Sunday, July 18, 2010

Protection or Paternalism? - Part Three on 23andMe's Genomic Policy Forum

SURGEON GENERAL'S WARNING: DTC genetic testing delivers information that could cause you to jump off a bridge, cut out an organ and may complicate the health care industry's ability to maximize their profits.

After my Part Two blog, I realized, why shouldn't I be outside taking advantage of the nice weather? Times have changed! So, here I am now blogging at the beach and wondering why, in this digital age, the medical community is still struggling to digitize our medical records.

For us personal genomic enthusiasts the question of the day is: Will impending regulation limit our right to have access to our genetic information and, if so, to what extent?

I am told that when deliberating on regulation, the FDA uses a risk-vs-benefit model. They consider potential adverse outcomes for the consumer when deciding how and when to regulate. As of late, there is this fear of consumers making adverse decisions based on their DTC genetic test results. Is this a well founded fear? The question that I posed to the panel in the final segment of 23andMe's genomic policy forum on Wednesday was this: Is this risk a real, demonstrated one or an imagined one?

This is not a brand new industry. In fact, several companies have been providing genetic profiles long enough that we should be able to get a definitive answer to this question. Have there been any real life, significant examples of adverse outcomes or harm done to a customer during this time? Since any industry has some incidences where a customer has had an adverse outcome, one would imagine there must be some in DTC genetic testing, right? Other than the over-sensationalized stories of late that have turned out to have no reported long-term consequences, where are they? If the few people involved in the recent, much covered, sample mix-up are tired of being hounded by reporters (which they are) and national reporters are having to aggressively seek negative experiences from DTC consumers (Daniel MacArthur's Genetic Future blog), with some even going so far as to exaggerate the comments of the ones they do speak with to give them a more negative slant, doesn't that, in itself, tell us something?

Opponents of DTC genetic testing are raising the spectre of distraught consumers jumping off bridges or cutting off body parts for knowledge of their risk factors. (Since when can you cut off/out body parts without first consulting your doctor and then without the the aid of a surgeon anyway?) In sharp contrast to some of the FDA approved pharmaceuticals that have proven side effects, including death, where are these adversely affected consumers?

Are we regulating for the lowest common denominator or for the reasonable consumer? Any reasonable customer when confronted with what they perceive as disturbing test results, will go to their doctor to inquire about it. The doctor can, in turn, weigh the environmental factors and medical history and advise the patient. For example, if a woman tests positive for the breast cancer gene, can she choose to undergo a double mastectomy without a doctor's input? Of course not.

The only potentially authentic risk that I heard presented at the forum was one of the patient/consumer deciding to forgo regular check-ups because they feel they are not at risk for certain illnesses. People make, arguably, worse health decisions without interference all the time. Perhaps the government should regulate fast food consumption and institute mandatory work-outs, like gym class in school. How about the fact that consumers have direct access to cigarettes and alcohol, both of which have demonstrable risk and place an immense burden on society? If the FDA and Congress are so concerned about the public's well being, then why not deny or heavily regulate access to these unquestionably harmful choices? Perhaps because there is no perceived economic gain in doing so, while sadly, there is never-ending and ever-increasing phenomenal economic gain involved in the treatment of obesity, diabetes, heart disease…the list goes on.

For approved dangerous pharmaceuticals, it is said that the benefits outweigh the risks. But what are the side effects of education and information? Are we being protected from ourselves? If we are going to consider the risks posed by DTC genetic tests, then we also have to consider the benefits. Adverse outcomes get lots of press, but what about all of the quiet benefits and successes? How many children won't suffer from Mendelian-type diseases because their parents learned of their own carrier statuses from DTC testing before reproducing? How many people who have put off visiting their doctor may be encouraged to do so from the results of their tests?  How many of these private, individual stories will we hear? In this, I can speak from my personal experience. To my surprise, my 23andMe test results showed that I am a carrier of Cystic Fibrosis. I would never have imagined my genes held that secret because nowhere in my extended family history has this disease ever made an appearance (and being a genealogist I know my family's medical history). This discovery inspired others in my family to test to determine whether they are also carriers. This is especially important knowledge for my five nieces of child bearing age. How many other families will be forewarned and, as a result, knowingly avoid tragedy. Will we ever know?

