personalized medicine

Concerned About DTC Test Quality? Ask Two Questions, Says Daryl Pritchard, PMC

We like talking to the folks at the Personalized Medicine Coalition (PMC). They have many stakeholders and multifaceted speakers on a wide range of topics. Recently they’re open to talking more about DTC testing—as are most of the traditional diagnostics community. (In our most popular program of the year, CEO of Invitae, Sean George said back in May that the clinical community must “coop” with the rapidly growing DTC movement.)

There are serious quality problems with DTC testing as many mainstream media outlets have confirmed in publication after publication. Today we ask Daryl Pritchard, Senior Vice President of Science Policy at PMC what he makes of the rapidly growing DTC testing industry, and how he thinks the problem of inconsistent results might be handled. Is this something for the FDA?

A core question of late for PMC by their stakeholders has been whether gene panels have shown cost effectiveness over one-off gene tests. Daryl discusses the results of a study he presented at ASCO this summer comparing the two.

We finish with a discussion of the state of personalized medicine mid-year 2018.

A Call to Consumers to Lead the Shift in Healthcare: Sharon Terry, Genetic Alliance

One of those attending the recent White House gathering where Obama announced the Precision Medicine Initiative was a woman who has worked tirelessly as a patient advocate for over twenty years. She’s an award winning scientist and the CEO of the Genetic Alliance: Sharon Terry joins us to kick off a new series, Personalized Medicine and the Consumerization of Healthcare.

Sharon was advocating for the sharing of patient data long before it became fashionable. Recently chairing the Institute of Medicine’s workshop and consensus study on data sharing and clinical trials, Sharon says that there has been a shift on the topic and that we are finally saying how do we share, not do we share.

“My desire is that we consumers—patients, participants, public—whatever word you want to use—that we understand how much power we have to shift the paradigm. Other industries have shifted—music, publishing, banking—because consumers demanded certain things,” she says in today’s interview. "I think we may have to be in the same position in health and medicine. It may have to come from us more than anywhere else. And then economies will be built around that sharing that right now don’t exist."

An Exciting Time for Mass Spec: Paul Beresford, Biodesix


Paul Beresford, VP of Bus Dev, Biodesix Bio and Contact Info

Listen (4:47) VeriStrat - a test for non-small cell lung cancer

Listen (4:39) What do you anticipate on the regulatory front?

Listen (6:01) Evolution of the Dx model away from cost plus

Listen (3:39) New legislation

Mass spectrometry has been a valuable research platform for many years. But clinical uptake of the technology has proved illusive. Until now.

In today’s program, Paul Beresford says that his company, Biodesix, out of Boulder, Colorado has been able to improve mass spec to a clinical, commercially viable level. The company already has a proteomics based test on the market, VeriStrat, a predictive and prognostic for non-small cell lung cancer. And this is just the beginning. Announcing a new round of funding this week, the company intends to use the platform for other cancers and tests.

Working for eight years at Ventana Medical Systems before his current stint at Biodesix, Paul offers a seasoned perspective on the challenges facing all diagnostics companies. Asked about how we as an industry can raise the value of diagnostics, Paul says that the “value-based play for diagnostics is actually getting better” and sees help on the horizon from Congress.

“Legislation is moving forward so that these [high value diagnostic] tests will essentially be priced through a market assessment versus Medicare just picking a price,” he says.

The Open Secret about the HER2 Assay with Jim Vaught


Jim Vaught, Editor-in-Chief, Biopreservation and Biobanking Journal Bio and Contact Info

Listen (6:50) The importance of better biosamples only recognized in the past 10 to 15 years

Listen (2:30) Is there still some convincing to do?

Listen (3:39) A new biospecimen science

Listen (6:55) The HER2 story

Listen (8:46) What can be done ?

Much of biomedical research is carried out on biospecimen samples. Yet the quality of samples used varies a great deal. This directly affects research outcomes for the worse.

Unfortunately, it’s become quite passé to say that a majority of biological research cannot be reproduced. This issue has been addressed recently by the head of the NIH, Francis Collins, and many others, and yet rarely do we hear that much of the problem is actually in the degradation of the samples studied.


Today we begin a new series Back to Basics: Improving Biospecimens, where we’ll look at some of the issues around biosamples. What is involved in sample collection? How do these issues affect drug development? What are we learning from the new science of sampling, and what can we do to raise standards?

To start us off, we’re joined by Jim Vaught, Editor in Chief of the Biopreservation and Biobanking Journal. Jim gives a great introduction to the topic of biosampling and offers a striking example, that of the HER2 assay, that demonstrates why we must bring more attention to improving biospecimens.

Podcast brought to you by: Quintiles - bringing people and knowledge together for a healthier world.

What Translational Gap? Michael Pishvaian on Advances in Tumor Profiling


Michael Pishvaian, Assistant Professor, Georgetown University; CMO, Perthera 

Bio and Contact Info

Listen (4:08) Untapped potential

Listen (6:24) What is the biggest challenge in the biomarker development process?

Listen (7:54) Taking personalized medicine to hospitals everywhere

Listen (5:30) Must do better in assessing value of personalized medicine

When we talk about personalized medicine, we often hear that doctors are out of touch with the latest research, particularly those not at major medical research universities. Not so, says Michael Pishvaian, researcher and doctor at Medstar Georgetown University Hospital.

