Tag Archives: fda

FDA Released Draft Guidance on 3D Printing

Boatloads of people and a brain computer interface — #3Dprinting & #Robohand folk at #MakeHealth

The FDA recently released draft guidance for those using 3D printing (also known as “additive manufacturing”) to create or modify medical devices.

Technical Considerations for Additive Manufactured Devices
Draft Guidance for Industry and Food and Drug Administration Staff
This guidance document is being distributed for comment purposes only.
Document issued on May 10, 2016.
http://www.fda.gov/downloads/MedicalDevices/DeviceRegulationandGuidance/GuidanceDocuments/UCM499809.pdf

This is a pretty interesting happening, and particularly interesting in the context of the maker movement, #DIYability, #InventHealth, #MakerNurse, and #MakeHealth. These are all concepts or movements driving the improvement of health and healthcare through engagement with the general public. This is where a lot of patients and the general public use creativity, insight, experience, and often various technologies such as 3D printing in order to craft custom solutions to interesting health challenges.

Here, at the University of Michigan, most of the press we’ve gotten around 3D and 4D printing has related to saving babies (in multiple ways) and making surgeries safer.

So, will the FDA guidance impact on people trying to make stuff at home, at work, in the hospital? Possibly. Actually, according to the strict interpretation of the current definitions, it sounds pretty likely. (Please, note, I am not a lawyer!) Here is one section on that aspect.

“Point-of-care device manufacturing may raise additional technical considerations. The recommendations in this guidance should supplement any device-specific recommendations outlined in existing guidance documents or applicable FDA-recognized consensus standards.”

So, this is talking about point-of-care, which would include pretty much all the maker communities I was mentioning above, but it’s really really vague. I’m not the only person who thinks so.

“Although the draft guidance is a start, there are still many unresolved regulatory issues that need to be addressed, especially as the technology continues to evolve and more innovative products are brought to market. One still-pressing, unanswered regulatory issue associated with 3D printing is how the FDA intends to approach non-traditional device manufacturers. As background, under the existing FDA regulatory framework, a manufacturer is defined broadly to include “any person who designs, manufactures, fabricates, assembles, or processes a finished device.” As 3D printers become increasingly accessible, a person (or entity) with a 3D printer does not need the financial capital, infrastructure, or resources historically associated with traditional manufacturing operations. While the draft guidance acknowledges point-of-care manufacturing, it does not provide much discussion on non-traditional entities, such as healthcare providers and suppliers becoming “manufacturers” of medical devices. … We also do not know how the FDA intends to resolve the legal and regulatory issues associated with point-of-care manufacturing.”
Matt Jackson, Kevin Madagan. FDA’S 3D Printing Draft Guidance Leaves Much Unresolved, Even More Unknown http://www.meddeviceonline.com/doc/fda-s-d-printing-draft-guidance-leaves-much-unresolved-even-more-unknown-0001

The next thing they mention, in the same paragraph, is biofabrication (which technically is less about making devices and more about 3d printing with biological “ink,” living cells, biomaterials, and such).

“In addition, this guidance does not address the use or incorporation of biological, cellular, or tissue-based products in AM. Biological, cellular or tissue-based products manufactured using AM technology may necessitate additional regulatory and manufacturing process considerations and/or different regulatory pathways. Therefore, all AM questions pertaining to products containing biologics, cells or tissues should be directed to the Center for Biologics Evaluation and Research (CBER).”

I’m actually relieved that they are leaving biofabrication alone for now, but it is not going to go away forever (nor should it). For people working at the intersectional spaces of 3D printing, where it combines with biologics, electronics, programmables, smart materials, and other materials with interactive potential, there is a possibility that content from this guidance may interact in unexpected ways with the other side of the work they are trying to do.

Here’s the good news.

“This draft guidance is a leap-frog guidance; leap frog guidances are intended to serve as a mechanism by which the Agency can share initial thoughts regarding emerging technologies that are likely to be of public health importance early in product development. This leap-frog guidance represents the Agency’s initial thinking, and our recommendations may change as more information becomes available.”

AND

“FDA’s guidance documents, including this guidance, do not establish legally enforceable responsibilities. Instead, guidances describe the Agency’s current thinking on a topic and should be viewed only as recommendations, unless specific regulatory or statutory requirements are cited. The use of the word should in Agency guidance means that something is suggested or recommended, but not required.”

So, don’t worry TOO MUCH just yet, but do please read this, consider how it might impact on work happening in your community, and consider replying to the draft guidance or filing comments. You may submit comments on the Technical Considerations for Additive Manufactured Devices Draft Guidance until August 8, 2016.

Additional reading

3D Printing of Medical Devices http://www.fda.gov/MedicalDevices/ProductsandMedicalProcedures/3DPrintingofMedicalDevices/default.htm

FDA Issues Long-Awaited 3D Printing Guidance for Medical Devices http://www.raps.org/Regulatory-Focus/News/2016/05/09/24901/FDA-Issues-Long-Awaited-3D-Printing-Guidance-for-Medical-Devices/

The FDA Releases Draft Guidance for Industry & Food & Drug Administration Staff Regarding 3D Printing https://3dprint.com/133570/fda-draft-guidance-3d-printing/

FDA releases long-awaited draft guidance for 3D printed medical devices http://www.3ders.org/articles/20160510-fda-releases-long-awaited-draft-guidance-for-3d-printed-medical-devices.html

Personalized Medicine, Biosensors, Mobile Medical Apps, and More

At the Quantified Self Meetup, someone was praising the Rock Health slides. Of course, I had to go explore and see what was so great. These are my favorites.

About FDA’s Guidance for Mobile Medical Apps

FDA 101: A guide to the FDA for digital health entrepreneurs by @Rock_Health: http://www.slideshare.net/RockHealth/fda-101-a-guide-to-the-fda-for-digital-health-entrepreneurs

I especially took note of slide 10, where they describe things I would think of as an app, but which do not qualify as such for FDA regulation. This is an important distinction I hadn’t previously considered. Slide 12 takes it further by describing the categories of regulation as based on risk to patients, with good clear examples. Slie 21 on “pro tips” would have really benefitted companies like 23andMe (even though that isn’t actually a mobile medical app, the pro tips still apply, and in spades).

Biosensing Wearable Tech

The Future of Biosensing Wearables by @Rock_Health http://www.slideshare.net/RockHealth/the-future-of-biosensing-wearables-by-rockhealth

This one definitely gets into topics relevant to the quantified self movement and self-tracking. Slide six emphasizes the shift from the low hanging fruit (fitness, pulse, sleep) to the long tail — more targeted solutions for specific challenges (hydration, glucose, salinity, skin conductance, posture, oxygenation, heart rhythm, respiration, eyetracking, brain activity, etc.). That’s really quite interesting, and it gives examples of companies working in each space.

