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. METHODS: Individual telephone interviews were conducted with 40 women who participated in the BC-Predict study and received a letter indicating their estimated breast cancer risk as one of four risk categories: low (<2% 10-year risk), average (2-4.99%), above average (moderate; 5-7.99%) or high (≥8%). Audio-recorded interview transcriptions were analysed using reflexive thematic analysis. RESULTS: Two themes were produced: 'From risk expectations to what's my future health story?' highlights that women overall valued the opportunity to receive risk estimates; however, when these were discordant with perceived risk, this causes temporary distress or rejection of the information. 'Being a good (woman) citizen' where women felt positive contributing to society but may feel judged if they then cannot exert agency over the management of their risk or access follow-up support CONCLUSIONS: Risk-stratified breast screening was generally accepted without causing long-lasting distress; however, issues related to risk communication and access to care pathways need to be considered for implementation.

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. Women eligible for NHSBSP were recruited. BC-Predict produced risk feedback letters, inviting women at high risk (≥8% 10-year) or moderate risk (≥5-<8% 10-year) to have appointments to discuss prevention and additional screening. RESULTS: Overall uptake of BC-Predict in screening attendees was 16.9% with 2472 consenting to the study; 76.8% of those received risk feedback within the 8-week timeframe. Recruitment was 63.2% with an onsite recruiter and paper questionnaire compared to <10% with BC-Predict only (P < 0.0001). Risk appointment attendance was highest for those at high risk (40.6%); 77.5% of those opted for preventive medication. DISCUSSION: We have shown that a real-time offer of breast cancer risk information (including both mammographic density and PRS) is feasible and can be delivered in reasonable time, although uptake requires personal contact. Preventive medication uptake in women newly identified at high risk is high and could improve the cost-effectiveness of risk stratification. TRIAL REGISTRATION: Retrospectively registered with clinicaltrials.gov (NCT04359420).

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. METHODS: We undertook a secondary qualitative analysis of 18 semi-structured interviews with British-Pakistani women from East Lancashire in the United Kingdom. Anonymized transcripts of the interviews were used for a thematic analysis. RESULTS: Three themes were identified in the interviewees' responses: (i) 'Women's knowledge of breasts and breast cancer', which described how a cultural taboo exists around Pakistani women's bodies and around breast cancer; (ii) 'Role of primary care', which detailed how General Practitioners can support informed decisions and offer a trusted and valued information source; (iii) 'Community engagement', which described the potential to disseminate breast-screening information through the whole community, including primary care providers, all family members and mosques. CONCLUSIONS: Our analysis suggested three main targets for future interventions to improve access to breast screening for British-Pakistani women: (i) co-produced strategies to increase knowledge of breasts and breast screening; (ii) greater collaboration with local General Practitioners to support women to make informed choices about screening; and (iii) community engagement involving General Practitioners and community leaders, to inform everyone - not just screening-age women - about breast cancer and screening.

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. METHODS: We conducted think-aloud interviews on prototype breast cancer risk letters and accompanying information leaflets with women receiving breast screening through the UK National Breast Screening Programme. Risk information was redesigned following feedback from 55 women in three iterations. A deductive thematic analysis of participants' speech is presented. RESULTS: Overall, participants appreciated receiving their breast cancer risk. Their comments focused on positive framing and presentation of the risk estimate, a desire for detail on the contribution of individual risk factors to overall risk and effective risk management strategies, and clearly signposted support pathways. CONCLUSION: Provision of breast cancer risk information should strive to be personal, understandable and meaningful. Risk information should be continually refined to reflect developments in risk management. Receipt of risk via letter is welcomed but concerns remain around the acceptability of informing women at higher risk in this way, highlighting a need for co-development of risk dissemination and support pathways.

