commercializing diagnostics


Rethinking Biomarker Development with Anna Barker

Guest:

Anna Barker, Co-Director, Complex Adaptive Systems Center, ASU

Bio and Contact Info

Listen (7:54) Have we been overly reductionist in the study of disease?

Listen (6:32) Applying new knowledge about complex adaptive systems to biomarker development

Listen (7:09) The National Biomarker Development Alliance

Listen (3:05) What do you think of the 'Snyderome' model?

Listen (5:44) Confident that FDA will regulate LDTs

Southern Arizona is emerging as a hotspot in the world of diagnostics. And one of the leading lights there is Anna Barker, who has been bringing folks together to think about biomarkers for a long time. As the former deputy director of the NCI, she assembled many different groups including the Nanotechnology Alliance for Cancer and The Cancer Genome Atlas (TCGC). She's now at Arizona State University where she co-directs the Complex Adaptive Systems Center and seeks to establish a new paradigm in the way we look at the biology of disease.

Beginning with some philosophy of biology, Anna takes us into her latest thinking on complex systems.

"We have to start thinking of a disease like cancer as a system," she says. "As you perturb one part of it, you perturb all of it. . . . We have to think more 3D."

Anna is someone who likes to go back to the basics, not only in the study of biology, but also in the business side of diagnostics.

In the interview she announces a new National Biomarker Development Alliance (NBDA) that is bringing a higher level of standardization to every phase of biomarker development. She argues that there are several decision points in the process, whether it's to validate an assay, or take it into commercial development. Right now, she says, the diagnostics community does not agree on the current standards for these decision points, or modules, and this is a problem. The aim of the Alliance is to bring the community together to agree on higher standards. The NBDA has just launched their website and is publishing their standards in an effort to better educate those developing diagnostics.

"We believe this approach will really enable us to develop biomarkers more predictably all the way through regulatory approval."

And what are Anna's thoughts on regulation? She says outright that the FDA is going to regulate LDTs.

Ms. Barker's vast experience and deep commitment to better science and better industry standards shine a light for anyone involved in translating biomarkers to the clinic.

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

And by: DxInsights: Presenting a Diagnostics Summit at the Miraval Institute May 4-6.

Dietrich Hauffe of QIAGEN on Clinical NGS

Guest:

Dietrich Hauffe, Sr. VP, Life Sciences, QIAGEN

Bio and Contact Info

Listen (3:26) What is the big vision for QIAGEN?

Listen (2:26) Business already 50 percent clinical

Listen (3:15) Will NGS replace PCR in clinic?

Listen (6:01) What can you tell us about the GeneReader?

Listen (4:38) Where are we at with genome interpretation?

Listen (5:11) How is QIAGEN's relationship with clinical labs evolving?

QIAGEN is a company on the move. Last year they picked up two bioinformatics platforms, CLC Bio and Ingenuity Systems. They bought Intelligent Biosystems the year before. That purchase was for a new next generation sequencing device. Called the GeneReader, this instrument has been designed specifically for clinical application.

Joining us today is Dietrich Hauffe, the Sr. Vice President of Life Sciences at QIAGEN. Dietrich discusses the GeneReader, which is currently being tested by select customers, and how it fits into QIAGEN's big vision for genomic medicine. The GeneReader offers clinical technicians the ability to do parallel sequencing and to have "random access" to many samples at the same time. The GeneReader will not be able to do whole genome or exome sequencing, however.

Dietrich says that the GeneReader, along with QIAGEN's broad existing product line of sample prep, PCR tests, companion diagnostics, bioinformatics offerings, puts QIAGEN in a unique position in the clinical market. By owning the entire workflow, QIAGEN is in a position to raise the quality and standards in clinical testing.

"We're very much liked for our universal approach," Dietrich says in the interview.

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.

Is this the Omics-to-Clinic Site We've All Been Waiting for?

Guest: Jonathan Hirsch, Founder, President, Syapse

Bio and Contact Info

Chapters: (Advance the marker)

0:50 Why is Syapse the right solution?

6:12 What are you providing that hasn't already been there?

12:50 "Versioning" and preparing for FDA approval

15:44 How are you driving adoption of your service?

20:30 Scaling with a configurable platform

22:00 When will we see clinical sequencers?

