Aaron Berdofe, MHI – Health Informatics

If you’ve been paying attention to the healthcare news lately you might have heard that the genetics testing company 23andme has put a halt to their testing at the request of the FDA.  The official reasoning?  The FDA feels they “still do not have any assurance that the firm has analytically or clinically validated the [personal genetic testing] for its intended uses.”  The letter goes on to state that the main concern lies in potentially inaccurate positive results (or false positives) for certain health risks.  I think it’s important to emphasize here in addition to my selective italicizing that 23andme has never made claims that a positive finding on their test means that a customer already has or absolutely will develop a certain disease.  What they do is calculate an individual’s risk of developing a health condition in the future based on a genetic sample and what the current medical research literature says.

Before this goes any further, I should point out that I have zero financial interest in 23andMe.  However, I have purchased their service in the past and had a positive experience with it.  I want to make the point though, that I paid the company money to find out information about me and allow me to use that information in a way that I see fit.  Because that’s what this is really about, isn’t it?  Who controls what information?

The FDA’s complaint could probably be academically debated with equal arguments on both sides.    23andMe has not completed the studies they said they would upon creating their company and thus do not have adequate research to back up all of their test indications and simply knowing you are at risk for something doesn’t necessarily help you avoid that risk.  However, this is something the company doesn’t hide.  When you get your results, a list of health conditions and their associated risk factors are listed in descending order of how confident they are that their analysis is correct (most confident at top, least confident on bottom).  Also, 23andMe results don’t actually diagnose people with anything.  The mitigation of potential diseases is what the FDA seems to have a problem.

The particular result the FDA listed as example was of course the one for the BRCA genes which are strong indicators for breast and ovarian cancer.  This is a choice, by the way, when you get your results back from 23andMe as to whether you want to see this result or not.  Every diagnostic test has a certain rate of error.  One type of error is a false-positive in which the test indicates something is present when in reality that something isn’t there.  In this BRCA case, the test would indicate the presence of the gene even though the person doesn’t actually have the gene.  The other type of error is a false-negative which neglects to indicate something is there when it actually is.  In our BRCA case, the result would come back as negative for the gene when in fact it exists.  Which error is worse depends on what is being tested for and the consequences of believing that result.

These errors are one of the many reasons the FDA exists in the first place.  They look at the research done and determine whether the rates of the errors are acceptable or not.  The medical community generally understands that errors can happen in testing, which is why they try and use multiple indicators to pronounce a diagnosis with confidence, but do you think physicians really know the false-positive and false-negative rates of all the tests they order?  There are issues in the community about this lack of knowledge which can be seen in concerns with the false-positive error rates of HIV testing.  The FDA even issues tips on being aware of false-positive results though they generally target laboratories and not physicians.  Having looked over thousands of lab results in the near decade I’ve been in HIT, I can emphatically state that the results are not accompanied by the test’s error rate.  Coming back to 23andMe, to my knowledge, their BRCA indicator error rate is no different than the other genetic tests that exist out there right now.  There is one difference between a genetic test performed by 23andMe (or one of the other genetic testing companies) and what we consider to be a laboratory or diagnostic testing center:  The latter are ordered by and the results received by a physician.  A person could illogically want to act drastically on the results of a single test like this regardless of where they receive the results from.

The industry of healthcare inherently has a problem.  OK, it has lots of problems, but at the core of its structure the issue is that we have traditionally used physicians as gatekeepers between us as patients and the body of knowledge we have about health.  Now I have met plenty of physicians who would willing give up this role to become more of a partner in helping their patients with their health (Sorry for the inflammatory headline), but this gatekeeper role parallels how the world has worked up until the era of the internet: those with the information have the power.  We see this in politics still especially with Wiki Leaks and Edward Snowden.  It is considered treason to give away information even though the actual information leaked didn’t necessarily have a negative impact on much of anything.  I hate to make this a generational thing, but I have generally found that there is a stark divide in thinking that tends to fall along generational lines…or at least the line of knowing how to harness the power of the internet-enabled world.  Speaking and writing a little about this topic has bolstered my own anecdotal evidence for this.  The old way of thinking has been that having information that others do not makes one powerful.  The new way of thinking is that since information is so prevalent, it’s what you do with that information that really matters.  Secrets are becoming things of the past.   You see this in technology too.  The successful companies now are the ones that are interested in connecting with others, and the old tech that will eventually become minor players are the ones that build walls.  As an aside, I predict we’ll see this play out in the EHR world over the next 10-15 years once Meaningful Use has subsided.

