Views of children and young adults about Whole Genome Sequencing in newborn screening: a qualitative study.

Whole Genome Sequencing (WGS) in newborn screening is ethically complex. Parents will provide proxy consent for initial participation and 16-year-olds will be approached to consent to continued storage of their genome. We explored the views of 11-25-year-olds to understand the information needs of this age group and the views of the next generation of parents.

Understanding the psychological impact of identifying carrier status on young adults: A qualitative study exploring peer reactions.

The benefits and harms of identifying carriers in childhood have long been debated with European Guidelines advising against this practice. Yet over a thousand carriers are identified via newborn bloodspot screening per year in the United Kingdom alone. One of the concerns about identification is the impact it has on an individual's identity.

Understanding the Impact of Different Modes of Information Provision on Preferences for a Newborn Bloodspot Screening Program in the United Kingdom.

Unlabelled: This study aimed to understand the impact of alternative modes of information provision on the stated preferences of a sample of the public for attributes of newborn bloodspot screening (NBS) in the United Kingdom. An online discrete choice experiment survey was designed using 4 attributes to describe NBS (effect of treatment on the condition, time to receive results, whether the bloodspot is stored, false-positive rate). Survey respondents were randomized to 1 of 2 survey versions presenting the background training materials using text from a leaflet (leaflet version) or an animation (animation version).

Exploring NICU nurses' views of a novel genetic point-of-care test identifying neonates at risk of antibiotic-induced ototoxicity: A qualitative study.

Aim: To explore the views of neonatal intensive care nursing staff on the deliverability of a novel genetic point-of-care test detecting a genetic variant associated with antibiotic-induced ototoxicity.

Design: An interpretive, descriptive, qualitative interview study.

Methods: Data were collected using semi-structured interviews undertaken between January and November 2020.

What do women think about having received their breast cancer risk as part of a risk-stratified NHS Breast Screening Programme? A qualitative study.

Background: Risk-stratified screening is being considered for national breast screening programmes. It is unclear how women experience risk-stratified screening and receipt of breast cancer risk information in real time. This study aimed to explore the psychological impact of undergoing risk-stratified screening within England's NHS Breast Screening Programme.

The role of knowledge, primary care and community engagement to improve breast-screening access for Pakistani women in the United Kingdom: A secondary analysis of a qualitative study.

Objective: Breast cancer incidence is rising among Pakistani women in the United Kingdom. However, uptake of breast screening remains low. This study aimed to improve access to breast screening for British-Pakistani women by exploring their knowledge of breast cancer and the role of primary care and community networks to support screening access amongst British-Pakistani women.

Quantifying the effects of risk-stratified breast cancer screening when delivered in real time as routine practice versus usual screening: the BC-Predict non-randomised controlled study (NCT04359420).

Background: Risk stratification as a routine part of the NHS Breast Screening Programme (NHSBSP) could provide a better balance of benefits and harms. We developed BC-Predict, to offer women when invited to the NHSBSP, which collects standard risk factor information; mammographic density; and in a sub-sample, a Polygenic Risk Score (PRS).

Methods: Risk prediction was estimated primarily from self-reported questionnaires and mammographic density using the Tyrer-Cuzick risk model.

The co-development of personalised 10-year breast cancer risk communications: a 'think-aloud' study.

Background: Risk stratified breast cancer screening is being considered as a means of improving the balance of benefits and harms of mammography. Stratified screening requires the communication of risk estimates. We aimed to co-develop personalised 10-year breast cancer risk communications for women attending routine mammography.

Healthcare professionals' views following implementation of risk stratification into a national breast cancer screening programme.

Background: It is crucial to determine feasibility of risk-stratified screening to facilitate successful implementation. We introduced risk-stratification (BC-Predict) into the NHS Breast Screening Programme (NHSBSP) at three screening sites in north-west England from 2019 to 2021. The present study investigated the views of healthcare professionals (HCPs) on acceptability, barriers, and facilitators of the BC-Predict intervention and on the wider implementation of risk-based screening after BC-Predict was implemented in their screening site.

: A qualitative investigation of adolescents' coping goals when dealing with pain related to arthritis and the underlying parent-adolescent personal models.

The aim of the current study was to examine adolescents' goals when coping with pain and map these goals to the cognitive and emotional profiles of both adolescent and their parent. 17 adolescents (11-16 years) and their parents participated in a cohort study of Juvenile Idiopathic Arthritis (JIA); the adolescents, took part in a two-part interview (about their pain perceptions and about a recent pain experience) and the parents completed an open-ended qualitative survey. The three datasets were analysed following a qualitative framework approach.

Psychological and Ethical Challenges of Introducing Whole Genome Sequencing into Routine Newborn Screening: Lessons Learned from Existing Newborn Screening.

