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.

Offering pregnant women different levels of genetic information from prenatal chromosome microarray: a prospective study.

This study aimed to examine the choice pregnant women make about the amount of fetal genetic information they want from chromosome microarray. Women having invasive prenatal testing in the absence of fetal structural abnormality were recruited in Victoria, Australia. A decision aid for women described 'targeted' analysis as reporting only copy number variants implicated in a highly penetrant and well-described phenotype and 'extended' as additionally reporting variants of uncertain or unknown significance. Participant's choice and demographics were collected by survey before chorionic villus sampling or amniocentesis; psychological data were also collected then and again about 10 days after receiving results. High-resolution single-nucleotide polymorphism array analysis was performed, and a clinical review committee assessed variants for reporting before returning results to participants. Sixty-six participants (59.5%) chose extended analysis and 45 (40.5%) targeted. Choosing extended information was associated with (1) indication for prenatal diagnosis: maternal age alone (adjusted odds ratio (adjOR) 9.6, 95% confidence interval (CI): 1.4-66.0, p= 0.02), or 'other' indication (adjOR 7.1, 95% CI: 1.5-33.1, p= 0.01)); (2) >12 months to conceive (adjOR 4.1, 95% CI: 1.0-17.7, p= 0.05); and (3) Asian background (adjOR 4.67, 95% CI: 1.0-21.0, p= 0.04). No adverse psychological impact occurred in either group. We conclude that offering pregnant women different levels of fetal genetic analysis is warranted, alongside decision support.

Implementation of written consent for newborn screening in Victoria, Australia.

AIMS: There has been increasing evidence of a lack of public awareness of newborn screening and concern about inadequate consent being obtained from parents. Apprehension also exists in relation to storage and secondary use of screening samples. Our objective was to introduce a written consent process across Victoria as a means of strengthening programme transparency, quality and supporting parental choice. In addition, more comprehensive information covering all aspects of the programme was developed. METHODS: A 'two-stage' written consent protocol allowed parents to give separate consent for (i) their baby to be screened and (ii) secondary use of the sample in de-identified health research. At the time of sample collection, parents were asked to complete the consent form, included as part of the screening card. The protocol was piloted in four public hospitals and subsequently implemented statewide. RESULTS: Twelve months of laboratory data showed that although refusals for screening increased, overall participation remained above 99%. The percentage of parents opting out of research use was 6.5%. Provider compliance with the new protocol was high, with only 1.4% of cards received without a completed consent form. CONCLUSION: This quality improvement project has demonstrated that parents can participate more fully in newborn screening without jeopardising high uptake. As a secondary benefit, the public health resource of stored cards can be maintained with parental support. Future work needs to examine the quality of consent being given by parents and investigation of the reasons why some choose to decline.

Regional variations in prenatal screening across Australia: stepping towards a national policy framework.

BACKGROUND: A relatively few centres across Australia provide screening tests for maternal serum markers or ultrasound measurement of fetal nuchal translucency to assess risk of fetal anomalies such as Down syndrome. While providers engage in external accreditation and quality assurance programs, state and federal governments have been slow to formulate relevant policies and standards. AIM: In this paper we review the current practices across Australian states and territories and propose recommendations for developing a national policy framework. METHODS: Data on the number and types of screening tests provided as well as state policies, where they are available, were obtained from government reports and supplemented by a mail survey to selected stakeholders in each state or territory. RESULTS: At a jurisdictional level, our results highlight the need to integrate the collection and monitoring of antenatal population-screening programs to assess clinical effectiveness and program performance (detection and screen-positive rates, uptake of diagnostic tests as a result of screening). Women's expectations and satisfaction with the information they are provided should be evaluated and used to adjust education resources. At a local level, collaboration between providers of the separate tests, both public and private, would enable the ascertainment of outcomes of integrated screening programs. To complete the cycle, these data should inform decisions to improve antenatal screening programs at a national level. CONCLUSIONS: A primary goal at a national level would be to develop a consensus on key performance indicators for programs that clarify best practice guidelines and establish optimal performance and accreditation standards.