genomic medicine

Guest:

Mara Aspinall, Founder, DxInsights

Bio and Contact Info

Listen (2:43) DxInsights and EPEMED

Listen (3:53) Diagnostics 5.0

Listen (2:43) International School of Biomedical Diagnostics

Listen (3:43) FDA Guidance on LDTs: the right time? the right move?

Listen (3:53) Angelina Jolie: a teaching moment

Listen (4:17) What translational gap?

Listen (1:56) Educating payers

You could call her Ms. Dx Education. Mara Aspinall has served as CEO of diagnostics companies big and small, but she’s also spent a great deal of time building a diagnostics community. Some of the early meetings of the Personalized Medicine Coalition took place in her home.

Recently Mara has stepped up her efforts in diagnostics education: that of the industry players, of physicians, and also of the next generation. She’s a co-founder of DxInsights, a new non-profit focused on better education that has already put on their first conference. DxInsights recently announced a partnership with EPEMED, or the European version of the Personalized Medicine Coalition, to create a new Knowledge Center. She is perhaps most proud of helping to create a new International School of Biomedical Diagnostics which has enrolled their first graduate students this year. This school is a first of its kind, pulling faculty expertise from various organizations in Southern Arizona as well as Dublin City University.

“We have medical school students requesting that sequencing--and what I call “Diagnostics 5.0”-- be a part of their curriculum, and it has not been,” she says in today’s interview.

Advertisement:

Mara is a supporter of the FDA’s recent move on LDTs, saying that the current system for diagnostics has not been working. She thinks new regulation that levels the playing field among the various players will help to spur business and innovation because it offers a more predictable path to market.

We end with her thoughts on physician and payer education.

Podcast brought to you by: Slone Partners - Premier talent. Delivered.

Guest:

Jonathan Brody, Assoc Professor of Surgery, Thomas Jefferson University

Listen (8:17) BRCA testing being used for pancreatic cancer as well

Listen (3:31) The Tennis Ball Bucket Challenge

Listen (6:25) Moving target science

Listen (7:23) A seamless infrastructure

Listen (5:03) Patient consent

Look for Jonathan Brody, a scientist at Thomas Jefferson University, on Google, and you’ll likely find a picture of doctors having buckets of tennis balls dropped on their heads.

Based obviously on viral “Ice Bucket Challenge,” the “Tennis Ball Bucket Challenge” was a way for Jonathan and his colleagues to bring awareness to the lack of funding for pancreatic cancer. Though the outlook for pancreatic cancer patients is much bleaker than for those with breast or prostate cancer, funding into pancreatic cancer research is much lower. Jonathan makes sense of the connection.

“Patients [with pancreatic cancer] just have time to get angry and put up a fight. They don’t have time like breast cancer patients,” Jonathan points out in today’s show. "You go to a breast cancer run, and there’s hundreds and hundreds of survivors. You go to a pancreatic [cancer] fundraiser, and it’s really sad when they say, everyone who’s a survivor raise your hand. You might be lucky if it’s a big event, if there’s a dozen or so.”

Based in the Department of Surgery at Thomas Jefferson University, Jonathan is in a unique situation working with physician scientists to translate findings in cancer research directly into patient care. It’s what he calls moving target science. He shares his dream that one day we’ll look at cancer as we used to look at bacterial infections: diagnosis and tailored treatment.

Guest:

David Haussler, Director, Center for Biomolecular Science and Engineering, UCSC
Bio and Contact Info

Listen (8:08) Paperwork not algorithms the biggest challenge with bioinformatics

Listen (7:01) With Amazon Cloud around are compute and storage still issues?

Listen (3:23) Global Alliance for Genomics and Health

Listen (5:05) What are the technical challenges yet to be tackled?

Listen (7:35) A global bioinformatics utility has to be an NGO

David Haussler and his team at UC Santa Cruz have gone from one large bioinformatics project to another. After creating the original Genome Browser (which still gets over 1 million hits per month), David worked to build a large data set for cancer genomics, The Cancer Genome Atlas.

“With more data comes statistical power,” David says in today’s show. “The only way we can separate out the “driver” mutations from the “passenger” mutations is to have a large sample of different cancers."

This makes sense. One needs millions of samples to see when a mutation is just random, or when it occurs with true statistical frequency. So what have been the challenges to building such a large data set?

David says issues around consent and privacy have actually held up his projects more than any technical difficulties. For example, the NIH has had several meetings for over a year now to determine whether their data can be put on the commercial cloud. In addition there are issues connecting large medical institutions around the country and various countries from around the world. David is a co-founder of the Global Alliance for Genomics and Health, which he says is nearing the tipping point of being THE bioinformatics utility that will be globally adopted.

In the days of commercial offerings such as Amazon Cloud, is compute and storage still a problem? And what, after the privacy issues are seen to, are the technical challenges for bioinformaticians like Haussler?

