Transcript Newborn Screening What do you need to know?

Day 2
• You receive 2 reports on your desk
– The first describes the possibility of expanding
the state’s newborn screening panel to
include Severe Combined Immunodeficieny
Disorder (SCID)
– The second shows a shortage of genetics
health professionals who have training to care
for infants identified with a disorder on
newborn screen.
What do you need to know?
• Newborn screening is a coordinated,
comprehensive program consisting of
– Education
– Dried blood spot screening
– Follow-up diagnosis
– Care coordination
– Medical and dietary management
– Long-term treatment
History of Newborn Screening
• Began in early 1960s with PKU screening test
• Dr. Robert Guthrie, developed a screening test
for phenylketonuria
– Bacterial Inhibition assay
– Introduced a system for collection & transportation of
blood samples on filter paper
– cost effective wide scale genetic screening became
possible.
History of Newborn Screening
• Why PKU?
– Mental retardation preventable if
treated < 3 months
– Pushed by test developer and parent
advocates
– State mandates widely adopted,
beginning 1963 in MA
– Other conditions added by states
– Galactosemia began in 1964
– Congenital hypothyroidism initiated 1975
Newborn Screening Card
Blood spot
Expansion of Newborn Screening
• Almost all infants in US are now screened for 29
disorders (includes hearing) by Tandem Mass
Spectrometry
– In VA, 19 additional disorders are likely to be detected
and reported
• These disorders may cause severe mental
retardation, illness, or death if not treated early
in life.
• Every infant is tested unless a parent or
guardian objects on grounds that the test
conflicts with their religious practice.
• If treated, infants may live relatively normal lives.
• Results in savings in medical costs over time.
Tandem Mass Spectrometry
(MS/MS)
• Very precise, but interpretation is complex
• MS/MS can identify many, but not all
metabolic disorders
How do you choose which
diseases should be included in
your state’s Newborn Screening
panel?
Principles of Population Screening
1. Disease or health condition an important burden to
target population (morbidity, disability, mortality)
2. Information known on prevalence of genetic trait in
the target population and the burden of disease
attributable to it
3. Natural history of the condition, from susceptibility to
latent to overt disease adequately understood
Principles of Population Screening
4. Data available on test PPV and NPV for
future disease/health condition in target
population
5. Safety and effectiveness of the test
accompanying interventions established
Principles of Population Screening
6. Consensus achieved using scientific
evidence
7. Screening acceptable to target population
8. Facilities available for surveillance,
prevention, treatment, education, counseling
and social support
Principles of Population Screening
9. Screening as a continuous process including
pilot programs, assurance of laboratory
quality and health services, evaluation of
impact and provision for changes based on
new evidence
10. Cost-effectiveness of screening established
Principles of Population Screening
11. Access to screening and interventions
12. Safeguards for informed consent and
privacy, avoidance of coercion or
manipulation, and protection from
stigmatization and discrimination
Evidence for Expanded NBS: Other
Disorders
• Challenges
– Other disorders detected by MS/MS are much
less common
– Reliance on clinical judgment and expert
opinion
• Fragile X, Mucopolysaccharidoses, Spinal
Muscular Atrophy
• SCID is required in CO, CT, MI, NY and WI
Recall your task
Address:
– the possibility of expanding the state’s
newborn screening panel to include Severe
Combined Immunodeficieny Disorder (SCID)
– The shortage of genetics health professionals
who have training to care for infants identified
with a disorder on newborn screen.
Which Public Health Genomic
Competencies Apply?
• Identify ethical and medical limitations to genetic testing,
including uses that don’t benefit the individual.
• Participate in strategic policy planning and development
related to genetic testing or genomic programs.
• Participate in the evaluation of program effectiveness,
accessibility, cost benefit, cost effectiveness and quality
of personal and population-based genomic services in
public health.
• Maintain up-to-date knowledge on the development of
genetic advances and technologies relevant to his/her
specialty or field of expertise and learn the uses of
genomics as a tool for achieving public health goals
related to his/her field or area of practice.
Which essential public health
services would you recommend?
(See Framework on Next Slide for
Ideas)
A Potential Action Plan
• Public Health Service
– Monitor health status to identify health
problems
– Mobilize community partnerships and
action to identify and solve health problems
– Develop policies and plans that support
individual and community health efforts
You decide to
– Create an advisory committee
– Conduct long term evaluations with
families to assess whether inclusion of
new NBS tests affects clinical outcomes.
– Partner with universities to provide
genetic and specialty services