Blog

10 Genomics Questions for the Presidential Candidates

Author: 
Theral Timpson

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.  A regular genetic screen for all members of congress for 20 intelligence variants 

   B.  Making sure all firewood around the country is non-GMO and gluten free

   C.  Installation of a pipeline from Canada to the US, but for prescription drugs, not oil

   D.  Enable school kids everywhere to sequence their own genomes on the MiniSeq

 

4.  What is the microbiome? 

   A.  Donald’s private parts

   B.  The chance of Gary Johnson getting into the debates

   C.  Another word for Hillary’s idealism

   D.  Jill Stein’s favorite strain of non-GMO pot 

 

5.  What’s your position on LDTs?  (Hint, it’s not a drug or a religion or a sexual identity.)

 

6.  How are you going to one up Obama’s Precision Medicine Initiative?  (Hint:  Put in some actual money.)

 

7.  What is an exome?

   A.  The genome of one of Trump’s ex-wives 

   B.  The portion of the genome that appears on an X-ray

   C.  The only portion of the genome that Gary Johnson thinks the government should be interested in

   D.  The genome of a voter turned away from the polling station

 

8.  During the next 4 years a trove of genetic information will come in.  To deal with this onslaught, how important is it that a National Genetic Counselor be the next new cabinet position? 

 

9.  What is CRISPR?

   A.  GMO bacon

   B.  Part of the refrigerator

   C.  Part of the future

   D.  A national council in favor of stiffer hundred dollar bills

   E.  The New York City dry cleaner where Trump gets his shirts done

 

10.  If it turns out that we can’t cure cancer in the next four years, how will you break this to the people?

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

Author: 
Theral Timpson

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.”

ORIG3N CEO said, “it’s an incredible opportunity to show 49er fans just how bad their own sports genes are compared to an average NFL player, to say nothing of warning them of cancer, Alzheimer’s, Parkinson's and anything else that could some day kill them.”

He also said his company name was so bad that they needed a major deal like this to go anywhere.

Scientists who weighed in on the announcement praised the 49ers for their progressive attitude to health, saying that if the 49ers can’t end all the concussions, perhaps they can help out in this other way.

George Church, who has spent years trying to go about collecting DNA samples in the right way, said, “screw it,” and volunteered to be an usher at the games and give tests to the fans.

“We always hear that we are ‘ushering’ in a new era of medicine,” he reminded.

Luke Timmerman reported on his Report that he just got back from the White House where he overheard the Veep expressing some envy of the 49ers deal.

“We have to use this one press room at the White House to get people participating in the President’s Initiative and my Cancer Moonshot,” said Biden. “And they have a stadium!”

There was one lone editor at the San Francisco Chronicle who chimed in with skepticism of the 49ers getting into genetic testing (moving south): “Do we need any more proof to know that there is something wrong with the Silicon Valley water? Whoever drinks it always comes up more thirsty . . . for data."

Gene and Tonic, July 7, 2016: Not the Scientific Method

Author: 
Theral Timpson

On Monday the New York Times published an OpEd for a guy who wants to take the scientific method away from scientists.

There was immediate outrage from Scientific American. Their executive editor wrote, “I am shocked that in a liberal society such as those who read the New York Times and drive Priuses, a society which prizes itself for valuing the uniqueness of others, that scientists are now being singled out and persecuted in this manner. The next thing you know, scientists won’t be able to use either bathroom. After all we gave you--the moon and Silicon Valley and glowing plants for your cubicles--and we get repaid like this?”

The author of the Times piece tells scientists that they can’t have their method because they can’t use it on themselves. And furthermore, just because poets and philosophers aren't as precise as scientists, reads the article, doesn’t mean they can’t use the method.

Many were in disbelief that the New York Times would run such a piece. In fact new scientific theories were springing up hourly, such as the Subway Theory based on the likelihood of New York Times journalists riding the subway with journalists from The Onion and accidentally dropping and picking up the others’ stories.