As a psychologist and an ethicist, we have explored empirically newborn screening consent and communication processes. In this paper we consider the impact on families if newborn screening uses whole genome sequencing. We frame this within the World Health Organization's definition of health and contend that proposals to use whole genome sequencing in newborn screening take into account the ethical, practical and psychological impact of such screening.

The feasibility of implementing risk stratification into a national breast cancer screening programme: a focus group study investigating the perspectives of healthcare personnel responsible for delivery.

Background: Providing women with personalized estimates of their risk of developing breast cancer, as part of routine breast cancer screening programmes, allows women at higher risk to be offered more frequent screening or drugs to reduce risk. For this to be feasible, the concept and practicalities have to be acceptable to the healthcare professionals who would put it in to practice. The present research investigated the acceptability to healthcare professionals who were responsible for the implementation of this new approach to screening in the ongoing BC-Predict study.

"We want to live a little longer and our family want[s] us around": A summative content analysis of adherence to COVID-19-related guidelines using the Theoretical Domains Framework.

Objective: Public adherence to COVID-19-related government guidance varied during the initial lockdown in the UK, but the determinants of public adherence to such guidance are unclear. We capture spontaneous reflections on adherence to UK government guidance from a representative UK sample, and use the TDF to identify key determinants of COVID-related behaviours.

Design: The design was cross-sectional.

Rapid Point-of-Care Genotyping to Avoid Aminoglycoside-Induced Ototoxicity in Neonatal Intensive Care.

Importance: Aminoglycosides are commonly prescribed antibiotics used for the treatment of neonatal sepsis. The MT-RNR1 m.1555A>G variant predisposes to profound aminoglycoside-induced ototoxicity (AIO).

Receiving results of uncertain clinical relevance from population genetic screening: systematic review & meta-synthesis of qualitative research.

Genetic screening can be hugely beneficial, yet its expansion poses clinical and ethical challenges due to results of uncertain clinical relevance (such as 'cystic fibrosis screen positive, inconclusive diagnosis'/CFSPID). This review systematically identifies, appraises, and synthesises the qualitative research on experiences of receiving results of uncertain clinical relevance from population genetic screening. Eight databases were systematically searched for original qualitative research using the SPIDER framework, and checked against inclusion criteria by the research team and an independent researcher.

Exploring the role of Islam on the lived experience of patients with Long QT Syndrome in Saudi Arabia.

Genetic services are rapidly growing in the Arab world leading to increasing number of patients being diagnosed with genetic disorders. Islam is the only/major religion of the local population in these countries. Muslim patients integrate religion in virtually every aspect of their lives, and it is vital to understand the role of Islam on their coping and decision-making in the context of genetic counseling.

Process evaluation of co-designed interventions to improve communication of positive newborn bloodspot screening results.

Objective: To implement and evaluate co-designed interventions to improve communication of positive newborn bloodspot screening results and make recommendations for future research and practice.

Design: A process evaluation underpinned by Normalisation Process Theory.

Setting: Three National Health Service provider organisations in England.

Pharmacogenetics to Avoid Loss of Hearing (PALOH) trial: a protocol for a prospective observational implementation trial.

Introduction: In conjunction with a beta-lactam, aminoglycosides are the first-choice antibiotic for empirical treatment of sepsis in the neonatal period. The m.1555A>G variant predisposes to ototoxicity after aminoglycoside administration and has a prevalence of 1 in 500.

Processing of positive newborn screening results: a qualitative exploration of current practice in England.

Objective: To explore current communication practices for positive newborn screening results from the newborn bloodspot screening (NBS) laboratory to clinicians to highlight differences, understand how the pathways are implemented in practice, identify barriers and facilitators and make recommendations for future practice and research.

Design: A qualitative exploratory design was employed using semi-structured interviews.

Setting: Thirteen NBS laboratories in England.

Constructing a Bioethical Framework to Evaluate and Optimise Newborn Bloodspot Screening for Cystic Fibrosis.

Newborn bloodspot screening for cystic fibrosis is a valid public health strategy for populations with a high incidence of this inherited condition. There are a wide variety of approaches to screening and in this paper, we propose that a bioethical framework is required to determine the most appropriate screening protocol for a population. This framework depends on the detailed evaluation of the ethical consequences of all screening outcomes and placing these in the context of the genetic profile of the population screened, the geography of the region and the healthcare resources available.

Qualitative exploration of health professionals' experiences of communicating positive newborn bloodspot screening results for nine conditions in England.

Objective: To explore health professionals' experiences of communicating positive newborn bloodspot screening (NBS) results, highlight differences, share good practice and make recommendations for future research.

Design: Qualitative exploratory design was employed using semi-structured interviews SETTING: Three National Health Service provider organisations in England PARTICIPANTS: Seventeen health professionals involved in communicating positive newborn bloodspot screening results to parents for all nine conditions currently included in the newborn bloodspot screening programme in England.

Results: Findings indicated variation in approaches to communicating positive newborn bloodspot screening results to parents, largely influenced by resources available and the lack of clear guidance.