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. METHODS: Fourteen semi-structured interviews were conducted with HCPs working across the breast screening pathway at three NHSBSP sites that implemented BC-Predict. Thematic analysis interpreted the data. RESULTS: Three pre-decided themes were produced. (1) Acceptability of risk-based screening: risk-stratification was perceived as a beneficial step for both services and women. HCPs across the pathway reported low burden of running the BC-Predict trial on routine tasks, but with some residual concerns; (2) Barriers to implementation: comprised capacity constraints of services including the inadequacy of current IT systems to manage women with different risk profiles and, (3) Facilitators to implementation: included the continuation of stakeholder consultation across the pathway to inform implementation and need for dedicated risk screening admin staff, a push for mammography staff recruitment and guidance for screening services. Telephone helplines, integrating primary care, and supporting access for all language needs was emphasised. CONCLUSION: Risk-stratified breast screening was viewed as a progressive step providing it does not worsen inequalities for women. Implementation of risk-stratified breast screening requires staff to be reassured that there will be systems in place to support implementation and that it will not further burden their workload. Next steps require a comprehensive assessment of the resource needed for risk-stratification versus current resource availability, upgrades to screening IT and building screening infrastructure. The role of primary care needs to be determined. Simplification and clarification of risk-based screening pathways is needed to support HCPs agency and facilitate implementation. Forthcoming evidence from ongoing randomised controlled trials assessing effectiveness of breast cancer risk-stratification will also determine implementation.

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. METHODS: Four focus groups were conducted with 29 healthcare professionals from a variety of professional backgrounds working within three breast screening services in north-west England. An inductive-manifest thematic analysis was conducted. RESULTS: Overall, healthcare professionals viewed the implementation of personalised breast cancer risk estimation as a positive step, but discussion focused on concerns. Three major themes are presented. (1) Service constraints highlights the limited capacity within current breast services and concerns about the impact of additional workload. (2) Risk communication concerns the optimal way to convey risk to women within resource constraints. (3) Accentuating inequity discusses how risk stratification could decrease screening uptake for underserved groups. CONCLUSIONS: Staff who implemented risk stratification considered it a positive addition to routine screening. They considered it essential to consider improving capacity and demands on healthcare professional time. They highlighted the need for skilled communication of risks and new pathways of care to ensure that stratification could be implemented in financially and time constrained settings without impacting negatively on women.

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. Nine papers were included (from USA, Canada, UK, New Zealand). PRISMA, ENTREQ, and EMERGE guidance were used to report. Quality was appraised using criteria for qualitative research. All papers focused on parental responses to uncertain results from newborn screening. Data were synthesised using meta-ethnography and first- and second-order constructs. Findings suggest that results of uncertain clinical relevance are often experienced in the same way as a 'full-blown' diagnosis. This has significant emotional and behavioural impact, for example adoption of lifestyle-altering disease-focused behaviours. Analysis suggests this may be due to the results not fitting a common medical model, leading recipients to interpret the significance of the result maladaptively. Findings suggest scope for professionals to negotiate and reframe uncertain screening results. Clearer initial communication is needed to reassure recipients there is no immediate severe health risk from these types of results. Public understanding of an appropriate medical model, that accounts for uncertain genetic screening results in a non-threatening way, may be key to maximising the benefits of genomic medicine and minimising potential psychological harm.

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. PARTICIPANTS: Seventy-one clinicians; 22 NBS laboratory staff across 13 laboratories and 49 members of relevant clinical teams were interviewed. RESULTS: Assurance of quality and consistency was a priority for all NBS laboratories. Findings indicated variation in approaches to communicating positive NBS results from laboratories to clinical teams. This was particularly evident for congenital hypothyroidism and was largely influenced by local arrangements, resources and the fact individual laboratories had detailed standard operating procedures for how they work. Obtaining feedback from clinical teams to the laboratory after the child had been seen could be challenging and time-consuming for those involved. Pathways for communicating carrier results for cystic fibrosis and sickle cell disease could be ambiguous and inconsistent which in turn could hamper the laboratories efforts to obtain timely feedback regarding whether or not the result had been communicated to the family. Communication pathways for positive NBS results between laboratories and clinical teams could therefore be time-consuming and resource-intensive. CONCLUSION: The importance placed on ensuring positive NBS results were communicated effectively and in a timely fashion from the laboratory to the clinical team was evident from all participants. However, variation existed in terms of the processes used to report positive NBS results to clinical teams and the people involved. Variant practice identified may reflect local needs, but more often reflected local resources and a more consistent 'best practice' approach is required, not just in the UK but perhaps globally. TRIAL REGISTRATION NUMBER: ISRCTN15330120.

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. Health professionals emphasised the importance of communicating results to families in a way that is sensitive to their needs. However, many challenges hindered communication including logistical considerations; difficulty contacting the family and other health professionals; language barriers; parental reactions; resource considerations; lack of training; and insufficient time. CONCLUSION: Health professionals invest a lot of time and energy trying to ensure communication of positive newborn bloodspot screening results to families is done well. However, there continues to be great variation in the way these results are communicated to parents and this is largely influenced by resources available but also the lack of concrete guidance. How best to support health professionals undertaking this challenging and emotive task requires further exploration. We recommend evaluation of a more cohesive approach that meets the needs of parents and staff while being sensitive to the subtleties of each condition. TRIAL REGISTRATION NUMBER: ISRCTN15330120.