The Times spokesperson denies this saying, “anyone who bothers to stay apprised of the media business would known why it’s not true. The numbers just don’t work out. The Onion is down to a staff of two sitting at the table: the editor and the onion. At the Times, those of us left can’t even cook with onions."

Another theory is that a Times journalist and an Onion journalist walk into a bar together. After getting drunk they decide to swap stories and see what happens.

Proponents of this theory think it’s happened many times before.

Update: It’s rumored that the story intended for the Times that went instead to The Onion was a piece by Carl Zimmer saying he was the first journalist to have his genome sequenced. Zimmer denies this, insisting the story was intended for STAT News.

Gene and Tonic, July 7, 2016: Vermont's New Law and the Nobel Laureates

Author: 
Theral Timpson

On July 1st, Vermont’s GMO labeling law went into effect. All food sold in the state that has been genetically modified has to say so on the label.

While some geneticists are throwing their hands up in the air in total exasperation, others are consulting big food.

“It’s all been genetically modified at some point. So put GM on every piece of food,” reads one consultant’s email. “They’re Vermonters. While you’re changing the labels--which I do understand isn’t cheap--you might as well put, ‘Have a beautiful and pleasant day, Vermont!’”

Still other geneticists are more optimistic, such as Nathan Pearson here on Mendelspod. Put GM on the label, he suggests. The next thing you know, the average shopper will be requesting GM products at their local market.

There was one group of scientists that has been very upset. They all won the Nobel prize, and so they sent Greenpeace a letter accusing them of “a crime against humanity.”

Greenpeace is the leader of the anti-GMO crowd, making them basically the Vermont of non-profits.

A spokesperson for Greenpeace said that the Nobel winners could “go f*** themselves, and gene drive their a**holes out of existence."

Oh, no, we got that wrong.  That wasn’t a spokesperson.   The spokesperson said, “We don’t get spanked by just anyone. Just because these people have a Nobel doesn’t mean they’re qualified to spank Greenpeace like this. How would you feel if you got spanked by over a hundred Nobel prize winners?”

A journalist familiar with the non-profit and wished to remain anonymous did say that Greenpeace had a tendency towards S & M.

“It’s part of the gig, right? Part of the act is to resist. They’re not the worse S & M pair in the world. In fact, I think they rather do quite well together,” said the journalist.

Gene and Tonic, June 24, 2016: "Best of" . . . this Week

Author: 
Theral Timpson

Other than sitting by as Great Britain became Petite Britain, how did you enjoy the week? If anyone shares an office--like I do--with someone from the European Union (Austria), then you were allowed to focus on little else. But there were some fun items this week, which I’ve turned into a short “Best of” list.

 

Best Ad Campaign of the Week

This category has to go to STAT news. Just when they are running out of major stories to cover after six months in publication, they start coming out with some cool social media ads.

  

 

Best Ome of the Week

"Thanatotranscriptome: genes actively expressed after organismal death"

“It’s alive! It’s alive!” Scientists at University of Washington, Seattle found that some fish genes remain active up to four days after death. It turns out that death reverts us to a kind of embryonic state where some of our genes get upregulated.   In other words, our genes get the final say.

Think of it as a postscript to our lives:

“PS.  Boy, glad that’s over.” 

“PS.  No, no, no, no!!!”

How about, “PS.  Should have gone to Illumina for that whole genome sequence."

Or probably, “PS.  I lived to see Great Britain fall apart.”

 

Best Podcast Name of the Week

“Before you pop that Tylenol, tune into this podcast”

Is it just me, or did anyone else find this week’s Signal Podcast with Luke Timmerman and Meg Tirrell to be brilliantly named? It’s all happening at STAT News these days. I only wish I’d come up with this title for one of the Mendelspod shows.

It does inspire some alternate versions:

“If you think you have a headache now, just listen to our show.”

“Podcast, then Tylenol. Podcast, then Tylenol.”

Let's try some other medications:

“Before you pop that laxative, give our podcast a chance.”

“Wait. Do you really need that sleeping pill, when you can listen to our podcast for free from your iPad?”

“Listen to Mendelspod. Take an anti-diarroeahl.  And call me in the morning.”

