Informed Choice for Newborn Blood Spot Screening in the United Kingdom: A Survey of Parental Perceptions.
ABSTRACT OBJECTIVE:In the United Kingdom, newborn blood spot screening proceeds on the basis of consent based on an informed choice. However, little is known about parent experiences of this process. This study was intended to explore parents' understanding of newborn screening and their experience of the consent process using a structured survey.METHODS:A mail survey exploring key components of consent was sent to parents whose children had been screened in the year before the study. A descriptive analysis of responses together with logistic regression was performed to identify variables that predicted parental likelihood to agree that they had made an informed choice to screening.RESULTS:Most parents indicated they understood why the heel prick was done, but only a third understood how conditions would be dealt with if found. Almost a third of parents reported that they did not feel they had a choice to decline screening, yet >70% felt they had made an informed choice. Logistic regression indicated previous children, understanding why the heel prick was done, having time to make a decision, and feeling they had a choice were significant predictors of feeling an informed choice had been made.CONCLUSIONS:The findings support previous studies that screening may be seen as a fait accompli. Analyses indicated that allowing time to make a decision (eg, by providing information during pregnancy, emphasizing the decision-making aspect, and clearly articulating the reasons behind screening) may help parents feel that they have made an informed choice.
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ABSTRACT: In the United States, data from federally funded genomics studies are stored in national databases, which may be accessible to anyone online (public release) or only to qualified researchers (restricted release). The availability of such data exposes participants to privacy risk and limits the ability to withdraw from research. This exposure is especially challenging for pediatric participants, who are enrolled in studies with parental permission. The current study examines genomic research participants' attitudes to explore differences in data sharing (DS) preferences between parents of pediatric patients and adult patients. A total of 113 parents of pediatric patients and 196 adult participants from 6 genomics studies were randomly assigned to 3 experimental consent forms. Participants were invited to a follow-up structured interview exploring DS preferences, study understanding, and attitudes. Descriptive analyses and regression models were built on responses. Most parents (73.5%) and adult participants (90.3%) ultimately consented to broad public release. However, parents were significantly more restrictive in their data release decisions, not because of understanding or perceived benefits of participation but rather autonomy and control. Parents want to be more involved in the decision about DS and are significantly more concerned than adult participants about unknown future risks. Parents have the same altruistic motivations and grasp of genomics studies as adult participants. However, they are more concerned about future risks to their child, which probably motivates them to choose more restrictive DS options, but only when such options are made available.PEDIATRICS 03/2014; · 5.30 Impact Factor
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ABSTRACT: Over the last few years, there has been growing international concern about the risk of overdiagnosis in breast screening and about how to communicate this to women. There has also been an increasing policy drive to provide people with information to enable them to make an informed choice about screening. In response to this, a novel approach to developing the information about cancer screening has been adopted in England. This approach has integrated the perspectives of people eligible for screening, and experts in public engagement, informed choice, and communicating risk, as well as experts in screening. New information based on this approach has been provided to women invited for breast screening from September 2013. The new information explicitly sets out the choice to be made, and provides much more detail than previous information about overdiagnosis, the balance of benefits and harms, and the scientific uncertainties. The novel approach has also been adopted to develop new information for the bowel and cervical screening programmes in England, and could provide a model for communicating about cancer screening in other countries.Journal of Medical Screening 10/2014; · 2.72 Impact Factor
Title: Informed choice for newborn bloodspot screening in the UK: a survey of parental perceptions.
Short title: Perceptions of informed choice for newborn screening
Author: Stuart G Nicholls1,*, BSc (Hons), MSc, MRes, PhD; Kevin W. Southern2, 3, MB ChB,
1. Department of Epidemiology and Community Medicine, University of Ottawa, Ottawa,
Canada, K1H 8M5. Email: firstname.lastname@example.org
2. Alder Hey Children's Hospital, Liverpool, UK
3. Department of Women’s and Children’s Health, University of Liverpool, Liverpool, UK
Key words: informed choice, understanding, heel prick, survey
Word Count: 27673123
Number of tables: 5
UK Newborn Screening Laboratories Network (UKSLN)
National Health Service (NHS)
United Kingdom (UK)
General Certificate of Secondary Education (GCSE)
Advanced Level General Certificate of Education (A-level)
Dr. Nicholls was supported by an Economic and Social Research Council (ESRC) Postgraduate
Conflicts of interest declaration
What's Known on this Subject
Newborn screening is often seen as a fait accompli, even in programs that ostensibly proceed on the
basis of informed choice and parental consent.
