FDA


The FDA on LDT Draft Guidance Notice to Congress

Guests:

Liz Mansfield, Deputy Office Director of Personalized Medicine, OIR, FDA
Bio and Contact Info

Katie Serrano, Deputy Director of the Division of Chemistry and Toxicology, OIR, FDA
Bio and Contact Info

Listen (4:08) What was submitted to Congress?

Listen (5:09) Why is CLIA not enough?

Listen (4:07) Does the FDA have the resources for this?

Listen (5:54) How will risk be determined?

Listen (2:13) How will you approach panels and whole genome tests?

Listen (2:33) Is NIPT on your radar?

Listen (1:32) What about laboratory developed processes or LDPs?

Listen (1:19) What should labs be doing now?

On July 31, the FDA notified Congress that they will be publishing draft guidance for laboratory developed tests or LDTs.

This means the potential regulation of lots and lots more lab tests. Thousands of diagnostics for diseases like cancer or heart disease or a rare disease.

As with most actions of the FDA, this news has its fans and critics. There are those who feel that a hands off policy of the FDA has fostered innovation and better testing. And there are those who say that some of these tests carry such high risk that they should be regulated as a device or a therapeutic. In any case, others argue, the playing field should be level among test providers.

Here to walk us through what is happening and what will happen is Liz Mansfield and Katie Serrano, both from the Office of Invitro Diagnostics and Radiological health at the FDA.

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Can We Do DTC Genomics Right? Misha Angrist, Part II

Guest:

Misha Angrist, Author, Assoc. Professor, Duke Institute for Genomic Sciences

Bio and Contact Info

Listen (7:03) Presidential bioethics commissions do not have a good record

Listen (5:06) Questioning FDA priorities

Listen (4:31) Not the best arguments in FDA letter to 23andMe

Listen (3:26) Can we do DTC genomics right?

Listen (4:49) Thoughts on A Troublesome Inheritance

Listen (4:30) Self censorship

Today we continue with part two of our interview with Duke Assoc. Professor and author, Misha Angrist, mostly centered around the issue of regulating genomic medicine.

Misha questions recent FDA actions, such as the clamp down on 23andMe.

"I'm generally pretty hard on the FDA," he says.

Misha has a "complex view" about the FDA's letter last November to 23andMe. While he thinks 23andMe "dropped the ball" and went too far in interpreting consumers' genomic data, he also thinks the FDA used the wrong arguments in their letter ordering the DTC company to discontinue its health related testing.

He lauds 23andMe's hiring of Jill Hagenkord as CMO, saying that she "gets it."

We finish with Misha's response to Nick Wade's new book, A Troublesome Inheritance: Genes, Race, and Human History.

Editor's Note: Since this interview was recorded, the 23andMe blog put out an update saying that the FDA had accepted their submission for a new 510(k) application.

Podcast brought to you by: See your company name here. - Promote your organization by aligning it with today's latest trends.

Some Glimpses into the Challenges of Data Visualization Panel Event

Big Data might offer tremendous breakthroughs in healthcare and personalized medicine.  But with the new amounts of terabytes and petabytes flooding organizations today, old architectures aren't able to keep up.

Take the genome, for instance.  We know that there is a ton of valuable information in there.  But how does one go about looking at it?  Doctors have very little time as it is, and decision making becomes a burden becuase it takes days to get answers to questions, if at all.  And what about the opportunity to get genomic data to the lay person as 23andMe was doing?  

Training the Next Generation of Bioinformaticians: Russ Altman, Stanford

Guest:

Russ Altman, Dept Chair, Bioengineering, Stanford University

Bio and Contact Info

Listen (5:32) A bioinformatician bottleneck?

Listen (4:19) Does the engineer or coder have enough basic biology?

Listen (5:04) Have we been overly reductionist?

Listen (5:16) Beautiful but useless algorithms

Listen (4:13) New breakthroughs in natural language processing

Listen (3:39) A new regulatory science

For our last episode in the series, The Bioinformatician Bottleneck, we turned to someone who has not only done lots of bioinformatics projects (he's been lead investigator for the PharmGKB Knowledgebase) but also one who is training the next generation of bioinformaticians. Russ Altman is Director of the Biomedical Informatics program at Stanford. He's also an entertaining speaker who's comfortable with an enormous range of topics.

It's been some time since we had Russ to the program, so we had some catching up to do. What are his thoughts on the recent philosophy of science topics we've been discussing? Are the new biologists becoming mere technicians? What is meant by open data? Etc. He warns of being too black and white when it comes to reductionism or antireductionism. And agrees that the new biologist needs quite a bit of informatics training. But he's not worried that all bioinformaticians have to be better biologists, saying that there's a whole range of jobs out there.