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

Author: 
Theral Timpson

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.

For fellow lister, Anne Wojcicki of 23andMe, Flatley is known modestly . . .  as "the ruler of this whole universe."

For others, he's known as Jay of Arimathea because he founded the Holy Grail.  

For the upcoming list BI Top Destroyers of Value, Mendelspod wants to nominate John Carreyrou, journalist at the WSJ who took all of Elizabeth Holmes' money from her.  If it hadn’t been for Jon’s timely articles, Holmes might have been listed above Flatley as a Creator of Value--a thought that a year ago would not be so preprosterous.

 

Not Getting Off Thought Free

Forbes journalist, Matthew Herper, put his career on the line this week when he proposed an original idea.

The idea?  It doesn’t matter.  

“Journalists should not be putting their own ideas out there,” wrote one of a number of disgruntled readers.  “It’s the job of a Forbes journalist to build their brand, first of all, by repeating others, preferably Ayn Rand and, second, by piling up opinions that are free of any original thinking. 

Herper’s proposal, the creation of a government-run fund that would single handedly be able to lower drug prices, reveals a writer willing to risk it all.  

“Matt’s had a tough go of it at Forbes,” said a former mentor who wished to remain anonymous.  “I mean, just standing up for the FDA has already been a huge gamble.  First you become a lone wolf and fall away from the pack here and there, then before you know it, you begin to stumble on to your own ideas.  He obviously tries.  Even though he’s proposing a government program, he did put “market-based” into the headline."

 

83% of British Scientists Against Leaving the EU

Today we found out the Brexit is pretty much a done deal.  When so many scientists are against something, the majority of the people will certainly be for it.

 

My Guide for Reading My OpEd

Berkley stem cell biologist and compulsive blogger, Paul Knoepfler, authored an OpEd in the San Francisco Chronicle beating up on CIRM this past week.  Then he turned around and wrote another OpEd on his blog saying that he loved CIRM.

This practice is known outside academic circles as . . . . “being an academic.”

Come on, Paul.  It’s also known as being a waffler.  When you publish an OpEd, at least give your regular blog readers the day off.

 

Siddharta Mukherjee's Writing Career Just Got Dealt a Sucker Punch

Author: 
Theral Timpson

Siddharha Mukherjee won the 2011 Pulitzer Prize in non-fiction for his book, The Emporer of All Maladies.  The book has received widespread acclaim among lay audience, physicians, and scientists alike.  Last year the book was turned into a special PBS series.  But, according to a slew of scientists, we should all be skeptical of his next book scheduled to hit book shelves this month, The Gene, An Intimate History.

Publishing an article on epigenetics in the New Yorker this week--perhaps a selection from his new book--Mukherjee has waltzed into one of the most active scientific debates in all of biology: that of gene regulation, or epigenetics.

Jerry Coyne, the evolutionary biologist known for keeping journalists honest, has published a two part critique of Mukherjee’s New Yorker piece.  The first part--wildly tweeted yesterday--is a list of quotes from Coyne’s colleagues and those who have written in to the New Yorker, including two Nobel prize winners, Wally Gilbert and Sidney Altman, offering some very unfriendly sentences.

Wally Gilbert: “The New Yorker article is so wildly wrong that it defies rational analysis.”

Sidney Altman:  "I am not aware that there is such a thing as an epigenetic code.  It is unfortunate to inflict this article, without proper scientific review, on the audience of the New Yorker.”

The second part is a thorough scientific rebuttal of the Mukherjee piece.  It all serves as a great drama about one of the most contested ideas in biology and also as a cautionary tale to journalists, even experienced writers such as Mukherjee, about the dangers of wading into scientific arguments.  Readers may remember that a few years ago, science writer, David Dobbs, similarly skated into the same topic with his piece, Die, Selfish Gene, Die, and which raised a similar shitstorm, much of it from Coyne.

Mukherjee's mistake is in giving credence to only one side of a very fierce debate--that the environment causes changes in the genome which can be passed on; another kind of evolution--as though it were settled science.   Either Mukherjee, a physicisan coming off from a successful book and PBS miniseries on cancer, is setting himself up as a scientist, or he has been a truly naive science reporter.   If he got this chapter so wrong, what does it mean about an entire book on the gene?

