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Day 1: Newborn Screening: Pranesh Chakraborty, University of Ottawa
1. Screening and Diagnosis
Screening tests are about:
• an asymptomatic/minimally symptomatic
population
• risk estimation – increased or decreased risk
• Outcomes
Screening = testing a population to
achieve better outcomes by starting
treatment early in the course of disease
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
2. Screening requires a system of care
• Education, enrolment,
consent
• Screening test and
interpretation
• Retrieval, diagnosis,
treatment
• Data management and
performance measurement
• Policy setting and
governance
Since 2006
•>2.3 million babies screened
•~21,000 babies screen positive
•~3,500 babies diagnosed and treated early
3. All screening programmes do harm; some do good as
well, and, of these, some do more good than harm at
reasonable cost. The first task of any public health
service is to identify beneficial programmes by
appraising the evidence.
-- Muir Gray
4. Principles and Practice of Screening
Addition and Removal of Screening Targets
*Ability to predict natural history*
*Access and need for secondary prevention*
*Health economics and acceptability*
*Robustness and throughput*
5. 1. Point of care tests
2. Genomic and metabolomic technologies
3. Information systems
4. A new industry and health research focus on developing personalized / rare disease treatments
requiring a pre- or early- symptomatic phase diagnoses. NBS will be needed for timely
identification of babies who will benefit from these treatments.
Horizon scanning: four major disruptors
6. • Themes
• Infant’s well-being as the focal point
• Transformative therapy pipeline will
challenge NBS capacity
• The promise and risks of genomic
approaches
• Decisions should be evidence-based
• Financial support will be needed
• Modernization will need participation
of multiple stakeholders
• Challenges
• Critical missing data for decision-
making
• Burden on NBS laboratories
• Time required for implementation of
screening for new conditions
• Possible Solutions
• systems for more rapid collection and
integration of data
• network of NBS research centers to
design and conduct prospective
research
• network of regional NBS laboratories
to expedite implementations
• federal funding to support states and
incentivize national harmonization
• Integrate solutions in a way that is
strategic and effective.
7. “We’ll be genoming every newborn”?
What's On The Horizon For Newborn Screening
8. Considerations
For what benefit and at what harm?
• Targets
• Rare disease without a biomarker and transformative secondary prevention
• Complex condition and primary or secondary prevention
• How to target an untargeted technology
• Diagnostic odyssey: reducing vs creating
• Uncertainty in prediction of disease and natural history: pathogenicity, and severity
• Specificity is not 100%
• Sensitivity is not 100%
• Have the data available for reanalysis and reinterpretation
• DNA is a great data storage medium and process of retrieving the data is also constantly
improving
• Cost, carbon footprint of in silico storage, access, and computing
- Industrialization of sequencing
- High-throughput phenotype-
independent interpretation
9. Tricorders and the need for speed
What's On The Horizon For Newborn Screening
10. Initiating treatment in the latent period
Tune the existing system Point of care screening
“Early newborn screening” for immediate post-natal or even
fetal therapy
Ayla
7.4
months
11. Screening in context
Diagnosis = establishing the presence and exact
nature of pathology in a
symptomatic population in order to predict
natural history and choose appropriate treatment
Screening = risk identification in an
asymptomatic population to achieve
better outcomes by starting treatment
early in the course of disease.
Treatment = altering the natural history
of disease to improve outcomes or
improve health in other ways
Monitoring
IMPROVE OUTCOMES
12.
13. Eye on Canada – MDC supported project
Develop a mechanism to gather, share and translate knowledge in Canada:
• Create a means for communication and collaboration across Canada vis a vis NBS policy, program implementation,
and evaluation. This would include provincial and territorial NBS programs, as well as mechanisms to engage
existing networks bring together patients and families, clinical providers, and health policy decision-makers as
needed.
Eye on the future:
• New screening technologies, therapies and combinations of therapies for SMA will have the potential to change
outcomes and health economic impacts
(e.g. 2nd tier sequencing, fetal therapies and prenatal screening, core outcome sets, patient reported outcomes)
• Similar need for Canadian economic analyses and sharing mechanism for other future targets (including DMD)
• People and succession
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