What's Russ excited about in 2014? The increased ability to do natural language processing, he says.

"We have 25 million published abstracts that are freely available. So that's a lot of text. Increasingly we're having access to the full text and figures. I think we're near the point where we'll have an amazing capability to do very high fidelity interpretation of what's being said in these articles," he says in today's interview.

Russ finishes up by talking about a new West Coast FDA center in which he's involved. The center is focused on a program for a new emerging regulatory science, which he defines as the science needed to make good regulatory decisions.

"This area of regulatory science," he says, "has great opportunity to accelerate drug development and drug discovery."

I saw Russ at Stanford's Big Data conference after our interview and asked him at what age he decided against Hollywood and for going into a life of academia and science.

"Who says I did?" he retorted without hesitation.

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

Stefan Roever Talks the Future of Next Gen Sequencing

Guest:

Stefan Roever, CEO, Genia

Bio and Contact Info

Listen (7:34) Update on Genia technology

Listen (3:31) How will you compete with Illumina?

Listen (7:52) How will genomics scale in the clinic?

Listen (3:52) Encouraged to see nanopore sequencing now go commercial

Listen (3:26) Archaic regulatory environment holding back genomic medicine

Listen (5:10) Are you a believer in the DTC space?

Stefan Rover is the CEO of Genia Technologies, where he and his team are working on the next NGS technology. This space has become dominated by Illumina, who this year announced they had achieved the important benchmark of the "$1,000 genome." Stefan and Genia aim for the "$100 genome." In today's interview, we ask Stefan just what it will take for a new technology to break in to the sequencing market.

Beginning with an update on Genia's nanopore based sequencing, Stefan then goes on to talk about how NGS will scale in the clinic.

"Ultimately you don't want a doctor or the clinic to worry about how much does the instrument cost, how many reagents to order, and at what cost, etc," says Stefan. "All they want to do is provide a test and get an answer. And handling things like analysis in the cloud, or patient confidentiality, or integration with payer reimbursement systems---all of that is something that can be handled in a cloud service that can be integrated with the instrument."

Stefan says that the biggest challenge for genomic medicine is our regulatory system, which he calls "archaic." Speaking directly about the FDA's recent clamp down on 23andMe, he favors a system where there are competing regulatory agencies and where the market itself is allowed to raise the value of genomic tests.

Stefan says he's "absolutely" a believer in the DTC genomics space. Consumers own their genomic data and should be able to access it freely, he contends.

"The consumer should be able to go to any service they want and ask any question they want regarding their data."

The discussion about regulation with Stefan provides a preview into our upcoming series, Regulation and Genomic Medicine, where we'll be interviewing Cliff Reid of Complete Genomics, Anne Wojcicki of 23andMe, Alberto Gutierrez of the FDA, among others.

Today's Podcast is sponsored by Biotix - Makers of a Better Tip for Next Gen Sequencing. Find out how Biotix is setting a new standard in sample delivery here.

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

Guest:

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

Guest:

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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Commercializing Diagnostics: Building Value in a New World with Mark Trusheim

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

and by: Roche Molecular Systems,: A proud sponsor of today's podcast.

Guests:

Mark Trusheim, Founder, Co-Bio Consulting Bio and Contact Info

Listen (11:54) Science blossoming, but still a long ways to go

Listen (6:41) The economics of diagnostics

Listen (3:41) Why the indignation over Myriad gene patents?

Listen (5:11) Finding IP protection for innovative diagnostics

Listen (7:54) ACA a new opportunity for payers to improve misaligned incentives

Listen (7:10) From one-off tests to whole genome, proteome testing

Continuing our series Commercializing Diagnostics, we’re joined by an economist who has been the CEO for a diagnostics company and now consults. Mark Trusheim is the founder and president of Co-Bio Consulting and Executive in Residence and Visiting Scientist at the MIT Sloan School of Management. He’s also a Special Government Employee for the FDA’s Office of the Commissioner.

The world of diagnostics is in great flux. The science is blossoming and technology is evolving at lightning speed. Whole genome sequencing threatens to overtake "one-off" tests. Gene patents are up in the air and regulation is uneven between IVDs and LDTs. Furthermore, a new healthcare law, the ACA, offers payers new opportunities to address misaligned incentives in the practice of medicine. How does a diagnostic company create value with a test and then protect that value in such a changing landscape? Running longer than our typical 30 minutes, Mark's interview will put you on the front row of the diagnostics show.

Note: Today's show was recorded before the recent Supreme Court decision on gene patents.



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