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For the past few days I’ve been avidly following Daniel MacArthur’s tweets from the Personal Genome Conference at Cold Spring Harbor(@dgmacarthur #cshlpg).

The Personal Genomics tweets aren’t just interesting because of the science, they’re interesting because MacArthur and others have started to take on the conventional dogma in genetic ethics.

For years, there has been a strong message from the clinical genetics and genetics education community that genetic information is dangerous.

Unlike the other medical tests we’re continually urged to get (mammograms, blood pressure readings, sugar, colonoscopies) genetic tests are presented, at least in teaching materials, as risky. According to many teaching materials, you should not get a genetic test, until you’ve identified all the stake holders, and weighed all the pros and cons. Imagine if doctors used followed these procedures before reading someone’s blood pressure or taking their temperature. The implication isn’t stated, but the underlying message is clear: Genetic tests are different and more dangerous than conventional medical procedures.

Ironically, much of the negative atmosphere around genetic information seems to have originated from ELSI. ELSI was a commitment on the part of the NIH to use 1% of the money allocated to sequencing the human genome to fund studies on the ethical, legal, and social implications of the human genome project.

Instead, ELSI has produced several curricular materials that present genome sequencing as a “bad idea.” The biggest consequence of ELSI has been to turn the desire for one’s own genomic information into something shameful.   

People who get their DNA sequences are equated with skydivers, speed racers, and winners of the Darwin awards. All the signs say “Warning!! You are engaging in risky behavior that could endanger your family, job, and insurance policy.”

The top reasons for discouraging genetic testing

The usual reasons that geneticists give for discouraging people from seeking genetic testing are:

- the results are too complicated for most people to understand (most people are too stupid?)

- the risks outweigh the benefits  (This could be true, but we rarely talk about the benefits, and we obsess about the risks.)

- it’s expensive (According to Atul Butte, by way of Daniel MacArthur’s tweets, a colonscopy costs $6000.  This is now 6x more expensive then having 23andme sequence your exome, plus you would get far more information.)

It’s not just the education community

Some of tweets from MacArthur were on stories from Gholson Lyon on being unable to share findings from Next Generation DNA sequencing studies with patients. 

Patients in clinical studies must give their consent and acknowledge that they understand the risks of the study in order to participate. The forms that are used for consent are designed to protect patients and minimize risks.

A problem with some clinical studies is that occasionally the researchers find medical problems in the participants that weren’t known before the study. These kinds of findings are becoming more common with studies that sequence the entire genome. Unfortunately, the common practice has been to avoid returning this kind of “incidental” information back to the patients. After all, they didn’t give their consent to receive it.

MacAthur tweeted one story from Gholson Lyon where the researchers learned that a woman in a study, who was 4 months pregnant, was a carrier for a lethal disease. They weren’t allowed to tell her this because of the IRB constraints, and the affected baby died. According to MacArthur, ” … this emphasizes the moral horror of blocking return of research findings.


Out of the mouths of babes

A teenage conference attendee spurred one of MacArthur’s most intriguing tweets:

Anne West (only healthy teenager I know with a genome sequence) asks about consent forms: shouldn’t they include risks AND benefits? #cshlpg

According to @finchtalk, West, apparently used Next Generation DNA sequencing, to determine the DNA sequence of her own genome and that of other family members as part of a high school science project. 

 
West makes a good point. 

Why don’t we give equal time to talking about the benefits?

Maybe it’s time to acknowledge that genetic information is just like any other kind of medical information. Deciding not to get a test, never makes a problem go away.

Comments

  1. #1 Matthew Cline
    October 2, 2011

    Huh, interesting. I would have thought the primary risk of getting your genome sequenced is that someone else might get their hands on the data and use it against you.

  2. #2 Sandra Porter
    October 2, 2011

    I think making your genetic information public would be equivalent to making your other health records public. Some information is best kept private.

    Keeping information private though, is different from never getting it in the first place.

  3. #3 Matthew Cline
    October 2, 2011

    What I meant was, that if I was to get a warning about having my genome sequenced, I would expect the warning to be “some genome sequencing companies might sell your genome to insurance companies”, or something like that. The actual warning being so different than that surprises me.

  4. #4 Sandra Porter
    October 2, 2011

    I see.

    Well, if your genome was sequenced as part of a medically prescribed procedure, the insurance company would already own it.

