Protocol for a feasibility and acceptability study for UK general population paediatric type 1 diabetes screening-the EarLy Surveillance for Autoimmune diabetes (ELSA) study.

Aim: The EarLy Surveillance for Autoimmune (ELSA) study aims to explore the feasibility and acceptability of UK paediatric general population screening for type 1 diabetes.

Methods: We aim to screen 20,000 children aged 3-13 years for islet-specific autoantibodies through dried blood spot sample collection at home, hospital or community settings. Children with two or more autoantibodies are offered metabolic staging via oral glucose challenge testing.

Neurologists' understanding of reproductive medicine options for genetic forms of motor neuron disease.

Objectives: To examine the knowledge, confidence and practice of motor neuron disease (MND) clinicians toward discussing reproductive options with people who carry a causal variant in an MND gene (both clinically affected and asymptomatic).

Methods: An online cross-sectional survey was distributed nationwide to UK MND clinicians and clinical geneticists and genetic counselors. The survey assessed respondents' understanding on reproductive medicine techniques; their confidence in discussing reproductive medicine options and their access to information resources.

Preferences for Peer Support Amongst Families Engaged in Paediatric Screening Programmes: The Perspectives of Parents Involved in Screening for Type 1 Diabetes in Children Aged 3-13.

Introduction: This work describes a secondary analysis of a qualitative data set originally used to understand parent participants' preferences for the design and implementation of a screening programme for paediatric Type 1 diabetes (T1D). From this, their spontaneous preferences for peer support emerged, described here in the context of existing peer support programmes for the newly diagnosed alongside suggestions for their incorporation into screening programmes for T1D and a range of other conditions.

Methods: Data were collected from semi-structured interviews conducted with parents of children aged 3-13 years to explore their expectations, perceptions and preferences of a T1D paediatric screening programme.

Preconception health among migrant women in England: A cross-sectional analysis of maternity services data 2018-2019.

Background: Perinatal outcomes are poor among migrant women in vulnerable situations, but little is known about their health preconception. We investigated preconception health inequalities between migrant women in vulnerable situations and non-migrant women.

Methods: This national cross-sectional study used data from the NHS Maternity Services Data Set (MSDS) version 1.

Unpacking the notion of "serious" genetic conditions: towards implementation in reproductive decision-making?

The notion of a "serious" genetic condition is commonly used in clinical contexts, laws, and policies to define and delineate both the permissibility of and, access to, reproductive genomic technologies. Yet, the notion lacks conceptual and operational clarity, which can lead to its inconsistent appraisal and application. A common understanding of the relevant considerations of "serious" is lacking.

Benefits and harms of antenatal and newborn screening programmes in health economic assessments: the VALENTIA systematic review and qualitative investigation.

Background: Health economic assessments are used to determine whether the resources needed to generate net benefit from an antenatal or newborn screening programme, driven by multiple benefits and harms, are justifiable. It is not known what benefits and harms have been adopted by economic evaluations assessing these programmes and whether they omit benefits and harms considered important to relevant stakeholders.

Objectives: (1) To identify the benefits and harms adopted by health economic assessments in this area, and to assess how they have been measured and valued; (2) to identify attributes or relevance to stakeholders that ought to be considered in future economic assessments; and (3) to make recommendations about the benefits and harms that should be considered by these studies.

A mixed-methods study of women's birthplace preferences and decisions in England.

Problem: Choice has been a key aspect of maternity care policy in England since 1993, however a gap remains between the birthplaces women want and where they actually give birth.

Background: The latest maternity care policy in England acknowledges that women are not being given 'real choice' in their care and often being told what to do. This is problematic since unfulfilled preferences have been linked to negative childbirth experiences.

International Perspectives of Extended Genetic Sequencing When Used as Part of Newborn Screening to Identify Cystic Fibrosis.

