References

Charles T, Pitt J, Halliday J, Amor DJ Implementation of written consent for newborn screening in Victoria, Australia. J Paediatr Child Health. 2014; 50:399-404

Kai J, Ulph F, Cullinan T, Qureshi N Communication of carrier status information following universal newborn screening for sickle cell disorders and cystic fibrosis: qualitative study of experience and practice. Health Technol Assess. 2009; 13:(57) https://doi.org/https://doi.org/10.3310/hta13570

Newborn Screening Programme Centre. Health professional handbook: A guide to newborn bloodspot screening for health professionals. 2012. https://www.gov.uk/government/uploads/system/uploads/attachment_data/file/390977/Health_Professional_Handbook_2012_v1.0_December_2012.pdf (accessed 21 September 2017)

Newcomb P, True B, Walsh J, Dyson M, Lockwood S, Douglas B Maternal attitudes and knowledge about newborn screening. MCN Am J Matern Child Nurs. 2013; 38:(5)289-94 https://doi.org/https://doi.org/10.1097/NMC.0b013e31829a55e2

NHS Screening Porgrammes. Code of Practice for the Retention and Storage of Residual Newborn Blood Spots. 2005. https://www.gov.uk/government/uploads/system/uploads/attachment_data/file/415981/Code_of_Practice_for_the_Retention_and_Storage_of_Residual_Blood_Spots.pdf (accessed 12 October 2017)

NHS Screening Programmes. Screening Tests for You and Your Baby. 2014. https://www.gov.uk/government/publications/screening-tests-for-you-and-your-baby-description-in-brief (accessed 21 September 2017)

Ulph F, Wright S, Dharni N Provision of information about newborn screening antenatally: a sequential exploratory mixed-methods project. Health Technology Assessment. 2017; 21:(55) https://doi.org/https://doi.org/10.3310/hta21550

Consent for newborn screening and storage of blood samples

02 November 2017
Volume 25 · Issue 11

Abstract

Newborn bloodspot screening is a routine procedure that is undertaken in most developed countries in order to identify nine different conditions, including sickle cell disease and cystic fibrosis. It is a procedure that requires parental consent, although studies have shown that parents may be unaware that they are also consenting to the storage of bloodspot samples. As part of a wider study aiming to identify the best means of communicating with parents, this article will examine how midwives can ensure that parents are informed and consent is valid.

Newborn bloodspot screening is seen as one of the most important public health initiatives and is practised in most high-income countries. In England, newborn bloodspot screening is introduced to parents as a recommended routine screen, but assumes an informed consent model. Newborn bloodspot screening screens for nine different conditions:

  • Sickle cell disease
  • Cystic fibrosis
  • Congenital hypothyroidism
  • Phenylketonuria
  • Medium chain acyl-coa dehydrogenase deficiency
  • Maple syrup urine disease
  • Isovaleric acidaemia
  • Glutaric aciduria type 1
  • Homocystinuria (pyridoxine unresponsive).
  • Responsibility for providing pre-screening information and obtaining consent lies with midwives. The latest available health professionals' handbook (Newborn Screening Programme Centre, 2012) guides health professionals to provide and discuss an information booklet, Screening Tests For You And Your Baby (NHS Screening Programmes, 2014), at the first appointment and again after birth. The handbook states that when obtaining consent for newborn blood spot screening, midwives must ensure that parents understand that they are consenting to the following (UK Newborn Screening Programme Centre, 2012):

  • The sample being taken
  • The sample being booked in and analysed in the newborn screening laboratory and used for quality assurance
  • The laboratory sending the results to the child health records department
  • The results being stored on the child health information system
  • The potential identification of their baby as a ‘carrier’ of sickle cell disease or cystic fibrosis
  • A referral to specialist services if a result is positive
  • The blood spot card being stored for a minimum period by the laboratory, as detailed in the Code of Practice for the Retention and Storage of Residual Spots (NHS Screening Programmes, 2005)
  • Their baby's anonymised data being used for research studies that help to improve the health of babies and their families in the UK, such as population studies
  • In rare circumstances, reciept of invitations from researchers who would like to use their baby's blood spot card for research (optional)
  • The use of identifiable data on babies, or children under age 5, diagnosed with sickle cell disease or thalassaemia by the NHS Sickle Cell and Thalassaemia Screening Programme
  • The PINSA project

    The Provision Of Information About Newborn Screening Antenatally project (PINSA) (Ulph et al, 2017) examined how best to communicate information about newborn screening. In this study, data from interviews with parents added to the international body of research raising concerns about how well models of communication prepared parents for newborn bloodspot screening, and whether this affected the validity of consent gained.

