Lessons learnt from implementing change in newborn bloodspot screening processes over more than a decade: Midwives, genetics and education.

OBJECTIVE: To explore midwives' roles and education requirements in newborn bloodspot screening (NBS) for genetic conditions, as programs and supporting education evolve over time. BACKGROUND: NBS processes are evolving and will continue to evolve with new genetic and genomic technologies. Midwives have a critical role in facilitating NBS, as they are the primary healthcare professional to interact with parents at the time of collecting the bloodspot. As new consent processes and genomic technologies are incorporated into NBS, midwives need to stay up-to-date with these changes, so that parents can make an informed decision about having the test and future use of the DNA sample. RESEARCH DESIGN/SETTING: We used a cross-sectional approach to analyse midwives' knowledge and behaviour in 2005/6 and 2016, with changes in NBS processes and education introduced in 2011. FINDINGS: We found midwives' NBS knowledge improved in 8/18 areas after a 10-year period, mostly related to process changes, but there was also an increase in misconceptions regarding which conditions are screened. Areas of significant improvement were not consistently explained by participation in continuing professional development (CPD). We found midwives used official brochures and NBS collection cards to guide discussions with families. Changes to the NBS collection cards, together with the content of CPD materials, aligned with the significant improvements and deficits we observed. When considering potential changes to future maternity care that incorporates emerging genomic technologies, midwives indicated the main barrier was their lack of knowledge; the majority (60.3%) reported supervision support to attend genomics CPD. KEY CONCLUSIONS: Changes in NBS practice should be implemented through multifaceted programs that include education sessions and procedural prompts. The NBS collection card should be seen not just as a legal consent document but also as an educational tool. IMPLICATIONS FOR PRACTICE: As NBS programs evolve through the addition of conditions screened for or changes to technology or consent processes, multiple strategies should be applied to upskill midwives to ensure they can best support parents to make informed choices.

The expansion and performance of national newborn screening programmes for cystic fibrosis in Europe.

BACKGROUND: Newborn screening (NBS) for cystic fibrosis (CF) is a well-established public health strategy with international standards. The aim of this study was to provide an update on NBS for CF in Europe and assess performance against the standards. METHODS: Questionnaires were sent to key workers in each European country. RESULTS: In 2016, there were 17 national programmes, 4 countries with regional programmes and 25 countries not screening in Europe. All national programmes employed different protocols, with IRT-DNA the most common strategy. Five countries were not using DNA analysis. In addition, the processing and structure of programmes varied considerably. Most programmes were achieving the ECFS standards with respect to timeliness, but were less successful with respect to sensitivity and specificity. CONCLUSIONS: There has been a steady increase in national CF NBS programmes across Europe with variable strategies and outcomes that reflect the different approaches.