What This Study Adds
The study reports details of parental understanding, perceived ability to make an informed choice,
and the availability of choice together with variables predictive of parental assessments of having
made an informed choice.
Contributor’s Statement Page
Dr Nicholls conceived and designed the study, and was involved in the direct acquisition, analysis,
and interpretation of data. Dr Nicholls also drafted the initial version of the manuscript. Dr Southern
made substantial contributions to the acquisition and interpretation of data; and helped revise the
article for intellectual content. All authors read and approved the manuscript submitted.
Objective: In the UK newborn bloodspot screening proceeds on the basis of consent based on an
informed choice. However, little is known about parent experiences of this process. The study
sought to explore parental understanding of newborn screening and their experience of the consent
process using a structured survey.
Patients and Methods: A mail out survey exploring key components of consent was sent to parents
whose children had been screened in the year prior to the study. A descriptive analysis of responses
together with logistic regression to identify variables that predicted parental likelihood to agree that
they had made an informed choice to screening.
Results: Most parents indicated they understood why the heel prick was done but only a third
understood conditions would be dealt with if found. Almost a third of parents reported that they did
not feel that they had a choice to decline screening, yet over 70% felt that they had made an
informed choice. Logistic regression indicated previous children, understanding why the heel prick
was done, having time to make a decision, and feeling they had a choice were significant predictors
of feeling an informed choice had been made.
Conclusions: The findings support previous studies that screening may be seen as a fait accompli.
Analyses indicated that allowing time to make a decision, for example by providing information
during pregnancy, emphasizing the decision-making aspect, and clearly articulating the reasons
behind screening may help parents feel that they have made an informed choice.
Newborn bloodspot screening is a long-standing program through which newborn babies are
screened for a variety of conditions shortly after birth. Established internationally, programs now
exist in Europe, North America, South America and the Asia Pacific regions . There is, however,
variation with regard to the delivery of screening programs, particularly in relation to consent. In
the US, screening is generally mandated, although most State programs allow for the refusal of
screening on religious or personal grounds . Other countries, such as Canada, have provincial
programs that generally operate on an opt-out basis . In contrast, newborn screening in the UK
proceeds only after consent based on an informed choice (‘informed consent’) has been provided .
As part of the UK national screening program every resident newborn baby and those under the age
of one who enter the UK, should be offered blood spot screening . This achieves almost universal
uptake . The blood spot sample is taken between days 5-8 of age (usually on day 5) by the midwife,
commonly in the infants home. Prior to screening, health professionals – again primarily the
midwife - are expected to both provide written information in the form of the Screening tests for
you and your baby booklet1 and discuss newborn bloodspot screening . The informed consent
process requires health professionals to:
“Explain fully to parents and then record in the maternity record that newborn blood
spot screening has been discussed and recommended, booklet given and consent
Consent may be considered to be informed only if a decision is voluntarily made by a competent
individual on the basis of disclosed information that is understood .
1The booklet is available at: http://www.screening.nhs.uk/annbpublications (Accessed 26th June 2012)
Some authors have questioned whether these criteria are being met in the context of newborn
screening, and cite the high uptake rates as being indicative of testing that may not be proceeding on
the basis of informed consent . Several studies support this assertion, with parents indicating that
they feel that screening was a fait accompli . Indeed, there is a body of research that indicates that
parents are often unable to recall specific items of information about newborn screening .
However, much of this work is qualitative and there is a lack of data as to how common these
experiences are. Moreover, a failure to recall information may not be indicative of understanding .
Indeed, the converse may be true; the ability to recall risk information does not necessarily indicate
that the individual understands the implications or consequences of that risk . Recent qualitative
work has also suggested that whilst parents may not recall specific information, they may exhibit an
understanding of the motivations for screening and the procedures , which may be sufficient
evidence of understanding required of an informed consent .
Consequently, we sought to collect quantitative information regarding parental experiences of the
different aspects of informed consent in the context of newborn bloodspot screening in the UK.