There is increasing interest in using extended genetic sequencing (EGS) in newborn screening (NBS) for cystic fibrosis (CF). How this is implemented will change the number of children being given an uncertain outcome of CRMS/CFSPID (cystic fibrosis transmembrane conductance regulator (CFTR)-related metabolic syndrome/CF Screen Positive Inconclusive Diagnosis), probable carrier results, and the number of missed CF diagnoses. An international survey of CF health professionals was used to gather views on two approaches to EGS-specific (may reduce detection of CRMS/CFSID but miss some CF cases) versus sensitive (may increase detection of CRMS/CFSPID but avoid missing more CF cases).

Stakeholder Views of the Proposed Introduction of Next Generation Sequencing into the Cystic Fibrosis Screening Protocol in England.

The project aimed to gather, analyse, and compare the views of stakeholders about the proposed UK cystic fibrosis (CF) screening protocol incorporating next generation sequencing (NGS). The study design was based on principles of Q-methodology with a willingness-to-pay exercise. Participants were recruited from 12 CF centres in the UK.

General population screening for paediatric type 1 diabetes-A qualitative study of UK professional stakeholders.

Aims: Identifying children at risk of type 1 diabetes allows education for symptom recognition and monitoring to reduce the risk of diabetic ketoacidosis at presentation. We aimed to explore stakeholder views towards paediatric general population screening for type 1 diabetes in the United Kingdom (UK).

Methods: Qualitative interviews were undertaken with 25 stakeholders, including diabetes specialists, policymakers and community stakeholders who could be involved in a future type 1 diabetes screening programme in the UK.

Benefits and harms adopted by health economic assessments evaluating antenatal and newborn screening programmes in OECD countries: A systematic review of 336 articles and reports.

Background: Health economic assessments are used to determine whether the resources needed to generate net benefit from a screening programme, driven by multiple complex benefits and harms, are justifiable. We systematically identified the benefits and harms incorporated within economic assessments evaluating antenatal and newborn screening programmes.

Methods: For this systematic review and thematic analysis, we searched the published and grey literature from January 2000 to January 2021.

Expressivist objections to prenatal screening and testing: Perceptions of people living with disability.

The 'expressivist objection' (EO) refers to the notion that using reproductive (genetic) technologies to prevent the birth of future would-be disabled people contain, and express, a negative valuation of life with disability. Whilst the EO has received increased attention in recent years in line with rapid technological and genomic developments, there remains scant research on how EO concerns are experienced and expressed by disabled people and their families, especially within and between impairment groups. Bringing together two studies-one with adults and family members living with genetic conditions (n = 62) and one with parents of children with Down's syndrome (n = 22)-we argue that disabled people and their families variously embrace, reject or rework the EO across contexts, and yet also frequently situate it within broad support for reproductive technologies.

EarLy Surveillance for Autoimmune diabetes: protocol for a qualitative study of general population and stakeholder perspectives on screening for type 1 diabetes in the UK (ELSA 1).

Objective: Type 1 diabetes (T1D) is the most common form of diabetes in children, accounting for 96% of cases, with 29 000 children affected in the UK. Studies have recently identified immunotherapies that safely delay the development of T1D for at least 3 years, and further therapies are in development. General population screening programs in other countries can now accurately identify children with presymptomatic T1D who can be entered into prevention studies.

'We're kind of like genetic nomads': Parents' experiences of biographical disruption and uncertainty following in/conclusive results from newborn cystic fibrosis screening.

As whole genome sequencing is being considered as a tool to deliver expanded newborn screening (NBS) globally, the range of equivocal results it could produce are gaining increased attention. For cystic fibrosis (CF) screening, the use of next generation sequencing within existing UK NBS programmes would increase the number of uncertain designations returned within results, including that of Cystic Fibrosis Screen Positive Inconclusive Diagnosis (CFSPID). However, the experiences of families already living with this designation have been under-explored.

Exploring trust in (bio)medical and experiential knowledge of birth: The perspectives of pregnant women, new mothers and maternity care providers.

Objective: To explore women's and maternity care providers' experiences of birth, and the roles of (bio)medical and experiential knowledge therein.

