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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?