Along with greater outcomes for patients, the movement now known as Personalized Medicine has also held great promise for new business.
In the winter of 2005-2006 (if we can call it winter in Silicon Valley) I was caught up in the hype and became a partner in a new start-up that was to offer all kinds of predictive genetic tests. We even secured the name ConsumerGenetics.com, a domain highly sought after at the time. There was to be a revolution in the way health was delivered to patients. In fact, we would bypass the doctor and go to the consumer with important health information. And best of all, the products weren’t regulated by the FDA. It was just a matter of setting up a lab, combing through the literature for the latest findings on specific genes which could predict the probability of certain disease, putting up a website, and we were in business.
This naivety landed me in a piece by Andrew Pollack of the New York Times entitled <a href=http://www.nytimes.com/2006/09/12/business/smallbusiness/12genetic.html?pagewanted=all" target="_blank">The Wide, Wild, World of Genetic Testing.
OK, so it turned out a bit more complicated than that.
In 2009 we got a letter from the FDA.
Consumer Genetics is offering a test that is a device under section 201(h) of the Federal Food, Drug, and Cosmetic Act (the Act), 21 U.S.C. 321(h) because it is intended for use in the diagnosis of disease or other conditions or in the cure, mitigation, treatment, or prevention of disease, or is intended to affect the structure or function of the body. . . You should be aware that FDA does not consider your device to be a Laboratory Developed Test because the test is not developed by and used in a single laboratory . . . You should take prompt action to respond to this letter.
Now the FDA has decided to regulate LDTs as well. This was the focus of a track last week at the Molecular Medicine Tri Conference in San Francisco. Though the FDA has decided to regulate the tests, they still have no draft guidance. Others from industry were on hand to debate the direction of the industry.
Speaking for the FDA was Elizabeth Mansfield, Director of the Personalized Medicine Staff in the Office of In Vitro Diagnostic Devices. Her first point: there has been a ‘loophole’ for LDTs or what used to be called “home brew” tests. It will be closed.
1 - There is no need for new rules. The FDA already has the authority to regulate LDTs. 2 - The goal is to adopt a transparent approach and seek to avoid any surprises. 3 - FDA doesn’t want to interrupt medicine. They will be more relaxed toward rare diseases. And in the case of emergencies such as bio threats, they will issue EUAs or Emergency Use Apps. 4 - There will be some type of registration and listing. 5 - High risk tests will be evaluated first. 6 - There may be new classifications. 7 - For now the FDA is using enforcement discretion.
“We don’t want lab testing to stop,” Dr. Mansfield assured the crowd.
There was some time for Q & A.
“No, but that’s ok,” he submitted.
Mansfield: Not many adverse events are reported for LDTs. Labs are not required to report. You’d be surprise at how few adverse events are reported.
Mansfield: Not a problem. We deal with new technology all the time.
Mansfield was followed up by Stephen Day, Director of Medical Affairs at Hologic. Day was determined to point out the inconsistencies in the current system. The FDA regulates what are known as ASR’s or Analyte Specific Reagents which are really the components for test kits. Labs have gotten away with passing their products off as ASRs for RUO (research use only) and not submitting them as IVDs (In Vitro Diagnostic kits).
There are also IP issues with LDTs, Day noted. A manufacturer cannot sell its test with multiple primers to a lab, yet if the lab goes ahead and develops their own primers, there is violation of a patent. Many labs feel a “damned if you do, damned if you don’t” frustration at the present.
Next up was Peter Kazon who consults for the ACLA (American Clinical Laboratory Association). Kazon confronted Mansfield and the FDA directly. He went over a couple bills that are presently before congress which both propose that LTDs come under CLIA guidance rather than FDA. And that if the FDA did continue with regulation, they did, in fact, need new rule making.
Under one bill before congress, HR 3207, labs would be required to register tests with CLIA. CLIA and the CMS could both prevent the tests from being offered. But, most importantly, said Kazon, there would be less impact on innovation. Companies would not be faced with the heavy regulatory burdens of the FDA.
I chatted with Dr. Stephen Little from one such company by the name of Qiagen after the session. Little and his colleagues at Qiagen know well the regulatory burden to launch tests. They go through the FDA for IVD approval. They have also found success working with pharma to offer CDx. They do not, however, offer any LDTs.
The final speaker on the track, Carol Berry, is a VP at Asuragen. Her company develops IVDs and LDTs side by side and has a CLIA certified lab. “Not all LDTs are equal,” she repeated during her presentation. Focused mainly on walking the audience through the ups and downs of developing a diagnostic, Berry didn’t offer an opinion about regulation other than to say that the CLIA process is extensive and thorough.
Will DTC (Direct to Consumer) tests be considered LDTs in future FDA guidance? Will products marked RUOs continue to be allowed on the market for clinical use? These and many other questions remain as companies continue to produce tests and hope to get around the FDA’s current policy of enforcement discretion.
. . that the use of LDTs has contributed to enhanced standards of medical care and that significant regulatory changes in this area could have negative effects on the public health.
Though there are still many questions about the future of LTDs, Dr. Mansfield does have answers. She has agreed tentatively to give an interview at mendelspod and reply to the issues brought up by the other speakers. It was too bad that the organizers at the TriCon didn’t have a panel at the end of the discussion where the speakers could go back and forth among each other and with the audience.
Consumer Genetics, the company I co-founded in 2006, is still around offering a simple prenatal gender test. I’m no longer involved.