FDA Crackdown on 23andMe Delays a Revolution in Medicine, Says Medical Geneticist, Gholson Lyon


Gholson Lyon, Assist. Professor, Coldspring Harbor

Bio and Contact Info

Listen (3:39) Why are you a fan of 23andMe?

Listen (4:58) What about the quality?

Listen (1:13) PGP limited in participation compared to 23andMe

Listen (11:45) Are you against regulation of CoDx or Rx?

Listen (4:29) Delaying the revolution

Listen (2:25) How do you envision the revolution?

About a week ago we featured a regulatory expert on the program explaining why the FDA's letter telling 23andMe to stop selling their PGS test is a good thing. Today we feature an outspoken fan of the DTC company, Gholson Lyon, medical geneticist at Cold Spring Harbor Laboratory.

Gholson is himself a happy customer of 23andMe, and says he's found the service invaluable. In 2011, Gholson led a team in the identification of a new rare genetic disease, Ogden Syndrome, which caused the death of a four month old Utah boy. At the time, Gholson did genetic tests on the boy's family, but was unable to return their results because the tests were not done in a CLIA laboratory. This led Gholson to become an advocate for doing genetic tests for research in a CLIA facility so that results might be returned to patients. Since the 23andMe service is done in a CLIA approved lab, Gholson found the company an excellent place to do genome wide testing.

But is CLIA regulation--which guarantees analytic validity--good enough for the kind of disease risk reports put out by 23andMe to their more than 500,000 customers? Gholson says yes. And regulating the tests further will cut out an important part of a new revolution in medicine.

Gholson acknowledges the diagnostics industry is attempting to bring up the quality of genetic tests, but says that industry companies are producing one-off tests done without the broader context of the genome. This is why he likes the 23andMe service.

"If you don't sequence or genotype the rest of there person's genome, then you have no knowledge about their ancestry and what population they come from. And so you really cannot predict the expression of a particular mutation in that person," he says in the interview.

Gholson also points out that by being a DTC company, 23andMe has been able to recruit many many more participants and data sets than a non-profit, such as the Personal Genome Project, of which he's also a member.

Just how far does Gholson go in his stance against regulation? And how does he envision this revolution in medicine?

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An Industrial Revolution of Digital Healthcare: Interview with Sultan Meghji


Sultan Meghji, Founder, Reformation Medicine

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Listen (4:20) The end of technology as a specialty

Listen (4:12) Sequencing devices still a bottleneck for clinical genomics

Listen (4:39) How to become a bioinformatician in six months

Listen (4:39) Basic scientists vs. technicians

Listen (8:19) Going through the Industrial Revolution of digital health

Listen (5:05) Do you think about bioethics?

Listen (4:49) Yes to regulation, and yes to access for everyone

Data scientists like Sultan Meghji are a highly valued species in today's world. Beginning his career at the National Center for Supercomputing Applications (NCSA) where he worked on original internet technologies, Sultan has used his expertise in several industries, including finance, air transportation, and now biotechnology.

We've had Sultan on for a couple shows already, and his broad experience and far reaching vision made him an obvious choice for our series, The Bioinformatician Bottleneck.

"We could graduate ten times what we're graduating every year for a decade, and I still wouldn't be convinced that we have enough [bioinformaticians]," he says in today's interview.

What to do about it? Sultan has suggestions, one of which is to have a "Khan Academy style program for How to Become a Bioinformatician in 6 Months." What about the years it takes to train great basic scientists in an age when biologists are already being called "mere technicians?" Sultan says technicians can handle much of the work of commercializing research.

Sultan goes on to suggest there are other important bottlenecks, including the sequencing tools space. Does he stop to think about bioethics? And is he for or against FDA regulation of personal genomic information? Today's show is far reaching and centered around Sultan's goal of bringing genomics to the masses.

"It's almost like the Industrial Revolution of digital healthcare," he says. "We're going to call it something else, but . . .at some point my blood, or some part of me, is going to go into a diagnostic black box, and out is going to come some recommendation that a doctor didn't actually look at. And I'm going to take it to the bank."

Podcast brought to you by: Roswell Park Cancer Insititute, dedicated to understanding, preventing and curing cancer for over 115 years.

Regulation Expert, Mya Thomae, Weighs In on FDA Letter to 23andMe


Mya Thomae, Founder, CEO, Myraqa

Bio and Contact Info

Listen (3:10) This letter more specific than in the past

Listen (2:51) What did 23andMe file with the FDA in 2012?

Listen (4:57) Are genetic tests medical devices?

Listen (4:36) Going the regulatory route good for business and patients

Listen (6:02) What about freedom of information?

Listen (1:53) How are 23andMe results different from risk assessments using standard epidemiology?

