Elsevier

Midwifery

Volume 79, December 2019, 102542
Midwifery

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

https://doi.org/10.1016/j.midw.2019.102542Get rights and content

Highlights

  • Midwives play a critical role in helping parents understand newborn screening (NBS) for genetic conditions to make informed decisions.

  • We studied midwives’ NBS knowledge and behaviour before and after significant changes to program processes.

  • Midwives consistently stated that it is important for parents to know which conditions are, and are not, screened for in NBS.

  • Midwives’ knowledge of process changes improved but knowledge of which conditions are screened decreased for some conditions; these changes aligned with content of educational materials and bloodspot collection cards.

  • Changes to NBS processes need accompanying multifaceted education programs; the bloodspot collection card should be seen as an educational tool, not just a procedural requirement.

Abstract

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.

Introduction

Newborn bloodspot screening (NBS) to detect common genetic paediatric conditions is one of the oldest screening initiatives (Jansen et al., 2016), provided in many countries to intervene early and improve children's health (Therrell et al., 2015). Exact protocols and conditions screened for vary considerably both within and between countries (Jansen et al., 2016) but NBS has been shown to be both life-saving and cost-beneficial (Howell et al., 2012). As technology and perspectives on ethical practice have changed over time, programs have evolved in response. It is likely that this evolution will continue.

Newborn bloodspot screening is a normative but voluntary procedure in Australia, compared with other countries where it is sometimes mandated (Tluczek et al., 2009). In Australia, NBS is funded by state governments and offered free of charge to all neonates shortly after birth. In Victoria, the program historically screened for phenylketonuria (PKU), congenital hypothyroidism (CHT) and cystic fibrosis (CF). In 2001, the number of conditions was increased to include further rare genetic disorders of fatty acid oxidation and disorders of protein metabolism (Department of Human Services, 2001), which required that the bloodspot be collected within 48 h after birth. Typically, this is either performed by a midwife in hospital or by a maternal child health nurse if the mother has left hospital within this timeframe. In Victoria, women who give birth without complications in a public hospital stay on average two days for a vaginal birth or four days for a caesarean section (Department of Health and Human Services, 2012). In conjunction with the addition of more conditions, there was a change in approaches to consent. The state government released guidelines stating that NBS was voluntary, and that all parents would be provided with a brochure developed by the NBS service prior to testing (Department of Human Services, 2001). This brochure outlined key information including conditions screened for, how parents were notified of results, as well as information about the storage and access of the NBS cards after testing was completed. If parents chose not to have the test they were still required to indicate this on the NBS card, which was returned to the laboratory without a dried blood spot.

Effective pre-screening education is an important component of NBS processes but there are mixed reports on how informed parents are regarding NBS and who does, or should, inform them, and at what time point (Araia et al., 2012; Davey et al., 2005; Fitzgerald et al., 2017; Health Issues Centre, 2005). Many parents recall only hearing about NBS when the bloodspot is taken shortly after birth (Araia et al., 2012; Committee on Genetics, 2015; Fitzgerald et al., 2017), despite many programs including education on NBS during pregnancy. Proportions of parents surveyed who recalled receiving information range from 55% during pregnancy in Ireland (Fitzgerald et al., 2017), 72% at the time of the test in Canada (Araia et al., 2012), to 93% either before or after birth in Australia (Davey et al., 2005). In 2005, Australian women who had recently given birth were aware of NBS, but did not feel well informed and would have liked to have received more comprehensive information, with only a small proportion of women (14%) reporting to have read the NBS brochure (Davey et al., 2005).

In 2011, the Victorian NBS protocol was revised from implied verbal consent to mandatory written parental consent for testing (or decline of testing) and options for future use of NBS cards (Fig. 1) (Department of Health and Human Services, 2011). These changes were reflected in the literature provided to parents (Charles et al., 2014).

