Bon Ku, MD, a regular on the TV show “Chasing the Cure,” and David Fajgenbaum, MD, MBA, author of CHASING MY CURE, invited me to join their upcoming panel at the Health Datapalooza. Guess what title we chose? We are nothing if not consistent: Chasing cures.
We intend to focus on how open source principles can break down information silos, accelerate research for rare diseases, and democratize health care.
In preparation, I’m going back to some threads and articles I’ve collected about diagnosis, data, and peer connections:
1) The National Institutes of Health offers Tips for the Undiagnosed, including links to patient and caregiver peer groups and the Undiagnosed Diseases Network (UDN), a research study funded by the National Institutes of Health Common Fund.
2) Kimberly Splinter and her co-authors lay out the importance of connecting clinicians, researchers, and peer patients in their article, “Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease.” An excerpt (emphasis added):
By virtue of research funding, the UDN is able to perform testing and coordination in a way that would be challenging in a traditional health care delivery system. However, many features that distinguish the UDN approach could be implemented more broadly in local clinics. The first and most important feature is the wide availability of sequencing. The second is the systematic documentation of phenotype to facilitate case sharing. The third is the close communication among experts and collaborators, including extended data sharing between investigators on a virtual private cloud and more broadly on the Internet, in networks such as Matchmaker Exchange and on participant pages on the UDN website. We also encourage and help UDN patients to make use of the Internet and social-media platforms to find similar patients. In many situations, finding just one similar case can be critical in proving the causality of a putative mechanism. Finally, we collect data on the psychosocial effect of undiagnosed conditions to improve the patients’ experience and to identify resources in their communities that could facilitate further care.
How might we create platforms that allow for data-sharing and peer conversations among researchers and clinicians AND among patients and their loved ones? I’ve seen this happening in pockets and corners, but I’d like to see it embraced as a must-have, not a nice-to-have (or a geez-let’s-try-anything) strategy.
3) Last January, Gina Kolata wrote in The New York Times about three people who were accepted into the Undiagnosed Diseases Network. Here’s her summary of the diagnostic approach: “Researchers in the network pursue every possible clue — gleaned from genetics, imaging, biochemistry, clinical exams — to discover what is wrong with these patients.”
Although social media was not mentioned in the article, peer health advice broke out in the comments:
In August of 2016, we bought a new mattress, a pillow top. Soon after, I began waking up several times a night with searing pain in my legs and feet. I felt like my body was on fire. My legs and feet were beet red. Walking barefoot on the cold tile of the bathroom floor helped. During the day I could not wear shoes without pain. After several doctor’s appointments with no answers, I was diagnosed with EM. Several months ago, we began sleeping in the guest room on a mattress from 2004, no pillow top, no “miracle” foam, to see if my symptoms were coming from the mattress. Bingo! My symptoms have changed dramatically. No more burning up from heat generated by….the mattress. I tried sleeping on the pillow top mattress again and all the symptoms came back. Hope this helps those of you who are suffering with this disorder.
Another person wrote:
This intensive focus on diagnostics is desperately needed. So many doctors simply dismiss patients with health problems that aren’t obvious. I recall going to four different doctors for severe headaches. I got lectures about stress and was told to take aspirin. I went for a routine dental cleaning. I didn’t mention the headaches. The dentist took xrays. He pulled strings to get me into emergency surgery a few hours later due to wisdom teeth that had grown horizontally under the gums that were crushing nerves. He said it couldn’t wait to the next day. I could have lost the feeling in my face and been unable to speak normally if it hadn’t been addressed. Needless to say, after I healed, the headaches were gone.
How might clinicians be reminded to listen to a patient’s full story? How might patients learn how to describe symptoms so clinicians understand? Could a peer-generated lexicon be one answer, as Sally Okun of PatientsLikeMe has suggested (and validated)? What will it take for crowd-sourced data to be considered alongside genetic data when solving mysteries — as in this case of the man who could not burp?
4) Bon’s September 2019 tweet-thread on health care crowd-sourcing garnered a few intriguing responses but this is the one I can’t get over:
“Tbh after watching the other show it struck us that crowdsourcing is great but have you ever tried universal health insurance?” – Richard James, @pennnursinglib
Indeed, so much of what ails us is not in our genetic code, but in our zip codes and in our (in)ability to access health care. There are many examples of how activists have used data to point out disparities and, indeed, access to data often equals access to power. How might we bring this into the conversation about health data?
If you’re planning to attend the Datapalooza, our panel will be on Tuesday, Feb. 11, at 10:45am in the Capitol/Congress Room on floor M4 (four levels below the lobby of the Marriott Marquis). Unfortunately that is the same time slot as the unconference session hosted by the Light Collective, another excellent line-up of data provocateurs.
P.S. In case you, like me, want to know the origin of the “X is great but have you tried Y” meme, here’s the story.
B fox says
Anyone with undiagnosed headaches should go straight to a good dentist. Dentists train in anatomy of the head quite thoroughly
Susannah Fox says
True! I once had what I thought was a tooth ache and it was a sinus infection. Luckily I had a dentist who listened and verified this diagnosis with a thorough exam.
Michael Hoad says
Wow. Three people re-imagining how we think about the humans in the middle. Fantastic.
