What did we want to know?

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 by the National Screening Committee.

In order to develop policy, we needed a summary of research about communication with parents for newborn screening.

Who wants to know?

Policy makers, clinicians, parents of newborn babies.

What did we find?

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 heelprick 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 initially abnormal results for cystic fibrosis can be difficult to understand and lead to anxiety, confusion and depression. Even after subsequent tests show the baby does not have cystic fibrosis, some parents still worry about the health of their child, and this concern may be greater if genetic / DNA tests are used. Few parents appeared to change their reproductive plans. However, numbers 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, initial results which suggest the baby is unwell (even when further tests show the baby does not have the condition) or genetic carrier results (when the baby is not affected). Parents rarely refuse newborn screening for their baby.

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 of screening 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.

What are the implications?

There is a general lack both of procedures and of 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
• understanding and addressing the particular difficulties raised by revealing carrier status.

We recommend:

• 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.
• A survey of 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.

How did we get these results?

A systematic review of systematic reviews published on The Cochrane Library and by the NHS Health Technology Assessment programme.

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