Parents receive information about NBS from a variety of sources. Midwives are well-placed to support parents seeking NBS information and rate highly as preferred information providers (Nicholls and Southern, 2012). Therefore, the role, and education of, midwives is paramount, especially when changes are made to NBS collection and consent processes. In the UK, maternity services are largely delivered by midwives, who provide verbal and written information to parents within an informed NBS consent process (UK Newborn Screening Programme Centre, 2008). Parents surveyed recalled that this information was predominantly provided by midwives (93%) or official leaflets (50%), with midwives regarded as the most legitimate and important information source, as parents could clarify, validate and expand information by discussion with a ‘trusted source’ (Nicholls and Southern, 2012). More recently, UK National Health Service midwives reported preferences to provide information via individual discussions rather than the internet (Wright et al., 2018). Most (97%) Canadian midwives surveyed also felt responsible for educating parents and 98% did so before sample collection (Hayeems et al., 2009). In the US, all states have NBS programs; the conditions screened for varies by state, with a minimum of 29 conditions (Howell et al., 2012). For midwives to inform parents about NBS it is essential that midwives themselves have sufficient knowledge of the purpose of NBS and its processes, including which genetic conditions are, or are not, included in the screening test so that parents know what conditions their child has been screened for (Jansen et al., 2016).

Prior to the introduction of the written consent model in Victoria, parents were in favour of written versus verbal consent (Health Issues Centre, 2005). Some parents believed written consent would give them more control over decisions regarding their child's health and others felt that if written consent was required, health professionals would be more inclined to provide thorough information about the test.

Education programs for midwives were instigated when significant changes were made to the Victorian NBS program: in 2001 when the number of conditions screened for was expanded; and in 2011 to coincide with the change to the consent model and revised quality assurance procedures (Charles et al., 2014). To date over 350 education sessions have been conducted since 2011 at over 100 locations around Victoria (hospitals, universities, conferences), ranging from 1 to 50 participants per session. An e-tool was launched in 2012 (Victorian Clinical Genetics Services, 2012) covering the same content, plus information about conditions screened for. The e-tool was updated in 2016 to include self-assessment.

The technology used in NBS also changes, with programs incorporating technological advances, e.g., introducing DNA testing for CF variants. When VCGS shifted to tandem mass spectrometry in the mid-2000s, the number of conditions screened for increased from three to over 20. The use of massively parallel sequencing (MPS) in NBS is currently being investigated (Berg et al., 2017). This technology allows the entire genome to be sequenced quickly, at decreasing costs, although not all the genomic data are necessarily analysed.

As NBS programs evolve, few studies have examined how updated guidelines and concomitant education influence midwives’ role in NBS (Ulph et al., 2017). This evolution is likely to continue. Additional ethical, legal and social issues of using MPS to examine a newborn's genome, rather than blood biomarkers, include challenges around informed consent and potential future re-analysis of data.

Therefore, here we aimed to investigate long-term changes in midwives’ understanding and practice of NBS and genetics/genomics before and after implementation of the revised Victorian protocol and education program, to provide insights into supports needed to help midwives incorporate these changes. Understanding how midwives have responded to changes in a program protocol, with concomitant education, is useful to prepare for the anticipated evolution of NBS in the ‘genomic era’.

Section snippets

Methods

In Australia, maternity care is provided both in a private and public (government-funded) healthcare system, with about three-quarters of women in Victoria giving birth in a public hospital (Department of Health and Human Services, 2016). Midwives work in both settings, although care in the private setting is largely obstetric-led. Home births in Victoria are very rare (0.04%; Department of Health and Human Services, 2016). This paper presents data collected over more than 10 years, during

Survey samples at both time points

In 2006, 738 midwives received the paper-based survey and were eligible to participate; 317 returned surveys that complied with inclusion criteria and were analysed (43.0% response rate; Table 1). In 2016, 299 surveys were fully or partially completed online. This represents 26.2% of the 1,140 practising midwives in 2016 in Victoria (Nursing and Midwifery Board of Australia, registrant data for March 2016). Table 1 shows cohort demographics at both time points. In 2006, respondents were mainly

Discussion

A new national Australian NBS framework stresses appropriate and timely information should be provided to families, usually by a nurse or midwife (Australian Health Ministers’ Advisory Council, 2018). Our comparison of midwives’ practice and attitudes over more than a decade, with analysis of education and resources provided by the NBS program, provides valuable insights into how midwives may be supported to incorporate change in their practice.

The revised Victorian NBS screening policy was

Ethical approval

The study was approved by the Human Research Ethics Committee at the University of Melbourne. The Victorian Clinical Genetics Services provided permission to use newborn screening uptake data.

Declaration of Competing Interest

None declared.

Funding sources

Funding for the study was provided by the Murdoch Children's Research Instituteand the Victorian Government Operational Infrastructure Support Program. Dr Bishop held a National Health and Medical Research Council Public Health Postgraduate Scholarship when conducting the 2006 study (334389).

Acknowledgments

We thank the Victorian Clinical Genetics Services for their assistance in extracting and providing NBS data.

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