I’ve got a gene for Alzheimer’s

It turns out I have a gene for Alzheimer’s Disease.

That’s the news from 23andMe, a genome testing service that was approved by the FDA this month to inform consumers about the content of their genetic code related to certain disease states.  This approval follows a 2013 FDA letter disallowing the company from providing such services.

The FDA was concerned about the risk of “false positives” reported by the 23andMe, the kind which might cause an inappropriate response by the knowledge bearer.

For instance, if the BRCA-related risk assessment for breast or ovarian cancer reports a false positive, it could lead a patient to undergo prophylactic surgery, chemoprevention, intensive screening, or other morbidity-inducing actions, while a false negative could result in a failure to recognize an actual risk that may exist. Assessments for drug responses carry the risks that patients relying on such tests may begin to self-manage their treatments through dose changes or even abandon certain therapies depending on the outcome of the assessment. For example, false genotype results for your warfarin drug response test could have significant unreasonable risk of illness, injury, or death to the patient due to thrombosis or bleeding events that occur from treatment with a drug at a dose that does not provide the appropriately calibrated anticoagulant effect.

I would argue the FDA’s approach is well-intentioned but misguided, for a host of reasons.

  1. First, it’s my genomic information – not 23andMe or the FDA’s.  If I want it, I should be able to get it.
  2. The health care system already generates false positive diagnoses. The answer to overcoming those isn’t a restriction of information, it’s the proliferation of it.  More information from a more diverse set of sources allows for better decision making.
  3. The FDA’s position is counter to consumer-led reforms.  If we want consumers to be more empowered in managing their health, restricting information available to consumers isn’t the way to do it.  That principle, no matter how well-intentioned, is oppositional to a well functioning demand-side of the market (consumers) that can make cost-benefit decisions about the care they wish to receive.
  4. The FDA’s position is counter to innovation.  If the FDA reviewed the Apple App Store when it first came out, it might have been limited by the fear that consumers would do something to harm themselves as a consequence (like playing games while driving).  But that would have disallowed a tremendous wave of secondary innovation, from podcasts to step trackers.  Testing our genome is a step towards finding significant opportunity for next-generation innovation to work with that data for the benefit of consumers.

As a consumer with this new information I can tell you I appreciate knowing the details.  My grandfather died from Alzheimer’s, so it’s something I’ve been aware of.

Not everyone wants to know this sort of detail, and 23andMe was very good about making sure I provided multiple affirmative consents before giving me this information.

But that’s the power of the market.  Some will be early adopters, some will never adopt. Folks should be allowed to choose for themselves about the kind of information they want to support their health.

Moreover, this new information has created a demand in me for more information.  I want to know other things my genetic code has available for me and other tools in order to better manage the health of my body.

I’m out of Plato’s cave, so to speak.  I’m not interested in more darkness; I want more sunlight.

As for me, this has reminded me that I’m mortal in a way that has only happened to this degree twice in my life:  when my first child was born and when I had a massive concussion and brain bleed.

It’s easy to be distracted with our lists and our short term needs, the items that one friend calls the “tyranny of the right now.”  That’s a legitimate part of our professional world these days.

However, this information has reminded me of something we all know but which we generally choose to overlook.

Our time here is shorter than we think.