NZ Newborn Screening Programme and New Technologies

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NZ Newborn Screening Programme and New
Technologies
Genevieve Matthews Law Foundation Human Genome
Research Project Department of Biochemistry,
University of Otago
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Current Situation
Whole blood spots on cotton paper Seven
tests performed Metabolic screening only
Testing not compulsory
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New Information
Human genome sequence Polymorphisms
Genetic basis of disease
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New Technologies
Tandem mass spectrometry DNA/genetic
testing methods
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Should we start implementing these technologies?
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Should we start implementing these
technologies? Yes..
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Should we start implementing these
technologies? Yes.. and no..
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Public confidence
Metabolites are a marker for disease
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Public confidence
Metabolites are a marker for disease No
negative associations as with DNA No
complex/single gene issues No
predictive/susceptibility issues No genotype
phenotype issues
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Negatives?
False positives
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Extend the Programme?
The programme is working now Could be worth
extending
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Extend the Programme?
BUT For now, only using metabolites For
diseases that are Serious Treatable? Or
not? Early manifesting Easily detectable
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NZ is in a Good Position
Testing is done centrally A single contact
for each parent/child Good co-operation with
Australia Testing still has reasonable good
will
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The Advantages of MSMS
More rare diseases detected early Lower
morbidity/mortality Reduced cost to health
sector?
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The benefits of MSMS
Reduced cost to health sector? Reduced
time/cost of diagnosis Reduced stress for
parents Reduced morbidity/mortality Better
chance of screening next pregnancy
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Negatives of MSMS
Positives offset by The cost of false
positives Treatment costs Prenatal
screening or preimplantation genetic
diagnosis costs Extraneous information
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The Future?