Our staff was first captivated over rare diseases when our community director attended a weekend hackathon dedicated to hacking the current rare disease patient experience. Moved by the collaboration between Hacking Medicine and MIT, he witnessed the production of several intriguing ideas for the identification and treatment of rare diseases and gave us a lot of insight into this dynamic industry.
We wanted to bring the information more into the mainstream. We’ve dedicated a week to discuss various aspects of rare diseases. We collaborated with some powerful voices.
- Wendy White of Siren Interactive discussed why rare disease matters.
- Nicole Boice from Global Genes contributed many facts and figures for today’s infographic.
- Sharon Moalem, MD, PhD, talked with us about how physicians can work with rare disease patients.
- Ayesha Khalid, MD, MBA co-organizer of Hacking Medicine, wrote about the frustrations of early funding for rare disease projects and how to overcome them.
- Our Sermo community of MDs and DOs discussed how the internet can help rare disease patients.
This infographic looks at the uphill battle that patients and their treating physicians face to find a diagnosis but it also looks at the potential of the medical and pharmaceutical industry to provide solutions. Ninety-five percent of rare diseases still have no cure or treatment options so there is clearly a lot of room for growth.
A geneticist from the Sermo community contributed an interesting point of view. He wrote,
“I spend all my days trying to figure out these diagnoses … It’s not a lack of information. Information is too plentiful. The problem is getting the data properly organized, appreciating and respecting the breadth of possibilities, and parsimoniously working through tiers of deductive reasoning, often testing hypotheses with simple observations (does this patient have a bifid uvula?) and incisive investigations (Unilateral acquired sensorineural hearing loss, Aha, maybe NF2?) and not shotgunning it or leaping to an overprecise test before you have fully understood the puzzle. All that said, anyone in the trenches can certainly tell you that the biggest barrier is insurance denials for expensive tests that miraculously fall into a category of “experimental and investigational” when they clearly are not.”
Where Do We Go From Here?
Although today closes out our week on rare diseases we will continue to explore what’s next. We will keep an eye on genetic testing and privacy laws. Continue to discuss the issues with funding and how the private sector is getting involved. Discuss the ethics of genetics and whether we should collect vast databases of information to research patient diagnoses and treatment.
As a physician what would help you the most when working with a patient with a rare disease? How do you think genetic testing should weave into patient care? What are the ethics that you’ve faced when working with patients? We’ll be discussing all this and more inside Sermo. If you’re an MD or DO, please join the conversation.