Rare Disease Strategy: Learning from Across Canada

Newborn Screening & Diagnosis

Robin Hayeems. PhD March 9, 2016

Ottawa, ON

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.

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.

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

22 17 29 31 49

19*

* Mostly through a voluntary urine screening program CORD Status Report 2015

Newborn Screening in Canada

13

23

26 19

What can we leverage to ‘fix’ this?

•  POLITICAL WILL •  DATA INFRASTRUCTURE •  EXPERTISE

POLITICAL WILL

Jan 20 2016

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

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

Climate is favorable

Momentum must be maintained