Genomes Go Public

Scientific studies into human diseases or conditions rely heavily on volunteer participation and one of the usual prices for said participation is anonymity. In the past, anonymity has been fairly easy to guarantee. It's very hard to connect "Subject A, with weird disease X" to Bob Smith because, even if weird disease X is very rare, there are likely hundreds or thousands of people with disease X. Since only details relevant to the study are collected, there simply aren't enough identifying features of Subject A to definitively figure out his identity.

This simply isn't the case in genomics. By definition, genomics is the study of genomes. By studying someone's whole genome, we can elucidate the potential connection between the disease of interest and a person's genes, as well as identifying mitigating factors which can affect not only the course of the disease but also factors affecting treatment. The problem is that a person's genome is fairly unique. While Bob will still likely have functional anonymity, as it is unlikely that someone will go to the trouble to obtain an uncontaminated DNA sample and run expensive tests to connect him to the elusive Subject A, he does not have actual anonymity. Researchers must struggle with how to protect Bob's personal information while at the same time advancing their research. This raises new ethical dilemmas when you realize that one of the methods of advancing research is to share data between collaborating labs - but Bob may never interact with researchers beyond the first lab with which he was associated and may not be aware of how his information is spread.

There's actually a lot of thought and action taken on this, so please don't assume that personal information is being thrown haphazardly about in the wild scientific frontier. I bring it up to provide a bit of background on a novel solution to the problem, in which the guarantee of anonymity is abandoned altogether. The Personal Genome Project is project where volunteers can essentially donate their genomes to research. As it says on their frontpage:

We believe individuals from the general public have a vital role to play in making personal genomes useful. We are recruiting volunteers who are willing to share their genome sequence and many types of personal information with the research community and the general public, so that together we will be better able to advance our understanding of genetic and environmental contributions to human traits and to improve our ability to diagnose, treat, and prevent illness.

Scroll down to the bottom of the frontpage and you'll notice a CC0 universal waiver logo. In essence, the Personal Genome Project is making its research data as close to the public domain as it legally can. If you want, you can take a look at the first ten participants, called the PGP-10, and get not only bios but pictures. Ever wanted to know George Church's health history? There it is. Or how about Steven Pinker? Here you go.

As I understand it, becoming a part of the Personal Genome Project isn't as simple as sending a random tissue sample. There's a rather exacting consent process which requires, among other things, an entrance exam on which you must get 100% so they can be sure that you fully understand what you're getting into.

I suppose that, given the increasing prevalence of information sharing, I shouldn't be surprised that someone would try a genome project with the express purpose of making data public. It's an exciting prospect, but it's also kind of scary. Do you think it's a good idea? Would you participate? Would you encourage others to participate? What pitfalls do you think might occur? I'd love your comments!

"Gay Genes" Aren't Enough

On November 3, 2009, the voters of Maine vote to see if they will uphold the law which allows same-sex couples to get married. Back in April, an 86-year-old WWII veteran named Philip Spooner made a speech to Maine's Judiciary Committee supporting gay marriage; recently, the video of his speech has been rushing through the internet (here it is if you haven't seen it yet). To quote the part that got a standing ovation:

I am here today because of a conversation I had last June when I was voting. A woman at my polling place asked me, "Do you believe in equal, equality for gay and lesbian people?" I was pretty surprised to be asked a question like that. It made no sense to me. Finally I asked her, "What do you think our boys fought for at Omaha Beach?" I haven't seen much, so much blood and guts, so much suffering, much sacrifice. For what? For freedom and equality. These are the values that give America a great nation, one worth dying for.

This is a plea for the rights of homosexuals on the grounds of freedom, equality and human decency. In my mind, this is the right way to do it. The wrong way to do it is to make the case that homosexuality is a biological phenomenon.

The reasoning looks like this:

1. Homosexuality is not a choice but determined by biological factors (genes).
2. If homosexuality is determined by genes, then a person cannot be held accountable for his or her desires. This is especially true since nothing can be done about the desires.
3. As a natural and immutable phenomenon, homosexuality should not be judged on moral grounds.

Sounds reasonable, doesn't it? I thought so, once, but now it strikes me as naive.

Once upon a time and long ago, I read a rather interesting short story.* In it, someone had discovered that homosexuality was biological and had developed a treatment for it. Unlike the Ex-Gay Groups of today with an acknowledged lack of success this was a Scientifically Proven Literary Device which did, in fact, cause homosexual characters to become heterosexual with no side effects. Though it was never illegal to be homosexual or engage in homosexual activity, the social stigma of having a disorder which could be successfully and painlessly treated led to nearly all homosexuals taking the treatment and becoming heterosexual. Infants were screened as a matter of course and treated whenever they were found to have the gay genes. The story focuses on the last homosexual man in the world, at the deathbed of his lover.

