Day 1: RD Fall 2022 Conference Roundtable 1: Genetic Diagnostic Programs. Newborn Screening: Andreas Schulze, The Hospital for Sick Children

1. The Right Start: How to Scale Up National Programs in
Screening, Testing and Diagnosis across the Lifespan
• Use and built on Existing Programs and Structures (national
and international)
• Secure Sustainability
• Rare Disease Strategy as Integrative Approach of Diagnosis,
Treatment, Care, Research

2. 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

3. Prevention and Treatment
• Primary prevention
• Inhibit the development of disease before it occurs
• Prevention of TB infection
• Secondary prevention
• Detect disease before it is symptomatic to prevent morbidity and/or spread to others
• Diet and medication to prevent intellectual disability in PKU
• Nusinersen and Zolgensma to prevent motor neuron loss and death/disability in SMA
• Communication and hearing augmentation to prevent developmental disabilities
• Tertiary prevention
• Reduce resultant disability and restore functionality amongst people already affected
by disease

4. 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

5. 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
RESEARCH AND INNOVATION IS NEEDED IN BOTH – NOT JUST
ON EARLY DIAGNOSIS AFTER SYMPTOMS

6. 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

7. The Right Start: How to Scale Up National Programs in
Screening, Testing and Diagnosis across the Lifespan
• Use and built on Existing Programs and Structures (national
and international)
• Secure Sustainability
• Rare Disease Strategy as Integrative Approach of Diagnosis,
Treatment, Care, Research

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

9. 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