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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
Current Situation
• Whole blood spots on cotton paper
• Seven tests performed
• Metabolic screening only
• Testing not compulsory
New Information
• Human genome sequence
• Polymorphisms
• Genetic basis of disease
New Technologies
• Tandem mass spectrometry
• DNA/genetic testing methods
Should we start implementing these technologies?
Should we start implementing these technologies?
Yes…..
Should we start implementing these technologies?
Yes…..
and no…..
Public confidence
• Metabolites are a marker for disease
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
Negatives?
• False positives
Extend the Programme?
• The programme is working now
• Could be worth extending
Extend the Programme?
BUT
• For now, only using metabolites
• For diseases that are:
Serious
Treatable? Or not?
Early manifesting
Easily detectable
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
The Advantages of MSMS
• More rare diseases detected early
• Lower morbidity/mortality
• Reduced cost to health sector?
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
Negatives of MSMS
Positives offset by
• The cost of false positives
• Treatment costs
• Prenatal screening or preimplantation genetic
diagnosis costs
• Extraneous information
The Future?