Coyne quotes one of his colleagues who raised some questions about the New Yorker's science reporting, one particular question we’ve been asking here at Mendelspod.  How do we know what we know?  Does science now have an edge on any other discipline for being able to create knowledge?

Coyne’s colleague is troubled by science coverage in the New Yorker, and goes so far as to write that the New Yorker has been waging a “war on behalf of cultural critics and literary intellectuals against scientists and technologists.”     

From my experience, it’s not quite that tidy.  First of all, the New Yorker is the best writing I read each week.  Period.  Second, I haven’t found their science writing to have the slant claimed in the quote above.  For example, most other mainstream outlets--including the New York Times with the Amy Harmon pieces--have given the anti-GMO crowd an equal say in the mistaken search for a “balance” on whether GMOs are harmful.  (Remember John Stewart’s criticism of Fox News?  That they give a false equivalent between two sides even when there is no equivalent on the other side?)

But the New Yorker has not fallen into this trap on GMOs and most of their pieces on the topic--mainly by Michael Specter--have been decidedly pro science and therefore decided pro GMO.

So what led Mukherjee to play scientist as well as journalist?  There's no question about whether I enjoy his prose.  His writing beautifully whisks me away so that I don’t feel that I'm really working to understand.  There is a poetic complexity that constantly brings different threads effortlessly together, weaving them into the same light.  At one point he uses the metaphor of a web for the genome, with the epigenome being the stuff that sticks to the web.  He borrows the metaphor from the Hindu notion of "being", or jaal.

“Genes form the threads of the web; the detritus that adheres to it transforms every web into a singular being.”  

There have been a few writers on Twitter defending Mukherjee’s piece.  Tech Review’s Antonio Regalado called Coyne and his colleagues “tedious literalists” who have an “issue with epigenetic poetry.”  

At his best, Mukherjee can take us down the sweet alleys of his metaphors and family stories with a new curiosity for the scientific truth.  He can hold a mirror up to scientists, or put the spotlight on their work.   At their worst, Coyne and his scientific colleagues can reek of a fear of language and therefore metaphor.  The always outspoken scientist and author, Richard Dawkins, who made his name by personifying the gene, was quick to personify epigentics in a tweet:   “It’s high time the 15 minutes of underserved fame for “epigenetics” came to an overdue end.”  Dawkins is that rare scientist who has consistently been as comfortable with rhetoric and language as he is with data.

Hats off to Coyne who reminds us that a metaphor--however lovely--does not some science make. If Mukherjee wants to play scientist, let him create and gather data. If it’s the role of science journalist he wants, let him collect all the science he can before he begins to pour it into his poetry.

Gene and Tonic: A 2016 Timeline

Author: 
Theral Timpson

 

Journalists listen to others telling them what actually happened all year long.  But for this one week at the first of the year, we like to make up our own stuff.

January - The general mood at the annual J.P. Morgan Healthcare conference in San Francisco is one of relief.  

“Last month the FBI caught the lead mastermind behind the pharma industry’s high drug prices, and he’ll be brought to justice,” says the CEO of a pharma giant to a room full of investors and journalists at the historic St. Francis Hotel.  “Problem solved.”

Also at the J.P. Morgan, Illumina releases a new sequencing instrument called, JuniorSeq.    Hailed as a major milestone in the forward progress of health and disease prevention and wellness and all that is good and proper for mankind, the new machine represents a partnership between Illumina  and Facebook.  Within months, we're told, we’ll be seeing the new JuniorSeq and accompanying software in elementaries and high schools and universities around the world.

To a room full of sober faced but giddy investors, Illumina CEO, Jay Flatley, announces, “This is a new era when our children will have the ability--and therefore the right--to search their own genomes and share them with their friends on Facebook.”  

In attendance is Facebook's Mark Zuckerberg, who adds:  “I only wish I was in college again!”

