1. NZ Newborn Screening Programme and New Technologies Genevieve Matthews Law Foundation ‘Human Genome Research Project’ Department of Biochemistry, University of Otago

2. Current Situation Whole blood spots on cotton paper Seven tests performed Metabolic screening only Testing not compulsory

3. New Information Human genome sequence Polymorphisms Genetic basis of disease

4. New Technologies Tandem mass spectrometry DNA/genetic testing methods

5. Should we start implementing these technologies?

6. Yes…..

7. Should we start implementing these technologies? Yes….. and no…..

8. Public confidence Metabolites are a marker for disease

9. 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

10. Negatives? False positives

11. Extend the Programme? The programme is working now Could be worth extending

12. Extend the Programme? BUT For now, only using metabolites For diseases that are: Serious Treatable? Or not? Early manifesting Easily detectable

13. 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

14. The Advantages of MSMS More rare diseases detected early Lower morbidity/mortality Reduced cost to health sector?

15. 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

16. Negatives of MSMS Positives offset by The cost of false positives Treatment costs Prenatal screening or preimplantation genetic diagnosis costs Extraneous information

17. The Future?