genomic medicine


The FDA on LDT Draft Guidance Notice to Congress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On July 31, the FDA notified Congress that they will be publishing draft guidance for laboratory developed tests or LDTs.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.

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

Join Us Next Week for a Discussion about the Challenges of Data Visualization and Reporting in Genomic Medicine

Next Thursday, June 5th, Mendelspod teams up again with Chempetitive Group to bring you an evening of networking and a special panel discussion.

"Delivering Genomic Medicine: Challenges in Data Visualization and Reporting"

When:  Thursday, June 5th

   Networking:  5 30 pm

   Panel Discussion:  6 15 pm

Where:  Omicia Inc, 1625 Clay St, Oakland, CA  94612

Applauding FDA Action against 23andMe, Stanford's Hank Greely Calls for More Guidance on Genetic Testing

Guest:

Hank Greely, Professor of Law, Stanford

Bio and Contact Info

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.

Delivering Genomic Medicine: Challenges in Data Visualization and Reporting - Panel Event Set for June 5th in Oakland

Mendelspod and Chempetitive Group are pleased to team up and bring you another evening of networking with a panel discussion, "Delivering Genomic Medicine: Challenges in Data Visualization and Reporting." Join us after work in Oakland on Thursday, June 5th for drinks, bites and discussion.
 

Sample Prep for Clinical Sequencing with Sami Amr, Partners Center

Guest:

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

Bio and Contact Info

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.

The Whiplash Culture of DTC Genomics with Anne Wojcicki, 23andMe

Guest:

Anne Wojcicki, CEO, 23andMe

Bio and Contact Info

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.

Rare Disease Horizons: The Hope of New Research and Technology, Part I: Genomics with Dr. Eric Topol

Guests: Eric Topol, MD, Cardiologist, Genetic Researcher, and Technologist

Bio and Contact Info

Listen (4:55) DNA sequencing has come a long way since the Human Genome Project

Listen (5:01) How should patients know if they should get their genome sequenced?

Listen (3:29) What are the challenges to getting your genome sequenced and interpreted?

Listen (4:15) What hope does genomics offer to those with rare disease?

We start the series with a show about genomics, because this is often where a diagnosis begins--looking at the patient’s genome for causal mutations. Dr. Topol is a highly sought after expert who helps families with patients of a rare disease at the renowned Scripps Institute in La Jolla, CA. He’s also the author of a book, The Creative Destruction of Medicine, which describes the impact of new technologies such as DNA sequencing and mobile smartphones to change forever the practice of medicine.

                   

For more info, get the free eBook from Rare Genomics Institute

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

                            

 

 

Finding the Sweet Spot in Regulating Genomic Medicine

New technologies and the possibilities they bring to improve human life always come in fits and starts.

Genomic medicine is no exception.  The overdriven tools space of next generation sequencing has created a bursting spring season in genomics research.  New studies linking “this” biomarker with “that” phenotype bloom with a force of nature leading some to make bold predictions about man’s ability to conquer his own form.  We can smell eternity.

Cliff Reid on Regulation and Genomic Medicine

Guest:

Cliff Reid, CEO, Complete Genomics

Bio and Contact Info

Listen (3:55) What do you make of recent crackdown on genetic testing in China?

Listen (5:19) Self pay model better for health care

Listen (2:08) What is the right level of regulation?

Listen (5:22) A two-tiered approach to delivering genomic information

Listen (2:00) How has your focus changed since the buyout?

Listen (3:48) FDA regulation not the only way to raise quality of genomic testing

Listen (2:11) What's your reaction to Illumina announcement of $1,000 genome?

Listen (4:13) What is the cost for genome interpretation today?

In a recent blog, 5 Myths of Genomic Medicine, we quoted Cliff Reid, CEO of Complete Genomics, as saying that the mainstream adoption of genomic medicine might well happen first in a country outside the U.S. and very likely in China where there is more appetite for risk.

Well, a month ago or so, many of us were surprised to read that China is cracking down on genetic testing. So for our first show in a new series, Regulation and Genomic Medicine, we invited Cliff to come back on the program and tell us what he knows about the recent regulatory actions in China and how Complete's parent company, BGI, is responding.

What is the right level of regulation back here in the U.S.? And what is Cliff's reaction to the recent letter sent by the FDA to 23andMe stopping the sale of health related genomic information?

In his answers, Cliff hints at a possible two-tiered system for delivering genomic data: one avenue through the clinics that is regulated by the FDA, the other directly to consumers in a 'interpret the data on your own' kind of way.

What's are his thoughts on Illumina's claim to the $1,000 genome, and how costly is human genome interpretation today? Cliff is forthright, provocative, and prescient.

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



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