    Your doctor is required by law to give all your medical information to your insurance company. So, they already own all your medical information.

    The only way that you can own your genomic information is if you get this information from a lab and pay for it yourself, without involving your insurance company or your doctor. I don’t think the companies that perform those kinds of services go out and resell that information.

  5. #5 XYZ
    October 3, 2011

    Actually, the conventional screening are as dangerous, if not more so than genetic tests. Ever heard of overdiagnosis? It could ruin your life and insurance. http://en.wikipedia.org/wiki/Overdiagnosis
    The geneticists are just being honest about it. A little knowledge…

    “Unlike the other medical tests we’re continually urged to get (mammograms, blood pressure readings, sugar, colonoscopies) genetic tests are presented, at least in teaching materials, as risky. According to many teaching materials, you should not get a genetic test, until you’ve identified all the stake holders, and weighed all the pros and cons. Imagine if doctors used followed these procedures before reading someone’s blood pressure or taking their temperature. The implication isn’t stated, but the underlying message is clear: Genetic tests are different and more dangerous than conventional medical procedures.”

  6. #6 Sandra Porter
    October 3, 2011

    There is a difference between a diagnosis and a test. The test simply provides information.

    A diagnosis is the interpretation of test results together with other information. Doctors can make mistakes in interpreting test results. Their mistakes can lead to complications.

    But an incorrect diagnosis is a mistake made by a doctor. It’s not the same thing as having a medical test.

  7. #7 Ian
    October 3, 2011

    Regarding insurance risks (at least in the US) – isn’t that what GINA is all about? http://en.wikipedia.org/wiki/Genetic_Information_Nondiscrimination_Act

    (I tried to include it as a hyperlink, rather than an ugly url, but it looks like Sb isn’t accepting hyperlinks any more)

  8. #8 gina rex
    October 3, 2011

    There is another side to this: having spent many years trying to get to the bottom of a medical condition that might be ‘inherited’- that is, get a CORRECT diagnosis, was mind-boggling! Doctors just don’t know much; they’re guessing half the time; they run up tests $$, throw drugs at patients, get cranky and blame patients for their symptoms, and generally behave badly. Even when you get a diagnosis, it’s wrong. AND all these diagnosis find their way to insurance companies (and seemingly everywhere else) anyway.

    I would have been thrilled to have a definitive genetic answer.

  9. #9 jkittle
    October 3, 2011

    It seems to me that they only increased risk is the risk of being turned down for insurance. The whole concept of “pooled risk” , which is the basis of the insurance industry math models, is at risk be cause now each person can (in theory) be assigned a very accurate INDIVIDUAL risk.
    Genomic information as THE major diagnostic tool is well on its way to braod acceptance. The way we pay for healthcare, including the Insurance industry will have to run to catch up. Denying this powerful inexpensive technique is ludicrous, especially if it is only because we do not know how to sell insurance in the brave new world. The cure is out there…
    With genome sequencing we can make sense of autism, diabetes and other growing national heath insurance concerns.
    It is not risky to know the truth, it is a diagnosis.

  10. #10 John
    October 4, 2011

    The ELSI funding was actually 3% to 5%.

  11. #11 anon
    October 4, 2011

    My wife received a genetic test in response to something her mother has. My wife tested positive but is completely asymptomatic for the disease which her mother has. She enrolled in a study of the disease and is of particular interest to the study because of her lack of disease symptoms. She was rejected for life insurance by multiple companies as a result of this.

  12. #12 Sandra Porter
    October 4, 2011

    @anon: That’s an unfortunate outcome but it’s not unique to genetic tests. Other medical procedures can also find information that affects insurance coverage. We need health care reform.

  13. #13 Ruth Saunders
    December 1, 2011

    Insurers will prey on any information. They are business operators so it’s up to you to decide the risks of testing on the DTC market before taking the test. The moment you decide to take it, you have placed yourself on the risky market and you alone are responsible for defending your interests. Anything else would be paternalistic.

  14. #14 Sandra Porter
    December 1, 2011

    One of the big differences between DTC genomics and having a clinical test, prescribed by your doctor is that you pay for the test yourself and you own your results. In the US, a test that prescribed by your doctor produces data that is owned by your insurance company.

    So you have greater protection from insurance issues if you use a DTC company to get your genotype.