genomic medicine


What Does the Election Mean for Genomics? November 2016 with Nathan and Laura

While everyone is asking what will become of Obamacare, we ask our regular commentators, Nathan Pearson and Laura Hercher, specifically about genomics and medicine.

Nathan begins by saying that data scientists everywhere should be humbled. Does the failure to predict the election send out warnings about big data predictions in genomics?

Laura points out that Obamacare covers many of the new genetic tests which have become available in the past decade, such as screening tests for hereditary breast and ovarian cancer syndrome and lynch syndrome. Coverage for these tests is now up in the air.

"It is cruelly absurd to talk about the value to the human race of identifying the people with these syndromes if we don't then give them the ability to act on the information," she says.

No matter what happens to Obamacare, isn't there bipartisan support for genetic testing and for research funding? (See the passage yesterday of the 21st Century Cures Act.)

Both Nathan and Laura agree that genomic medicine will continue apace. However, they worry that under a Trump administration the less fortunate will become even more vulnerable and have less access to improvements in healthcare. They point to an area of testing that is already highly politicized: prenatal screening. Will women lose access to testing in an era that reverses gains made in women's reproductive rights?

We finish with a local election in the Florida Keyes where residents approved the use of Oxitec's genetically modified mosquitos. Fear, Laura points out, can quickly change suspicion into acceptance.

Can You Name the World’s Largest Single Disease Research Charity?

Let’s take a break from the US and head over to the UK, home of the world’s largest single disease medical research charity.

Cancer Research UK (CRUK) raises five hundred million pounds a year for research and drug discovery into any and all of the two hundred plus types of cancer. The charity is extremely well integrated into U.K. culture, and uniquely English in that the donations are mostly small and come from all corners of society. A third of CRUK’s funding comes from donations averaging £10 or less.

Allan Jordan is head of chemistry for the drug discovery unit of CRUK. On today’s show he says that the democratic funding of the charity gives them a great deal of flexibility to do early stage drug discovery. Whereas a big pharma or biotech has to devote their resources to limited assets, or drugs, CRUK is able to spend more on basic biology research and follow the science into any type or cancer or multiple cancers.

There are very few conditions,” says Allan about his drug discovery unit in Manchester. "We don’t have to be specific about any particular disease area; we don’t have to be experts in one disease at the expense of all others. We can tap into that UK-wide expertise and network that can help us understand the biology.”

How is the charity working with the UK's national healthcare system? And does Allan hear the same kind of skepticism that we hear in the U.S. about precision medicine in oncology?

October 2016 with Nathan and Laura

Today’s show was recorded on Halloween, which now feels so yesterday. Forgive us for some spookiness.

What doesn’t feel so yesterday is the launch this past month of Helix, a company spun out of Illumina that aims to add exomes to the lineup of direct-to-consumer testing. Nathan points out their model for delivering data incrementally through various apps. Laura questions how Helix will vet the apps.

This month the genomics community gathered in Vancouver for the annual American Society for Human Genetics conference. The commentators give their highlights. Then we double back on a genetic counseling conference from last month and a big topic that we missed in our last show: population screening for BRCA.

It’s a bird, it’s a plane, it’s a turducken gone crazy. . . . . No, actually, says Nathan, “it’s a virus inside a spider costume for Halloween inside a bacterium inside a fly!"

We’re Over Halfway There: Baylor's Richard Gibbs on Clinical Genetics

There’s a basic assumption in our field today that has been around for some time. We think of medicine as on a direct and even continuum with science. That discoveries in genomics, for example, will lead directly to breakthroughs in medicine. But the breakthroughs on the medical side have been much more rare to date than those coming from the study of biology and genomics.

Richard Gibbs is the Founder of the renowned Genome Sequencing Center at Baylor College of Medicine. He and his team were one of five worldwide sites contributing to the Human Genome Project (HGP). In today’s interview we find out what the sequencing pioneer has been up to since the days of the HGP and what his take is for how well genetic science is translating into clinical care.

In fact, Richard is willing to put a number on how far we’ve come.

