precision medicine

We hear from some that soon each baby's genome will be sequenced at birth. This vast amount of genomic information will be stored in a person's medical record for life and be referenced for personalized healthcare, be it for a diagnostic, a prognostic, or a prediction. But others say that it is still way too early to be generating so much information on each person when we know so little about the genome. This camp argues that we should deal with patients on a case by case basis using a more targeted approach.

The Inova Translational Medicine Institute offers us a glimpse into questions such as the whole genome vs targeted approach. A unique not-for-profit research institute, they are using genomic information from patients in the Inova Health System’s five hospitals to move them closer to personalized medicine. With this direct access to patients, solid funding, and a location in the Washington/Baltimore government research hub, the institute is no doubt the envy of anyone working to implement genomics into the clinic. Add to that, Inova’s CEO is a former NCI director, John Niederhuber, who has hired some of the best and brightest in genomics.

We talk today with Ben Solomon, who was hired out of the NIH to be leader of the institute’s Medical Genomics Division. He says that one of their first studies looks at the genomes of over 1,000 pre-term birth babies and could be a model for clinical sequencing on a larger scale.

“We enroll folks about halfway through pregnancy," says Ben in today's show. "We generate whole genome sequencing on the baby when the baby is born, but we start collecting samples from mom and dad before the baby is born. Then we do whole genome sequencing on the full trio. And we follow them longitudinally, hopefully throughout their whole life. The oldest patients are four to five years old now. We re-consent them at a certain age.”

The study is an example of staying away from any bias that comes with looking for a particular disease. In fact, Ben says, in the age of genomics, the classical presentation of disease is drastically changing. A longitudinal study like this is about finding the "natural history" of many different conditions.

This particular study uses whole genome sequencing, but much of the work the institute does is targeted sequencing. Ben says that though it's often a blurred line, his team first determines whether the case is research or clinical. If it's a clinical setting, he says the first line approach is to go with a targeted panel, pointing out that the use of panels has grown tremendously over the past few years replacing the "one-off" genetic testing.

"A few years ago when someone was coming in with a question of hereditary breast and ovarian cancer, the standard was BRCA1 and BRCA2 testing. And very quickly that has changed into almost always larger panel testing. And even the panels offered are getting much larger."

Ben says there is often resistance to the growing size of panels - including from both genetics professionals as well as other clinicians and patients -because with larger panels, the likelihood of seeing variants of unknown significance increases and with that the challenge of interpretation.

This question of targeted vs whole genome leads to a discussion about how much genome interpretation Ben and his team do in house, demands of a bioinformatics infrastructure, and costs.

The promise of rational drug design has driven pharma companies for years. The history of the industry has been one of trial and error, or “guess and check”, as scientists often say. Companies have screened thousands and thousands of compounds looking for one that might work—the proverbial needle in the haystack. With the arrival of molecular profiling and an explosion in understanding of basic biology, many in our field have hoped to make drug development more predictable: to start with the biology, and with the aid of new computing power, design a drug to work in a specific biological setting. But instead we've been making the haystack bigger. When will we see a tipping point where more drugs than not are derived through logic rather than luck? Though there have been great examples—Merck’s Truspot being the first and Novartis’ Gleevec perhaps the best known—rational drug design still remains a mostly unfulfilled promise.

BERG Heatlh, a Boston based pharma company, is working to change that with their AI platform and a new “back to biology” approach. Today we talk with BERG CEO, Niven Narain, who also is a co-founder of the company.

“We’re flipping the entire [drug development] model upside down,” Niven says. "We’re going to ask the patient biology what has gone wrong and generate as much of the omics data as we can from that patient. We then correlate that to their histories and health records in a population based way and compare it to healthy individuals. Out of that analysis we derive potential drug candidates and biomarkers.”

BERG has secured a considerable amount of press with the attention grabbing headline, “company using AI to cure cancer.” Backed by billionaire Carl Berg, the company can’t be faulted for thinking small. But are they doing anything different than other pharma companies? In today’s interview, Niven says they are looking at 15 trillion data points on a single sample. And the scientific approach is perhaps more robust that we’ve seen in the past. Rather than relying on the latest biomarker studies, the company takes a non-biased approach by letting the patient’s data create it’s own picture of the biology.