    Newborn bloodspot screening is used to screen for nine different conditions

    PINSA is a two-phase study containing six studies. The first phase aimed to generate a set of alternative communication models. This was done through a review of the international literature to understand the range of models and barriers and their usefulness. Parents and health professionals were then interviewed to examine their views about these alternatives and better understand barriers to communication and consent. Observations of practice were undertaken to understand resource use and barriers to communication and consent. The findings from Phase 1 were fed into Phase 2, where large scale national surveys weer conducted to test out how parents and midwives valued different aspects of communication, and economic models were tested to understand the costs of these different forms of communication. In the final study, these recommendations were tested with parents, midwives and health professionals across the screening pathway.

    During this research, parents and health professionals were asked what form of consent they felt was appropriate for newborn screening. Health professionals supported an informed consent model, while parents varied in their views, with the largest group thinking that assumed consent was appropriate. However, analysis of the data raised concerns as to whether parents were basing their consent model decisions on an incomplete knowledge of newborn bloodspot screening. For example, when participants became aware that newborn screening involved the storage of bloodspots, parents unanimously opted for an informed consent model, or a model where screening for the conditions could be performed with an assumed consent, but storage only occur after informed consent was provided.

    Parents' consent to bloodspot storage

    The study findings suggested that parents did not appear to be aware that bloodspot storage was happening. This is of concern for a number of reasons; not least because it raises questions about the validity of consent, and the effect on uptake levels of newborn screening if parents are not aware of the process in its entirety.

    Newborn screening achieves high uptake levels, which is central to being able to identify rare diseases that may not have presented in families previously. Data from parents in the PINSA project indicated that they unanimously supported the idea of screening newborn children for treatable health conditions, and did not need persuading that screening was of benefit, a finding that was confirmed by the international literature. However, parents' support was in part due to high levels of trust in the midwives and the NHS, and parents were very disturbed to discover that storage had occurred without their awareness. The project discussed the need for future parent education initiatives to make storage clearer to parents and to maintain their trust. Importantly, the literature suggests that parents are not more likely to refuse screening if they are told that bloodspots will be stored (Charles, 2014); rather a sense of a lack of control has been linked to parents opting out of storage (Newcomb, 2013).

    ‘Ensuring that communication regarding newborn bloodspot screening maintains trust with parents and enables them to be active decision makers in the best interests of their child is vital’

    Implications for midwives

    Presentations at the British Journal of Midwifery study days have raised further concerns, namely that the vast majority of midwives in the audience also appear to be unaware that, when parents consent to newborn screening, they are also consenting to storage. Midwives expressed concerns regarding whether the training on newborn bloodspot screening places sufficient emphasis on storage of bloodspots, and were worried about how best to practice in the immediate future.

    Ensuring that midwives are fully aware of what parents are consenting to and the options available to parents is key, as data shows that discovering information about newborn bloodspot screening after it has occurred can erode trust and damage the public view of newborn bloodspot screening. Likewise, it appears from this data that health professionals involved in the planning and delivery of newborn screening assume that parents are informed about this and that midwives are provided with such training.

    Informing parents about the storage of bloodspots could be seen as an opportunity to engage parents in learning about newborn bloodspot screening, rather being seen as potentially casuing lower uptake of screening. The importance of honesty in this matter was highlighted by parents' shock and anger at finding out about bloodspot storage after it had occurred.

    Interestingly, although there seems to be a surface-level acceptance that information is provided to enable parents to make informed decisions, there appears to be an implicit, fear-driven view that, if certain information is made clear, parents are more likely to decline screening—or that there is a need to really emphasise some messages (such as the effects of a particular condition) to ensure that parents do not decline. However, there does not appear to be any evidence in any of our studies, including the literature review, that parents contemplate refusing newborn bloodspot screening. Indeed, many parents appear to be supportive of newborn bloodspot screening and see it as a ‘no-brainer’, but evidence (Kai et al, 2009) shows that when parents are not adequately informed, this has an effect on their wellbeing, causing depression, anxiety, excessive concern about the health of a well child, reduced socialisation and an impaired ability to work, and their trust in the NHS is shaken. When parents become aware of storage of bloodspots they do not appear to suggest they would now refuse newborn bloodspot screening, but rather they would have wanted the honesty of the information and the choice. Ensuring that communication regarding newborn bloodspot screening maintains trust with parents and enables them to be active decision makers in the best interests of their child is therefore vital.

    Concerns around the levels of awareness of midwives have been raised with the National Screening committee following midwives voicing concerns at British Journal of Midwifery study days, and action is being taken to ensure that midwives are fully aware of this issue.