“There’s a trajectory that began just about the time the Human Genome Project was being conceived through to this futuristic image of medical genomics where complete genomes are actually part of medical care,” he says. "That journey is not yet complete. We are somewhere between 50 and 90% there.”

Richard says that the HGP was actually a departure from what was typical in the field of human genetics. That it was a science project done more purely for the sake of science. Most of the history of human genetics research has been practical medical or clinical projects.

One of the areas where Richard’s team has made a big impact is in collaboration with the NHGRI's Center for Mendelian Diseases. The team is also participating heavily with the NIH’s Undiagnosed Disease Network. What is the difference between a Mendelian and a rare disease? What are the center’s solve rates for each of those areas?

We round out the discussion with a look at how Richard and his team get the 'best quality genomes' for their projects, an issue of utmost importance in the clinic.

With FDA Guidance on LDTs Still Not Out, What Are Labs Doing?

As we get closer to the election and the end of 2016, the debate over LDT regulation has gone quiet. At this time last year, there was one hearing after another, first in the Senate, then in the House. The FDA’s Jeffrey Shuren was called before congress and drilled over the nuances of the guidance as well as asked when it would be released. He said, in the first half of 2016.

Though there has been no guidance released, the FDA has continued sending letters out to individual labs, requesting certain LDTs be approved before the labs market them. In March of this year, the FDA put a couple labs and two Texas hospitals on notice that were marketing “high risk” unregulated diagnostics. This surprised many in the laboratory community. These tests were diagnostics to detect the Zika virus, and any delay could negatively impact public health. The FDA told the labs they expected them to submit a request for emergency authorization (EUA).

So what are labs across the country doing? What are they supposed to be doing? Are they shying away from developing new LDTs? Are they proactively working to develop 'clinical validity’ for their tests, something they haven’t had to do under CLIA (the current regulatory statue for labs), but would be required to pursue by the FDA?

Some lab directors, such as today’s guest, say they haven’t changed a thing and are in “wait and see” mode. John Longshore is the Director of Molecular Pathology for the Carolinas Pathology Group and Carolinas HeathCare System, an integrated health network with more than 40 hospitals. He’s optimistic that laboratories are being heard on Capitol Hill and that it won't come down to FDA guidance. Referring to a recent Senate HELP meeting in September 2016 on the topic of LDTs, he says he's confident "that we will have regulation through congressional legislation rather than FDA guidance.”

The debate continues . .

Erica Ramos on Her Pioneering Role as Genetic Counselor for Industry

For the next installment of our series on genetic counseling, we’re joined by Erica Ramos. She’s the president-elect of the National Society of Genetic Counselors and was the second genetic counselor hired at Illumina where she’s been for four years. Illumina now has 15 genetic counselors.

Erica has been a trail blazer throughout her career. Before joining Illumina, she was the first ‘cancer counselor’ in the city of Las Vegas, Nevada. Her time at Illumina has been a prime example of the evolving role of the industry counselor.

“Genetic Counselors are starting to be recognized more and more as experts in bridging gaps between physicians and researchers, patients and physicians, and now even companies and their customers,” she says at the outset of today’s interview.

When asked about the tension between the commercial pressure from her company to sell tests and the actual needs of the patients, Erica says Illumina wants to sell the right tests and she quotes Illumina’s new CEO, Francis de Souza: “sometimes you need to go slow before you can go fast.” Erica says that it’s good for business to engage the genetic counselor early on in product development so that the right product is chosen.

We finish the interview with a preview of the upcoming National Society for Genetic Counselor's annual education conference, Sept 28 to Oct 1 in Seattle, Washington.

10 Genomics Questions for the Presidential Candidates

ScienceDebate.org has just released 20 science questions for the presidential contenders.  We thought we'd send in our own list of 10 genomics related questions.  Here they are:

 

1.  Will you get your genome sequenced, and 

   A.  Donald, will you show us what percentage of Neanderthal you have?

   B.  Hillary, will you show us the variants you keep on your private home server?

 

2.  If Obama could be cloned, should his clone be able to run for another term?

 

3.  Which of the following would make the best Moonshot:

A Maniacal Commitment to Science: Peering into Regeneron’s Genetics Center with Jeff Reid

Today we feature a pharma company that has been around for some time but recently getting more media coverage for the impressive scale of their new genetic center. Regeneron Pharmaceuticals, insiders joke, has been an overnight success that took 25 years.