26:14 What does genomic medicine look like in five years?

28:02 A PCORI grant

There are roughly two types of bioinformatics site offerings, "infrastructure" and "analytical" solutions. In our first interview of the year we focus on a new company offering an infrastructure solution, one that covers the end-to-end flow of omics into the clinic. Jonathan Hirsch is the President and Founder of Syapse and says his company is providing some services that have not been available before, particularly in the area of clinical reporting.

Recipient of a recent PCORI (Patient Centered Outcomes Research Initiative) Grant that is funded by the new ACA, Syapse is already offering their services to diagnostics labs who need a solution for reporting to physicians.

"We're in a very interesting place," says Hirsch in today's interview, "where the physicians are actually driving the adoption of IT solutions. And that's the trend that we're playing off."

How will the site scale, and how does Hirsch see genomic medicine in five years? Join us as we begin the year looking deeply into the adoption of personalized medicine.

Note: Hirsch will join Mendelspod Host, Theral Timpson, on two panel discussions on bioinformatics infrastructure later this month:

Jan 28th: PMWC 2014, Mountain View, California at 10:45 am (see details)

Jan 30th: Evening Event at Tres Lounge in San Francisco at 5:00 pm (see details)

Inside the World of Prenatal Diagnostics: Charles Cantor, Sequenom

Guests:

Charles Cantor, PhD, Chief Scientific Officer, Sequenom

Bio and Contact Info

Listen (6:39) What led you to Sequenom?

Listen (3:08) What has been the biggest challenge in commercializing NIPT?

Listen (6:12) Sequenom view on patent controversy

Listen (6:33) How good is the quality of the tests?

Listen (2:48) Do you plan to submit tests to FDA?

Listen (5:25) Diagnosing cancer during pregnancy and the issue of incidental findings

Listen (2:44) Three improvements needed from sequencing tools

Listen (3:07) The possibilities of in-utero therapy

On October 17 of 2011, Sequenom announced a clinical study had been published in the journal of Genetics in Medicine on their new sequencing based prenatal test for Down Syndrome. On the same day, the company launched their MaterniT21test. The rapid clinical adoption of this test--and those from three competing companies -- is without a doubt the biggest success story for the use of DNA sequencing in the clinic. According to the Wall Street Journal, in 2012, Sequenom alone sold 61.000 tests.

Today Fortune ran a piece on non-invasive prenatal testing (NIPT) predicting "the adoption of NIPT across the board as a standard test for all pregnant mothers, something as routine as ultrasound."

What has been the biggest challenge in commercializing a test using DNA sequencing? Does Sequenom have plans to submit the test to the FDA for approval? Dr. Cantor is not shy about answering tough questions. In today's show he walks us through the challenges the company faces, including emerging ethical quandaries such as the question of reporting incidental findings and the new possibilities for in-utero therapy.

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.

Yale Genetic Counselor Weighs in on Myriad Case and More: Ellen Matloff

Guests:

Ellen Matloff, C.G.C., Director, Yale Cancer Genetic Counseling

Bio and Contact Info

Listen (5:05) Genetic counseling before the book was written

Listen (6:10) Myriad actions unprecedented

Listen (4:32) 30-40 % of all genetic tests ordered in error

Listen (5:12) Patents needed for business incentive?

Listen (3:09) Too few genetic counselors? Just Myriad propaganda

Listen (4:02) What is the Myriad database?

Listen (5:26) Why is the gene patent decision so personal for you?

Listen (2:32) DTC genomics not accurate, protected or helpful

When Ellen Matloff heard news of the recent Supreme Court decision invalidating some of Myriad's BRCA patents, she was overcome with tears. Tears of relief.

The first genetic counselor at Yale's School of Medicine, Ellen has had a front row seat to the long saga of gene patents, particularly the BRCA patents of Myriad Genetics. In today's interview Ellen recalls the days when the BRCA genes were first made known and explains the huge benefits the gene tests provided to her patients.

Then Myriad cracked down on their patents in a way Ellen calls "unprecedented" and "surreal."

Getting snubbed at every turn by Myriad--and then by her own peers for taking a position against gene patents has made this journey very personal for Ellen. Today she tells her view of gene patent history and gives her take on the burgeoning world of clinical genomics.

