Yesterday, the nerd interwebs exploded with news of the FDA’s Warning Letter to 23andMe.

For those of you reading this blog for the first time, hiiiii!   You can check out my back story about BRCA here.  For those of you who know me, you probably realize how I’m at the edge of my seat watching this story because this opens up a really fascinating discussion about direct-to-consumer genetic testing services.  So for anyone who isn’t yet up-to-speed, here’s a quick recap of the letter:

• 23andMe received a warning letter from the FDA saying that they need to shut down their services in 15 days, if they don’t address specific concerns.
• One of the main concerns of the FDA: if 23andMe accidentally gave women false positive results or false negative results…”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.”
• Other concerns include:  If patients will self-manage medication intake (such as Warfarin) without consulting a doctor, they will end up hurting themselves.
• 23andMe was given ample time and notice from the FDA to resolve these concerns: including 14 face-to-face meetings, and hundreds of email exchanges about data and messaging needed to correct concerns.  23andMe simply stopped responding to the FDA 6 months ago!  The meetings and emails specifically requested data from 23andMe about the accuracy of 23andMe’s claims, backed by data they use for their tests.  More on that later….
  

Reactions to the FDA warning letter have been really fascinating and varied.  Here is a great list of articles and posts if you want to read more.  Here are my thoughts, from the perspective of a Previvor.

• Is 23andMe the first place to go if you have a strong family history of breast or ovarian cancer and want to take a genetic test?  Noooooo, the first place to go is your doctor so you can talk to a genetic counselor!   If you are really still clueless about all of this genetic testing for breast cancer,  call this number.  They will help you get a clue.  Now that we have this out of the way…..
• Can women who receive positive BRCA results be harmed by 23andMe?  If the FDA’s concern is really that women are going to undergo an unnecessary mastectomy because of 23andMe results, I would like to offer a little perspective.  Insurance companies typically won’t cover prophylactic surgery without verified clinical test results – and women aren’t running to their nearest breast surgeon to have ‘unnecessary’ removal of their breasts because of 23andMe.  Patients are smart enough to follow-up with a doctor to verify the results and seek advice – and what we actually see is incredible barriers to getting genetic testing covered by insurance.   Want a real-world example of what happens when you test positive for BRCA through direct-to-consumer genetic testing?  Here is the story of my friend Galia, who tested positive for BRCA through 23andMe.  After she tested positive, she was smart enough to do her research and verify the results she received in consultation with an oncologist before taking medical action.  I don’t think the FDA needs to save Galia or others like her from 23andMe.  What 23andMe needs to do is make genetic counseling services available through partners for anyone who tests positive for a harmful mutation.  Insurance companies need to cover genetic counseling.  This is a must and they aren’t doing this today.  Problem solved!

• Yes, false negative results for BRCA could cause harm.  I tried out 23andMe this year to see if I would test positive, and I wasn’t surprised to find that 23andMe results for BRCA were negative because my mutation isn’t one of the three variants that 23andMe is allowed to test.  I say this with respect, because I think they do a pretty decent job of outlining the caveats to that part of the test.  Yes, people who are dumb enough not to read the warning on that part of the test may get a false sense of security.  We fix that by making the warning a little bolder, in red, with flashing lights around it.  Problem solved!

• We’re ignoring the bigger issue! The real reason 23andMe can’t test for my mutation is the company who formerly held a patent on BRCA1 and BRCA2 still has a proprietary database of our genetic mutations, and they aren’t sharing it with anyone!  We need to fix THIS.  We need for the government to help us figure out how data can be shared rather than be treated as a trade secret.  We need to figure out how that data can be shared ethically, in a way that provides ownership to the patient.  This is the root of the false-negative problem.  Not sure you have your head around it?  Check out this quick clip of what happened since the Supreme Court overturned the patents on BRCA1 and BRCA2:

At least 23andMe gives us our damn data…unlike the shitbags at Myriad!!!  Want to do something about it right now?  Go here.

This morning I asked a few really smart people who prefer not to be named why 23andMe withheld data from the FDA.  The answer I received made my head spin!  I’m starting to see the coming tsunami of health data/technology emerging, and the ethical issues we need to tackle in order to make this information helpful for patients.  I see our brave community of Previvors at the epicenter of a lot of big changes at the intersection of technology and medicine.  And those changes will mean that we will really have the chance to find better options to screen for, treat, and live long and happy cancer-free lives even though we have BRCA mutations.  But to get there we have to answer a bunch of hairy ethical questions, and we need to speak up as a community.  Buckle your seatbelts, ladies….you thought Myriad Genetics was interesting?  It’s gonna be a bumpy ride for a while!!!