Slides 19-24 get into several of the areas our own local meetup defined as challenges to success for companies working in this space and for the future success of the entire area — it has to work, easily, and dependably. Slides 27-30 extrapolate these challenges into the transition into healthcare environments.

Personalized Medicine

The Future of Personalized Health Care: Predictive Analytics by @Rock_Health http://www.slideshare.net/RockHealth/the-future-of-personalized-health-care-predictive-analytics-press Video https://www.youtube.com/watch?v=UJak41hIDWc

SLIDES

VIDEO

It’s probably safe to say that most individuals working in the quantified self / self-tracking space eventually end up struggling with the issue of how to use their data to anticipate avoidable problems. This idea can be translated into the jargon phrase of “predictive analytics.” Slide 11 does a nice job of lining this up with how traditional healthcare is practiced, which is very useful. Slide 12 places this in the context of big data resources, databases, and tools, listing several of the main players. This context is essential for making personal data relevant beyond the drawn out process of n=1 studies. Slide 14 identifies the BIG problem of how companies working in this space largely focus on hospitals and health care providers, and seem to have entirely missed the idea that patients are deeply and actively engaged in this space. And, frankly, there are more of us than them (even if our pockets aren’t as deep). I love the phrase on slide 18, “Symptom calculators are the “recommendation engines” of health care.” Most of the rest of the deck identifies challenges and opportunities, which I hope any entrepreneurial types would examine closely. Do notice that there is a video with this one. You can hear the entire webinar as well as reviewing the slides.

Concerns & Clarification on the FDA Guidelines for Social Media (#FDAsm)

FDASM: FDA on Social Media

Last Tuesday afternoon, there was a Twitter chat on the new FDA guidance on social media that was hosted by the medical librarians group (#MedLibs), but which engaged an audience that also included healthcare professionals, lawyers, and communication specialists. It was a very interesting chat that touched on concerns, assumptions, misunderstandings, clarifications, and resources. You will find many of these excerpted from the full conversation and highlighted below. First, though, here is a high level summary.

Concerns included the potentail for a “chilling effect” that might impact on education, innovation, professional and patient public communications, research and clinical trial recruitment; responsibility (who is responsible for what/when/where/how with respect to health social media communications); effectiveness of social media controls for their intended purposes and the costs/benefit assessments; the role of identity, honesty, and transparency in health social media communication; and whether the guidelines will promote inclusion or foster exclusion of relevant voices in useful conversations.

Clarifications sought: plain language summaries of the guidelines; description of the potential and expected impacts on various communities of practice, including health education and patients; the relationship and responsibilities of employers and employees in their social media identity management and communications; and the issue off-label use conversations outside of pharma entities.

Clarifications which appeared during the chat (but which are note from the FDA, and therefore not the authoritative word with respect to these issues): who is covered by the guidance; community and individual efforts to create plain language distillations of the guidance; context; and a reminder that freedom of speech does not equal freedom of consequences for that speech.

For Medical Librarians: role for medical librarians in supporting and demonstrating best practices in Twitter chats; role for medical librarians in supporting education around the FDA’s guidance for their institutions as well as for patients and the public; and a caution about medical librarians being potentially excluded from social media as part institutional image controls as well as potentially as an impact of the guidance.

Takeaways: how to format an FDA-style tweet; avoid creating branded accounts for free conversation; encourage individuals to create personal accounts that are not branded and are distinct from the brand; consider correction of health misinformation as an opportunity; avoid perception of “practicing medicine” on social media, but discussions are alright; consider commenting on the FDA draft guidelines before September 17.

In addition, the conversation included discussion of best practices for identifying tweets as representing personal opinion, as well as a rich collection of resources.

CONCERNS

CLARIFICATION NEEDED

CLARIFICATION RECEIVED

FOR MEDICAL LIBRARIANS

TAKEAWAYS

FURTHER QUESTIONS

RESOURCES

FDA On Social Media: Time to Pay Attention, Take Two

FDASM Campus Forum Feb 16SL: Virtual Ability: Introduction to the FDASM
FDASM Transcripts Wordle23andMe, reduced

Remember five or so years ago when we put together a campus event about the FDA call for input on social media guidance? I blogged about it a lot. I’m sure many of you are already aware of the new FDA Social Media draft guidelines that were, at long last, released last month.

Recently I heard an interview with David Harlow about the new draft guidelines. I was very surprised when I heard him say that the FDA sent a warning letter to a company for clicking “like” on a patient’s Facebook post. That seemed a bit over the top to me, although I confess I haven’t yet found the original warning letter. I had been inclined to just trust that after thinking about this so long, the FDA would come out with something helpful, but it sounds like that isn’t what happened. Responses from the drug companies seem to be along the lines of just avoiding the whole problem, if the FDA is going to be so challenging and confrontational. Responses from folk working actively in HCSM are that the FDA is not getting the point or purpose of social media engagement, and that the guidelines are sufficiently restrictive as to make it impossible to adhere to the specifications.

I know that I need to know more about this, and I believe that readers of this blog do also. The period for public comment is over in September, so there is very little time to respond. My fault — I should have paid closer attention to this sooner.

BACKGROUND

For context, I’d like to first remind people of the comments we filed with the FDA during the original call for comments. Where it sounds like things have broken down is with respect to our third point (#3): “the potential to be perceived as interfering with free speech of the public or creating an undue and insupportable burden for industry and the healthcare communities,” and to the concerns about use of social media within an educational framework.


FDA-2009-N-0441 Docket Comments, University of Michigan Public Forum: http://www.slideshare.net/umhealthscienceslibraries/fda2009n0441-docket-comments-university-of-michigan-public-forum

Here are my slides from five years ago, just to provide context for the background of the conversation.


FDA Social Media Guidelines – Introduction http://www.slideshare.net/umhealthscienceslibraries/fda-social-media-guidelines-introduction

Now, here are some links about where things stand today, plus the presentation by David Harlow, which I encourage you to watch.