Patients and Methods
The population selected was that served by the clinical biochemistry department at the Royal
Liverpool Children’s Hospital in their role as part of the UK Newborn Screening Laboratories
Network (UKSLN), an association of National Health Service (NHS) laboratories who provide
screening services to newborn babies. The regional newborn screening laboratory hold records of
all infants born in the Merseyside and Cheshire regions. Parents were eligible for inclusion if the
bloodspot from their child had been analyzed during 2008 (n=28,348). Of these, a random sample
of 500 parents was selected. Parents of children who had subsequently died were excluded as it was
deemed that the discussion of newborn screening might have caused them distress.
Identification and recruitment
As records only included maternal contact details, mothers were approached in writing by a
clinician with appropriate clinical access (KS) and received a copy of the questionnaire, information
sheet, covering letter and prepaid envelope. The information sheet also gave mothers a web address
for an online version of the survey. Participants were given a small financial incentive to complete
the questionnaire. If after two weeks parents had not responded then a reminder letter together with
an additional copy of the questionnaire was sent. Ethical review deemed that multiple reminders
would be unacceptable. Completion and return of the questionnaire was taken to indicate consent to
participate. The North West 2 and Lancaster University Research Ethics Committees approved the
Drawing on previous qualitative work regarding parental experiences of the consent process a
questionnaire was developed to explore parental decision-making in relation to newborn bloodspot
screening. As part of this, and reported here, several sections evaluated components relating to the
domains of informed consent. Whilst parents who responded were taken to be competent to do so
they were asked to respond to a series of statements relating to (1) their perceived understanding of
newborn screening, (2) the perceived availability of choice and (3) their perceived ability to make a
choice to accept or decline newborn bloodspot screening.
Perceived understanding. Given the limitations of asking parents to recall specific items of
information, parents were asked to rate their perceived understanding of key screening elements.
Questions were informed by previous research and asked parents to rate nine statements regarding
the motivation behind, and the process of, newborn screening together with their understanding of
the conditions for which newborn screening is conducted.
Perceived ability to make a choice. To gauge whether respondents felt that they were capable of
making a choice, four statements were presented. Statements reflected both situational factors: “I
felt I had enough time to make a decision about the heel prick”, as well as individual behavioral
aspects: “I was too emotional to make a decision about the heel prick”, although no formal
assessment of competence was made.
Perceived availability of choice. Respondents’ perceptions regarding whether they had a choice to
accept or decline newborn bloodspot screening were assessed through responses to four statements.
A final item asked parents to respond to the statement: “I feel I have made an informed choice”.
Responses to all statements were coded on a five point Likert-type scale from Strongly Agree to
Strongly Disagree. Demographic information was also collected together with household income,
education, number of children and age.
Categorical responses were analyzed using simple descriptive statistics. Stepwise logistic regression
analysis was performed to identify characteristics predicting perceptions of whether an individual
had made an informed choice. The dependent variable was the response to the item “I feel I have
made an informed choice”, using a recoded outcome (Strongly agree/Agree vs. Neither Agree or
Disagree/Disagree/Strongly Disagree). All statements were initially included as independent
variables within the model together with four demographic predictors: income (≤ £28000 and >
£28000), Education level (School/GCSE, College/A-level, and further education), age group (≤30
years and > 30 years), and whether the parent was primaparous or multiparous (response options
were combined due to small cell counts). Analysis was based on complete cases for all variables,
and a backward stepwise process ratio testing. A significance level of P ≤ 0.05 was used as cut-off
for retaining variables in the model. Data from completed questionnaires were entered and analyzed
using SPSS version 17 .
Parent participation and characteristics of respondents
Of the 500 parents approached to complete the questionnaire, twelve were subsequently excluded
on the basis that the named individual no longer resided at that address. Of the remainder, a total of
154 questionnaires were returned giving a response rate of 32% (154/488). Only three responses
were received through the online option, the remainder being returned by post. This response rate is
similar to other survey research of parental experiences of newborn screening .
[Table 1: Survey sample characteristics (n=154)]
Parents varied in terms of age, income, number of children and educational level (Table ). The sam-
ple was predominantly white (95.5%), aged between 31 and 40 (61%) and had either one or two
children (79.9%). Respondents appeared to be more educated than the background population, with
84/154 (54.55%) having post-college education compared to just 17.73% in the population from
which the sample was drawn (based on 2001 census data).