Our first guest in a new series, "Democratizing Personalized Medicine: Advances in Tumor Profiling," Michael says that in the last two years the “retailization" of diagnostic tools has made personalized medicine for cancer available to all doctors.

Spending sixty percent of his time in research and forty percent seeing patients, Michael is involved in the entire flow of biomarker development, from discovery to patient care. His specialty is in GI cancers, where there is “an untapped potential for using biomarkers.” When Michael finds biomarkers that are useful to target a therapy, he’s immediately able to enroll his patients in a clinical trial.

But Michael works at a major research hospital. What about those doctors working in community hospitals?

Michael argues that all the new research on tumor biomarkers is being made available at the community hospital level.

“In just the last two to three years there has been a real explosion of retail diagnostic/molecular testing companies that have the capacity to give as much, if not more, genetic and molecular information about a patient’s tumor than can be found at any major institution,” he says.

Michael is the CMO for one such private company, Perthera, which is offering the latest in tumor profiling to doctors everywhere through their "virtual tumor board."

“I don’t think doctors are out of touch. . . . It’s not so much that they don’t have access or the knowledge base for personalized medicine. It really just has to do with time and effort and first hand experience to know how to put it all together,” he says.

U.K. Life Science Update with Eliot Forster, MedCity


Eliot Forster, Executive Chair, MedCity Bio and Contact Info

Listen (2:54) Cashing in on illustrious life science tradition

Listen (2:56) Culture of collaboration strong in the UK

Listen (5:01) A growing acceptance of GMOs

Listen (4:59) Did you ever think you would see American companies moving to the UK?

Listen (7:49) How goes the shift toward personalized medicine?

From Darwin's seminal work to the discovery of the structure of DNA to the 100K Genomes Project, the U.K. can boast of an illustrious life science tradition. Today, the U.K. government is backing a major push to cash in on that tradition, seeing life science business--from personalized medicine to genetic engineering—as a a major component of their new economy.

MedCity is a non-profit representing the life science community in London, Oxford, and Cambridge. Eliot Forster, Executive Chair of MedCity, joins us to give an update on the U.K.’s bio-economy. With support from the highest offices in government, the life science community there is benefiting from some important trends. Forster says there is a strong culture of collaboration and a regulatory and tax environment that is favoring more innovation.

Forster chuckles at the thought that some American companies are taking advantage of these new trends in England in the form of tax inversions. Thirty years ago, you wouldn't have predicted it, he says.

The commitment to biotech in the U.K. was on full display earlier this year when Prime Minister David Cameron created the new cabinet role of life sciences minister.

“If you’re looking to do work in the life sciences sector--whether a startup or a subsidiary of a major international—come to London, come to Oxford, come to Cambridge,” says Forster. "You’ll be very surprised by what you find, and pleasantly so."

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."

Bio-Sample Quality Matters! Carolyn Compton, ASU


Carolyn Compton, Professor of Pathology, ASU
Bio and Contact Info

Listen (5:40) Quality of biomarker data limited by quality of biospecimen

Listen (5:24) Degradation of samples

Listen (5:17) Are researchers concerned enough about the history of their samples?

Listen (5:38) What can researchers do about poor samples?

Listen (5:27) Raising awareness at the NCI

To begin our series Raising the Standards of Biomarker Development, it seemed fitting that we start with a crucial topic which affects the entire development chain for biomarkers--that of biospecimens. Carolyn Compton is a professor of pathology at Arizona State University and Johns Hopkins. And she has a message: The quality of bio-samples matters.

Carolyn says that issues around bio-sampling are quite overlooked by the research community, for there is often the assumption that "all samples are the same." Yet this is far from the truth. As a former clinical pathologist, Carolyn knows first hand how much samples can degrade from the time they're taken to when they are safely stored.

"Researchers will quality control the extracted biomolecules, and then they will measure them. But they never think about the quality of the sample and whether or not the measurements they're taking reflect the biology of the disease they're studying," she says in today's interview.

She's fond of the phrase we often hear from data scientists: "Garbage in, garbage out."

Why don't researchers consider the issues of sample degradation? Is it just too overwhelming? A pandora's box? And furthermore, what can a researcher do to improve a sample?

Carolyn is passionate about her message. She was recruited by the NCI to focus on the issue of sample quality and was able to raise awareness in that context. Better awareness is the beginning, she says, and there are things researchers can do.

Podcast brought to you by: National Biomarker Development Alliance - Collaboratively creating standards for end-to-end systems-based biomarker development—to advance precision medicine

Rare Disease Horizons, Part IV: Biobanking and Disease Registries with Liz Horn


Liz Horn, PhD, Patient Advocate Bio and Contact Info

Listen (8:22) What is biobanking?

Listen (4:05) Sample collection and the diagnostic odyssey

Listen (5:45) Security and privacy concerns

Listen (2:46) The bigger picture

Patients with rare diseases are constantly pestered with sample collection. Blood and tissue samples are required for many different kinds of testing, and often the specialist clinicians or researchers do not connect and share with each other. Biobanks are an emerging solution for aggregating patient samples for research. As Dr. Liz Horn says in this interview, biobanks and disease registries have become an invaluable resource for both patients and those treating and studying them.



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"Rare Disease Horizons: The Hope of New Research and Technology" is underwritten by the Rare Genomics Institute.