DAVID HARLOW


FDA Social Media Changes that May Affect Healthcare https://www.youtube.com/watch?v=aEutmz0kFsM

#FDAsm – FDA Releases Draft Social Media Guidance Five Years After Public Hearing http://www.healthblawg.com/2014/06/fdasm-fda-releases-draft-social-media-guidance-five-years-after-public-hearing.html

FDA Social Media Guidance – Hangout on Air http://www.healthblawg.com/2014/07/fda-social-media-guidance-hangout-on-air.html

PUBLIC HEARINGS

2009: Public Hearing on Promotion of FDA-Regulated Medical Products Using the Internet and Social Media Tools: http://www.fda.gov/AboutFDA/CentersOffices/OfficeofMedicalProductsandTobacco/CDER/ucm184250.htm

July 10, 2014: Social Media Guidance Webinar – July 10, 2014: http://www.fda.gov/AboutFDA/CentersOffices/OfficeofMedicalProductsandTobacco/CDER/ucm403810.htm

FDA ANNOUNCEMENT

FDA Issues Draft Guidances for Industry on Social Media and Internet Communications About Medical Products: Designed with Patients in Mind http://blogs.fda.gov/fdavoice/index.php/2014/06/fda-issues-draft-guidances-for-industry-on-social-media-and-internet-communications-about-medical-products-designed-with-patients-in-mind/

Draft Guidance for Industry on Internet/Social Media Platforms: Correcting Independent Third-Party Misinformation About Prescription Drugs and Medical Devices; Availability http://www.gpo.gov/fdsys/pkg/FR-2014-06-18/html/2014-14221.htm

NOTE: This is where to file comments >>
[Docket No. FDA-2014-D-0447] Draft Guidance for Industry on Internet/Social Media Platforms: Correcting Independent Third-Party Misinformation About Prescription Drugs and Medical Devices; Availability https://www.federalregister.gov/articles/2014/06/18/2014-14221/draft-guidance-for-industry-on-internetsocial-media-platforms-correcting-independent-third-party

DRAFT GUIDELINES

Guidance for Industry: Internet/Social Media Platforms with Character Space Limitations— Presenting Risk and Benefit Information for Prescription Drugs and Medical Devices (June 2014) http://www.fda.gov/downloads/Drugs/GuidanceComplianceRegulatoryInformation/Guidances/UCM401087.pdf

Guidance for Industry : Internet/Social Media Platforms: Correcting Independent Third-Party Misinformation About Prescription Drugs and Medical Devices
http://www.fda.gov/downloads/Drugs/GuidanceComplianceRegulatoryInformation/Guidances/UCM401079.pdf

Guidance for Industry: Fulfilling Regulatory Requirements for Postmarketing Submissions of Interactive Promotional Media for Prescription Human and Animal Drugs and Biologics (Jan 2014) http://www.fda.gov/downloads/Drugs/GuidanceComplianceRegulatoryInformation/Guidances/UCM381352.pdf

#FDA vs #23andMe, Take Two — Hashtags of the Week (HOTW): (Week of December 9, 2013)

Last week we tracked opinions and responses with regards to the FDA warning letter sent to the direct-to-consumer personal genomics service, 23andMe. This week 23andMe officially announced that they are reducing the services they offer in response to the FDA’s warning letter.

23andMe, reduced

So what has been the reaction on Twitter? Let’s take a look at some of the most popular articles and examples of opinions.


First posted to THL blog: http://thlibrary.wordpress.com/2013/12/09/fda-vs-23andme-take-two-via-23andme-vs-the-fda-hashtags-of-the-week-hotw-week-of-december-9-2013/

Collecting Thoughts on the FDA vs. 23andMe

Lantern Slides: Heritance of Clefting

I’ve been reading many of the news articles and blogposts about the 23andMe / FDA controversy, and marking interesting points, agreements and disagreements, various perspectives. These are some of my favorite bits from the pieces that have come out so far. I have a distinct personal bias regarding this extremely complicated topic, but also have good friends on “the other side,” as well as having a professional commitment to attempt to be unbiased. In this collection of quotes and highlights, I try to not let my own bias interfere too much, and to fairly represent opinions both pro-FDA and pro-23andMe. Please note that, on both sides, there are extremists, who I found typically didn’t clearly express the complexity of the issues, thus most of the quotes excerpted below are from more moderate authors.


Pic of the Day - PGen
Thoughts on the FDA

“The Food and Drug Administration’s recent directive to the company 23andMe to stop marketing its genetic tests directly to consumers is a shortsighted, heavy-handed, double-standard act of paternalism.”

Marchant, Gary. The FDA Could Set Personal Genetics Rights Back Decades. Slate Nov. 26 2013 12:39 PM. http://www.slate.com/articles/technology/future_tense/2013/11/_23andme_fda_letter_premarket_approval_requirement_could_kill_at_home_genetic.html

“I am deeply frustrated by the simplistic narrative of OMG FDA BIG GUBBERMINT SILENCING DARING ENTREPRENEUR. It’s not that simple.”

Wilbanks, John. FDA’s Culture Is Mendelian Dominant Over 23andme’s Business Model. DEL-FI November 30, 2013. http://del-fi.org/post/68560843111/fdas-culture-is-mendelian-dominant-over-23andmes

“The outrage over the FDA’s treatment of 23andMe is the wrong response. We should be holding 23andMe accountable for the claims they make in marketing their product. Even a product with such great potential should have to support its claims with valid evidence.”

Curtiss, Chase. Here’s what health entrepreneurs can learn from 23andMe. The Verge Beat November 29, 2013 5:11 PM. http://venturebeat.com/2013/11/29/heres-what-health-entrepreneurs-can-learn-from-23andme/

“This incident highlights the tension between the paternalistic medical establishment that arose to deal with the dangers of 19th-century quack medicine, and a “techno-populist” element of American society pioneering personal health assessment and decision-making by leveraging new information technologies.”

Khan, Razib. The FDA’s Battle With 23andMe Won’t Mean Anything in the Long Run. Slate Nov. 25 2013 2:46 PM. http://www.slate.com/blogs/future_tense/2013/11/25/fda_letter_to_23andme_won_t_mean_anything_in_the_long_run.html

“If the F.D.A. indeed insists on making 23andMe prove beyond doubt the validity of every single correlation, no genetic-testing service will be able to economically deliver medically relevant genetic information directly to consumers. It will destroy the industry and leave medical genetics in the hands of a medical establishment that has already failed to give people an easy way to obtain and use the elemental information in their own spit.”

Dobbs, David. The F.D.A. vs. Personal Genetic Testing. New Yorker November 27, 2013. http://www.newyorker.com/online/blogs/elements/2013/11/the-fda-vs-personal-genetic-testing.html

“Years ago, the FDA used the same argument against selling blood glucose meters to patients with diabetes. I believe that the FDA is wrong in saying that data in the hands of patients will do damage.”

Bartlett, Ann. Genetic Testing and the FDA. Health Central Wednesday, November 27, 2013. http://www.healthcentral.com/diabetes/c/9993/164554/genetic-testing-fda?ap=2008

“FDA acted properly in view of 23andMe’s cavalier attitude toward its regulatory obligations and its failure to meet past commitments. However, it would be a setback for science if 23andMe were not allowed to proceed. For its research model to deliver, it needs more people, far more people in its database. A campaign to sign up a million customers is a good start, and not losing momentum is essential. Perhaps 23andMe and FDA can find an accommodation — such as a consent order — that allows 23andMe to move forward while catching up on its overdue obligations, under threat of financial penalties or even perhaps the licensing of its database.”

