clinical genomics

They're LDPs not LDTs Argues Elaine Lyon of ARUP


Elaine Lyon, President, AMP; Director of Genetics Division, ARUP

Bio and Contact Info

Listen (5:53) How do you determine clinical validity?

Listen (5:41) Whole genome or exome?

Listen (5:41) LDPs not LDTs

Listen (5:40) Having both CLIA and FDA regulation too onerous

Listen (3:25) Not convinced that FDA cleared means a better test

Listen (2:32) Opting out of incidental findings

Elaine Lyon has become a key figure in genomic medicine. As the Medical Director of Molecular Genetics at ARUP Laboratories, she's at the bench developing clinically relevant genetic tests. Serving a term as President of AMP, or the Association for Molecular Pathology, she is a popular speaker on the diagnostics conference circuit and is certainly able to talk from an overall industry perspective. She joins us as part of our series Regulation and Genomic Medicine.

Beginning with questions about her work in the lab, the interview quickly moves on to Elaine's thoughts on regulation. Recently, Elaine co-authored a paper arguing that we should not be calling the tests laboratory developed tests, or LDTs, but rather laboratory developed processes, or LDPs. Her point is that the test is not the product, but rather the report that's delivered to the physician. She says we should be focusing on the process of genetic testing because a lot depends on the professionalism of the lab tech doing the test. As a process, Elaine continues her argument, the products are not actually in the domain of the FDA.

As guests have noted on this show before, the diagnostics industry has suffered from low quality testing. There are the three issues of analytic validity, clinical validity and clinical utility. It's been argued that regulation by the FDA can improve the quality of the testing. Elaine is doubtful of this argument.

"I am not convinced that simply having an FDA cleared test means it's a better test," she says.

She feels that more regulation is just too onerous. Rather than having two separate governmental regulatory bodies--CLIA and the FDA--examining and approving the testing, Elaine says that we should enhance CLIA.

Elaine warns that at a time when labs are not getting reimbursed like they used to, adding FDA regulation will increase the cost of genetic testing. This may mean that labs won't be able to offer these tests at a time when the technology is dramatically better.

We end with a discussion about the recommendations coming out of the recent ACMG meeting.

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

Dietrich Hauffe of QIAGEN on Clinical NGS


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)

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.”

Quality Is the Key, Says Veteran of Personalized Medicine

Guest: Dr. Larry Marton, Program Chair, PMWC

Bio and Contact Info

Chapters: (Advance the marker)

0:40 Building one of the first molecular diagnostics labs at UCSF

6:47 Where are we at with personalized medicine today?

11:27 What can we do to better quality assurance in the industry?

19:01 Using PMWC as a neutral place for dialogue between disparate groups

23:47 If you practice medicine better than the community, you can be in trouble

29:14 What can those in the industry do to better engage the medical community?

Our guest today has been focused on personalized medicine since before it was called that. Larry Marton is the former chair of the Department of Laboratory Medicine at UCSF. Helping to form the department back in the late 70's, Larry and his colleagues set out to transform a standard clinical laboratory into a place for cutting edge molecular research, a place where basic research could be done and translated into medical practice.

Today he's retired from UCSF, but "busier than ever before." He serves on various boards and is the program chair for the Personalized Medicine World Conference which takes place each January in Mountain View, CA. Anyone who has been to this conference knows the depth and breadth of Larry's contacts and influence in the industry. He says the PMWC is an important conference because it plays the role of "neutral broker" between the various stakeholders in the field: entrepreneurs, researchers, investors, regulators, physicians, and patients.

Larry's core message is that we must improve the quality of new clinical tests which have been translated from research. It is the key to demonstrating clinical relevance, he says. There are issues with sampling, with analytics, and with compliance. What can those in the industry do to better the quality assurance? And how can the industry better engage the medical community? A veteran shares his insights.

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."

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