It is a poignant story about love and fidelity, as well as the isolation caused by being stigmatized for who you are when there is a painless way to "treat" the "aberration". It is also, due to the Scientifically Proven Literary Device, fairly optimistic. Most of the homosexuals took the treatment and were able to lead fulfilling lives as heterosexuals. Once the main character died, homosexuality would become nothing more than a disorder for which infants could be successfully treated. It would have gone the way of the dodo.

Let me paint a more likely scenario. Let us say that the so-called "gay gene" is discovered. Likely it will be a suite of genes that reveal a higher likelihood of homosexuality developing (I'm setting aside the idea of a sexual continuum for simplicity's sake). Prenatal screening for the gay genes becomes possible but it's unlikely that there will be any "treatment". What happens? In some cases, nothing. In others, abortions. Don't think it's likely? Consider sex-selective abortion, where female foetuses are aborted because they are female. Or perhaps I should bring up the personal anecdote of one of my lab mates. Her mother was pregnant relatively late in life with my lab mate and wanted to do prenatal testing. The doctor said he would only allow the screening if the mother promised to abort the foetus should the foetus show signs of having Down Syndrome or some other disorder/defect, as though simple information gathering was not a sufficient reason to do prenatal screening. (Her mother refused.)

Now, I am a firm believer in a woman's right to choose whether to bear a child or not and, even if I disagree with her reasons, I don't get to tell her she can't make that choice. The point I'm making is that the choice to abort is not made in a vacuum. It involves making a value judgement on whether a woman wants to bear a child with certain characteristics. Social pressure makes some abortions more sympathetic (or even desirable) than others and, furthermore, there can be a stigmatization of women who choose not to abort foetuses that are somehow "defective" or "wrong".

I don't want to turn this into a discussion of the morality of abortion and choice. I simply want to use it to point out that having a biological component and being natural is no shield to the belief that something or someone is undesirable and generally inferior (for more on this by far more eloquent people, check out FWD/Forward, a blog by feminists with disabilities). The fight for gay rights and dignity can't rest solely on the biological battlefield - it needs to be fought on the grounds that, morally and ethically, it is wrong to treat non-heterosexuals any differently from heterosexuals.

For that, Mr. Spooner, I salute you.


* I no longer remember the name of the story, nor the author. If you happen to recognize it and can send that info to me so I can update this post, you get brownie points.

Welcome to the Rock Show

According to the internet, genetics is the science of heredity. At first glance, this sounds like we're talking about genes and DNA. In actuality, I think the way that genetics is used outside of strict scientific jargon is much fuzzier. As an example, let's look at Repo! The Genetic Opera.

Repo! the Genetic Opera appeals to my exceptionally geeky side. The basic premise goes like this: in a dystopic future, organ transplants are in high demand due to some unexplained Plot Device that has caused widespread organ failure. Organs are provided by the company GeneCo but when a patient can't pay off their debt, the organ is repossessed by the Repo Man, who cuts out the organ while singing and dancing merrily about his job.

Did I mention this film is a rock opera?

So, if "Repo" refers to the Repo Man and "Opera" refers to the genre of the film, where's the "Genetic"? There's the unexplained Plot Device which may or may not be some kind of genetic defect but it's too underdeveloped to be the main justification for having "Genetic" in the title. The same is true for the mysterious blood condition of Shiloh, the Repo Man's daughter, which was inherited from her mother. Instead, I think "Genetic" refers not to genes per se but to ideas tied to both advancing technology in biology as well as older moral and philosophical thought. Shiloh's illness is a contrived fiction by a tormented father who wants to keep his dead wife alive and safe somehow. The owner of GeneCo, once in love with Shiloh's mother, attempts to steal Shiloh's affections for himself since he believes her to be his spiritual child. His actual children are moral degenerates who vie with each other over control of the GeneCo empire. On a more general level, the advanced technology which allows for rapid and efficient organ transplant has been corrupted so that the rich can pay for excessive and frivolous body modifications while the poor scrap together what money they can to feed their surgical addictions.

In other words, this isn't a film about the science of heredity - it's about the intersection of people, society, and biological technology. I think that's a fascinating place and that's what I want to explore with this blog.

Not quite as heart-poundingly exciting as a rock opera, but it will have to do.