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."

Dietrich Stephan Hits the Refresh Button with SV Bio

Guests:

Dietrich Stephan, Founder, CEO, SV Bio Bio and Contact Info

Listen (5:24) What makes this the right time for SV Bio?

Listen (6:03) What does the SV Bio product look like?

Listen (2:38) Healthcare IT behind by several decades

Listen (6:52) How are you selling your product?

Listen (6:11) Whole genome pricing level still uncertain

Listen (5:02) The big ambition

On January 15th of this year a new company, Silicon Valley Biosystems, or SV Bio, was launched in the clinical genome interpretation space. And just this past week the company's lab gained CLIA certification. Founder and CEO, Dietrich Stephan was the creator several years back of Navigenics, a direct-to-consumer approach to personalized medicine. Navigenics was acquired by Life Technologies in the summer of last year. Stephan is quoted in Bio-It World as saying he “wanted to hit the refresh button and do the necessary inventing around rare variants now that the time is right.” Today he joins us to share his ambition for what he considers THE scalable platform and tell us why the time is right for SV Bio and genomic medicine.

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.

"Not about Owning Genes:" Diagnostics in the Wake of Gene Patent Ruling with Charles Mathews

Guests:

Charles Mathews, VP, Boston Healthcare Bio and Contact Info

Listen (3:51) Response to Myriad ruling

Listen (8:20) What is your number one message to your diagnostic clients?

Listen (9:16) Diagnostics model becoming more like pharma model

Listen (6:17) How can diagnostics startups be better focused on reimbursement from the beginning?

Listen (4:21) Are you seeing more whole genome testing?

Continuing our series, Commercializing Diagnostics, we speak with Charles Mathews, VP at Boston Healthcare. Specializing in reimbursement issues, Charles is a consultant for diagnostics companies. Recorded just hours after the Supreme Court handed down its unanimous decision invalidating Myriad's gene patents, the interview begins with a discussion on the case and what it means for the diagnostics industry.

Charles points out that while Myriad really paved the way in the industry, few diagnostics companies have been able to "carve out" such IP. In fact he sees a possible silver lining with the ruling, saying that it really matches the way the the science is headed, where there are fewer and fewer single markers and more next gen sequencing and multiplexing assays. These new tests with complex algorithms will be better in a world without individual gene patents, he argues.

Mathews' biggest message to his clients is that they must focus on reimbursement at the beginning. No longer is it about a single biomarker or new technology, but rather clinical efficacy. Evidence of clinical impact is much more important, he says, than hiring a host of IP lawyers. How can a start-up be better focused on reimbursement? And is he seeing more whole genome testing? These are questions Charles faces each day.

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.

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.

In ASCO Speech, Hamburg Hints of Change to LDT Regulation

Is the FDA going to go through with the much anticipated crack down on LDTs?

In a posting at Forbes, Science and Medicine Reporter, Matthew Herper, quotes FDA Commissioner Hamburg with the following:

Revaluing Diagnostics with Alan Wright, Roche Diagnostics

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

And by: BioConference Live: Register for free to the upcoming online Clinical Diagnostics Conference May 29-31.

Guests:

Alan Wright, MD, Chief Medical Officer, Roche Diagnostics Bio and Contact Info

Listen (9:05) Why do you think diagnostics are undervalued?

Listen (5:46) How are you going about raising the value for Dx?

Listen (8:20) Are the payers proving willing partners?

Listen (5:15) Society has two big decisions to make regarding Dx

Listen (2:53) How does patentability play into the difference between Rx and Dx?

There is an un-level playing field in the world of in vitro diagnostics. First of all, they are valued much lower than a therapeutic despite the amount of research and development that goes into refining a great diagnostic. Second, regulation is all over the board. A diagnostic may or may not be approved by the FDA. Something has to be done to level off this field if we are to see important innovation and the promise of personalized medicine fulfilled.

At least, that's the way our guest for today sees it. Alan Wright is the new Chief Medical Officer for Roche Diagnostics and he address an issue with which Roche has long been struggling. Alan is the former Chief Scientific officer for Caremark and so has a unique perspective from the developer and the payer's points of view. What is entailed in raising the value of diagnostics is the thrust of today's show.



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