February - Not to be outdone by Illumina, Pacific Biosciences releases their own new sequencing machine at the AGBT conference in Marcos Island, Florida.  They are calling it Prequel.

CEO Mike Hunkapiller:  “First of all, I’d like to remind everyone that this beach resort is the designated place to launch new sequencing products.   We’re very proud to launch our new Prequel.  If we could go back in time, this is the instrument we would have began the company with.    But anyway, here it is now.  All of the big sequencing projects should be redone with long read technology.  Maybe we can't rewrite history, but we can and must redo all those genomes . . including Craig’s.”

March - The covers of Forbes and Fortune feature healthcare’s latest wunderkind billionaire, the nineteen year old male-to-female transgender founder of Unicorn Health.  The cover articles reveal that the media’s newest darling started her company when she was just twelve in a Seattle elementary school and has been operating in stealth for seven years.  

A former teacher of the founder, who is on the Unicorn Health board of directors says: “I’m very proud of her.  She was a him when she was in my biology class.  And this is back when there were no JuniorSeqs around.”

According to Forbes, Unicorn Health will be changing healthcare and wellness for all in the very near future by enabling everyone on the planet to spit onto their mobile phones and get an immediate readout of something. 

Also on Unicorn’s board of directors are major dignitaries, including Gehngis Kahn and one of the original members of the 80’s popular music band, Milli Vanilli.

The company has not yet published any data.

The Forbes journalist was particularly exuberant in his article about the new startup and it’s innovative and disruptive founder.  “She not only disrupted gender, she’s disrupting health, business, and spit,” he writes.  “Furthermore, having a transgender is a new thing for the Forbes billionaire list and is really exciting.”  

May - The FDA releases their final guidance on Laboratory Developed Tests, or LDTs.  The new guidance groups LDTs in two categories:  WGTO or We Got This One and WHNC or We Have No Clue.  

June - The Festival of Genomics will be held again just outside Boston on an open field next to a dairy farm.  Bailing out of a helicopter in pouring rain two weeks prior to the event, the conference lead organizer runs to the barn and addresses a few reporters in a crisp West End London accent.

“This is the site where history will be made.  There will be five stages, all of which will hold great rock bands including U2, KISS and EditMyJeans.  There will be no scientific presentations, which comes closer to fulfilling our real vision of bringing scientists closer together with patients. . . . We’ll be handing out CRISPR kits, so if anyone wants to do a little CRISPRing on the side, then that’s fine.”

July - The FDA’s final guidance on LDTs is held up in the Congressional Budget Office, indefinitely.

A spokesman for the Diagnostic Test Working Group says:  "This is a victory for innovation and capitalism.  Now investors can go back to being uncertain about whether there is money in diagnostics rather than that unworkable certainty that there is not."

August - A New York Times journalist reveals that Unicorn Health has no new proprietary technology and has in fact been using some old equipment from a lab at MIT.  When queried by the Forbes journalist who wrote the cover article back in March about just how she found this out, the NYT journalist tweets back:  #made #some #calls.

September - Another #summit #meeting #convention #whatever-you-will called @GeneEditingEthics arrives at another consensus:  #opencarry.

The meeting is hailed as an important event by all the important news outlets.

Also, the word CRISPR and various forms of it, i.e., adjective: CRISPRed and present participle verb:  CRISPRing, are added to the Oxford English Dictionary.  

Novemember - Illumina launches the KinderSeq at ASHG.

December - Roche announces their list of 150 acquisitions for the year. 

“We thought one press release just simplified things,” says a Roche spokesperson.  

Cliff Reid to Resign as CEO of Complete after BGI Shakeup

Author: 
Theral Timpson

 

Genome Web reported today that BGI has put Complete Genomics' recent launch of the Revolocity super sequencer "on hold." According to Complete CEO, Cliff Reid, BGI has been undergoing "a strategic reevaluation" since the surprise departure of their founder and chief executive, Jun Wang, back in July.

This must come as a complete shock to Cliff and his team over in Mountain View. In an interview here at Mendelspod just last month, Cliff was bullish about the new super sequencer and had just presented some data on the Revolocity at ASHG in October.  Cliff told GenomeWeb that he plans to resign.

