NZ Newborn Screening Programme and New TechnologiesGenevieve MatthewsLaw 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?