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?
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?