Abstract
The analysis in this part of the report is grounded in the rights-based Code of Rights, and takes into account the public health paradigm and the striking aspects of dealing with genetic risks in families. In this context, it is important to distinguish public health screening from personal clinical services. Traditionally, public health law has been prescriptive in form and has compelled participation. This is in contrast with the increasingly adopted consumer-based approach that promotes informed choice and consent and which is in keeping with the complexities and sensitivities surrounding genetic medicine.
Information about newborn screening should be given to parents by or during the third trimester, and again before the samples are taken. The applicability of the Code in the context of screening needs to be borne in mind. The significance of the ‘screening pathway’ needs to be appreciated: ‘It is a critical part of informed consent …to know about the entire screening pathway and the possible things that might occur before [taking] the first step’. Clear, unambiguous information needs to be provided, emphasising that the purpose of ‘participation’ is in the interests of the newborn.
If newborn screening increasingly operates in a paradigm that actively promotes informed choice and consent, parents or guardians will need to be informed throughout the screening process; this includes being notified about results. The policy of ‘no news is good news’ may have to be reconsidered in the light of complex issues raised by technologies that reveal carrier status, or if screening is extended to include late-onset disorders. Surveys and empirical studies should be undertaken in New Zealand to inform policy in this and other areas. Public discussion, e.g. led by parliamentarians, needs to take place.
Activities to monitor and evaluate the programme need to be more explicitly stated in information given to parents. Related to this, is the importance of distinguishing between initiatives taken for the purposes of fulfilling the aims of the programme and those that go beyond aims of the programme. Policies regarding retention and use of samples that clearly make and communicate that distinction need to be provided, especially to parents.
The utility of the retained blood samples is heavily dependent on the state of the technology. With DNA technologies and profiling, the degree and scope of information that can be derived from dried blood spots will potentially be very significant and have far-reaching implications. There is tremendous long-term value in retention, for example, for the purposes of quality management, programme expansion, research on testing and treatment and epidemiologic studies. Current and relevant scientific literature on the stability of metabolites, DNA extraction and testing technology and optimal storage conditions needs to be taken into account with regard to any policy development in this area.
Two options are provided in order to reconcile the inter-relationships between the various provisions of the Code of Rights on consent, storage and quality assurance and the NHC screening guidance: to maintain the status quo by more actively communicating information about right 7(9) and right 7(10); or to prescribe, with legal authority, a minimum retention period to guarantee all samples are available for QA-related activities.
The public availability of policies and procedures setting out, for example, the taking and documenting of informed consent would be helpful, in order to increase parental and public awareness, understanding and confidence.