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

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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?