Soapbox Science

There is no “normal”

Dr. Chris Gunter is the HudsonAlpha director of research affairs. She earned a bachelor’s degree in both genetics and biochemistry from the University of Georgia, and a Ph.D. in genetics from Emory University.  Her research was centered on human genetics and genomics. Chris has also earned publishing experience at several journals, including editorial positions at Human Molecular Genetics and Science, and as the editor for genetics and genomics manuscripts at Nature. Upon starting to publish genome papers at Nature in 2002, Chris told her boss that if they ever got the platypus genome published, it would be time to move on. She started at the nonprofit HudsonAlpha Institute for Biotechnology in 2008 and coordinates research activities in genetics and genomics. She creates and maintains an academic environment and communicates HudsonAlpha’s research in a variety of different formats and public venues.
Chris also holds adjunct appointments at three universities, is an editor of the blog Double X Science, and currently serves on the Program Committee and as the chair of the Communications Committee for the American Society of Human Genetics. For probably too much info, see her @girlscientist on Twitter.

I know how this sounds, but it’s true:  I chose to go into human genetics because I wanted to help people. An early-onset case of alopecia, or patchy hair loss, left me wanting desperately to be “normal.” I vowed to seek out a cure and to end people’s suffering – yes, yes, all of those melodramatic teenage vows. My teenage-hood is long gone, but I still believe in the promise of human genetics to aid in discovery of both cause and treatment for everything from single-gene to complex disorders.

Given that, I must confess to not being able to relate fully to current struggles regarding personal genomic data. Of course there are legal issues, insurance costs and cultural concerns. Humans are involved; these are unavoidable. We’ve got big topics and multiple stakeholders, and I’m not minimizing their importance. However, in 2012 I’ve been to multiple conferences where we in the field keep focusing on the difficulties in educating people about the information contained within their own genomes.

I’m concerned that we are mired in the difficulties and turning people off genomics, rather than inviting them to join us. For example, The American College of Obstetrics and Gynecology has recently released guidelines on “Personalized Genomic Testing for Disease Risk,” and reaffirmed its earlier opinion that for now, “direct and home testing should be discouraged because of the potential harm of a misinterpreted or inaccurate result.”

In April at the GET Conference, I was struck by an alternative strategy after hearing from a member of the Personal Genome Project, John Lauerman. John is a reporter with Bloomberg News writing about the experience of having his own genome sequenced. His main message:  We don’t spend enough time teaching people the positive parts of genomics.

Receiving his genomic data was like landing in a foreign place, and he needed a guide or map. In our current communication of the data as a roadmap, he said, there are lots of road signs saying “danger,” “caution,” “falling rocks” – but there are not enough saying “rest stop” or “scenic overlook” or “shelter here.” Scientists, healthcare providers, and the media focus on the disease-causing parts of the genome, and warn of the dangers. (I too have been guilty of that as a scientist and communicator.) But John pointed out that we also have protective alleles and positive factors in our genomes. Could we do more to focus on positive messages and create “scenic overlooks” in the genomic roadmap, as a way to both reduce anxiety and interest people in exploring their genomic data?

I think his roadmap analogy particularly struck me because much of the coverage of John learning about his genome was like this: “Unexpected scary findings: the tale of John Lauerman’s whole genome sequencing.” In his genomic data, John found he has an acquired blood mutation that could possibly lead to a myeloproliferative disorder. Not exactly a rest stop.

In keeping with the need for less dramatic anecdotes, I’ll share my story. My own experience with my genomic data has been quite positive. I am a single mother. I was about to turn 40. I was trying to decide how much life insurance to buy before I crossed that cost milestone. We all deal with “Big Life Decisions” in our own way; I need as much information as possible. (e.g. How can people not find out the sex of the baby in advance? I can’t even begin to imagine that!) I thus thought, why not get so-called direct-to-consumer genomic testing and find out what I could?

Like everyone, I opened my reports from two different direct-to-consumer companies with trepidation. Truly (especially given the way these events are usually covered?), I did not expect the emotion that overwhelmed me after each:  relief. My genome does not appear to contain known risk alleles for a number of diseases, including some cancers and neurodegenerative conditions. Could I have predicted this from my family history, where these diseases are mostly absent? Yes, probably so. Did I still feel greatly relieved on seeing the data on the screen? You bet.

