Questions around personal genomics

The breadth of topics studied in medical anthropology — or anthropology in general — is so broad that when I choose to write about a wealthy, industrialized nation issue like personal genomics, I feel a pang of guilt that I’m not posting about malaria and insecticide resistant mosquitoes or the new UNICEF cholera toolkit.  It’s that diversity of topics that keeps me hooked, though, so here we go!

We’re at a point where genetic testing for various disorders is becoming more common and where it’s not prohibitively expensive to get one’s DNA genotyped.  This year, I asked for it as a birthday present; in a couple months I should have my report from 23andme. Since a number of factors went into my decision, I thought I’d use them to frame a post about the individual considerations of genotyping and sequencing.

Why do it?

For me, the answer is pure curiosity and that I like the idea of contributing my data set to ongoing research. I have no biological offspring, so I’m not looking for risk factors that may be passed to them.  My ethnicity and family tree are known and I don’t expect any surprises, but neither would they bother me. There’s also the possibility for customized medical treatment in the future, and of knowing right now if I’m more or less sensitive to some medications.

first world problems

I bounce with nerdy excitement thinking of some things I could learn, even if the knowledge doesn’t have much practical application. For example, the American Red Cross won’t take my blood because of a remote possibility that I was exposed to Creutzfeld-Jakob Disease  in the early 1990s. This test won’t tell me if I was exposed or not, but it can reveal if I have an A at both copies of rs17571, which is correlated with ten times greater risk of contracting the disease if I was.  Neato!

What about privacy?

I’m not prepared to join the ranks of people who have released their genetic information online, yet.  Micah wrote about the shocked reaction of Henrietta Lacks’ family when the HeLa genome was published and while DNA may be unique, I don’t feel it’s ethical to reveal genetic information about my parents or possible information about my sibling without consent.  Dan Vorhaus at Genomes Unzipped has a good post about his decision to take his genetic information public and how he approached his family. The potential for the abuse of that information by others is too great, and I when I decided to have the test done I weighed the chances for stigma and discrimination, not only based on what genetic knowledge we have now but what we might learn in the future. I’m too hacker-aware to believe my data will be truly private or anonymous anywhere, so that was part of my calculation. I decided not to consider the more remote possibilities, such as those in the prequalification reading for enrollment in the Personal Genome Project:

More nefarious uses are also possible, if unlikely. DNA is commonly used to identify individuals in criminal investigations. Someone could plant samples of DNA, created from genome data or cell lines, to falsely implicate you in a crime. It’s currently science fiction — but it’s possible that someone could use your DNA or cells for in vitro fertilization to create children without your knowledge or permission, or to create human clones.

What if the test shows something terrible?

A lot of what we know now is limited to correlations and increased chances.  I disagree strongly with congressmen who think that someone who learns that he has a genetic risk factor will “panic first and ask questions later”, which seems like a reductive and wrong guess at human behavior, especially among those who are proactively seeking that information. Some very intelligent and knowledgeable people  — James Watson and Steven Pinker among them — have chosen not to learn if they have a variant associated with a higher risk of Alzheimer’s Disease (read Pinker’s great article about his personal genomic explorations). I want to know all I can.  Maybe I feel confident because I’ve immersed myself in genealogy recently and have seen a lot of long-lived ancestors, but I think that I can handle it.  There’s a big difference between increased risk and a certain future, after all.

What’s the anthropological angle?

There are several:

  • This piece from the Yale Journal of Biology and Medicine nicely summarizes Margaret Lock’s talk on this topic at the 2009  Society for Medical Anthropology meeting.  From the article, “…Lock believes that it is now time for anthropologists to be more accepting of this reality and even aid the integration of the genomic era by examining the many issues that arise because of its associated activities, such as the social implications of genetic profiling, the ownership and moral dilemmas of engineering hybrid crops and livestock, and the societal perception of the newly formulated concept of man’s own hybridity.”
  • There is a question of ownership and advocacy to explore. Myriad Genetics has patents on genes BRCA1 and BRCA2, which have been in the news lately because of Angelina Jolie. These patents prevent other companies from testing for mutations on those genes, keeping the price high. The ACLU took this issue to the Supreme Court last month and a decision is expected in summer, but as our genetic knowledge expands, ensuring access to diagnostic testing seems like an issue we’d care about.
  • The field of anthropological genetics and the more broad molecular anthropology. One of the features 23andme promotes is an estimation of what percentage of a subject’s DNA came from Neanderthals. I’m a bit wary of that one.
  • Every aspect of human experience from avoiding or seeking testing, to how results impact one’s identity and risk perception, to watching for the creation of new social categories based on genetic factors, to whether this is just reinforcing the hegemony of “Western” medicine.

The robot in the white coat

The cover story of the March print edition of The Atlantic is “The Robot Will See You Now”, which explores the various ways that technology is queued to disrupt the medical establishment.  IBM’s Watson is now working through case histories from Memorial Sloan-Kettering, a step toward a much more sophisticated diagnostic and treatment recommendation tool than symptom searches in medical databases.