Munos, Bernard. 23andMe: A Fumbling Gene In Its Corporate DNA? Forbes 11/29/2013 @ 10:19AM. http://www.forbes.com/sites/bernardmunos/2013/11/29/23andme-a-fumbling-gene-in-its-corporate-dna/

“It reads like the letter of a jilted lover,” Misha Angrist, a former genetic counsellor who writes about personal genomics and teaches at Duke University, said. “ ‘We went on fourteen dates! We exchanged all these e-mails! We held hands in the park! Now you’re telling me, “F*** you,” and kicking me to the curb.’ ”

Dobbs, David. The F.D.A. vs. Personal Genetic Testing. New Yorker November 27, 2013. http://www.newyorker.com/online/blogs/elements/2013/11/the-fda-vs-personal-genetic-testing.html

“Though the FDA talks up progress, there is a risk that it may slow it down. The agency is weighing regulations on test kits sold directly to consumers, laboratory tests and software that analyses raw genetic data. It is clear that 23andMe is not the only testing firm in its sights.”

And the FDA: A regulator brings a genetics company to a halt. Economist Nov 30th 2013. http://www.economist.com/news/business/21590941-regulator-brings-genetics-company-halt-and-fda

“Is the FDA and the rest of the medical establishment too conservative about innovation and health data that consumers can get directly? Well… is the Pope Catholic?”

MacManus, Richard. Thoughts On 23andMe & The FDA. November 27, 2013. http://ricm.ac/2013/11/27/thoughts-on-23andme-the-fda/

“I asked Dr. Hamburg if she were to have any power that FDA currently lacks, what would it be? The central thesis of her reply was: “I also think we need to find a way – maybe it’s just completely unrealistic – where we can have more flexibility in the system so that every time there’s a crisis or a recognition of a need to do more…we don’t have to go through the process of seeking new legislation.””

Kroll, David. Why The FDA Can’t Be Flexible With 23andMe, By Law. Forbes 11/28/2013 @ 8:45AM. http://www.forbes.com/sites/davidkroll/2013/11/28/why-the-fda-cant-be-flexible-with-23andme-by-law/


PGEN, Take 2
Thoughts about 23andMe

“Either 23andMe is deliberately trying to force a battle with the FDA, which I think would potentially win points for the movement the company represents but kill the company itself, or it is simply guilty of the single dumbest regulatory strategy I have seen in 13 years of covering the Food and Drug Administration.”

Herper, Matthew. 23andStupid: Is 23andMe Self-Destructing? Forbes 11/25/2013 @ 3:51PM. http://www.forbes.com/sites/matthewherper/2013/11/25/23andstupid-is-23andme-self-destructing/

“On the Twitterz, I wrote that 23andMe’s attorneys should be disbarred for letting things reach this point. Interestingly, it appears that General Counsel left the company several weeks ago (and no replacement has been found). I’m not always a big fan of the FDA (they still haven’t really figured out how to approve new antibiotics), but the reality is that the FDA is like those humongous tractors used to move space rockets: they’re slow, but crush everything in their path. You can’t bullshit these guys–they just keep coming.”

Mike. Some Thoughts on the FDA Action Against 23andMe.com. Mike the Mad Biologist November 26, 2013. http://mikethemadbiologist.com/2013/11/26/some-thoughts-on-the-fda-action-against-23andme-com/

“The consequences of mistakes by 23andMe can be deadly serious. If it reports a “false positive” for a major disease, that can alter someone’s whole life (though I’m rather sure that any medical professional would obtain results from another service to confirm positive results).”

Khan, Razib. The FDA’s Battle With 23andMe Won’t Mean Anything in the Long Run. Slate Nov. 25 2013 2:46 PM. http://www.slate.com/blogs/future_tense/2013/11/25/fda_letter_to_23andme_won_t_mean_anything_in_the_long_run.html

“But as the FDA frets about the accuracy of 23andMe’s tests, it is missing their true function, and consequently the agency has no clue about the real dangers they pose. The Personal Genome Service isn’t primarily intended to be a medical device. It is a mechanism meant to be a front end for a massive information-gathering operation against an unwitting public.”

Seife, Charles. 23andMe Is Terrifying, But Not for the Reasons the FDA Thinks. Scientific American November 27, 2013. http://www.scientificamerican.com/article.cfm?id=23andme-is-terrifying-but-not-for-reasons-fda

“Some experts claim that the risk of ailments like Type 2 diabetes can only be partially calculated based on genetic information. A credible diagnosis would require understanding a lot more about the person’s lifestyle and health history. Promoting a do-it-yourself culture when talking about serious health concerns like cancer and heart disease might have major downsides. However, the opinion in favor of 23andMe is that a dangerous double standard is at work. Today a doctor can sell many types of genetic tests to a patient, at a much higher cost. Only a few have received FDA approval. So why penalize the direct-to-consumer model?”

Kaushik, Preetam. FDA vs. 23andMe: The DNA of a disagreement. All Voices Nov 29, 2013 at 8:35 PM PST. http://www.allvoices.com/contributed-news/16062954-fda-vs-23andme-the-dna-of-a-disagreement

“However, according to one expert, the accuracy of the test is not the biggest issue. The company’s testing methods have been found to meet federal standards for lab testing, called Clinical Laboratory Improvement Amendments (CLIA), said Amy Sturm, a genetic counselor at The Ohio State University Wexner Medical Center. A greater problem is that the results provide “a very incomplete view” of a person’s risk for a given disease, Sturm said.”

Rettner, Rachel. 23andMe: What’s Really Wrong with Personal Genetic Tests. November 26, 2013 01:55pm ET. http://www.livescience.com/41534-23andme-direct-to-consumer-genetic-test-shortcomings.html

“Unfortunately, due to all the complex interactions between the markers, this full unravelling is impossible. The number of interactions is probably so high that every patient will have his or her own unique complex cause of disease. And what has never happened cannot be identified or predicted by big data. Advances in genome science will improve what tests offer, but these improvements will be small. While the hope is based on big data, the reality is that most diseases are simply not genetic enough. Other risk factors such as diet, body weight, smoking, exercise and stress are too important. And big data cannot change the biology of diseases – it will not make them more genetic.”

Janssens, Cecile. It is game over for 23andMe, and rightly so. Pando Daily November 27, 2013. http://pando.com/2013/11/27/it-is-game-over-for-23andme-and-rightly-so/

“It’s not all 23andMe’s fault. In my book research, I’ve read a lot about personal genomics. And the more I read up on genetics, epigenetics, etc., the more I see that the scientific community still has very little clue about what actually causes disease.”

MacManus, Richard. Thoughts On 23andMe & The FDA. November 27, 2013. http://ricm.ac/2013/11/27/thoughts-on-23andme-the-fda/

“THAT is the future. The DTC SNP chip era is ending. 23andMe’s two main competitors, Navigenics and deCODEme, already left the market. 23andMe’s SNP chips are slipping rapidly into the past. And 23andMe knows it.”