How about all of the people who are motivated to healthier lifestyle choices by finding out that they have a potentially elevated risk for a certain condition? Again, I can speak for myself in this arena. Among my risk factors are several diseases that can be combated with healthier dietary choices. Did I already know that I should be eating more fiber or green leafy vegetables? Of course I did, but there is something so intensely personal about your own DNA being the one to warn you that, somehow, you finally listen. I know that I am not alone in this.

Maybe, instead of focusing on these anticipated adverse outcomes from DTC testing, we should be asking: How many adverse outcomes may be AVOIDED as a direct RESULT of DTC genetic testing? 

The airways are blasted with commercial messages depicting smiling “patients” gardening or leisurely strolling the beach at sunset as we hear about the gruesome side effects of the drugs they are promoting. I guess its okay with the FDA to take drugs for depression because if you die from rectal bleeding from their side effects, at least you’ll die with a smile… and if your erection last more than four hours you should call your doctor because you COULD die from it, but, well, what a way to go…(and what a great marketing ploy...) So, then, it begs the question: What are the potential side effects of a DNA test? Is it that we will be given information that we are too stupid to handle? Is it that we can’t handle the information that we are given? Is it that someone – for your own good – must look at the information, interpret it, edit it, if necessary, and then decide whether or not to let us see it? Well, isn’t it good to know that someone is looking out for us … protecting us against ourselves? Or, does it sound a little too much like the Orwellian Big Brother looking over our shoulder?… OR, does it sound the most like: The business of personal genomics is predicted to become, perhaps, the most lucrative industry of this century, and we’d better make sure that we get the lion share of it…because, well, we really care about you, really, really care…?

In 2008 the AMA adopted policies opposing DTC testing (here) and said that they want to be the ones to decide who should have a DNA test and when. In the Pharmacogenomics Reporter Turna Ray reports:
The nascent direct-to-consumer genetic-testing industry has so far kept physicians on the sidelines by asserting that individuals have a right to view their genetic information, but the nation's leading physicians' group recently said that MDs should play a central role in determining when and on whom a genetic test may be performed. The American Medical Association during its annual meeting in June adopted a new set of policy recommendations that seek to heighten the role physicians play in administering genetic testing by making them the go-between separating genetic testing companies and consumers. 

Does that sound self-serving, or is it just me?

And now, finally, we have come full circle back to the reason I attended 23andMe's forum in the first place - one that I cannot ignore - Ancestry DNA testing. Personally, I feel even more comfortable with my decision to test with 23andMe for my health risks because they include my ancestry information in my profile. This functions as an unintended safeguard. As has already been demonstrated, in the rare event of a sample mix-up, the ancestry portion is what will alert us to the problem. It would be a mistake to separate these two types of tests in the process of subjecting one or both to strict regulation. Furthermore, it would be completely without foundation to enact restrictions on Ancestry DNA testing itself since it neither carries real nor imagined risks.

So, maybe the most burning question we should be asking ourselves is this: Why all of this focused attention now - from the FDA, from Congress, from the AMA, from the media? Should the decision to regulate be influenced by those who directly or indirectly benefit economically from such regulation?  Regulation may be essential to ensure quality and accuracy from the companies providing these services, but it should not infringe upon our right to directly and privately access this very personal information.


  1. Thank you, CeCe, for providing an excellent, well-thought-out argument on behalf of consumers everywhere who want to be able to choose whether or not to be informed about their own DNA.


  2. Your astute observation of risk-cost verses risk-benefit analysis to society is highly practical and reasonable for DTC genetic testing. An individual can always take a DTC testing result to a physician or genetic counselor for review or concerns.

    If the AMA has its way, you will never see the results, only what the physician wants to impart to you. If the Doctor thinks you are too stupid or psychologically unfit to handle the results, they will not tell you because their words may be twisted and used against them in a lawsuit.

    Is it not a shame that the AMA wants ultimate control over anything that deals with your body? Will breath analyzers be also deemed medical devises that can only be used by qualified medical personnel? Will diabetes be forced to go to their Doctor's offices for their dally simple blood sugar testing? Will DTC genetic tests be regulated to allow the AMA ultimate control? Think about it.

  3. Thank you CeCe for a well thought out, reasoned argument.

    May I add what happened since the AMA took over childbirth more than a century ago? Has anyone noticed the 40% C-Section rate?
    Judy Simon

  4. These are EXACTLY the same arguments the AMA made against allowing at-home pregnancy tests, "women won't be able handle the results without the guidance of a physician". What's more immediate and life changing, learning that you're going to give birth in several months OR that you might have a slightly increased chance of getting diabetes in 20 years?