While I don’t undervalue the talent of an experienced doctor to perceive symptoms that may not be mentioned as complaints and put them together into a better diagnosis, I found myself nodding when one physician on Watson’s training team mentioned the problem of “anchoring bias”, in which one symptom is given priority and others are ignored or seen as unimportant.  That can be multiplied with other prejudices, such as the implicit and explicit bias against fat people that was shown in a study released a few months ago (this post from Jezebel describes the situation well), making it more difficult for members of some populations to receive a valid diagnosis.

The article also discusses the improvements in monitoring technology that are being pioneered by the enthusiasts in the quantified self movement that I’ve posted about previously.  It may soon be possible to wear a monitor that reports regularly and wirelessly to your doctor on an important statistic that is being tracked: blood pressure or heart rate, for example.  A scale or blood sugar tester could share data every time it’s used in the same way.

Potential changes in the career paths of medical workers are considered and decreased contact between doctors and patients for routine issues seems likely.  This could boost the already strong prospects for nurses and physician assistants and — as the article states — allow “everyone to practice at the top of their license.”

This article comes out the same time as a study of robot-assisted hysterectomies determined they are increasing in prevalence despite costing 100-200% more than the standard surgery.  There is little evidence of any improvement in outcome and the suggestion is that the surgery is becoming more widespread due to marketing, not only to the medical establishment but also to patients.  We’ll be wise to remember that new and high-tech doesn’t always mean it’s better for patient care, as Monty Python tried to show us decades ago:


Addition: For a half hour audio discussion of this topic, take a listen to Talk of the Nation with Ira Flatow from June 1, 2012.  Flatow speaks with guests Dr. Eric Topol, author of The Creative Destruction of Medicine, Dr. Reed Tuckson, head of UnitedHealth Group, and Dr. Arnold Relman, former editor-in-chief of the New England Journal of Medicine.

Perils of quantification

New Year’s Resolution season is upon us again and with it, many of us will be setting goals that are tied to our behavior or self-improvement.  With a goal there should be a way to measure progress, and watching a number change can provide potent motivation.

That’s part of the basis for the quantified self movement, consisting of people who use self-tracking to collect data about how their bodies and minds work (we’ll debate duality another time), often for the purpose of understanding and optimization  This is introspection and self-disclosure taken to a new level.  Some use an artistic approach, like Buster Benson, who – among many other things – takes a picture of himself at the same time each day.  J. Paul Neeley, seen in this video from the Mayo Clinic Center for Innovation Transform 2012 conference, has put a lot of thought into optimizing his happiness based on observations from self-tracking.  Others take a hardcore medical approach, tracking weight, heart rate, respiration, blood pressure, sleep hours, caloric intake and balance, and other objective numbers.

Many of the methods used by quantified self practitioners could be found in a social science textbook, but they are applied to a sample size of one.  Some of the findings apply no further.  Other data, shared and aggregated, could lead to discoveries that improve the lives of many.  I’ve seen the movement described as little more than a herd of narcissists, but my opinion is that it’s a display of millennial attitudes of curiosity, openness, introspection, and embrace of technology (which are not limited to an age range, but worldview).  Perhaps it’s microanthropology or micropsychology as well.

That said, I was struck by a short essay by Jeff Wise on the last page of the November 2012 issue of Red Bulletin magazine (produced by the energy drink company yet a fun, free read; see their website).  His piece, entitled “The Measure of a Man”  begins by talking about the difference between subjective methods of self-awareness, such as “I have trouble fitting into my clothes” and objective ones like “I weigh 233 pounds.”  Seeing the number on the scale go down to 232 provides immediate external positive reinforcement and a sense of control.  It’s strong motivation to keep moving that number in the preferred direction.

However, Wise points to the danger of focusing on a particular metric.  He compares it to the use of a district-wide test to measure student performance.  “The first year… their scores offer a rough measure of the overall quality of their education.  But in subsequent years, those scores will increasingly measure something else: Teachers’ ability to prepare their pupils for that particular exam.”  Applied to tracking weight, he warns that “what you measure becomes what you do, and what you do becomes who you are,” with the potential for eating disorders, substance abuse or neglecting other aspects of good health.

In reading blogs of the quantified self crowd, I’ve frequently seen this in confessions that the trackers have changed behavior to make one particular metric “look better”, often at the expense of others.  Even in our introspective attempts to understand human nature, we display it.

2012 Wired Health Conference, simulcast tomorrow & Tuesday

This year, the Wired Health Conference will be exploring personalized medicine, which includes the fascinating growing area of the quantified self:

The theme of the event is “Living By Numbers” — the notion that new data and analytics are enabling better healthcare delivery and research. The idea is straightforward on its face: By paying heed to our health, and taking advantage of new tools for self-monitoring, feedback, and community, we can empower our own actions and skirt the disease risks that life throws at us. But this potential is only just upon us, with the combination of new computing power, ample data storage, and having the right questions at hand. This technology is just beginning to enable the new frontier of personalized medicine: combining the insights of epidemiology with our own personal metrics to customize medical science to individuals.

You can watch the simulcast live, free.  Talks begin at 4:00pm Eastern on Monday, and run from 9:00am-5:00pm Tuesday, with an exciting roster of speakers.