Greely, Hank. The FDA Drops an Anvil on 23andMe – Now What? Stanford Law School Blog November 25, 2013 http://blogs.law.stanford.edu/lawandbiosciences/2013/11/25/the-fda-drops-an-anvil-on-23andme-%E2%80%93-now-what/

“As to what will happen now is actually very simple. 23&Me will have to either file as a diagnostic and go through medical approval (which will cost millions of dollars) or start to only offer their service through a medical practitioner, more than likely through a clinical geneticist that can walk a patient through the intricacies of genetics and disease. The problem though is that according to the US News, there are only 358 clinical geneticists currently practicing in the United States. Measure the knowledge dissemination of a clinical geneticist, who usually only sees patients through referral, to the marketing power of a Google backed company like 23&Me, that was gearing up for a television marketing campaign: the outcome is a nail in the proverbial coffin for recreational genomics. As for 23&Me, its problems will only worsen as it will struggle to validate itself through the FDA since genomics is still in its infancy, thus: RIP the only viable, scalable consumer genetics company in the world.”

Pablo, Juan. What is next for Direct to Consumer Genetics. 1EQ Nov. 27, 2013. http://1eq.me/blog/?p=182

“We’re ignoring the bigger issue! The real reason 23andMe can’t test for my mutation is the company who formerly held a patent on BRCA1 and BRCA2 still has a proprietary database of our genetic mutations, and they aren’t sharing it with anyone! We need to fix THIS. We need for the government to help us figure out how data can be shared rather than be treated as a trade secret.”

Andrea. FDA B*tchslap of 23andMe: A BRCA Previvor’s Perspective. Brave Bosom November 26, 2013. http://www.bravebosom.com/fda-btchslap-of-23andme-a-brca-previvors-perspective/

“23andMe is simply doing what the Internet does best: forcing old dogs to learn new tricks. That’s what the fight between Uber and taxicab commissions is about. Same for AirBnB and hotel regulators. The only profession slower to change how they do things than doctors is bureaucrats. So the FDA’s reaction is understandable — but misguided.”

Szoka, Berin. FDA Just Banned 23andMe’s DNA Testing Kits, and Users Are Fighting Back. Huffington Post 11/26/2013 7:46 pm. http://www.huffingtonpost.com/berin-szoka/fda-just-banned-23andmes-_b_4339182.html


23andMe Celiac Disease Risk Markers
Thoughts about Regulation of Personal Genetic/Genomic Services

“We need DTC screening. It helped me. It’ll help many others. But until the FDA learns how to deal with Bayes’s rule and its discomforts – and until DTC companies figure out a business model that isn’t based on massive loss leadership – we’re going to keep coming back to this clash of culture and business models. Both sides need to make some changes if we’re going to avoid doing this over, and over, and over.”

Wilbanks, John. FDA’s Culture Is Mendelian Dominant Over 23andme’s Business Model. DEL-FI November 30, 2013. http://del-fi.org/post/68560843111/fdas-culture-is-mendelian-dominant-over-23andmes

“23andMe embodies a generation preoccupied with itself. Our right to know has superseded our ability to understand. Empowerment has evolved as data, information, knowledge and wisdom are almost seen as one in the same. Whether 23andMe’s reporting is actionable is to miss the point. When you’ve got your data, what more do you need, really? Epigenetics…what epigenetics?”

Vartabedian, Bryan. 23andMe – Why Our Big Government is Right. 33 Charts November 28, 2013. http://33charts.com/2013/11/23andme-government-is-right.html

“As a citizen, I expect corporate transparency for any new health product. As a patient, I think the risks of taking the test outweigh the benefits for my health. As a doctor, I have my concerns for people with distress or misinformation from results of an unproven genomic test. As a human being, I worry about misuse and unintended social consequences of our genetic heritage.”

Matthew Katz on 23andMe: “Return to Sender, Genome Unknown: Seven Reasons I Will Return My Personal Genome Kit.” e-patients.net December 3, 2013. http://e-patients.net/archives/2013/12/matthew-katz-on-23andme-return-to-sender-genome-unknown-seven-reasons-i-will-return-my-personal-genome-kit.html#!

“Our society has increasing information and public access to information. While it is difficult for me to think that this isn’t a good thing overall, we have to thoughtfully consider the possible unintended negative consequences. This case is part of a larger pattern of sacrificing quality-control filters for the sake of open access. This increasingly puts the burden on the public to make sense of sometimes complex and technical information. Everyone, now, can be their own geneticist.”

Novella, Steven. The FDA and Personalized Genetic Testing. Science Based Medicine November 27, 2013. http://www.sciencebasedmedicine.org/the_fda_and_personalized_genetic_testing/

“Community forums and news sites across the web exploded with debate, with most people rallying to 23andMe’s defense. The company’s ample support-base claims that the Food and Drug Administration is over-regulating, and is stifling innovation. However, the majority of geneticists and medical professionals I’ve spoke with have sided with the Food and Drug Administration, arguing that many patients require genetic counseling after receiving DNA test results that point to a high risk of cancer and other life-threatening conditions.”

Farr, Christina. Here’s why the FDA is targeting 23andMe. MedCityNews November 26, 2013 10:00 am http://medcitynews.com/2013/11/heres-fda-targeting-23andme/

“When 23andMe sent us our results, we followed their advice: we asked our doctor to talk about them. Most doctors didn’t know where to begin. But the more of us ask about 23andMe, the more the medical profession is catching up. Slowly but surely, they’re brushing up on genomics, taking the time to understand the site, and talking to us about our results and what, if anything, to do about them.”

Szoka, Berin. FDA Just Banned 23andMe’s DNA Testing Kits, and Users Are Fighting Back. Huffington Post 11/26/2013 7:46 pm. http://www.huffingtonpost.com/berin-szoka/fda-just-banned-23andmes-_b_4339182.html

“If you scare somebody into believing they’re high risk, they could take actions that hurt their health,” says Gutierrez. Not only is the data on some genetic links inconclusive, he adds, it’s well-chronicled that patients can push their doctors into authorizing unnecessary procedures. “Doctors do a lot of double mastectomies because of fear.”

Brady, Diane. Do Genetic Tests Need Doctors? FDA Defends Its Challenge to 23andMe. Business Week November 27, 2013. http://www.businessweek.com/articles/2013-11-27/do-genetic-tests-need-doctors-fda-defends-its-challenge-to-23andme#r=hp-lst

“Should this third party be a doctor, as some (mostly doctors) are arguing? There are certainly doctors out there who have a great grasp of human genetics. But there aren’t a lot of them. And even the doctors who do know the world of human genetics inside and out aren’t in a position to help people navigate every nook and cranny of their genome. This is a job for software, not for people.”

