Improving Screening Programmes for Sickle Cell Disorders and Other Haemoglobinopathies in Europe: The Role of Patient Organisations.

This discussion paper has been written to show the unique contribution and added value that Patient Organisations can give to the development and improvement of newborn screening programmes for sickle cell disorder (SCD) and other haemoglobinopathies in Europe. As an example, the action of the Sickle Cell Society (SCS) in partnership with statutory organisations in the U.K.

How many people have sickle cell disease in the UK?

Background: Sickle Cell Disease (SCD) is now one of the most common serious genetic condition in England. There is no reliable estimate of the total number of people living with SCD in the UK, to support commissioners and providers of services for people with SCD.

Aim: To obtain reliable data on the total number of people living with SCD in the UK in 2016.

Evaluation of newborn sickle cell screening programme in England: 2010-2016.

Objective: To evaluate England's NHS newborn sickle cell screening programme performance in children up to the age of 5 years.

Design: Cohort of resident infants with sickle cell disease (SCD) born between 1 September 2010 and 31 August 2015 and followed until August 2016.

Participants: 1317 infants with SCD were notified to the study from all centres in England and 1313 (99%) were followed up.

Newborn bloodspot results: predictive value of screen positive test for thalassaemia major.

Aim: There are limited published data on the performance of the percentage of haemoglobin A (Hb A) as a screening test for beta thalassaemia major in the newborn period. This paper aims to analyse data derived from a national newborn bloodspot screening programme for sickle cell disease on the performance of haemoglobin A (Hb A) as a screening test for beta thalassaemia major in the newborn period.

Methods: Newborn bloodspot sickle cell screening data from 2,288,008 babies were analysed.

Offering antenatal sickle cell and thalassaemia screening in primary care: a pre-post evaluation of a brief type of communication skills training.

Objective: To evaluate brief communication skills training for healthcare professionals (HCPs) in offering antenatal sickle cell and thalassaemia (SCT) screening in primary care.

Design: Descriptive study within a cluster randomised controlled trial in 17 inner city practices.

Methods: 126 HCPs were invited to attend a training session.

Screening for sickle cell and thalassaemia in primary care: a cost-effectiveness study.

Background: Haemoglobinopathies, including sickle cell disease and thalassaemia (SCT), are inherited disorders of haemoglobin. Antenatal screening for SCT rarely occurs before 10 weeks of pregnancy.

Aim: To explore the cost-effectiveness of offering SCT screening in a primary care setting, during the pregnancy confirmation visit.

Impact on informed choice of offering antenatal sickle cell and thalassaemia screening in primary care: a randomized trial.

Objectives: Offering antenatal sickle cell and thalassaemia (SCT) screening early in pregnancy can maximize the range of post-screening choices available, however these benefits should not be obtained at the expense of informed choice.  This study examined whether offering this screening in primary care at the time of pregnancy confirmation compromises women making informed choices. Design Partial factorial, cluster randomized controlled trial.

Offering antenatal sickle cell and thalassaemia screening to pregnant women in primary care: a qualitative study of women's experiences and expectations of participation.

Objective: To describe the acceptability to women of being offered antenatal Sickle cell and Thalassaemia (SC&T) screening in primary and secondary care at the visit to confirm pregnancy; and to explore the implications of their views for participating in decisions about their health care.

Methods: Qualitative semi-structured interviews were conducted with twenty-one ethnically diverse women registered at twenty-five general practices in two English inner-city Primary Care Trusts. The material was analysed thematically, using the method of constant comparison.

Offering antenatal sickle cell and thalassaemia screening to pregnant women in primary care: a qualitative study of GPs' experiences.

Background: Timely antenatal sickle cell and thalassaemia (SC&T) screening for all women in primary care facilitates informed decision making, but little is known about its implementation.

Aim: To assess the feasibility of offering antenatal SC&T screening in primary care at the time of pregnancy confirmation.

Design Of Study: Cross-sectional investigation of GPs' beliefs and perceived practices.

Effectiveness of earlier antenatal screening for sickle cell disease and thalassaemia in primary care: cluster randomised trial.

Objective: To evaluate the effectiveness of offering antenatal screening for sickle cell disease and thalassaemia in primary care as a way of facilitating earlier uptake of screening.

Design: Partial factorial cluster randomised controlled trial.

Setting: 25 UK general practices from deprived inner city areas.

Will the introduction of non-invasive prenatal diagnostic testing erode informed choices? An experimental study of health care professionals.

Objective: Informed choice is a fundamental concept within prenatal care. The present study assessed the extent to which the introduction of non-invasive prenatal diagnosis (NIPD) of Down's syndrome may undermine the process of making informed choices to undergo prenatal testing or screening for Down's syndrome by altering the quality and quantity of pre-test counselling.

Methods: 231 obstetricians and midwives were randomly allocated one of three vignettes, each describing a different type of test: (a) invasive prenatal diagnosis (IPD), (b) non-invasive prenatal diagnosis (NIPD) or (c) Down's syndrome screening (DSS).

Informed choice in prenatal testing: a survey among obstetricians and gynaecologists in Europe and Asia.

Purpose: To ascertain the extent to which the value obstetricians and gynaecologists attach to informed choice in the context of prenatal testing varies across countries.