One might think every big pharma company has their own genetic center for internal R & D. But today’s guest, Jeff Reid, Executive Director of Genome Informatics at the Regeneron Genetic Center (RGC), says that actually deep genetic research is often outsourced.

In just two years, the RGC has built an impressive sequencing lab and announced large partnerships with healthcare systems and academic centers that rival major government projects. One such collaboration with Geisinger Health System involves the sequencing of 100,000 genomes. Already, the RGC has sequenced over 100,000 exomes and has plans to sequence 500,000.

“What we’re doing is quite different,” says Jeff. "We are envisioned as a large scale academic genome center embedded in a pharma company."

Jeff says the strategy is to not only go wide with studies of large numbers of patients for the purpose of finding very rare variants, but to go deep as well. Big numbers can be distracting, he points out, saying that some times they get more insight off a small project, such as the treatment of children with a rare genetic disease.

“There are strategies all across the spectrum of project size,” he says.

Set up in an age when compute and data storage are no longer an issue, the RGC has become the first large scale genetic center to be entirely in the cloud. What is the major informatics challenge for Jeff and the center? And what does having such a large scale genome center mean about Regeneron and where we are today with genomic medicine?

The Days of Miracle and Wonder: Laura Hercher on Genetic Counseling, Part 2

We often hear at conferences that there are too few genetic counselors. And that this bottleneck is constraining the delivery and promise of genomic medicine. Is this true?

It is 100% true, says Laura Hercher of Sarah Lawrence College in the second part of our interview on genetic counseling.

“We graduate just under 300 genetic counselors a year. And last year at our annual meeting [National Society of Genetic Counselors], there were posted over 600 jobs. We’re producing jobs at a much greater rate than we’re producing counselors.”

The interview moves to a broader discussion about how society goes about keeping up with the increasing amount and power of genomic technologies, such as new gene editing techniques. Laura reads an excerpt of her recent piece at the DNAExchange.com

“There is no simple solution to this, but the battle begins with how we define ‘we’. Genetics needs to remind us of what we share as often as it tells us how we are different. Many of you are out there every day fighting battles you may not recognize as part of a larger war: battling insurance companies for access, battling to bring diversity to our biobanks and clinical trials, supporting a new vision of family, in which our 99.9% shared DNA is enough, and we are not defined by the fraction that is identical by descent. We are educators in a field that is an agent of change, and so it falls to us to work for an ever more expansive and inclusive definition of ‘we’. Without that, we risk that the amazing technology of the genomic age will be perverted into a tool for doubling down on the things that divide us.

These are the days of miracles and wonder

This is the long distance call

The way the camera follows us in slo-mo

The way we look to us all

The way we look to a distant constellation

That’s dying in a corner of the sky

These are the days of miracle and wonder

And don’t cry baby don’t cry

Don’t cry

The Days of Miracle and Wonder: Laura Hercher on Genetic Counseling, Part 1

They’ve been called the “unsung heroes” of our age. They are primarily women. And when the trend for most of us is to become specialists, they have been generalists.

Today we begin a special series on genetic counselors. Our first guest, a genetic counselor herself, is a name familiar to our audience. Laura Hercher is one of our regular month-in-reviewers, and today it’s all about her. She is on the faculty at Sarah Lawrence College where the first genetic counseling program was begun in 1969 and where half of the nation’s genetic counselors have been trained.

Like many other fields, there are different schools of thought when it comes to genetic counseling. In today's show, Laura says that the older method was for the counselor to decide what genetic data was good for the patient. It was thought that "genetic information is super explosive, and you have to treat it like non-exploded ordnance all the time and be very very careful what you give out."

Now, Laura says, the trend in genetic counseling matches that in the world at large "where people expect a free flow of information," and more is left up to the patient. "The early studies we've gotten have suggested that people can handle information."

What makes a good counselor? And is there a difference between counseling in the clinical setting and counseling for industry?

These are a few of the questions we cover in Part 1 of the interview.

Listen to Part 2.



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