Last week I spent 3 days in Bethesda, Maryland attending a registry “boot camp” with Genetic Alliance and a rare diseases registry conference hosted by the NIH Office of Rare Diseases Research.
From what I gathered, a “registry” for rare diseases can mean a simple contact list, a collection of clinical information input by patient and/or doctor, with or without a “repository” for collection of biospecimens like bone tissue that could come from my son during a surgery (sometimes the doctors call it surgical waste).
The point of the NIH conference was to get people together to start hammering out how to design a registry of registries – a registry that would include information on many rare diseases.  Anonymous (“de-identified”) information could be searched (“queried”) for disease pathways, disease targets, effective treatments, overlapping health issues, etc.  The goal is better treatments and cure through a big silo-busting knowledge share.  Ideally, the NIH would have a huge amount of money for a project like this.  There is no money, yet.
As I was sitting at the conference my stomach flipped in a sick way.  I realized that even though we follow the most stringent expert recommendations for care for my son – no one has any idea if the current treatment will actually work better than the old treatments, or work at all.  Current treatments might fail just as badly as past treatments, or worse.  I could very well be subjecting my son to multiple surgeries for nothing.  No one will ever know until someone starts collecting the information and then compares outcomes.  What do you say to that – sorry the surgeries didn’t work Billy, you want an ice cream?
Aside from my mom of rare kid existential crisis, both events were fascinating.  I really liked the cooperative vibe of Genetic Alliance with its BioBank.  The NIH conference was packed with many many excellent speakers.  I jotted down a few “to dos” –
(1) Pay attention to the NCI “caHUB” for specimen standards,
(2) Subscribe to,
(3) Pay attention to the work of Treat-NMD,
(4) Spend a few hours reading through materials on AHRQ,
(5) Avoid mission creep (repeat: stay on mission), and
(6) Watch for NORD’s comprehensive list of current rare disease registries.
There were about 75 people at the boot camp and 250 at the NIH conference (with 100 wait-listed).  This seems enough for a strong start.  I know we are all “rare” on the molecular level (personalized medicine) – but semantics aside, if the rare diseases community came together and advocated for funds for a rare diseases “super-registry,” I have to think it could happen.  And I promise to buy everyone an ice cream for each life-changing query.
:: Catherine Calhoun
P.S. I think we should invite Google to the next registry conference.
P.P.S. Many of the materials from the “boot camp” and the NIH conference should be available soon.  Check “Genetic Alliance” and “NIH Office of Rare Diseases Research.”