genetic testing


August 2017 Review with Nathan and Laura: CAR-T Cashes In, Embryos Edited in US, and the Invitae Incident

Back from summer vacation, Nathan and Laura are smoking hot as they look back over some exciting headlines.

The summer boiled over with plenty to talk about, but it was just this week that delivered most of the news for our discussion today. Novartis’ gene therapy based on CAR-T technology was approved Wednesday, making it the first gene therapy to be approved ever in the US. Analysts will be trying to figure out how high high is when it comes to the price tag, but Nathan and Laura explain why this therapy is a big deal for patients.

As for the first gene editing of embryos in the US that happened earlier in August? Nathan says, yes, it’s a first, but the big story is how "strikingly reliable the CRISPR edit is in germline vs the rest of the body."

Finally, we heard a few days ago that genetic testing provider, Invitae (recently featured here on the program) had sent out a large batch of false negative tests. Laura, a genetic counselor, says that in the absence of FDA regulation the system is operating on trust.

“And I want to say,” she adds, “ I trust Invitae. They’re a good lab, and I think they’re handling this well.”

 

Making Genetic Testing Mainstream Medicine with Sean George, Invitae

Invitae appointed their co-founder Sean George as CEO earlier this year. He joins us to share his bold vision for the field of genetic testing.

Sean mentions the word “scale” several times in today’s interview. Invitae was by no means the first on the scene, beginning in late 2013 (just after the Myriad Supreme Court decision), but with plenty of funding and talent they have sought to push the needle forward in a big way when it comes to genetic tests. The company has always exuded the message that there is all this valuable genetic information available now, and it’s just not getting to people who could benefit.

Sean says that this urgency is what drives him in a quest to “prevent unnecessary suffering that exists today by tearing down the barriers that are keeping this powerful and fundamental information from benefiting people’s lives.”

What are the barriers? Sean says cost is number one. That there are many out there who would buy genetic tests but can’t because of the price. In an age of astronomical drug prices, is it really that crucial to squeeze off a few dollars from a genetic test? And how does Sean and Invitae make the decision when to offer a test?

While Invitae has not gone the direct-to-consumer (DTC) route, Sean says they have a bit of a hybrid model where they market directly to consumers, but sell only into the clinic.

Sean agrees that the industry has had some “whiplash”, moving forward with excitement only to have big set backs. He says that in his company presentations, he likes to show two New York Times headlines:

The first goes, “10 Years after the Human Genome Project, What Does It Matter?” And the second headline taken from 1991: “Personal Computers: So Who Needs Them Anyway?”

Gene and Tonic, July 8, 2016: 49ers Going into Genetic Testing

Just two years at their new home in Silicon Valley and not far down the road from 23andMe, the San Francisco 49ers are offering their fans genetic testing and the chance to donate blood to advance human genome research.

Announcing a partnership with the company ORIG3N, the 49er Chief Operating Officer, Ethan Casson, says that “this is the first agreement of its kind where a major sports organization can give back to the human genome some of what the genome has given to professional football players.”

Gene and Tonic, June 21, 2016: Flatley, Herper, Knoepfler, and the Brexit

Flatley on His Way to Sainthood

Not yet out of the corner office at Illumina, CEO Jay Flatley was further canonized today by Business InsiderAs 35th on the list of the BI 100 Top Creators of Value, we learn that Jay created the market for genetic testing from scratch.  

And just in six days.

In Partnership with IBM’s Watson, Pathway Genomics Reinvents Itself

Direct-to-consumer (DTC) genetic testing has had a bumpy ride.

Back in 2010, Pathway Genomics and Walgreens made a deal to sell DTC genetic tests in thousands of Walgreens drugstores. Within 48 hours of the deal being announced, it collapsed. The FDA sent a letter to Pathway basically asking them what the hell they were doing. Walgreens quickly elected to put the kibosh on the partnership.

Since then, Pathway has reinvented itself as an “information technology company with a genetic testing lab on the side,” according to today's guest, Ardy Arianpour, Pathway’s Chief Commercial Officer.

Late last year Pathway announced a partnership to use IBM’s supercomputer, Watson, to power a new “killer app” called Panorama. This will be a “smart" app available later this year, Ardy says, that will incorporate data from wearables and biomedical literature (through Watson), and be able to recommend certain genetic tests that the company will offer.

However, this time Pathway is being more careful about selling the genetic tests. While the app will be available to every consumer, all genetic tests provided by Pathway must be ordered by a physician. The app becomes then really an educational tool for consumers which might lead them into discussions with their doctors. Ardy says Pathway is developing a separate app for physicians as well.

It's a new day for DTC genetic testing. The FDA just approved for the first time a DTC test offered by 23andMe. Might Pathway's Panorama app with accompanying tests find the right balance between protection of the consumer and the freedom to access our own genetic data?

ASHG 2014 in Review: Exhibitors Open the Kimono

The 64th annual meeting of the American Society of Human Genetics (ASHG) this week in San Diego, CA offered a glimpse into current progress in genetic testing. Not surprisingly, next generation sequencing (NGS) was omnipresent. In this blog entry, I highlight some interesting factoids ascertained while visiting select exhibitor booths.

