All babies in NSW and the ACT are offered testing for treatable disorders. Newborn screening samples of blood, dried on filter paper, are collected from all babies in New South Wales and the Australian Capital Territory, and tested for a number of metabolic disorders for which early treatment will prevent mental retardation and other serious medical problems. About 90 babies each year are diagnosed with a treatable condition. In many of these, failure to diagnose the condition in the newborn period would lead to irreversible problems, such as mental retardation or, more rarely, death.
Screening cards are stored until the child reaches 18 years of age. The dried blood samples are stored after the testing is completed, until the child reaches 18 years, at which time the cards are destroyed. The storage is explained in the newborn screening pamphlet handed to parents, "Tests to protect your baby".
The reasons for storage are:
- For laboratory audit — if a baby is later found to have a disorder that was missed by the newborn screening test, the laboratory needs to know what went wrong, so as to be able to rectify the problem.
- To develop new tests — the screening programme must be able to develop new tests for treatable conditions. If there is a disorder normally recognised during childhood, when damage has already occurred, it is necessary to know what the newborn blood sample showed, to see if the disorders could have been diagnosed by a newborn test. This is the major reason why blood samples are stored in identifiable form.
- For family use — some families are able to make use of stored samples. If a child died from an unknown disorder, sometimes a likely diagnosis emerges later. The stored sample may be able to be used to confirm the diagnosis. This helps families come to terms with what has happened, and may be useful for prenatal diagnosis.
- Samples are stored securely in a locked area. Only authorised staff from the screening programme can access them. The data stored is also secured, by multiple password systems. The stored data consists of very basic demographic data - name, date of birth, hospital of birth, birth weight, baby's doctor, plus the results of tests.
There is no stored data about DNA. About 1% of the samples has a test for a common change in the DNA (a mutation) associated with two of the disorders, as part of the routine testing. No DNA tests are done on the vast majority of samples, and absolutely no other DNA records are held.
No tests other than routine newborn screening tests are carried out on any identified sample without the written permission of the parents or guardian, or the subject, if old enough.
There is a memorandum of understanding between NSW Police and NSW Health that limits police access to samples sought by police to identify remains. The police have only very occasionally requested access to samples, for identification of a deceased person, and in each case, with written permission from parents. In general it is only thought useful to access samples for forensic purposes if the subject is dead, or believed dead, and when the newborn screening card is the only available sample to help in identification.
The newborn screening programme complies with the Privacy and Personal Information Act of 1998. These issues have been discussed with the Privacy Commissioner. It is considered that the present policy of storing samples is of benefit to the children of New South Wales and the Australian Capital Territory rather than a risk.
Clinical Director, Prof John Christodoulou, NSW Newborn Screening Programme
Dr Veronica Wiley, Head, NSW Newborn Screening Programme