Warts and all
Berci comments:
“Personally, I wouldn’t like to know about my ApoE status as long as there are no treatments…”
Well, this is the thing. Correct me if I’m wrong, my board-certified brothers and sisters, but my sense is that for most highly heritable conditions there are few meaningful treatments. Even if that’s no longer the case for Alzheimer’s (and I’m no neurologist, but I have serious doubts), I don’t think anyone would dispute the broader notion that we’re generally much better at diagnosing and characterizing diseases than we are at treating them. One hopes that that equation will continue to change as it has for, say, HIV (at least in the developed world), albeit on a much faster trajectory and without the same terrible cost in human lives and human suffering.
Until then, we clearly have the technology to blind ourselves to the parts of our genomes we don’t want to know about. My questions are more about the source of that reticence and whether it will last: how much grim self-knowledge can we live with and will the ready availability of genomic information alone raise the threshold of what we can tolerate? “I got sequenced because I could. And oh yeah, by the way, it turns out I am at 100-fold increased risk for Fatal, Incurable Disease X.”
And if we’re willing to find out for ourselves, are we willing to share it with others? For those of us signing up to be public genomes, even though we’ve been given the option to redact whatever we want, have we somehow signaled an implicit willingness to let it all hang out, no matter how ominous the data?
I work as the Science Editor for the Duke University Institute for Genome Sciences & Policy (although this site and its content are my own).
In 2007 I became the fourth subject in Harvard geneticist George Church's Personal Genome Project. As the PGP moves forward, I am chronicling the dawn of personal genomics, that is, people obtaining their genomic information for whatever reason(s) and figuring out what to do with it. I am interested in the relevant technologies and especially the attendant privacy and other ethical/legal/social issues.
This blog may also discuss some of my non-genome interests or, to paraphrase Dwight Yoakam, "Guitars, Cadillacs, hillbilly music, etc etc."
The header image comes from the Liz Lerman Dance Exchange's multimedia performance piece, "Ferocious Beauty: Genome."
September 14th, 2007 at 9:59 am
What say that most of the SNPs we have only increase risk by a teeny tiny little bit. It’s the cumulative effect that increases risk by several fold. AND, we’re not just looking for treatments here. We’re looking for prevention. What can we do to increase our risk EVEN IF we have a particular genetic variant associated with the disease? Lower the amount of fat in our meals (no more foie grois if you’re worried about Alzheimer’s!), exercise more, quit smoking…all the things we know we should do but don’t really bother until something cold and hard like a list of SNP numbers hits us upside the head.
September 14th, 2007 at 9:59 am
Oops. That should have been DECREASE our risk. I don’t have an early death wish.
September 14th, 2007 at 4:35 pm
You raise an important concern with ApoE, but it’s not the case that availability of treatment is the only consideration to make when considering getting one’s genetic information. Even if one cannot prevent a disease, there are other preparations that can be made.
Long-term care insurance is quite expensive and is more difficult to get–if not impossible–after the onset of a condition that necessitates this kind of care. (My dad had a massive stroke and didn’t have LTC, and now it’s impossible to get LTC because the inability to use the left side of his body is now a “preexisting condition.”)
Knowing one’s ApoE status might be helpful when making a decision to purchase LTC earlier on in life.
Sharing this information with others or making it public is another question, of course…would LTC providers consider the e4/e4 genotype a “preexisting condition” and thus uninsurable?
September 14th, 2007 at 8:05 pm
I think “don’t worry about it” is a healthy attitude, but I would still rather know.
To talk in terms of “100x higher risk” of a rare disease is alarmist BS. What is the absolute risk? What is the chance this will be what I die from? The odds of being hit by lightning are about 0.5 in 1 million. That’s half a “microdeath”. In laboratory safety training I recall being told there’s a microdeath of risk in driving 20 miles in traffic, flying 2000 miles on a commercial airliner, smoking four cigarettes, or eating 40 tablespoons of peanut butter. Cancer rates rise exponentially with age no matter how well you take care of yourself. You only live 30,000 days if you are lucky.
I do want to know how to recognize diseases I might encounter, like Lyme disease or Rocky Mtn. fever from hiking. You might say those can be nipped in the bud, so knowledge is prevention. What if I knew I was going to die in a year? No time to waste in anguish or even financial planning; I am now immune to anything that takes more than a year to kill me. Even a skydiving or climbing accident wouldn’t seem so tragic.
September 14th, 2007 at 8:38 pm
In my opinion, the solution will be the freedom of choice. We’ll ask the patient to decide what kind of diseases; increased risks he’s interested in. We’ll let him know what kind of diseases we haven’t got any kind of cure or treatment for. Personalized genetics is going to be a service so the patient must have the freedom, the possibility to choose which part of his “genetic/health fate” he wants to know about…
September 14th, 2007 at 11:09 pm
Is it the healthcare professional’s duty to inform? It is. I wonder if the law will spare the physician if the patient “opts out” of knowing the results. If you take an HIV test we give informed consent which states that you wish to know the results…. The problem is that Hsien is right. These are tiny increased risks and how can we tell you all of them? We need a continually updated genome stratification risk.
-Steve
www.thegenesherpa.blogspot.com
September 15th, 2007 at 12:50 am
Thanks, all, for your thoughtful comments.
Ignoscient, you’re absolutely right about LTC insurance. As I noted in an earlier post, when I told my primary care doc I was getting my genome sequenced, she advised me to load up on LTC and disability. I haven’t, probably more out of laziness or blind optimism rather than moral qualms.
Roger, I admire your attitude. And I don’t know what a microdeath is, but I’m thinking there’s a heavy metal song there waiting to be written…
September 15th, 2007 at 5:06 pm
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