Rare Disease Day 2016 Conference March 9 - 10: Day 1

1. Rare Disease Strategy:
Learning from Across Canada
Newborn Screening & Diagnosis
Robin Hayeems. PhD
March 9, 2016
Ottawa, ON

2. Newborn Screening
— Newborn screening aims to identify babies who are
asymptomatic at birth but may have serious disorders
— These disorders cause serious physical or
developmental problems if left untreated (e.g. severe
neurological impairment, organ failure, seizures).
— Most commonly, a few spots of the baby s blood are
taken from the heel and collected on a card a few days
after birth.

3. Screening Criteria
1. The condition sought should be an important health problem.
2. There should be an accepted treatment for patients with recognized disease.
3. Facilities for diagnosis and treatment should be available.
4. There should be a recognizable latent or early symptomatic stage.
5. There should be a suitable test or examination.
6. The test should be acceptable to the population.
7. The natural history of the condition, including development from latent to
declared disease, should be adequately understood.
8. There should be an agreed policy on whom to treat as patients.
9. The cost of case-finding should be economically balanced in relation to
possible expenditure on medical care as a whole.
10. Case-finding should be a continuing process and not a “once and for all”
project.

4. Incidence (ON)
1/12,000-1/300,000
1/50,000-1/200,000
1/10,000 or less
1/60,000
1/60,000
1/3,000
1/15,000
1/400
1/3600
<1/100,000
ONTARIO PANEL
OVERALL (in Ontario)
~140,000 babies screened/yr
~1400 screen positive (~1%)
~140 have disease (~0.1%)
CANADA
390,000
3900
390

5. 22 17 2931 49
19*
* Mostly through a voluntary urine screening program
CORD Status Report 2015
Newborn Screening in Canada
13
23
26
19

6. What can we leverage to ‘fix’ this?
• POLITICAL WILL
• DATA INFRASTRUCTURE
• EXPERTISE

7. POLITICAL WILL

8. Jan 20 2016

9. DATA INFRASTRUCTURE:
NSO, BORN ONTARIO
NSO DATA INFRASTRUCTURE
• Laboratory/program quality
BETTER OUTCOMES REGISTRY & NETWORK
• Covers all ON birthing facilities
• ~3000 health encounter data entries/day covering
140,000 births/yr (40% of births in CA)
• Program/system quality
• EXAMPLE
• 2013–2014: BORN highlighted 542 potential missed
screens to NSO, 217 confirmed to be true misses.
• NSO contacted care providers to report potential
missed screen, triggered appropriate follow-up with
parents

10. EXPERTISE
clinical, laboratory, health system
• State of the art laboratories and scientists using
cutting edge technologies to optimize test performance
• New sample types
• New NGS technologies
• New info systems to integrate genomic and
metabolomic data
• World class clinicians, epidemiologists specialized in
developing treatments & monitoring outcomes for rare
disease
• Innovative health info systems/centres of excellence to
ensure access to specialized and coordinated care
providers across health and non-health sectors

11. Climate is favorable
Momentum must be maintained