Method: The values attached to informed choice and the perceived importance of test decisions reflecting the views of others considered significant to pregnant women were assessed and compared across obstetricians and gynaecologists in six countries: UK (n = 176), Netherlands (n = 331), Italy (n = 254), Greece (n = 116), China (n = 116) and India (n = 123).

Results: While respondents from the United Kingdom and the Netherlands almost unanimously believed prenatal testing should reflect a parental choice (94%), substantial minorities in Greece, India, and China and to a lesser extent Italy, believed testing should either reflect a family choice or no choice (11-41%).

Maximising recruitment and retention of general practices in clinical trials: a case study.

Background: There is limited evidence regarding the factors that facilitate recruitment and retention of general practices in clinical trials. It is therefore pertinent to consider the factors that facilitate research in primary care.

Aim: To formulate hypotheses about effective ways of recruiting and retaining practices to clinical trials, based on a case study.

Informed choice to undergo prenatal screening for thalassemia: a description of written information given to pregnant women in Europe and beyond.

Purpose: To investigate whether prenatal screening for thalassemia is presented as a choice, and how the condition is described in written information given to pregnant women in different countries.

Method: One leaflet from each of seven countries (UK, The Netherlands, Greece, Italy, Israel, India and China) was collected for evaluation. Statements relating to choice and those describing the condition were extracted for analysis.

Delay between pregnancy confirmation and sickle cell and [corrected] thalassaemia screening: a population-based cohort study.

Background: Antenatal sickle cell and thalassaemia screening sometimes occurs too late to allow couples a choice regarding termination of affected fetuses. The target gestational age for offering the test in the UK is 10 weeks.

Aim: To describe the proportion of women screened before 70 days' (10 weeks') gestation and the delay between pregnancy confirmation in primary care and antenatal sickle cell and thalassaemia screening.

Towards socially inclusive research: an evaluation of telephone questionnaire administration in a multilingual population.

Background: Missing data may bias the results of clinical trials and other studies. This study describes the response rate, questionnaire responses and financial costs associated with offering participants from a multilingual population the option to complete questionnaires over the telephone.

Design: Before and after study of two methods of questionnaire completion.

Undergoing prenatal screening for Down's syndrome: presentation of choice and information in Europe and Asia.

To date, studies assessing whether the information given to people about screening tests facilitates informed choices have focussed mainly on the UK, US and Australia. The extent to which written information given in other countries facilitates informed choices is not known. The aim of this study is to describe the presentation of choice and information about Down's syndrome in written information about prenatal screening given to pregnant women in five European and two Asian countries.

Development of a measure of informed choice suitable for use in low literacy populations.

Objective: To assess the reliability and validity of a simplified questionnaire-based measure of informed choice in populations with low literacy. The measure comprises (a) knowledge about the test and (b) attitudes towards undergoing the test. Responses to (a) and (b) together with information on test uptake, are used to classify choices as informed or uninformed.

Informed choice in antenatal Down syndrome screening: a cluster-randomised trial of combined versus separate visit testing.

Objective: Building upon the results of an observational study, this clinical trial aimed to test the hypothesis that conducting antenatal Down syndrome screening (DSS) at the same time as other tests result in higher rates of informed choice to accept DSS, than when it is conducted separately from other tests.

Methods: The trial used a cluster-randomised controlled design, with informed choice as the outcome measure. The post of midwife was randomised to offer DSS at the same time as other tests (combined visit) or separately from other tests (separate visit).

Low uptake of prenatal screening for Down syndrome in minority ethnic groups and socially deprived groups: a reflection of women's attitudes or a failure to facilitate informed choices?

Background: It is not known if lower uptake of prenatal screening for Down syndrome in women from minority ethnic groups and socioeconomically disadvantaged women reflects more negative attitudes towards undergoing the test or women not acting in line with their attitudes i.e. not making an informed choice.

Uptake of a prenatal screening test: the role of healthcare professionals' attitudes towards the test.

Objective: To investigate the association between healthcare professionals' attitudes towards prenatal Down syndrome screening and screening uptake in the women who consult them.

Methods: The attitudes of 71 midwives and 18 obstetricians towards Down syndrome screening and screening uptake in the women who consulted them were assessed at two UK hospitals where uptake rates of Down syndrome screening differed (26 vs 61%).

Results: Healthcare professionals based at the hospital with higher screening uptake had more positive attitudes towards Down syndrome screening than healthcare professionals based at the hospital with lower screening uptake (19 vs 17, p = 0.

Increasing screening uptake amongst those intending to be screened: the use of action plans.

This experimental study investigates an intervention designed to increase rates of antenatal screening uptake in those intending to undergo antenatal screening. Eighty-eight pregnant women intending to undergo prenatal screening were alternately allocated to standard care or asked to write a simple plan for attending or making an appointment. Twenty-five (63%) in the intervention group made an action plan.

Informed choice: understanding knowledge in the context of screening uptake.

This study evaluates a scale measuring knowledge about a screening test and investigates the association between knowledge, uptake and attitudes towards screening. One thousand four hundred ninety-nine pregnant women completed the knowledge scale of the multidimensional measure of informed choice (MMIC). Three hundred forty-five of these women and 152 professionals providing antenatal care also rated the importance of the knowledge items.