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

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.

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

Guest:

Hank Greely, Professor of Law, Stanford

Listen (5:00) What's the best argument for FDA regulation of genetic testing?

Listen (10:50) A health exceptionalist

Listen (7:06) What about a Consumer Reports for genetic testing?

Listen (5:05) A device or a report?

Listen (3:13) Tools in command

Listen (3:43) The genoscenti vs. the general public

Hank Greely is a law professor at Stanford who teaches a course on the FDA and keeps a close watch on the genomic revolution. Hank is concerned with the ethical, legal, and social implications of new biomedical technologies.

We're excited to have Hank join us as part of our series, Regulation and Genomic Medicine. He has developed one of the most clear voices on the question of whether the FDA should regulate genetic testing.

"The best argument for regulating 23andMe is that they're providing health information that is not very good," he starts out in today's interview.

We threw the best arguments against regulation that have come up in this series at Hank. For example, one researcher compared the state of bioinformatics and genome interpretation today with that of the early days of the computer. Was the computer good enough in the 80's, the researcher asked. No, but we still used it, he said.

Hank accepts this argument and agrees that the U.S. has been a more libertarian country than many countries around the world. But we make an exception for health, Hank says. Computers weren't used in the early days, he points out, for guiding cars through traffic.

But is the FDA being overly paternalistic? Are 23andMe's predictions really any different from using data from the Framingham studies?

"In health, I am much more paternalistic than I am with anything else," Hank says. When the information is of really weak power and dubious accuracy, I get still more paternalistic."

Hank is quick to point out that he's not for banning astrology, something that he calls "completely useless." He takes issue with the fact that 23andMe has sold itself as a health company.

"When something wraps itself in scientific and medical guise, and is presented as being scientifically correct, we have the right to demand that it actually is."

What about letting the market bring up the value of genetic testing on its own? Is a genetic test really a device or is it a report done by a professional? And are we doing too much sequencing for sequencing sake? Hank isn't one to avoid tough questions. At the same time, he doesn't deny that some truly impactful technology is here.

"I expect that within 10-15 years there's going to be whole genome sequences in the electronic medical records of most people in this country. If we learn to use them well, interpret them well, convey the information to the patients well, they hold real potential for improving public health. If we do it poorly, they could make things worse."

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

Guest:

Sami Amr, PhD, Director of the Sequencing Core, Partners HealthCare Center for Personalized Genetic Medicine (PCPGM)

Listen (8:30) How is NGS sample prep improving in clinical applications?

Listen (3:22) Will we get to a one-touch system?

Listen (5:12) Panel or exome?

Listen (4:12) Lab tech proficiency

To finish up our NGS 2014 series, we're joined by Sami Amr, Director of the Sequencing Core at Harvard's Partners Center. Sami and his colleagues are using NGS for ever more clinical applications. How must sample prep improve as genomics goes clinical? Will we ever get to a one-touch system? Which sequencing platform does Sami prefer? These are some of the questions the hands-on lab director addresses in today's 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.

Guest:

Anne Wojcicki, CEO, 23andMe

Listen (5:39) What was your personal reaction to the FDA letter?

Listen (5:34) What is the appropriate level of regulation?

Listen (3:30) Results roulette?

Listen (1:06) What is the path forward with the FDA?

Listen (4:17) How do you go about deciding next steps?

Listen (3:48) Audience: What about international options?

Anne Wojcicki is a fighter. Seen by many in our industry as a leader in delivering genomics to the masses, she now has a more complicated job as CEO of 23andMe.

On November 22 of last year, the FDA sent a letter to Anne and her team in Mountain View telling them to stop marketing their popular genetic testing service. It's a day, Anne says, she'll remember well.

In one of the few interviews she has given since the letter, Anne shares her reaction to it.

"There was a lot of shock. And I think it took a while to settle in to really understand what the implications of the letter were," she says at the top of the interview.

Though some see her as standing strong for the right of the average person to see their genomic profile, yet others in the industry feel Anne and her company are undermining the potential of personalized medicine by delivering an inferior product. Today we ask Anne just what she thinks is the appropriate level of regulation and what is her response to those who say that the 23andMe test is merely genetic "results roulette."

Confirming that the company is working diligently to comply with the requests of the FDA, Anne says she leans on a team that has become used to a "whiplash culture." And while she admits that the company could do a better job of labeling the product, she nevertheless asserts that the "current regulatory process was not ready for us." She's of the opinion that the company can again offer the health related testing.

Today's show reveals a CEO who remains undeterred in her mission while acknowledging a more complex way forward.

"This is not the simple path. It's a fight. And I'm really honored to be part of that fight and driving a change. But I have more headaches than I used to," she says at the conclusion.

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