Listen (5:34) Does the letter signal a more assertive FDA?

Listen (1:05) Why has 23andMe not stopped selling the product?

On Monday, November 25th, the FDA sent a letter to the direct-to-consumer genetic testing company, 23andMe. The letter has received a bit more attention than the average FDA correspondence. The letter was addressed to 23andMe CEO, Anne Wojcicki, and told her that the company’s Personal Genome Service was in violation of the Federal Food, Drug and Cosmetic Act. The FDA requested that the company “immediately discontinue marketing” the test until it receives authorization.

Since the letter came out, there has been much discussion in the life science industry and with the public at large. Some say the letter reveals an over reaching, paternalistic government agency trying to hold back the inevitable, while others see the opportunity for a turning point for a diagnostics industry.

Mya Thomae has been helping companies comply with FDA regulations for 20 years. Mya is intimate with how the FDA works and laments that the diagnostics industry, as opposed to the regulated therapeutics industry, has been on a "race to the bottom." She doesn't hesitate when asked whether the 23andMe test is a medical device.

"Genetic tests are certainly medical devices, and there's numerous examples of different types of genetic tests moving their way through FDA," she says.

The problem with 23andMe, Mya asserts, is that they "haven't done the hard core clinical trials to show that their algorithms do indeed work as they say." And she finds it unfair that 23andMe can keep selling their tests while at the same time some companies are doing the trials, are working with the FDA, and are putting in the time and effort to develop quality tests.

Speaking of the 23andMe website, Mya points out hat the results are constantly changing based on the latest research paper that has just come out.

"Some folks have referred to it as results roulette," she says.

Should 23andMe be treated different from her clients who are pursuing regulation?

"I think 23andMe is different, but I think it's different in the way that makes it a research project as opposed to a product that should be giving clinical results to patients," she says.

What about our right to obtain our own genetic information? And how are the 23andMe results different from checking your risk factor for heart disease against the Framingham studies at the NIH website?
Mya addresses these and other concerns which have risen in the media since the letter was published. She also explains that regulation will be good for business as well as patients.

Is the letter any different from previous FDA letters, and does it signal a more assertive FDA when it comes to LDTs? Mya says she's lost some bets already on when the FDA will regulate LDTs, but she does see a shift happening. At the end of the interview she refers to some final guidance the FDA issued on RUO (research use only) kits the same day the letter to 23andMe was posted. RUO kits and reagents are not allowed for use with diagnostic tests that are approved by the FDA.

We end with the question, why hasn't 23andMe stopped selling the product?

Editor's Note: On Dec 5, 2013 23andMe discontinued selling any health related reports in compliance with the FDA's request.

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CoDx the Only Way Forward for Big Pharma: John Palma, Roche Molecular


John Palma, Director of Medical Affairs, Roche Molecular

Bio and Contact Info

Listen (6:54) On demonstrating clinical value of CoDx

Listen (4:45) What is the lead time for CoDx from discovery to market?

Listen (4:11) International considerations

Listen (4:38) CoDx the only way forward for big pharma

Listen (6:54) Are you seeing more companies opt for the CoDx way?

John Palma is the Director of Clinical and Scientific Affairs at Roche Molecular. His job is to demonstrate the clinical value of the companion diagnostics that are developed at Roche. In today's interview, John gives us a "view from the trenches."

How does his team decide when to move forward on a promising biomarker? What is the lead time for CoDx compared to Rx? What are the considerations in going international? What does success look like? John addresses some practical realities for those moving pharma in the direction of personalized medicine. Will a CoDx business strategy be able to save big pharma? John says it's the only way forward.

Podcast brought to you by: Myraqa Clinical Research: The CRO for Point of Care and PMA Diagnostics.

Is the Dx Industry Ready to Quit this Vicious Cycle? Asks Oncologist


Dan Hayes, Clinical Director, Breast Oncology Program, U of Michigan Cancer Center

Bio and Contact Info

Listen (4:27) A vicious cycle

Listen (3:07) Why don't we value Dx as we do Rx?

Listen (3:31) Three key terms for turning things around

Listen (5:05) CoDx a step forward, but regulation for all tests is needed

Listen (6:44) Have you seen more companies going the CoDx way?

Listen (3:21) A cultural problem?

Listen (5:49) The days of doing LDTs are past

Why aren't diagnostics valued as highly as therapeutics? Often a diagnostic or prognostic test such as the popular OncoTypeDx sold by Genomic Health can protect patients from undergoing unnecessary drug therapy. This saves money throughout the medical system and most importantly, the patient benefits. So why, when drugs often sell at tens of thousands, even hundreds of thousands of dollars per year, are the diagnostics sold so cheaply?

