genetic testing

Just in time for Black Friday, Ancestry.com has launched new health testing. Thanksgiving week (the company calls the shopping holidays the “Turkey Five”) has been kind to what is the largest DNA testing company in the world. Back in 2017, their ancestry test competed with the Instapot for Amazon’s top sellers on the biggest shopping day of the year. To date Ancestry has sold over 15 million DNA tests.

Ancestry’s approach with the health testing shows that they have learned from the field's fumbles: the new tests, which will deliver “actionable health and wellness reports,” will be available to consumers but ordered by an independent physicians network and supported within the health ecosystem.

Sarah South is here to talk about the new rollout. She's the VP of Laboratory Science at Ancestry DNA. Her CV itself gives a clue as to the smart way Ancestry is going about launching this product. She was previously the VP of Clinical Lab Operations at 23andMe and before that the Lab Director at ARUP Laboratories.

She argues that there is a level for what she calls "opportunistic" testing between the more comprehensive "rule out" testing that clinical labs do, and the level of . . . well, doing nothing.

“We don’t need to have everything in the “rule out” bucket. There are times when I might like to have an “opportunistic” finding. I'm not currently experiencing any symptoms. I don’t know of a strong family history. But I know that there are things that may be subclinical right now. And if I knew about them, I could do something about them. For example, our hereditary hemochromoatosis offering, or the predisposition to develop iron overload. Most individuals are subclinical until they are in their 40s or 50s. But the risk is that if you wait until you are clearly having clinical symptoms, the damage to the liver may be irreversible. ”

Sarah gives other examples of the actionable health variants as well as wellness offerings.

What about the charge often put to 23andMe that these tests are not complete enough but give consumers the impression that they have been completely tested, such as for BRCA. Sarah is on to the answer before Theral can ask it.

She also anticipates the future of health testing in the age of polygenic risk scores.

Join us now for our first interview with Ancestry.com.

Warning: the first part of this story can sound quite typical. Three co-founders with backgrounds in genomics and AI found a Stanford spinout. Their goal: to bring the tools of AI and computational modeling to unlock the medical secrets of the genome and deliver those to patients. They call this company, Jungla—Spanish for “jungle”—naming not only their adventure, but the whole problem. Then things get interesting.

For their first beta testing, they go around the genetic testing industry looking for partners. Basically what they hear back, is we don’t need that. However, they don’t hear the real reason why these companies don’t need their product. The real reason is because it offers a level of quality and standardization for genetic testing that is not currently required by the industry. In fact it shows “just how vulnerable the industry is.”

But one company—one of the bigger ones, one of the more innovate in the field—said yes, we want to partner. That company was Invitae. And a year later, Invitae would buy out Jungla.

Our guest today is Carlos Araya, the CEO and co-founder of Jungla and now acting as Head of Functional Modeling at Invitae.

It’s the story of one scientist's journey from academia, driven because of a personal family loss, into entrepreneurship, and the story of one company and then one bigger company each saying, “everything can be done better."

Ed Abrahams has a message for Nancy Pelosi about HR 3. That’s the new bill in the House to reduce drug pricing.

Ed is the President of the Personalized Medicine Coalition, an advocacy organization in Washington representing our industry which will soon announce a new caucus in congress devoted to personalized medicine. Ed joins us today and says to Pelosi, there’s a better way, a more American way to reduce drug costs.

The argument is not new. Personalized medicine will reduce costs if we encourage it to play out. The industry hasn't been around long enough to have yet made the difference. We're just at the beginning of this new era. The name 'personalized medicine' itself is only about twenty years old, Ed points out. What is new is a "value-sharing" pricing model which guarantees that innovation remains strong while making sure that patients have access to new therapies. Ed advocates for this new model and others like it on today's program.

"We need innovative ways of looking at drug pricing. It's a paradigm shift," he says. "And it's happening, but it's happening too slow and below the surface so that the public, as reflected in the Republican and Democratic parties, is unaware that there is a solution outside of price controls."

During an election cycle there’s bound to be a lot of noise on the topic, but for anyone who is serious about real solutions to healthcare, Ed’s organization does some terrific work and represents all the groups involved. Their annual conference takes place in Boston this November 13-14. Today Ed gives a preview of the topics which include drug pricing, but also our annual roundup of new therapies and an in-depth look at the year in genetic testing.

The MPS Society is a rare organization. Not just because it is an umbrella for the rare diseases that have in common lysosomal storage malfunction. But because it is one of the largest rare disease organizations in the world.

Terri Klein is the CEO leading the MPS Society. She says the group has over three thousand members on their roster. This brings some strength and resources in an area where low numbers intensifies an uphill battle.

Her job, she says, is to find those researchers out there working on the various MPS diseases--Hunter’s, Sanfillippo syndrome and about a dozen others--and make sure any and all science toward understanding, therapy and cures gets shared and developed. She "connects the dots" between research, funding, trial experts, parents and patients. Beyond the science and medicine, Terri says about half of her budget goes to care of patients.