Eisen, Michael. FDA vs. 23andMe: How do we want genetic testing to be regulated? November 26, 2013. http://www.michaeleisen.org/blog/?p=1480

“This is a broad cautionary tale,” says Quackenbush. “We need to be careful about how we define phenotypes, such as whether a patient is likely to respond to a drug or have an adverse event, because if we don’t do it well, we’re not going to have good tools for advancing personalized medicine.”

Hayden, Erika Check. Personalized cancer treatments suffer setback. NATURE 27 November 2013. http://www.nature.com/news/personalized-cancer-treatments-suffer-setback-1.14238


OTHER COLLECTIONS

Alexander, Lindsey. Six smart takes on the 23andMe FDA standoff. MedCityNews November 27, 2013 11:58 am. http://medcitynews.com/2013/11/smart-takes-23andme-fda-standoff/

Dobbs, David. I Got Your 23andMe – FDA Food Fight Links Right Here. Neuron Culture November 30, 2013. http://daviddobbs.net/smoothpebbles/i-got-your-23andme-v-fda-links-right-here/

Exploding & Exploring #PGSethics (via #23andMe vs the #FDA) — Hashtags of the Week (HOTW): (Week of December 2, 2013)


RiskBites: 23andMe, FDA and DNA health profiling: http://www.youtube.com/watch?v=VZXDtTNqDuQ

As you’ve probably already heard, on November 22nd the FDA sent a Warning Letter to the personal genomics company 23andMe. As someone who has participated in clinical studies about personal genomics and blogs (occasionally) about this area, my social media streams have been EXPLODING!

Just through Twitter (for which it is easier to grab numbers), in the past 3 days there have been over two thousand more posts mentioning 23andMe, and over 500 new mentions in my own Twitter interactions stream. I cannot keep up, I can’t read them all, much less reply. Friday night the conversation was burning the wires, and I finally had to stop to sleep. I promised I’d get back to folk in the morning. In the morning, I had 250 new interactions. While I tried to read those, I made it through about 50, and in that time another 163 had arrived. During the conversations, a number of us decided we had so many folk in the conversation we needed a new hashtag to corral the content. We decided to use #PGSethics for “Personal Genomics Services, Ethics.” Obviously, this is the topic of the moment, but this blog post is going to require being extremely selective to merely hint at the boundaries of the conversations occurring even as I write this. Also, because the very nature of the topic is enormous, with complex issues, much of the conversation is shifting back and forth between Twitter and blogs. Analyzing all this will make a fabulous doctoral dissertation for someone!

Here are the main hashtags I am using to track this, BUT with a huge caveat. Most of the conversation is not happening through hashtags right now, and I seem to be being cc’d on much of several conversations. And since many of the most pungent comments don’t even include the word “23andMe” the only way to really find what people are saying is by sheer brute force digging. Still, this is a start.

#23andMe: https://twitter.com/search?q=%2323andme&src=typd
#FDA: https://twitter.com/search?q=%23FDA&src=typd
#PGSethics: https://twitter.com/search?q=%23PGSethics&src=hash


First posted at: THL Blog http://wp.me/p1v84h-1yJ

ECigs: ETech Meets Public Health Again (Part Two)

[For information on why I’ve been missing-in-action here, please see this post at my personal blog: http://mhistoire.wordpress.com/2013/05/25/breathing-in-memory-of-rose-ann-broussard-cooper-anderson/ I expect to be back in business next week.]


So, in Part One, the eCig conversation was largely framed through health and legislative perspectives, with concerns hooked substantially on potential use by minors and young adults. In part two, I want to dig a little deeper into some of these issues, and spin off in new directions, mostly workplace use, more about minors, and issues of DIY and unintended uses of e-cigs.

I keep saying how complicated is the issue of electronic cigarettes. This tweet illustrates part of that.

The American Cancer Society (ACS) is one of the organizations most strongly advising caution with respect to e-cigs, and perceived as “the opposition” by the e-cig and vaping communities. Obviously, given that at least one person at their event was using an e-cig, this is not a topic with complete consensus, but it is also close enough to consensus to raise eyebrows and warrant comment. The issues are further complicated by the ACS accepting donations from e-cig manufacturers.

Similarly, despite the prolific and prominent vitriol from the vaping community regarding any suggestion that e-cigs warrant further research or concern or caution, there are elements of that community willing to work with the government and professional medical organizations on exactly those areas.

Growing Electronic Cigarette Manufacturer “Welcomes” FDA’s “Reasonable Regulation” Of Category:
http://www.prnewswire.com/news-releases/growing-electronic-cigarette-manufacturer-welcomes-fdas-reasonable-regulation-of-category-204121851.html

Given that e-cigs are an emerging technological alternative to the issue of smoking and that smoking in public spaces and the workplace has been a major issue over the past few decades, it’s no real surprise that there are guidelines and suggestions being created to advise employers about best practices for managing e-cigs in the workplace. Given that my own campus, University of Michigan, only recently went smoke-free (July 1, 2011), and that several of my friends are still struggling to make the switch, I expect that this is an issue worthy of local attention.

What employers need to know about electronic cigarettes? Fact Sheet, September 2011. (pdf)
http://www.businessgrouphealth.org/pub/f311fb03-2354-d714-51a9-0b67bb588666
Main points:
Quick Facts About E-Cigarettes
• Not an FDA-approved tobacco cessation device.
• Contain nicotine and detectable levels of known carcinogens and toxic chemicals.
• Look very similar to regular cigarettes (especially from a distance).
• Manufactured using inconsistent or non-existent quality control processes.
Actions for Employers
• Determine whether the use of e-cigarettes is allowed in their jurisdictions, including in the workplace.
• Understand whether unions, works councils, or other laws can raise barriers to implementing workplace
policies regulating e-cigarettes.
• Stay informed on any new laws and emerging scientific evidence regarding e-cigarettes.

Please note the date on those tips, and that they haven’t been updated, although the conversation is far from over!

Sullum, Jacob. Boston Bans E-Cigarettes in Workplaces, Just Because. Dec. 2, 2011 http://reason.com/blog/2011/12/02/boston-bans-e-cigarettes-in-workplaces-f

American Society for Quality: Should e-Cigarettes Be Allowed in the Workplace? April 15, 2013 http://asq.org/qualitynews/qnt/execute/displaySetup?newsID=15801

One marketing firm addressed a sort of a case study of why one life insurance firm in Britain banned e-cigs at work, arguing against each of the points.


Should electric cigarettes be allowed in the workplace http://www.slideshare.net/jackwillis2005/ppt-should-e-cigarettes-be-allowed-in-the-workplace

Here are a couple links with pro and con information about the Standard Life policy decision. A major point seems to be the psychology of e-cig use, that because of their resemblance to real cigarettes they give the message that smoking is a good thing or at least permissible. I am not aware of any research into this assumption, although there is substantial evidence on the related concept of candy cigarettes.