So is the FDA treating 23andMe fairly?  Probably not.  They are most likely using them as example to send a message to all of the genetic testing companies to take a more traditional role in the healthcare system.  That role of course is behind the physician gatekeeper and not marketing directly to consumers.  Those of us who have been involved in patient portal role outs at healthcare organizations have seen this argument already playing out.  There are a number of physicians who have great concern over allowing the results of diagnostic tests be sent directly to the patient without a physician reviewing them first.  These are the ones that still view themselves as the ultimate gatekeepers between a patient and understanding that patient’s health.  Have you ever noticed how some are particularly stodgy about letting others see their progress notes too?  I don’t think the intentions of these physicians are bad.  I have never met a physician who doesn’t want their patients to benefit from being seen by them, but perhaps the role they see themselves playing in their patient’s health is misplaced.

When physicians first started making house calls and tending to our issues, their word was final.  Then came the era of the second opinion when we realized that medical knowledge could be interpreted differently and was perhaps fallible.  Now we are entering the era of physician teams to represent a consensus of opinion.  Yet, we keep talking about having the patient be a part of this team like they can be equal partners and then not letting the patient control their health records or properly investigate their own health by getting their own diagnostic tests.  Historically, the physician’s role as gatekeeper has been somewhat eroding over time and it is reasonable to extrapolate that eventually they will act as consultants and not controllers.

Now, I get why physicians have been untrusting sometimes of their patients to assist with managing their own health.  I’ve watched numerous patients nod along with what their doctors advise and then do the exact opposite.  But perhaps that is a product more of the system by which the patient receives the information and not necessarily their lack of competence of motivation.  Health information is still centralized in an increasingly decentralized world.

Perhaps then it is time for doctors to begin letting go of their role as gatekeeper and start accepting innovative ways for patients to empower themselves that don’t follow the existing healthcare model (which ironically most agree is broken).  The fact is that the difference between what a physician and their patients know about genetics right now isn’t that great compared to what we will know in the near future.

While I fully support the mission of the FDA (to keep us safe), their argument in this case is more based on the fact that 23andMe isn’t following “how the system works” instead of providing evidence how the company is potentially endangering people.  Let’s say a woman gets a positive result for one or two of the BRCA genes in her 23andMe test results, but it was actually a false-positive.  Her stress levels would skyrocket.  She would go see a doctor, they’d run additionally tests (most likely including another genetic test) and they would advise her that she actually has a higher or lower risk of developing breast and/or ovarian cancer based upon whether she had a family history of those cancers or not.  The next genetic test would most likely come back negative, and she and her doctor(s) would proceed as necessary.  Now let’s say she received that same false-positive result by going to the doctor’s office and getting the test done there.  The exact same thing would happen.  The woman cannot go down to the local surgery center and ask for a mastectomy or ovariectomy because of her 23andMe results.  The FDA thankfully doesn’t allow people to make those drastic decisions by themselves.  The main difference between these two cases is that the cost of the 23andMe test was probably cheaper than the physician ordered one.  The difference is not a matter of medical outcome.

So while I’m sure the FDA is mainly concerned about the fact that companies likes 23andMe seem to be operating in the grey area between general health awareness and medical advice, I don’t think saying they are concerned about people making bad decisions based on this information is a relevant complaint.  The FDA is completely justified in regulating the delivery of medical care, but do they really want to cross the bounds into regulating medical knowledge?  It seems a bit hypocritical that they are attacking a company that aims to enhance an individual’s understanding of how their body works yet neglect things like the supplement industry which have been shown to actually cause harm in some cases.  The supplement industry even claims to cure ailments which is something that genetic testing does not and cannot assert.

For those of us who have gotten over the whole “Information is power” thing, it seems a bit silly to watch people still cling to that world view.  We live in a world where teenagers can improve upon our diagnostic testing capabilities and we watch amazing things happen all the time by people who figure out new ways of looking at the world because we have the tools to analyze it.   It is no longer acceptable to withhold information to someone because you assume they won’t understand it.    Besides, isn’t a genetic test just a “second opinion” on what a patient is reporting for their medical and family history?  If the healthcare industry is serious about empowering patients, they need to actually let patients take some matters into their own hands.  Increasing a person’s understanding of who they are at a genetic level is a good first step.

Update: Just before this was scheduled to post, I came across an actual 23andMe customer’s account of a false-positive.  It is worth noting that after minutes of distress, this user was able to read through the technical documentation and discover that his result was in fact a false-positive.  He calmly e-mailed 23andMe and they responded a few days later confirming his analysis and apologizing.  The error has been fixed.  When a person gets a genetic test done through a doctor and then the results are filtered through a doctor, an error like this would not be caught.