Post on 16-Apr-2017
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
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
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
Dried Blood Spot (DBS) Samples
Dried Blood Spot (DBS) Samples
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
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
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
Core Panel (29)
Secondary targets (25)
Not appropriate (27)
Expanded Newborn Screening Panel
Canadian Consensus
http://www.hrsa.gov/advisorycommittees/index.html
Residual screening samples
Information and technology sharing
• Best practices • Timely screening and diagnosis • Benchmarking • Genomic technologies • Diagnostic testing • Information convergence • Downtime/disaster backup
0%
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50%
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70%
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90%
1 2 3 4 5 6 7 8 9 10 11 12 13 14
Sunday
Monday
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Percentage of samples received
Days
Date of Collection to Date of Receipt
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?