Cliff has been an eloquent spokesperson for genomic medicine since co-founding Complete Genomics back in 2006, then the world's first large-scale human genome sequencing company. Rather than sell instruments, Cliff and Complete set themselves apart as a service company. When Complete had to sell out to BGI in 2013, it was already apparent that the product model had won out over the service model, as most major research centers chose to have their own tools to sequence human genomes.

In our recent interview with Cliff, he said that it's not really about product vs. service anymore, but rather about centralized and decentralized. "There is still a nationalistic view of DNA," he said, pointing out that every country is concerned about shipping their genomic data overseas. And that means that "you gotta take the instruments and the data to the customers where the patients live."

I hope Cliff sticks around in the genomics space. He's got some strong ideas about how genomic medicine will play out and has always been excited about the possibilities of the direct-to-consumer model.  In a post I wrote back in 2013, 5 Myths of Genomic Medicine, Cliff said:

"If there’s any revolution that will change medicine, it’s not the science of biology as much as the phenomenon of social media.  It is changing the way humans interact.  It is changing our culture and turning existing hierarchies on their head.  Patients are talking with each other.  They are talking directly to researchers, and as seen in the previous myth, they are developing a different relationship with their physicians." 

Prior to starting Complete, Cliff founded a search engine company (before Google) and a video sharing site (before YouTube), neither of which panned out.   He told me once that the joke around his house is "fourth time is the charm."  

An Industry Policy Update: The LDT Hearing, a Dx Reimbursement Win, and a Bold Look at Drug Pricing

Author: 
Theral Timpson

 

Congress Questions FDA and CMS on LDT Regulation

Over the past several years we have been closely following the move by the FDA to regulate laboratory developed tests, or LDTs.  Most recently we had Scott McGoohan from BIO on the program summarizing the  group of alternate plans which have recently been presented to Congress.  The sponsors of these plans--the main four being AMA,  AMP, CAP and the Diagnostic Test Working Group--hope to persuade Congress to intervene and change the FDA’s current course.  The plans have been presented both to the House Committee on Energy and Commerce (E & C) and to the Senate HELP Committee.

This week, E & C held a hearing on the topic of LDT regulation and invited as witnesses, Jeffrey Shuren, director of FDA’s Center for Devices and Radiological Health, and Patrick Conway, chief medical officer at CMS. 

There were two important developments at the hearing.  First of all, in preparation for the hearing, the FDA released a report making their case as to why they should regulate LDTs.  This report is something that members of Congress had asked for last year, and this week we got to see a list of  20 examples of non-regulated LDTs that the FDA feels are bad for patients.   Some of the cases involve false-positive tests where patients have been told they have conditions they do not really have. The report argues this "has caused unnecessary distress and resulted in unneeded treatment." In other cases, the LDTs were offered false-negative results and  patients’ life-threatening diseases went undetected. Here, patients have failed to receive effective treatments. 

The examples were all anecdotal and Dr. Shuren got drilled on this by the committee.  Are these stories sufficient evidence of harm? Shuren assured the committee that the FDA does use case studies such as these when validating tests.  He also pointed out that evidence of unregulated tests causing patients harm is actually hard to come by for the very reason that there is no system in place for post market review.  Upcoming LDT guidance will fix just that.  

The second development that struck me is that CMS totally had the FDA's back on this.  Dr. Conway of CMS always agreed with Dr. Shuren and frankly told the committee that CMS doesn’t have the personnel, the resources, or the expertise to provide oversight.  Dr. Conway offered numbers, saying that CMS has only 25 “survey staff,” and they are trained in lab and equipment protocols.  They “do not have scientific staff capable of reviewing complex medical and scientific literature to determine clinical validity,” he said.  “This expertise resides within the FDA.”

All summer we’ve been hearing about these alternate proposals for oversight which mostly call for a "beefed up" CLIA.  It turns out that CMS, the folks who run CLIA, don't want to do it.  Dr. Conway says that they can't and furthermore, it would lead to "inefficient and duplicative" oversight.  It's reassuring to see the FDA and CMS in such full agreement.  We got this one, the two agencies already in place are telling Congress.

