Background

Two major trends are influencing the development of newborn bloodspot screening. First, technological advances are allowing bloodspot testing to identify a wider range of conditions. Second, raised ethical expectations are demanding that screening programmes adopt policies to support informed choice, as outlined in the second report from the National Screening Committee.

Systematic reviews of research literature have been portrayed as accessible sources for informing policy development. Therefore, a systematic review of recent reviews about communication for newborn screening was seen as an essential first step towards new evidence-informed policies.

Methods

Readily accessible systematic reviews (published on The Cochrane Library and by the NHS Health Technology Assessment programme) were searched for evidence addressing communication for newborn screening. Reviews were included if they considered either newborn bloodspot screening or communication for screening. The methods for each review were examined and judged as likely to:

• comprehensively capture studies relevant to bloodspot screening communication;
• capture focused selections of relevant literature; or
• capture limited or no relevant studies, possibly unsystematically.

Each review was read and all references to parent or patient communication, information or choice potentially applicable to newborn screening were extracted and summarised. Each piece of data referring to evidence of effectiveness of communication or studies of parents’ and health professionals’ experiences and views was related to:

• the stages in the screening pathway (pre-screening information, antenatal screening information, parental choice / consent to test, parental choice / consent to test the baby's DNA, parental choice / consent to receive results, heel prick / screening test, subsequent tests, information with results, information with carrier results, and follow-up / post-test information); and
• characteristics of communication interventions (the provider of information; the timing of information; the written format of information; the non-written format of information; and the setting in which communication takes place).

Conclusions about interventions for implementation were drawn from reviews that comprehensively sought and appraised evidence of effectiveness of communication for screening. Other issues to be considered in developing policies were drawn from evidence of parents’ and health professionals’ experiences and views about newborn screening. Inferences were also drawn from evidence from other screening programmes.

The need for primary research was identified from authors’ conclusions of comprehensive reviews and from gaps in the evidence that fell within or between the scope(s) of comprehensive reviews.

The need for secondary research (systematic reviews) was identified from comparing incomplete coverage of communication by systematic reviews with systematic reviews currently in preparation.

Results

There is limited research reported about parents’ and professionals’ views and experiences of: pre-screening information (and none of antenatal information); consent for screening; the heel-prick itself and subsequent tests; the information provided with screening results; and in particular communication about carrier testing. This evidence is largely relevant to screening for cystic fibrosis (CF), and little refers to screening for phenylketonuria (PKU), congenital hypothyroidism (CHT) or sickle cell disorders (SCD).

A single trial found that, despite counselling, receiving a false-positive screen result for cystic fibrosis can be difficult to understand and lead to anxiety, confusion and depression. Even after a normal sweat test some parents still worry about the health of their child, and this concern may be greater following DNA testing. Few parents appeared to change their reproductive plans. However, numbers of false-positives in this trial were very small, and more research is needed.

Little or no research addressed the effectiveness of pre-screening information or informed choice, communication of test results or follow-up screening or diagnostic tests. Limited research is reviewed about the effectiveness of communication about the heel-prick itself, before or at the time of the screening test.

At present, parents are offered little information and less choice. Anxiety may result from waiting for test results, poor communication of test results, false-positive results or carrier results. Refusal rates are negligible.

Research from other programmes confirms the need for education about the role and limitations of screening and the meaning of test results. Research specifically about uptake has little relevance while newborn screening is fully integrated with routine maternity care and refusal rates are negligible. Research about decision aids and informed consent may become more relevant with the offer of more screening programmes and the need to seek informed consent, whether this is for screening itself, the reporting of results, or the storage of bloodspots for clinical reasons or research.

Implications for policy and practice

There is a general lack of both procedures, and research to inform the development of such procedures, for:

• providing parents with information about the newborn bloodspot screening
• inviting informed consent for newborn bloodspot screening
• routinely informing parents of the results (positive or negative)
• explaining to parents the need for further tests
• addressing the potential for misunderstanding by parents of the test results; and
• understanding and addressing the particular difficulties raised by revealing carrier status.

Recommendations for future research

There is a need for primary research about parents’ and professionals’ experiences and views of screening and about the details of communication practice: who should provide any information, what, how, when, or where. Specifically, more research is needed about: consent to screen using DNA; consent to receive results; and parental response to false-negative results, false-positive results and carrier results.

There is a need to survey newborn screening services, in the UK and elsewhere, for their resources and policies and to compare these with the challenges to communication noted in this review in order to identify good practice.

This report should be cited as: Stewart R, Oliver S (2003) What is known about communication with parents about newborn bloodspot screening? UK Newborn Screening Programme Centre. London.