Is DTC good for the Consumer? Part 2: LDTs

In the wake of the Myraid Genetics ruling, the doors opened for more companies to commercialize genetic tests and it finally happened--crowd funding of a genetic testing company.  Specifically a Direct to Consumer (DTC) genetic testing company.  See this article and this website.  For a mere $99 you can have your genotyping run to determine which medications may work best for your genetic metabolism issues.  But can you trust the results?

One of my first blog posts was about direct to consumer testing and the perils it poses when this information is used without a clinician's oversight.  That is just part of my issue with DTC testing. So far, the FDA has been rather wishy washy about regulating "lab developed tests," known as LDTs, for genetic testing.  This means that every lab can develop their own genetic test protocol--no standardization and no FDA oversight.

Now there is the College of American Pathologists (CAP) and Clinical Laboratory Improvements Amendments (CLIA) and they are supposed to be the governing bodies for LDTs, but why not make each test get FDA approval?  Especially if, as Genome Liberty advocates, we should be acting upon the information gained from a DTC LDT.  Would you want the device that gives you a blood sugar reading to be based on a LDT with no standardization or oversight?

Some will argue this will limit competition as FDA approval is expensive--so many of these pop up DTC labs would disappear and the cost of genetic testing will rise. Good, they should.  In my opinion, LDTs should be regulated by the FDA and should rise to the level of scrutiny you would expect from a lab test where clinicians rely on the results to make patient decisions.  Where consumers rely on the results to make lifestyle changes.

On June 5, 2013, the FDA Commissioner Margaret Hamburg probably said it best: Hamburg warned that "advanced diagnostics to make critical, potentially life-altering treatment decisions exposes patients to obvious risks if these tests do not perform as expected," and "false results put patients at risk for a mis-diagnosis or a wrong diagnosis that could result in inappropriate treatment or no treatment at all."

1.  BRCA testing can identify high risk breast cancer patients, so when a woman makes the agonizing decision to remove her breasts because she has done BRCA testing, THAT TEST BETTER BE RIGHT!

2.  Genetic tests are available to determine metabolism of certain blood thinners, but if the dose is too low you could get a blood clot (stroke) and it can cause hemorrhages if the dose is too high, so when a doctor decides to alter your initial dose of a blood thinner because your genetic test says your metabolism is different from normal, THAT TEST BETTER BE RIGHT!

3.  Codeine is metabolized into morphine and high doses of morphine can be lethal to a child, so when a child is given the normal dose of codeine for pain management because their genetic test says they are a normal metabolizer, THAT TEST BETTER BE RIGHT!!!

You have no way of knowing the level of experience and education of the person developing the LDT, the quality control standards used to verify test accuracy and repeatability or the overall reliability of LDTs.  I propose a higher level of standardization and oversight.  If a company stands behind its LDTs, they should have no problem getting FDA approval.

Instead of bemoaning that FDA approval slows down innovation, the FDA should come up with a way to categorize risk and streamline the approval process.  Faster innovation isn't always better innovation.  Quality over quantity.

Off soapbox now!
-Christina