So where does this leave us?  Dr. Shuren of FDA was specifically asked when final guidance would be finished and published.  He reluctantly volunteered “early 2016."  Whichever way it goes, there will be more politics involved.  On the one side, when the FDA puts out final guidance, it must still be cleared by the Office of Management and Budget, which was widely believed to have held up the draft guidance by a year.  On the other side, if one or a combination of the proposals before Congress is drafted into a bill, it must, of course, pass the House, the Senate, and the President’s desk (unless Congress musters the votes to override a veto.)

There is a third option.  LDT reform could be done through MDUFA, or the Medical Device User Fee Amendments.  This is a legislated user fee system where medical device companies pay fees to the FDA to fund review activities.  The user fee programs must be periodically renewed by Congress and are next up for renewal in October of 2017.  This would provide Congress with an opportunity to take legislative control of LDTs without a new standalone bill on the topic.  

A new bill  could perhaps take years and the MDUFA option wouldn't work until late 2017.  With the FDA’s final guidance on LDTs out much sooner, will resistance have settled down by then?

CMS Reverses Course on Diagnostics “Disimbursement”

Earlier today I heard from a very happy guest we had on the program a month ago, Peter Maag of CareDx.  When I interviewed Peter he was in a fight for the life of his company as CMS had proposed a decrease in the reimbursement rate of CareDx’s Allomap test for heart transplant recipients.   In an email titled, "Patients Win", Peter wrote today that CMS had reversed course and that reimbursement rates will stay the same.  After a coalition of diagnostics companies and policy experts mobilized to fight against the decrease in rates, CMS chose to go with the “gapfill” method of pricing vs. the “crosswalk” method.  

"How the original decision to crosswalk AlloMap and several other molecular diagnostics to single codes remains unclear," wrote Peter.  "However, it is apparent that the [CMS] Advisory Group was able to listen and amend the recommendation prior to any significant impact to patient care."

This is great news for CareDx and many other diagnostics companies who would have been affected, including Genomic Health, Vericyte, and Myriad Genetics.  Shares of CareDx surged today as much as 40%  after  the news.

As discussed in a recent interview with diagnostics reimbursement consultant, Bruce Quinn, CMS' outdated reimbursement methods will fortunately be changing next year as the result of the new PAMA (Protecting Access to Medicare) legislation.  Pricing in the future will be set in the way it’s done on the drug side of the industry, with a market-based payment system.

Drug Pricing Controversy

As diagnostics move to a market centric approach, unfortunately that approach is being abused by more drug companies than would like to admit it.  The topic is becoming an issue for the presidential election.  In the Democratic debate this past Saturday evening, we heard more attacks on drug companies.  As would be expected, the self-proclaimed revolutionary Bernie Sanders said drug companies are "ripping people off every day."    We expect to hear this kind of lambasting and outrage at debates.   So it was great to hear Hillary Clinton put forth a substantive idea asking,  “why isn’t Medicare able to negotiate drug pricing?”  Many leading physicians and healthcare journalists are arguing for just such reform.

For further insight into the drug pricing issue,  Luke Timmerman of the Timmerman Report had a refreshingly bold and introspective chat  this week with Alnylam CEO, John Maraganore with a call for the industry to  face itself: 

"LT: Who ARE you, really, as an industry?

JM: Yes, who ARE we as an industry? Martin [Shkreli] has got us all asking ourselves, ‘What is it all about?’ Oddly enough, I think it’s been good for the industry. I really do. What we are about as an industry is innovation, and patients. We’re about 21st century cures, not 1950s drugs. Most Americans, I think, appreciate that if you work really hard, and do something that is gigantic, you ought to get rewarded. Most Americans don’t like people that try to get rich quick, those who try to cheat the system. That’s why the distaste in people’s mouths with Turing, and maybe others like Valeant, is so appropriate. It doesn’t fit our work ethic. That’s the stuff we want to teach our children."



New to Mendelspod?

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

or skip signup