The majority of parents felt they understood the motivation behind newborn screening and the
process by which it occurred (Table ). Over 80% of parents strongly agreed or agreed that they felt
that they understood why the heel prick was done, how the test was done, and when the test was
done and over 70% indicated that they understood what the results meant and when they would be
available. However, fewer parents (57.1%) felt that they understood how the conditions would af-
fect their child and fewer still (35%) felt that they understood how the conditions would be dealt
with if found.
[Table 2: Responses to statements regarding perceived understanding (n=154). *n(%)
Perceived ability to make a choice
Table presents the parental responses to questions relating to their perceived ability to make a
choice and perceived availability of choice. Most parents provided responses indicating that they
were able to make a choice whether to have their child screened. Over two thirds of parents (68.1%)
agreed to some degree that they had enough time to make a decision and 83.1% felt they were able
to make a decision about the heel prick. Parents, in general, did not feel that they were inhibited in
making decisions with only 10.6% feeling that they were too tired to make a decision and 9.7%
feeling they were too emotional.
[Table 3: Parental responses regarding perceived ability to make a choice (N=154). * n(%)
Perceived availability of choice.
In contrast, a number of parents reported circumstances regarding the perceived availability of
choice which may act to curtail the provision of consent based on an informed choice. As presented
in Table , over three quarters (79.8%) agreed to some degree that it was expected that their child
have the heel prick and over a third (39.6%) disagreed that the heel prick was presented as an
optional test. Furthermore, almost a third (31.8%) of parents reported that they did not feel that they
had a choice to decline the test. Despite this, the large majority of parents (70.1%) felt that they had
made an informed choice, although 11.7% disagreed with this.
[Table 4: Responses to statements regarding the perceived availability of choice (N=154). *n(%)
Predictors of perceived informed choice
Multivariate logistic regression revealed four variables that were significant predictors of an
informed choice being perceived to have been made to accept newborn bloodspot screening (Table
). Respondents with one or more existing children were more likely to feel that they had made an
informed choice (odds ratio (OR): 6.4; 95% confidence interval (CI): 1.6 - 25.5; P= 0.008). Feeling
that they understood why the heel prick was done (OR: 2.9; 95% CI: 1.4 - 5.8; P= 0.004), that they
had time to make a decisions (OR: 3.5; 95% CI: 1.9 – 6.7; P < 0.001), and that the heel prick was
presented as an optional test (OR: 2.9; 95% CI: 1.5 – 5.5; P = 0.001), were also significant
predictors of respondents feeling that they had made an informed choice.
[Table 5: Stepwise logistic regression results predicting perceptions of having made an informed
choice (n=134). *reference category primaparous.]
This study is the first to attempt to quantify parental experiences of the informed consent process in
the context of newborn bloodspot screening in the UK. The results of the survey indicate that the
majority of respondents felt that they understood the purpose and process of newborn screening, but
fewer felt they understood condition-related information. Most respondents also indicated that they
felt able to make a decision. However, there was much less agreement regarding the perceived
availability of choice with the majority of parents indicating that they felt the heel prick was
expected, and almost a third indicating that they did not feel they had a choice to decline the test.
Despite this, over two thirds of respondents indicated that they had made an informed choice,
although a substantial minority felt they had not.
These findings should be interpreted in light of the limitations of the study. The response rate of
32% , whilst comparable to other survey research relating to parental experiences of newborn
screening which have seen response rates as low as 23% , 28.6% , and 32.5% , is relatively low. The
responses here are also limited to those parents who accepted screening and it may be that those
parents who decline screening may have different experiences, particularly in relation to the
perceived ability to decline screening. Further research specifically considering those parents who
decline screening would be of great benefit.
Despite these limitations, our results provide an illuminating insight into the perceived
understanding of newborn screening and the role that the presentation of screening has on
perceptions of informed choice.
