the United States.
Genetic discrimination will always pose at least some risk for several reasons. First, just because something is illegal there’s no guarantee that somebody won’t break the law and, what’s more, there’s no guarantee that they’ll be caught or stopped if they do. Also, the new federal law that prohibits genetic discrimination (it’s called the Genetic Information Nondiscrimination Act, or GINA) doesn’t cover every kind of insurance. For instance, disability insurance and long-term care insurance (which is something you might want if, for instance, you found out you carried – or might carry – the gene for Huntington’s) are not covered by GINA, although discrimination on the basis of genetic information may still be illegal under other federal or state laws. As a practical matter, however, the risk of discrimination to any of you is much lower than the risk is to me. And from all estimates (as well is in my opinion), the risk to me is very small to begin with. As stated before, sometimes laws change and that is a real possibility.
Unknown Risks. It’s difficult to say with any confidence how likely it is that any of these risks will materialize. What’s more, it’s my opinion that the most important category of risk in all of this is what we can think of as “unknown risks.” Here is how the PGP’s informed consent form puts this problem:
"Your DNA sequence data, trait data and other information related to you that is made publicly available by the PGP, while directly associated only with you, may also have relevance to your family members. Although in many instances any conclusions that may be inferred from your publicly available information may be speculative with respect to you, and even less predictive with respect to your family members, the complete set and magnitude of the risks that the public availability of this information poses to you and your relatives is not known at this time. You are strongly encouraged to discuss this study and its potential risks with your immediate family members." (emphasis added)
The act of publishing identifiable genetic information for public consumption is still a new exercise. Although I'm certainly not the first to undertake this, there also aren’t many public genomes or even partial genomes out there at this point. In the end, this is all so new that the long-term consequences of making genetic information publicly available are not well understood at this point. As a result, there’s simply no way for any of us to list or evaluate all of the risks associated with this decision. Just as with every decision in life, we need to do the best that we can with the available information. An important issue that I didn’t mention above is that this decision may have consequences for my daughters. We have talked about this at length, especially because we both plan to go public, but ultimately feel the benefits outweigh the costs. Leading to my next point...
Why am I doing this? So why am I even considering doing something that poses risks – both known and unknown – to me and the members of my family, both present and future?
As mentioned, I have come to conclude that the rewards simply outweigh the risks.
And I am willing to assume the risks of participation – and I am asking you to assume a share of those risks as well – because I believe in the importance of scientific research to societal progress. And I believe that neither can succeed without some degree of sacrifice and risk-taking by people like me.
I am not a scientist, but I am fortunate to have the opportunity to participate in important scientific and societal research that, although it may not benefit any of us directly, has the long-term potential to improve the lives of many. There are countless people and professions – from the Marine Corps to Doctors without Borders, and so many individuals and occupations in between – that undertake great personal risk in an attempt to improve the world around them. It is abundantly clear to me that the risks of participating in the Personal Genome Project or other similar projects are trivial by comparison. And this is how I come to see my participation in research, as a duty, as something small that I can do to have a big impact, and somewhat surprisingly - because of how nerdy the whole thing is - a fun hobby!
I hope this explains my decision and that, if and when you have questions, you feel comfortable to ask.
Love always, Jason