Are drug prices really too high? If so, how do we bring them down? Is precision medicine and the use of molecular profiles really making a difference in healthcare today?

These are questions that regularly haunt our industry and the journalists who cover it. But there will be no answers until we face the grand question of all, what today's guest calls the most nagging question in medicine: What is health?

Today we begin a new series focused on just this question.

When I came across Michel Accad’s recent blog, Why I Don’t Believe in Science, of course it provoked me to click. Either he would be a terrible nutcase, in which case I'd lose the time it takes to discover this, or it might turn out to be one of those disturbing points of the day when we have to actually do some thinking. What I found was a cardiologist based in San Francisco who was doing some deep philosophical thinking about medicine today. And, obviously, one savvy enough to get some click through. It turns out Michel does believe in science, but he doesn’t share the pervasive view that medicine is a continuum of science.

What are his thoughts about precision medicine? What is his definition of health?

We always jump at the chance to have a medical doctor on the program, and a doctor who is also a philosopher is a double treat. Today's interview takes us down a different path than our typical shows, and we'd like to invite the audience to send us your feedback by clicking here.

It’s time again to look back on another month with Nathan and Laura.

Josie Briggs is Director of the National Center for Complementary and Integrative Health (NCCIH) at the NIH. She is also currently serving as interim director of the president’s new Precision Medicine Initiative (PMI).

What has happened since the president announced the initiative, what is the proposed timeline going forward, and how much money will there be for the project ongoing?

Josie answers these questions and more in today’s show, comparing the PMI to the well known Framingham Heart Study, probably the nation’s greatest longitudinal study to date. As with the Framingham study, the NIH is hoping that the PMI will engage the general public in biomedical research.

“Having the interest of the public in clinical research, and having people sign up and be engaged and say that they want to be a part of this is, to me, a very important component. In some disease areas, it’s striking how few people participate in clinical research. This is — and the president’s enthusiasm is part of it — this is a way for there to be broader engagement in clinical research,” says Josie.

Earlier this year, the California Life Sciences Association (CLSA) launched, becoming the first statewide policy and advocacy group for biotech. The new nonprofit, a merger between BayBio and the California Healthcare Institute, is led by CEO Sara Radcliffe, former Executive VP of Health at the international Biotechnology Industry Organization (BIO) in Washington.

Sara steps into this new role at a time when biotech is booming in the state and in the nation. Yet she will face some difficult challenges ahead:  drug prices are going through the stratosphere,  drawing increasing ire from the general public and state and national goverments while diagnostic test makers see their often patchy reimbursement being further reduced.  Facing a new statewide ballot initiative that aims to fix drug pricing and an upcoming drug cost transparency bill scheduled for the next legislative session, how will Sara defend CLSA members, such as Gilead and Celgene, who are charging ever higher drug prices? And what will she do for a promising yet underpaid diagnostics industry?

Welcome to California, Sara.  How does she like the Bay Area so far?   “It’s a much more laid back environment,” she says at the end of the interview. "Washington can be quite a staid environment. So I’m enjoying the entrepreneurial atmosphere."

If you haven’t already, check out the inaugural Festival of Genomics being held in Boston later this month.

Billed as “a rigorous, fun, and transformational forum,” the unusual get-together will feature the who’s who on the genomics speaking circuit, including Craig Venter, George Church, and Eric Green. Based more on a music festival than a science conference, the Festival of Genomics offers a chance for folks from all around the genomics community to perhaps connect in a new way. And did I mention the disruptive price? Tickets are going for as low as $150 to enable more diverse attendance.

Who is this new media company, Front Line Genomics, that is producing the show? And what is their goal?

We talk to CEO, Richard Lumb, and Managing Editor, Carl Smith about the new company, the first festival, and their overall vision.

“We’d love the festival to be something that people genuinely look forward to and think: ah great, time to get out of the office and have some fun, meet old friends and see what new exciting research and new opportunities are out there,” says Carl in today’s show.

The Festival of Genomics takes place at the Boston Convention Center, June 22-24.