2. Paulo’s Story
§ Co-founder of two MedTech start-ups
§ I have the rare condition chronic idiopathic
angioedema
§ 10+ years, dozens of different doctors and no
solutions
§ This year discovered a therapy through my own
research efforts and hopeful
3. § Patients in primary care bounced around waiting for a diagnosis
§ Millions of patients undiagnosed
§ But…don’t blame the doctors
My story is not unique
4. Primary Care Barriers
§ Overburdened physicians
§ Technology gaps
§ Training
§ Complex diagnostic criteria
5. A Practical Example
Is my patient at high risk of Gaucher
disease? Start researching:
§ What are the causes?
§ What are the guidelines?
§ Family history?
§ Labs?
§ Cross reference existing meds?
6.
7. What if technology could bridge this
gap and make it easier for primary
care physicians to identify rare
disease patients?
8. Enable physicians to
screen their records
and identify high risk
patients
Match patients with the
right clinical options
Support the
patient-provider
journey
WE IDENTIFY THE UNDIAGNOSED
9. Is Technology Enough?
§ Spoiler: No.
§ But it is a big piece of the puzzle.
§ More than just a list of high risk patients
§ Partnerships with centres of excellence and
associations
10. Physician Feedback and early results
“Hmm, this patient has been coming in with this cough forever, maybe it is this”
“It’s great that you know who the right specialists are, this is very useful, I don’t want to be sending my
patients to specialist after specialist”
“This is fascinating, I want to spend more time with this after you leave”
“Your platform must be pretty good, my notes are sometimes not that great”
“I’m going to note this for her upcoming visit and see if she is still uncontrolled”
“If you have the right specialist, I am happy to refer high-risk patients, I have a number with respiratory
issues
Dozens of rare disease patients identified and
now getting treated by specialists