Research Design/setting: In-depth qualitative interviews were undertaken with pregnant women and new mothers (n = 14) as well as with a range of maternity care providers working for the National Health Service (n = 6) and privately (n = 7).

Findings: Trust emerged as a key concept in women's and maternity care providers' narratives.

Enabling women to access preferred methods of contraception: a rapid review and behavioural analysis.

Background: Many pregnancies in the UK are either unplanned or ambivalent. This review aimed to (i) explore barriers and facilitators to women choosing and accessing a preferred method of contraception in the United Kingdom, and (ii) identify opportunities for behavioural interventions based on examination of interventions that are currently available nationally.

Methods: Three databases were searched, and experts contacted to identify grey literature for studies presenting barriers and facilitators to women choosing and accessing a preferred method of contraception, conducted in the UK and published between 2009 and October 2019.

What is a 'serious' genetic condition? The perceptions of people living with genetic conditions.

Despite no consensus on the definition of 'seriousness', the concept is regularly used in policy and practice contexts to categorise conditions, determine access to genetic technologies and uses of selective pregnancy termination. Whilst attempts have been made to create taxonomies of genetic condition seriousness to inform clinical and policy decision-making, these have often relied on condition appraisals made by health and genetics professionals. The views of people with genetic conditions have been largely under-represented.

Absorbing it all: A meta-ethnography of parents' unfolding experiences of newborn screening.

In a context of increasing international dialogue around the appropriate means and ends of newborn screening programmes, it is critical to explore the perspectives of those directly impacted by such screening. This meta-ethnography uses a systematic review process to identify qualitative studies that focus on parents' experiences of newborn screening published in English-language academic journals from 2000 to 2019 (n = 36). The included studies represent a range of moments, outcomes, and conditions that illuminate discrete elements of the newborn screening journey.

Children's perspectives and experiences of health, diet, physical activity and weight in an urban, multi-ethnic UK population: A qualitative study.

Background: Children from Black and South Asian ethnic groups are at risk for childhood obesity in the United Kingdom. To inform local action for childhood obesity prevention, it is crucial to explore the basis of ethnic disparities and consider the perspectives of children. This study aimed to understand cultural and contextual factors influencing childhood obesity in an ethnically diverse population using child-centred methodology.

Attitudes toward population screening among people living with fragile X syndrome in the UK: 'I wouldn't wish him away, I'd just wish his fragile X syndrome away'.

In an age of expanded genetic screening, fragile X syndrome is increasingly considered a candidate condition, given its prevalence, the absence of curative interventions, and its impact on families. However, relatively little research has explored the views of families and people living with fragile X syndrome toward population screening. This study reports on in-depth interviews with 19 participants: 3 with people diagnosed with a fragile X condition (fragile X syndrome = 2, FXTAS = 1) and 16 people with fragile X syndrome in their family (11 parents, 2 grandparents, 1 spouse, 1 sibling, and 1 aunt) living in the UK.

Which types of conditions should be included in reproductive genetic carrier screening? Views of parents of children with a genetic condition.

Reproductive genetic carrier screening identifies couples with an increased chance of having children with autosomal and X-linked recessive conditions. Initially only offered for single conditions to people with a high priori risk, carrier screening is becoming increasingly offered to individuals/couples in the general population for a wider range of genetic conditions. Despite advances in genomic testing technology and greater availability of carrier screening panels, there is no consensus around which types of conditions to include in carrier screening panels.

Social and cultural influences on genetic screening programme acceptability: A mixed-methods study of the views of adults, carriers, and family members living with thalassemia in the UK.

As population-level carrier screening panels for reprogenetic information emerge globally, conditions to be included, and the timing of implementation is widely debated. Thalassemia is the only condition for which population-based prenatal carrier screening is offered in the UK. However, little is known about the views and experiences of the UK thalassemia-affected community toward this screening or other forms of genetic screening for thalassemia (newborn, preconception), despite the range of direct consequences of screening programmes for this group.