This document discusses guidelines for pan-Canadian newborn screening. It defines screening as applying tests to asymptomatic populations to identify those who need further investigation or treatment for better outcomes. Diagnosis involves evaluating symptomatic patients to confirm or rule out disease. The document outlines elements of an effective screening system, including education, testing, follow-up, data management, and governance. It discusses the use of dried blood spot samples, and notes work by a federal-provincial-territorial group to establish consensus on minimum screening panels and policies around sample storage and secondary use.

1. Pan-­‐Canadian
Newborn
Screening
Guidelines
Pranesh Chakraborty
Children’s Hospital of Eastern Ontario
Director, Newborn Screening Ontario
Metabolic Physician, Department of Pediatrics
Medical Director, BORN Ontario
University of Ottawa
Associate Professor
Department of Pediatrics
Pathology/Laboratory Medicine
Department of Biochemistry, Immunology and Microbiology

2. What is Screening?
Screening is the systematic, population-based
application of a test or inquiry to individuals who do
not have symptoms of a specific disease or condition
in order to identify those who warrant further
investigation and/or intervention to achieve better
outcomes.
Screening tests are about:
• an asymptomatic/minimally symptomatic
population
• risk estimation – increased or decreased risk
• Outcomes
Definition of Screening Task Force, 2012
Screening = Better outcomes from starting treatment early in the
course of disease

3. What is Diagnosis?
The act or process of identifying or
determining the nature and cause of a disease
or injury through evaluation of patient history,
examination, and review of laboratory data.
http://www.healthknowledge.org.uk/public-health-textbook
/disease-causation-diagnostic/2c-diagnosis-screening/
screening-diagnostic-case-finding
Diagnostic tests are about:
• a defined symptomatic population
(people with indications of possible illness)
• confirming or refuting presence of disease
• defining an etiology, prognosis, treatment
Diagnosis = establishing the presence and exact nature of pathology in order to
choose appropriate intervention

4. Dried Blood Spot (DBS) Samples

5. Dried Blood Spot (DBS) Samples

6. Elements of a system of care
• Education, enrolment, consent
• Screening test and interpretation
• Retrieval, diagnosis, treatment
• Data management and performance
measurement
• Policy setting and governance
Definition of Screening Task Force, 2012

7. FPT Pan-Canadian working group
1. Consensus minimum panel
2. Policies for storage and secondary use of
dried bloodspots
3. Information sharing – policy, SOP, QA, etch.
4. Technology sharing
Scope: bloodspot screening

8. Screening “Principles”
Wilson and Jungner 1968
1. Is the disease an important public health problem?
2. Is there an effective treatment for localized disease?
3. Are facilities for further diagnosis and treatment available?
4. Is there an identifiable latent or early symptomatic stage of
disease?
5. Is the technique to be used for screening effective?
6. Are the tests acceptable to the population?
7. Is the natural history of the disease known?
8. Is there a strategy for determining which patients should and
should not be treated?
9. Is the cost of screening acceptable?
10. Is effective treatment available and does management of cases in
the early stages have a favorable impact on prognosis?
Prevention of morbidity and mortality from rare diseases that are
difficult to diagnose before damage is done

9. Core Panel
(29)
Secondary targets
(25)
Not appropriate
(27)
Expanded Newborn Screening Panel

10. Canadian Consensus

11. http://www.hrsa.gov/advisorycommittees/index.html

12. Residual screening samples

13. Information and technology sharing
• Best practices
• Timely screening and diagnosis
• Benchmarking
• Genomic technologies
• Diagnostic testing
• Information convergence
• Downtime/disaster backup

14. 0%
10%
20%
30%
40%
50%
60%
70%
80%
90%
1 2 3 4 5 6 7 8 9 10 11 12 13 14
Sunday
Monday
Tuesday
Wednesday
Thursday
Friday
Saturday
Percentage
of samples
received
Days
Date of Collection to Date of Receipt

15. Issues
• Screening is completely intertwined with
access to treatment
• Beyond bloodspots
• Point of care screening ó Centralization
• Timeliness
What happens next with the FPT process?