Previous studies have suggested that parental knowledge and understanding of screening may be
low . Whilst knowledge of the names of conditions or their major cause has tended to be relatively
low, knowledge of condition specific information has generally found to be better . Research in the
Netherlands, for example, found that knowledge of recurrence risk was very good within a small
cohort of patients identified as having CF, with 94% knowing their recurrence risk . Our finding that
parents indicated a greater understanding of the motivation and process of screening, as opposed to
the screened for conditions stands in contrast to this. This likely reflects the more general
population of our sample as opposed to the samples of Dankert-Roelse and colleagues , as well as
others that have considered subpopulations, often following a diagnosis. Our results suggest that
where there is no contraindicating information about the health of the child, then condition specific
understanding may be low; a result that is consistent with recent work in the UK in which parents
were found to have low levels of knowledge about the conditions included and what they would
mean for their child .
Our findings also indicate several service provision factors that may improve the consent process.
Respondents were more likely to indicate that they had made an informed choice if they felt they
understood the reasons for screening, if they felt that the test was presented as an optional test – i.e.
they had the opportunity to choose – and if they felt they had enough time to make a decision.
The need for time to make a decision is congruent with results from numerous studies regarding the
provision of information to parents, and in which a consistent finding is that parents want
information in the prenatal period . In the UK, for example, guidance indicates that information
should be given in the third trimester of pregnancy. However, it may also be given post-natally, so
long as this is up to 24 hours prior to the heel prick . Ensuring that information about newborn
screening is given in the third trimester may not only mean that parents have time to look at this
information , but may facilitate informed decision-making by allowing more time in which to make
a decision. Indeed, the finding that multiparous parents are more likely to feel that they have made
an informed choice is compatible with having time to make decisions. Parents for whom this is their
second or third round of screening have already been through the decision-making process and
consequently it may be easier for them to make decisions and feel that they have made an informed
choice because this decision is informed by their prior experience. This supposition gains some
support from research into decision-making for prenatal testing in which personal experience was a
significant factor .
The present results also lend support to previous work which has found that, despite an explicit
mandate for informed choice, parents may experience newborn bloodspot screening as a routine
procedure . Such a finding appears not to be limited to the UK and has been found internationally .
Our results indicate that an important aspect of this is the way that screening is perceived to be
presented; almost 80% of respondents indicated that they felt it was expected that their child have
the heel prick, and less than half felt that it was presented as an optional test or that they could
decline. Research by Parsons et al. , which sought to evaluate an intervention which emphasized an
optional screen for Duchenne muscular dystrophy, found that parents who received the intervention
were more likely to feel that the midwife had given them a choice and were significantly more
satisfied than those who did not receive a separate invite. Consequently, the presentation of the
information, and choice, appears to play a crucial role in parental experiences of decision-making
for newborn bloodspot screening.
Finally, our finding that those who feel that they understand the motivation behind screening are
more likely to feel that they have made an informed choice is important from an educational
perspective. If the aim of these information materials is to promote informed choice then our results
indicate that important content should be the reason for newborn screening. Current information, in
the form of the ‘Screening tests for you and your baby’ booklet, clearly indicates that an important
motivation for screening is to identify babies that have rare but serious conditions and that early
identification is beneficial to the health of the child. However, studies have suggested that the recall
of having this written information is somewhat limited . The same research has also indicated that
information provision by the healthcare professional (primarily the midwife) during the pre- and
post-natal visits was seen to be beneficial as this was time that had been already set aside and did
not require the active seeking of information. It is not clear what impact information (written or
verbal) is having on parental decisions regarding newborn bloodspot screening. Whilst studies have
suggested that current written information about screening programs do not promote informed
choice , and despite the resources spent on the development of information materials , there is a
paucity of work in terms of evaluating their quality or their impact on parents’ decisions. A clear
understanding of the impact that information content and/or delivery has on parental decisions and
decision-making is essential to optimize resources and inform strategy for information provision.
Our results suggest that by attending to the content of information, principally the motivation for
screening, and presenting this in a timely manner it may be possible to facilitate informed decision-
making by parents and therefore promote an informed choice and consent for newborn bloodspot
The author would like Mrs Elaine Hanmer at Alder Hey Children’s Hospital and those involved in
the development and pilot testing of the questionnaire, including representatives of Save Babies
Through Screening Foundation. Additional thanks to Dr. Mairi Levitt, Dr. Janet Squires and Dr.
Heather Colquhoun for comments and support.
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