The Scotsman: Standard Life bans employees from smoking electronic cigarettes at work (2012): http://www.scotsman.com/the-scotsman/health/standard-life-bans-employees-from-smoking-electronic-cigarettes-at-work-1-2124568

Daily Mail: Safety fears over electronic cigarettes because they are ‘unclean’ and unregulated: http://www.dailymail.co.uk/health/article-2129550/Safety-fears-electronic-cigarettes-unclean-unregulated.html

And a couple pieces about the psychological impact candy cigarettes. Consider, though, that the research on candy cigarettes is looking explicitly at the impact on children, not adults.

Klein JD, Forehand B, Oliveri J, Patterson CJ, Kupersmidt JB, Strecher V. Candy cigarettes: do they encourage children’s smoking? Pediatrics. 1992 Jan;89(1):27-31. http://www.ncbi.nlm.nih.gov/pubmed/1728016

Klein JD, Clair SS. Do candy cigarettes encourage young people to smoke? BMJ. 2000 Aug 5;321(7257):362-5. http://www.ncbi.nlm.nih.gov/pubmed/10926600

Klein JD, Thomas RK, Sutter EJ. History of childhood candy cigarette use is associated with tobacco smoking by adults. Prev Med. 2007 Jul;45(1):26-30. Epub 2007 Apr 24. http://www.ncbi.nlm.nih.gov/pubmed/17532370

Back to the American Cancer Society, and the issue of minors having access to e-cigs.

Anti-THR Lies and related topics: Who leads the fight against banning e-cigarette sales to minors? Guess again: it is the American Cancer Society: http://antithrlies.com/2013/04/25/who-leads-the-fight-against-banning-e-cigarette-sales-to-minors/

As with everything surrounding the e-cig controversies, it’s never straightforward, and there are always multiple views with value. This tweet was in response to my Part One blogpost on e-cigs.

The links highlight the work of Dr. Michael Siegel, Professor, Department of Community Health Sciences, Boston University School of Public Health.

Dr. Siegel:
“I do not question the need to balance the benefits of enhancing smoking cessation among adult smokers with the costs of youth beginning to use this nicotine-containing product. But show me at least one youth using the product before you call for a ban. This recommendation makes a mockery out of the idea of science-based or evidence-based policy making in tobacco control.”
The Rest of the Story: Tobacco News Analysis and Commentary: American Legacy Foundation Sounds Alarm About Electronic Cigarette Use Among Young People, Calling for a Ban on Flavored E-Cigarettes, But Fails to Document a Single Youth Using These Products http://tobaccoanalysis.blogspot.com/2013/04/american-legacy-foundation-sounds-alarm.html

In response to:

““While most candy-flavors – such as chocolate, vanilla and peach – were banned in 2009 from cigarettes, flavored tobacco products like cigars, hookah, snus and e-cigarettes persist in more than 45 flavors and are still legally on the market,” said Andrea Villanti, PhD, MPH, CHES, Research Investigator for Legacy. “These products can be just as appealing to young people as flavored cigarettes, offering a product appearing to be more like candy to those most at-risk of becoming lifelong tobacco users,” she added.”
FDA Should Extend Ban on Flavors to Other Products to Protect Young People, April 3, 2013 http://legacyforhealth.org/newsroom/press-releases/flavored-tobacco-continues-to-play-a-role-in-tobacco-use-among-young-adults

“Overall, 18.5% of tobacco users report using flavored products, and dual use of menthol and flavored product use ranged from 1% (nicotine products) to 72% (chewing tobacco). In a multivariable model controlling for menthol use, younger adults were more likely to use flavored tobacco products (OR=1.89, 95% CI=1.14, 3.11), and those with a high school education had decreased use of flavored products (OR=0.56; 95% CI=0.32, 0.97). Differences in use may be due to the continued targeted advertising of flavored products to young adults and minorities. Those most likely to use flavored products are also those most at risk of developing established tobacco-use patterns that persist through their lifetime.”
Villanti AC, Richardson A, Vallone DM, Rath JM. Flavored Tobacco Product Use Among U.S. Young Adults. American Journal of Preventive Medicine 44(4):388-391, April 2013 http://www.ajpmonline.org/article/S0749-3797(12)00939-7/abstract

Dr. Siegel:
“But I don’t think most anti-smoking groups or advocates care about the actual evidence. They’ve already made up their minds. Vaping looks too much like smoking. So forget about the fact that not a single nonsmoking youth could be found who has even tried the product. The advocates must continue to follow the party line and warn about the danger of electronic cigarettes as a gateway to nicotine addiction. Never mind that the gateway just doesn’t exist.”
The Rest of the Story: Tobacco News Analysis and Commentary: New Study on Electronic Cigarette Use Among Youth Fails to Find a Single Nonsmoking Youth Who Has Even Tried an Electronic Cigarette: http://tobaccoanalysis.blogspot.com/2013/01/new-study-on-electronic-cigarette-use.html

In response to:

“E-cigarettes are battery-powered devices that look like cigarettes and deliver a nicotine vapor to the user. They are widely advertised as technologically advanced and healthier alternatives to tobacco cigarettes using youth-relevant appeals such as celebrity endorsements, trendy/fashionable imagery, and fruit, candy, and alcohol flavors [2], [3]. E-cigarettes are widely available online and in shopping mall kiosks, which may result in a disproportionate reach to teens, who spend much of their free time online and in shopping malls.”
Grana, Rachel A. Electronic Cigarettes: A New Nicotine Gateway? Journal of Adolescent Health 52(2):135-136, February 2013.
http://www.jahonline.org/article/S1054-139X(12)00736-7/fulltext
[NOTE: Check out the bibliography]

“Only two participants (< 1%) had previously tried e-cigarettes. Among those who had not tried e-cigarettes, most (67%) had heard of them. Awareness was higher among older and non-Hispanic adolescents. Nearly 1 in 5 (18%) participants were willing to try either a plain or flavored e-cigarette, but willingness to try plain versus flavored varieties did not differ. Smokers were more willing to try any e-cigarette than nonsmokers (74% vs. 13%; OR 10.25, 95% CI 2.88, 36.46). Nonsmokers who had more negative beliefs about the typical smoker were less willing to try e-cigarettes (OR .58, 95% CI .43, .79)."
Pepper JK , Reiter PL , McRee A-L , Cameron LD , Gilkey MB , Brewer NT . Adolescent males' awareness of and willingness to try electronic cigarettes. J Adolesc Health . 2013;52:144–150. http://www.jahonline.org/article/S1054-139X(12)00409-0/abstract

Wow. All smart people, working in or from the peer-reviewed literature, but with varying interpretations. For more information about flavors in e-cigs, check out these e-cig review and information sites.