So what is the state of existing therapies for these diseases now, and how close are we today to gene editing and gene therapy cures?

Terri has been instrumental in the creation of ConnectMPS, a very successful disease registry for MPS patients. What are her thoughts on how to make rare disease registers more impactful?

It seems to be human nature to value and pay up to hundreds of thousands of dollars for a little white pill that we can drop on the floor--and granted, can do wonders for us, but we want to pay nothing or very little to be told what is wrong with us so that we might know which little white pill to use in the first place.

So let's talk today about the The Alnylam Act, a program to shake up the business model in diagnostics and genetic testing on behalf of patients. The Alnylam Act is what it looks like when a drug company gets proactive and says, hey, we will step in and pay for patients to be genetically tested and counseled for the diseases on which we are working.

“We did this to reduce barriers to genetic testing—and the delays are often pretty long in rare diseases--so that individuals can make more informed decisions about their health.”

That’s today’s guest, Associate Director of Medical Affairs at Alnylam Pharmaceuticals, Jordanna Mora. And just to say it again, you understood her right. Her company, Alnylam, is paying for patients to be genetically tested and counseled.

Is Jordanna hearing any pushback over conflict of interest? After all, the patients who would be testing positive might be candidates for Alnylam’s drug.

The therapeutic we are talking about here is not on the market yet. In theory, it is set to be approved this August, and would be the first of the RNAi drugs. It will be an exciting day for the company, for patients, and for the drug development industry as a new class of treatments is born.

After years of seeing the diagnostics industry struggle to win reimbursement for their innovations, it's refreshing to hear about a drug company filling in the precision medicine gap for the good of patients, many who get misdiagnosed or wait way too long for a diagnosis. Will the Alnylam Act be a model for other drug companies?

“There are a number of companies doing very similar programs, and I think its fantastic,” says Jordanna.

We go for just over 15 min.

A few years ago they were the new kid on the block, and now they are a leader of mainstream genetic testing. Last year their revenue and profit were significantly up.

And yet in today’s interview, CEO Sean George does not sound like someone sitting back on his laurels. In fact, he says his business model has got to change.

We expected Sean to push back against the recent approval of 23andMe’s direct-to-consumer BRCA test and the recent boldness of the DTC space in general, but he surprised us with a welcoming attitude toward his “coopetition.” He says that the DTC companies are providing general education in genetics to the public.

“It’s tailwind for us.”

When asked if they would ever consider going direct to consumer, Sean said that Invitae has already been piloting a broad comprehensive genetic profile for healthy people and has plans to launch it to the general public in the future. All of their tests, he emphasizes however, must be ordered through physicians.

Sean goes on to lay out his vision for the business model of the future.

"The model of single $3,000-$5,000 tests is clearly dead. It does not work. The companies do not scale. The value is there. It’s disappointing to me that it doesn’t work. But people are not paying for it. So our view is you've got to go at it the other way. Let’s unlock it. Let’s make it a utility in healthcare.”

Reproductive testing is one of the hottest fields in which genetics is going mainstream, a field hurdling us rapidly into the future. It’s an area we’ll be following closely in 2018.

Gary Harton serves as the Chief Operating Officer in the US for Igenomix, a company in the reproductive testing space with a vast global presence. The company has labs in the US, Japan, India, Turkey, Rome, Brazil, Mexico, Canada, and are headquartered in Valencia, Spain.

This international operation across so many cultures and national borders has its logistical and regulatory challenges, but it also offers the company an opportunity to introduce tests to cultures which are early adopters in a field fraught with big ethical and cultural decisions. With these more open cultures, the company can develop new tests and supporting clinical data.

The company’s most common test is preimplantation genetic screening (PGS) where embryos are checked during an IVF cycle for chromosomal abnormalities. According to Gary the test has gone mainstream in the US, but not in Europe. Yet in Europe, there can be wide variability. Spain and Italy tend to be early adopters and open to new testing technologies, whereas France is highly regulated.

One of Igenomix's newer tests is preimplantation genetic diagnosis (PGD). This offers parents who have a disease such as Huntington’s or cystic fibrosis--or are disease carriers--to eliminate that disease from their embryos through genetic testing. There is widespread support for PGD being used for this purpose. However the test can also be used for enhancements, or the grey area between disease and enhancements. Here, of course, decisions get much more complicated. For example, Gary says that recently the company had a request from deaf parents to select for deafness with their embryos. Should the company offer such a test?

How does Igenomix decide which traits to select for? Are there governing regulatory bodies that issue guidelines? A year ago we interviewed Hank Greely, author of The End of Sex, who argued that in 20-40 years parents would not use sex to reproduce. Does Gary agree with Hank's bold prediction?

We also talk with Gary about some less thorny issues. Years ago, the industry used FISH technology for testing then switched to arrays. Now most everything is done with NGS. How has NGS and new automated liquid handling technologies impacted the field? Has this raised the quality of testing?

It's a rare glimpse into life for some pioneers taking genetics into the future, and Gary is open and transparent.