Affymetrix:

The Lowdown on Adaptive Clinical Trials with Don Berry

Guest:

Don Berry, Prof of Statistics, MD Anderson Cancer Center
Bio and Contact Info

Listen (5:39) What is the goal of I-SPY trials?

Listen (8:31) Why were adaptive trials not introduced sooner?

Listen (4:34) What is the latest from I-SPY 2?

Listen (3:06) What about other cancers and diseases?

Listen (3:51) We have barely scratched the surface with biomarkers

Listen (2:34) Thoughts on genetic testing space

Listen (2:35) Trials of one?

The development of therapeutic drugs is a lengthy and costly process and too often ends in failure during clinical trials. So, understandably, there is much interest in improving clinical trial design to take into account the individual biology of trial participants. This more precise approach not only has great potential to improve the chance for the therapy to succeed, it provides better outcomes for patients in the trial.

The I-SPY trials are just such an approach. These national studies are designed to identify biomarkers predictive of response to various therapies throughout the treatment cycle for women with breast cancer. These trials are being called adaptive because there are changes in design throughout the trial based on an examination of accumulated data at various interim points in the trial. A patient may start with one therapy, but end up in the same trial with another therapy.

Don Berry is the founding head of the division for Quantitative Biosciences at MD Anderson Cancer Center. He is one of the principal designers of the I-SPY trials.

Are there trials in progress for cancers other than breast cancer? Will adaptive trials be broadly adopted? How can we develop better biomarkers?

Join us today in learning about this promising new approach to clinical trials directly from one of the principal architects.

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

Regulation Expert, Mya Thomae, Weighs In on FDA Letter to 23andMe

Guest:

Mya Thomae, Founder, CEO, Myraqa

Bio and Contact Info

Listen (3:10) This letter more specific than in the past

Listen (2:51) What did 23andMe file with the FDA in 2012?

Listen (4:57) Are genetic tests medical devices?

Listen (4:36) Going the regulatory route good for business and patients

Listen (6:02) What about freedom of information?

Listen (1:53) How are 23andMe results different from risk assessments using standard epidemiology?

Listen (5:34) Does the letter signal a more assertive FDA?

Listen (1:05) Why has 23andMe not stopped selling the product?

On Monday, November 25th, the FDA sent a letter to the direct-to-consumer genetic testing company, 23andMe. The letter has received a bit more attention than the average FDA correspondence. The letter was addressed to 23andMe CEO, Anne Wojcicki, and told her that the company’s Personal Genome Service was in violation of the Federal Food, Drug and Cosmetic Act. The FDA requested that the company “immediately discontinue marketing” the test until it receives authorization.

Since the letter came out, there has been much discussion in the life science industry and with the public at large. Some say the letter reveals an over reaching, paternalistic government agency trying to hold back the inevitable, while others see the opportunity for a turning point for a diagnostics industry.

Mya Thomae has been helping companies comply with FDA regulations for 20 years. Mya is intimate with how the FDA works and laments that the diagnostics industry, as opposed to the regulated therapeutics industry, has been on a "race to the bottom." She doesn't hesitate when asked whether the 23andMe test is a medical device.

"Genetic tests are certainly medical devices, and there's numerous examples of different types of genetic tests moving their way through FDA," she says.

The problem with 23andMe, Mya asserts, is that they "haven't done the hard core clinical trials to show that their algorithms do indeed work as they say." And she finds it unfair that 23andMe can keep selling their tests while at the same time some companies are doing the trials, are working with the FDA, and are putting in the time and effort to develop quality tests.

Speaking of the 23andMe website, Mya points out hat the results are constantly changing based on the latest research paper that has just come out.

"Some folks have referred to it as results roulette," she says.

Should 23andMe be treated different from her clients who are pursuing regulation?

"I think 23andMe is different, but I think it's different in the way that makes it a research project as opposed to a product that should be giving clinical results to patients," she says.

What about our right to obtain our own genetic information? And how are the 23andMe results different from checking your risk factor for heart disease against the Framingham studies at the NIH website?
Mya addresses these and other concerns which have risen in the media since the letter was published. She also explains that regulation will be good for business as well as patients.

Is the letter any different from previous FDA letters, and does it signal a more assertive FDA when it comes to LDTs? Mya says she's lost some bets already on when the FDA will regulate LDTs, but she does see a shift happening. At the end of the interview she refers to some final guidance the FDA issued on RUO (research use only) kits the same day the letter to 23andMe was posted. RUO kits and reagents are not allowed for use with diagnostic tests that are approved by the FDA.

We end with the question, why hasn't 23andMe stopped selling the product?

Editor's Note: On Dec 5, 2013 23andMe discontinued selling any health related reports in compliance with the FDA's request.

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



New to Mendelspod?

We advance life science research, connecting people and ideas.
Register here to receive our newsletter.

or skip signup