National nursing registration in Australia: A way forward for nurse practitioner endorsement

Purpose: The move to national registration of health professionals and the creation of the Nursing and Midwifery Board of Australia (NMBA) provides both challenges and opportunities for the regulation of nurse practitioners (NPs) in Australia. Data sources: National and state health policy documents, accessible on the Internet, concerning the regulation and endorsement processes for NPs in Australia were examined. Conclusions: The similarities between two of the previous jurisdictional NP endorsement processes in New South Wales and Victoria provide a common ground on which to build a robust national system. However, there are also key differences between these two states. These differences were mainly in the evidence required to assess competency of NP applicants and the authority to prescribe medications. All Victorian NP applicants were required to complete an approved medication subject at a master's level. Implications for practice: A consistent endorsement process that delivers NPs of the highest standard and allows for efficient use of their skills and expertise is vital. This needs to be performed with the aim of providing high-quality care in a regulatory environment that protects the public and clearly articulates the level of competence expected of all NPs. © 2012 The Author(s) Journal compilation © 2012 American Academy of Nurse Practitioners

Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders

The development of computational methods to assess pathogenicity of pre-messenger RNA splicing variants is critical for diagnosis of human disease. We assessed the capability of eight algorithms, and a consensus approach, to prioritize 249 variants of uncertain significance (VUSs) that underwent splicing functional analyses. The capability of algorithms to differentiate VUSs away from the immediate splice site as being ‘pathogenic’ or ‘benign’ is likely to have substantial impact on diagnostic testing. We show that SpliceAI is the best single strategy in this regard, but that combined usage of tools using a weighted approach can increase accuracy further. We incorporated prioritization strategies alongside diagnostic testing for rare disorders. We show that 15% of 2783 referred individuals carry rare variants expected to impact splicing that were not initially identified as ‘pathogenic’ or ‘likely pathogenic’; one in five of these cases could lead to new or refined diagnoses