Of course I understand, as many people do, that diseases are complex and this does not mean I definitely won’t develop dementia or cancer. But the road signs I was most worried about in my genome all pointed to rest stops and scenic overlooks. In fact, an unexpected benefit of this testing was the ability to call my parents and assure them that they had to be at least heterozygous for multiple low-risk alleles. This led them to want their own similar tests, and then to link to my results purchased under a pseudonym, rendering that subterfuge pretty much useless. Parents.

One aspect of my job at a nonprofit biotechnology institute is translating what we do for the non-genomicist. (Huntsville, Alabama, actually boasts one of the highest concentrations of rocket scientists and engineers in the USA.) As I occasionally tour people by our genome sequencing machines, I explain what the machines are doing and how much data we are generating each day. We usually compare “normal” or unaffected samples to samples from a group with a specific disease, and look for significant genomic differences between the groups.

Particularly at first, every genome that was sequenced and deposited into public databases by labs like ours revealed more polymorphisms and mutations than our field expected. We learned that of our only about 20,000 genes, “normally” 100 or more of them in each of us have one broken copy and in about 20 copies, both are broken. This is why our institute and many others apply for funding from granting agencies and donors, I tell the tour groups, because a number of human conditions do not yet have sufficient treatments and we firmly believe that genomics can help.

But my experiences this year have led me to add to my presentation.

“Can you believe,” I say to the visitors, “that we each may be walking around with hundreds of broken genes – and we still work?”

How cool is that? Some of these broken genes impact our health directly, and others don’t. These sequencing machines are helping us discover the complex and positive ways in which our genomes can protect us from both our own bad behaviors and some broken places we’ve inherited from our families. As it turns out, there is no “normal” genome.

My own test results confirmed that I have known variants that raise the risk of alopecia, and that I inherited these from my parents. I could keep focusing on not being “normal,” or I can choose to appreciate the scenic overlooks instead. I’ve never had to shave my legs! I don’t even know how to tweeze eyebrows. There are entire sections of women’s magazines dealing with both hair maintenance and removal that I can just skip right over. Talk about your rest stops!

In the past when visitors asked if they should pursue their own genomic testing, I’ve typically said, “probably not, unless you are able to discuss the results with a medical professional.” Or “only if you can treat the results as fun and not medically relevant.” Now, I say that they should consider what they would do with the information. There are a number of issues – Will they read all of the information that comes with the test(s)? Do they know where to go for important fact checking or confirmation of their understanding of the results, before they act on anything they learn? How will they manage either positive or negative news, both by themselves and in telling their family?

Here’s the key new message:  all of these issues can be addressed. Again, I’m not minimizing issues of genomic testing, but let’s shift our focus to the positive. We’ve all got our own roadmap with a patchwork of potholes and spectacular views. If people are up to the challenge, then why should we discourage them from learning about one of the most exciting scientific experiments around – themselves?

Comments

  1. Report this comment

    Chris Gunter said:

    Over on Google+, Mary Mangan left this comment:

    “Mary ManganJul 11, 2012 – Public
    Chris Gunter has an upbeat piece on personal genomics at Soapbox Science.

    “I was trying to decide how much life insurance to buy before I crossed that cost milestone.”

    Yeah, the information is incredibly fascinating. And could have benefits…. But the regulatory environment is not protecting people at this time. That test she took could have prevented her from getting life insurance. Richard Resnick’s excellent TEDx talk specifically showed his insurance application which demanded to know if you’d taken a consumer genetic test. If some unfortunate alleles had turned up, they could have turned her down.

    It’s fine to talk about the benefits. But I don’t think it’s right to not mention that.

    Resnick’s talk: http://blog.openhelix.eu/?p=9173”

    —————-

    Mary makes a good point: self-purchased life insurance is not currently protected under the US law called GINA [see here for more info: http://www.dnapolicy.org/gina/gina.html#insurance15%5D, but is protected under some state’s laws. And in the talk, Dr. Resnick shows a form for life insurance where he has to disclose whether or not he’s had genetic testing, or risk being charged extra for the policy. Perhaps, when life insurance is no longer provided by my current employer, I will have to deal with the same issues.

    This is definitely a problem which, in my opinion, needs to be addressed through further legislation here in the US.

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    manjeet chaturvedi said:

    Sociologically speaking, patterns of behavior that obtained over time in a particular group, a community or even a large society became the social norms which are specific and achieve the status of ‘normal’ for the members of the particular collectivity. With advancement of society, ‘the normal’ has been defined and followed by the individual members. Most of the norms laid the foundation for the ethics and the written laws.But interestingly, many things – behavior and their patterns, code of conduct, morality, even laws – are not ‘normal’ for all the societies and cultures. However, some of the social norms are definitely universal.

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