Vapor Rater: http://www.vaporrater.com
Vapour Trails: http://www.vapourtrails.tv

The first thing I saw that actually sparked a moment of interest in e-cigs for me personally was the idea that you can make your own at home. I’m not a smoker, but I’m also not much of a drinker. I am, however, addicted to canning, pickling, and otherwise preserving produce and home goods. I go so far as to even make my own fruit shrubs as beverage mixes for my friends who do drink, even though I don’t partake. If you could convince me that e-cigs were safe and healthy and all that, you could tempt me to want to learn how to mix the vaping liquid for my friends, even if I don’t use it myself.

RTS Vapes: Lab Safety when Mixing Liquid Nicotine: http://rtsvapes.blogspot.com/2012/09/lab-safety-when-mixing-liquid-nicotine.html

A brief detour down memory lane. When I was in high school I remember vividly a change in what and who was “cool” between sophomore and junior years. During freshman and sophomore years, the cool kids, the influencers, were those who snuck off into corners to make out and have sex. In junior and senior years it was no longer sex but drugs that was cool, and a lot of the smartest kids in school adopted drugs, creating and using intellect, technology, and creativity to explore this “counter-culture” area. In chemistry class, one of the top students used the chem lab to gold-plate a baby marijuana leaf into a pickle fork. A pair of National Merit Scholars broke into the high school academic system to do a statistical analysis comparing the IQs of known street drug users compared to street drug ‘virgins’ among the student population, with the drug users ‘proven’ to have the highest IQs. There was a perception that drugs weren’t just cool, but smart. I don’t know, but it would not surprise me to find that high school students today are also inquisitive and creative with exploring new technologies that allow them to buck the status quo. It is with that in mind that I read these next tweets.


Portable Vaporizer – Marijuana Pot Herbal Portable Vaporizers http://www.youtube.com/watch?v=vs6AjEXcOok

For the record, I am a supporter of the legalization of marijuana, and it makes sense that if e-cigs are safer to want to extend those health benefits to persons who smoke anything recreationally. I’m not opposed to e-cigs, either, but do think there are benefits to information, education, and appropriate legislation. There are really two main questions. One, this is a new technology, and we don’t know that much about it. E-cigs were invented in 2004, and there simply hasn’t been time to fully research the technical, physical, and psychological health impacts of use. That is a problem for most new and emerging technologies, and we don’t have a solution for that at this point. The other main question is really about minors. So, the argument from Dr. Siegel is that youth don’t use e-cigs. Are you sure?

Rare Disease Innovation Driven By and Driving Open Science

PICT0029.JPG

When you hear the word “rare”, don’t you instinctively think of something precious, something unique and valuable, treasured and guarded and preserved with great care and tenderness? I do. The image above is of a medical magical amulet from the famed collection by Dr. Campbell Bonner.

An amulet is, “any object which by its contact or close proximity to the person who owns it, or to any possession of his, exerts power for his good, either by keeping evil from him and his property or by endowing him with positive advantages.” (According to Dr. Bonner’s definition, Bonner, C. Studies in Magical Amulets. Ann Arbor: University of Michigan Press, 1950. p. 2.)

Magical Amulets: http://www.lib.umich.edu/magical-amulets

I was working on the next installment of the Bubble/Blur series, but today is Rare Disease Day. A pretty special day, and pretty near and dear to my heart. Any time I wasn’t in meetings today, I was probably watching the inaugural NIH Rare Disease Day webcast, which was held partly in honor of the 20th anniversary of the existence of the NIH Office of Rare Disease Research. The event went on all day, and continues tomorrow.

Rare Disease Day @ NIH: https://events-support.com/events/Rare_Disease_Day/page/242

I didn’t get to see as much as I wanted. Not to diminish the other wonderful presentations that excited me so much throughout the day, but the most powerful part was at the end of the day, with the screening of the documentary “Here. Us. Now.”

Leading up to the screening, it was obvious from the atmosphere (which conveyed to me a sense of approaching awe) that the event planners knew we were about to see something very, very special.


Here. Us. Now. http://globalgenes.org/here-us-now/ Trailer: https://www.youtube.com/watch?v=LPK6pGFHAa0

“The Hempels’ story reveals the grim truth that rare disease is all too commonplace. Despite unprecedented investment in medical research and development, there are thousands of known rare diseases and disorders without treatments and cures. It’s a broken system moving at a tedious pace, and it leaves heart-rending personal stories in its wake.”

Both parents were experts in business with little knowledge of healthcare before their daughters were diagnosed with a rare fatal genetic disease (Niemann Pick Type C). Guess what? They are now the experts. They used their expertise in business to create what they describe as essentially a new business, a start up. It sounds almost like a “House that Jack Built” kind of story. The business focuses explicitly on doing the needed research, to share the results, to foster the necessary innovation, to drive the discoveries, to save their daughters’ lives.

What I was hearing as I listened and watched the movie were arguments in favor of a wholesale revisioning of the methods and practice and institutions of science, healthcare, publishing, and the governmental oversight agencies responsible for all of these. I want very much to have a chance to see the entire movie. I want to watch it closely. I want the DVD. I want to show it to people. I want to have a viewing here at the University of Michigan. I haven’t seen the entire movie, and I already want it to be required viewing for a wide range of people.

So you can better understand why I feel this way, I want to share just a few snippets of the ideas that most captured my attention in the tweets I sent while watching it, listening to them tell the story of the many barriers they encountered, and the solutions they created with determination, focused intent, planning, love, effort, and lots and lots of money; and the ways they used what they learn to advance the research in this area around the world, strategies they’ve share with other parents and families who share in these explorations and trials.

This is the story of one family. But this is also a story that encompasses virtually every major trend currently emerging in science and healthcare — the need for open access and open science, the empowered patient movement, personalized medicine, the difficult dynamic between transparency and privacy in healthcare and research, the shifting dynamic of how scholarship is defined and how knowledge is shared and how communities are built. These two parents have been transformed by their experiences with rare disease, have seized on to anything and everything that will let them make the difference they are trying to make. As a result, they are not just changing life for their own family, but for countless others. As they tell their story, they continue to change attitudes toward what is best practice in science research and healthcare innovation.

Another friend of mine said it rather well. This is not just what this one family is doing, although the story of the Hempel Family really is a lodestone for the entire conversation, but it is bigger than them. That is because all around the globe, every day, there are other patients and families doing the same kinds of things. Maybe not at the same scale or with the same scope, but trying to change things for themselves and others with their disease. Doing their own research and sharing it. Educating their doctors, who are NOT the experts in these rare conditions. Educating other patients on how to educate their healthcare team. And on and on. And what happens?

For the Hempels, they found not a cure, but a treatment. Something that helps. They were able to find friends and allies who helped them push it through the system, and get FDA approval to use this to help improve the quality of life for their children, and for others with the same condition. It really IS like magic. For the rest of us?