Susannah Fox says
We three AND I hope lots of people come to join in the conversation! But yes, even if it’s just Bon, David & I in a room it will be a pretty awesome conversation. What questions would you like us to explore? One reason I like to flip panels & speeches by previewing the topic like this is to gather ideas from community colleagues, so please poke & prod & dream along with us about what the future could hold.
Susannah Fox says
Since my blog is my outboard memory I went back into my own archives for more about health data, open standards, and rare disease:
Which led me to:
The shifting model in clinical diagnostics: how next-generation sequencing and families are altering the way rare diseases are discovered, studied, and treated, by Matthew Might and Matt Wilsey (Genetics in Medicine, 2014)
Quotes from that journal article:
“We believe that information technology is transforming medical science. There are several information technology best practices in other industries that we can apply to the NGLY1 team:
– Share early, share often. Collaborate across institutions, disciplines, patients, and parents. We recognize that this is easier said than done, but it is essential. Share data. Share negative results. For findings too small to be publishable, turn to the Web and publish them in short blog posts. Get the information out there…
– Balance the bottom-up with the top-down. We recognize that much of science happens “bottom-up,” with open-ended investigations uncovering basic truths. Balance this approach with “top-down,” measurable goals that are grounded in patient’s needs…
– Move fast and break things. This motto is common in Silicon Valley, but has been popularized by Facebook CEO Mark Zuckerberg. Genetics, like any branch of medicine, is justly conservative when it comes to patients (“Do no harm”). We do not suggest that you should be less thorough or loosen protocols. We simply suggest that you take risks to make discoveries, even if ideas or assays fail along the way. Failure is good. We can all build upon those failures if we share.”
So let’s check in. That was published in 2014. It’s 2020. What progress have we made? (Truly, I’m asking.)
Susannah Fox says
Digging for updates, I found this 2018 Wired story by Erika Check Hayden about Matt Wilsey’s quest to get scientists interested in NGLY1:
A Family’s Race to Cure a Daughter’s Genetic Disease
Here’s a quote:
“As it turns out, the proteasome is also involved in a whole host of other diseases, such as cancer and brain disorders, that are far more common than NGLY1 deficiency. Wilsey immediately grasped the business implications: He had taken a moon shot, but he’d discovered something that could get him to Mars. Pharmaceutical companies had declined to work on NGLY1 deficiency because they couldn’t make money from a drug for such a rare disease. But Bertozzi had now linked NGLY1 deficiency to cancer and maladies such as Parkinson’s disease, through the proteasome—and cancer drugs are among the most profitable medicines.”
Susannah Fox says
I can’t resist adding another link to Matt Might’s work on rare disease diagnosis:
“The core idea behind internet-driven patient-finding is to create a ‘reverse dragnet’ to catch all of the other patients with the same disorder when they search for information about the disorder online. You want to make it easy for other patients to find you.”
Susannah Fox says
OK, I’m holding it down in the comment section this week! Please join in if you see something that inspires you to respond, ask a question, etc.
Here are some questions we received after our panel:
– If you are not David or Bon, with their networks and resources, what do you do if you have a medical mystery? (Part of the answer: Gather all your medical records so that when a clinician is able to take the time to sift through, looking for clues, you’ll be ready.)
– Instead of crowd-sourcing for answers, a collaborative network approach like David helped created for Castleman Disease is crowd-sourcing for questions.
– We need to advocate and build open source data, open source drugs, and open science (loved the comment from a medical librarian adding open publication & science to the list).
– David said yes, publish in open-access journals but also consider paying the fee to publish your article “open” in high-prestige, closed journals. That’s their model.
– A question from the audience that we didn’t have an answer for: How do you tell what is a worthy peer-to-peer patient and caregiver community?
– How do you document an individual, N=1 story to it can be published in a journal or otherwise recognized?
– What about people who do not want to pursue a clinical trial or even any treatments beyond standard of care? How do we activate them? David answered that rare disease seems to trigger activation because it is often so desperate, but we should also respect the choices of individuals who do not want to engage.
– Bon pointed out that there are lots of people who will never receive a diagnosis. How do we change the narrative that places a diagnosis at the center of someone’s health story?
– One suggestion from an audience member: How might we create a diagnosis toolkit (I started thinking of it as Dx in a Box) that has all the basics of what someone might need to get started? He imagined it on a shelf at Target — super mainstream. What would it contain?
– Amy Gleason’s tweet capturing one line from my talk has sparked a lot of discussion: “What if your doctor gave you a prescription to check out a patient group that they knew to be good?”
Susannah Fox says
And just to close the circle, here’s the post I wrote to gather up reactions to & expand on that last line:
What if your clinician gave you a prescription to check out a patient group that they knew to be good?
40+ comments and counting on that post. The conversation is never over online, so please join in.
Susannah Fox says
I came across this quote today and had to share it here:
“The aspiration to meet other people with a rare disease was massively shared by the participants, whatever their disease and its characteristics, genetic or not, curable or not.”
Cite: Huyard, C. (2009), What, if anything, is specific about having a rare disorder? Patients’ judgements on being ill and being rare. Health Expectations, 12: 361-370. https://doi.org/10.1111/j.1369-7625.2009.00552.x
Available open access: https://onlinelibrary.wiley.com/doi/full/10.1111/j.1369-7625.2009.00552.x