Dan Hayes is an oncologist at the University of Michigan Cancer Center. He's also the co-author on a recent paper, Breaking the Vicious Cycle. Specifically, Dan and his coauthors are addressing this value issue with tumor biomarker tests. But the paper is really a referendum on the diagnostics industry as a whole.

Dan and his colleagues say there is not one single problem, but that the industry is in a vicious cycle that leads to the undervaluing of the tests. In today's interview, Dan goes over the various "nodes" of the cycle (uneven regulation, reimbursement, publications, etc.) and articulates some of the practical suggestions for breaking the cycle.

Is the diagnostics industry ready to grow up and go the same route as the drug industry? It has to, Dan insists.

"The days of academic labs doing LDTs are past," he says.

Podcast brought to you by: Myraqa Clinical Research: The CRO for Point of Care and PMA Diagnostics.

The Fun Problems: Hank Greely Talks Bioethics

Guest: Hank Greely, Professor of Law, Stanford

Bio and Contact Info

Chapters: (Advance the marker)

0:39 What led you to bioethics?

3:51 Problems that can't have clean answers

7:27 How do you know when you're successful?

11:17 Informed consent, privacy

20:18 What is your definition for ethics?

25:35 Intentional selection/eugenics

30:02 Carefully drawn regulation will help the industry

The advance of biotechnology presents society with some thorny issues. And it's just these problems which Hank Greely, a law professor at Stanford, seeks out. In today's interview, Greely asserts that, as if it wasn't already tough enough pursuing the scientific problems, there are others which are hard in different ways.

"Some of these problems can't have clean answers where principles that we really care about generally are in conflict," he says. "The best you can do is look for less bad compromises."

What are Greely's ideas on incidental or secondary findings? On informed consent and privacy? On eugenics? What is his definition for ethics in general? What for many in the industry is a briar patch, Greely nimbly dances through with aplomb.

Podcast brought to you by: Chempetitive Group - "We love science. We love marketing. We love the idea of combining the two to make great things happen for your marketing communications."

Toward a New Paradigm in Regulating Diagnostics: Liz Mansfield, FDA


Liz Mansfield, Director of Personalized Medicine, OIVD, FDA

Bio and Contact Info

Listen (5:04) New report on personalized medicine

Listen (1:54) How is the FDA handling CoDx associated with breakthrough therapies?

Listen (1:52) Is the FDA open to seeing the use of POC tests as CoDx?

Listen (5:11) How much authority do you actually have?

Listen (3:10) Regulating whole genome tests

Listen (2:00) Are we headed to a world of CoRx?

Listen (5:35) Moving toward a new paradigm of diagnostics regulation

We're happy to have Liz Mansfield from the FDA to the program as part of our series on CoDx. Liz is Director of Personalized Medicine in the Office of In Vitro Diagnostics.

The symbiotic relationship between business and regulation has been part of our American history from the days of the railroads to the present age of genomic medicine. New technology is constantly presenting difficult questions to the public, opportunities for business, and challenges for regulators. For example, there are a slew of new point-of-care tests coming on the market. How open is the FDA to seeing these tests used as CoDx? And how is the regulatory body preparing to evaluate a test on 3 billion base pairs, a whole human genome. Some wonder if the FDA will lose its relevance in the genomic age when there are vast amounts of data floating around and a whole genome test is easily available.

In today's interview, Mansfield chips away at these questions with confidence and a certain amount of humility in the face of the coming technologies. Unable to say whether any company has yet sought approval on a whole genome test, she does say that the team at FDA is preparing for such time.

"We've seen this coming," she says. "Huge amounts of data can be drawn out of a single sample. And we've had to come up with a new paradigm for regulation where we're not to look at each individual measurement so closely. We're going to have to ask for representative measurements and trust those more than we have in the past."

Podcast brought to you by: Myraqa Clinical Research: The CRO for Point of Care and PMA Diagnostics.

Editor's Note: Our apologies for the static in the interview. Liz was on an internet phone at her office and there is slight interference. Also, since this show was published, the FDA cleared a Dx Assay on Illumina's MiSeq platform (Nov 20, 2013).

Disruption, Dissent, and Diversity at Burrill's PM Meeting

Last week Burrill and Co. put on their 9th annual Personalized Medicine Conference.  The Burrill meetings are known for straight talk on business matters, in depth panel discussions, working lunches, star speakers, and of course, Steve Burrill.  While this year’s meeting followed in that path, there was more diversity, more disagreement, more complexity. 

IPOs, and more IPOs

Burrill kicked off his usual state of the industry talk with a caveat that echoed throughout the show,  “healthcare doesn’t follow normal laws of economics.”

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