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.

What are the benefits and harms of risk stratified screening as part of the NHS breast screening Programme? Study protocol for a multi-site non-randomised comparison of BC-predict versus usual screening (NCT04359420).

BACKGROUND: In principle, risk-stratification as a routine part of the NHS Breast Screening Programme (NHSBSP) should produce a better balance of benefits and harms. The main benefit is the offer of NICE-approved more frequent screening and/ or chemoprevention for women who are at increased risk, but are unaware of this. We have developed BC-Predict, to be offered to women when invited to NHSBSP which collects information on risk factors (self-reported information on family history and hormone-related factors via questionnaire; mammographic density; and in a sub-sample, Single Nucleotide Polymorphisms). BC-Predict produces risk feedback letters, inviting women at high risk (≥8% 10-year) or moderate risk (≥5 to < 8% 10-year) to have discussion of prevention and early detection options at Family History, Risk and Prevention Clinics. Despite the promise of systems such as BC-Predict, there are still too many uncertainties for a fully-powered definitive trial to be appropriate or ethical. The present research aims to identify these key uncertainties regarding the feasibility of integrating BC-Predict into the NHSBSP. Key objectives of the present research are to quantify important potential benefits and harms, and identify key drivers of the relative cost-effectiveness of embedding BC-Predict into NHSBSP. METHODS: A non-randomised fully counterbalanced study design will be used, to include approximately equal numbers of women offered NHSBSP (n = 18,700) and BC-Predict (n = 18,700) from selected screening sites (n = 7). In the initial 8-month time period, women eligible for NHSBSP will be offered BC-Predict in four screening sites. Three screening sites will offer women usual NHSBSP. In the following 8-months the study sites offering usual NHSBSP switch to BC-Predict and vice versa. Key potential benefits including uptake of risk consultations, chemoprevention and additional screening will be obtained for both groups. Key potential harms such as increased anxiety will be obtained via self-report questionnaires, with embedded qualitative process analysis. A decision-analytic model-based cost-effectiveness analysis will identify the key uncertainties underpinning the relative cost-effectiveness of embedding BC-Predict into NHSBSP. DISCUSSION: We will assess the feasibility of integrating BC-Predict into the NHSBSP, and identify the main uncertainties for a definitive evaluation of the clinical and cost-effectiveness of BC-Predict. TRIAL REGISTRATION: Retrospectively registered with clinicaltrials.gov (NCT04359420).

The introduction of risk stratified screening into the NHS breast screening Programme: views from British-Pakistani women.

BACKGROUND: UK national guidelines suggest women at high-risk of breast cancer should be offered more frequent screening or preventative medications. Currently, only 1 in 6 high-risk women are identified. One route to identify more high-risk women is via multifactorial risk assessment as part of the UK's NHS Breast Screening Programme (NHSBSP). As lower socioeconomic and minority ethnic populations continue to experience barriers to screening, it is important that any new service does not exacerbate issues further. To inform service development, this study explored views of women from underserved backgrounds regarding the introduction of risk stratification into the NHSBSP. METHODS: Nineteen semi-structured interviews were conducted with British-Pakistani women from low socioeconomic backgrounds from East Lancashire, UK. Fourteen interviews were conducted via an interpreter. RESULTS: Thematic analysis produced three themes. Attitudes toward risk awareness concerns the positive views women have toward the idea of receiving personalised breast cancer risk information. Anticipated barriers to accessibility emphasises the difficulties associated with women's limited English skills for accessing information, and their I.T proficiency for completing an online risk assessment questionnaire. Acceptability of risk communication strategy highlights the diversity of opinion regarding the suitability of receiving risk results via letter, with the option for support from a healthcare professional deemed essential. CONCLUSIONS: The idea of risk stratification was favourable amongst this underserved community. To avoid exacerbating inequities, this new service should provide information in multiple languages and modalities and offer women the opportunity to speak to a healthcare professional about risk. This service should also enable completion of personal risk information via paper questionnaires, as well as online.

Engagement barriers and service inequities in the NHS Breast Screening Programme: Views from British-Pakistani women.

OBJECTIVES: Previous research has largely attempted to explore breast screening experiences of South Asian women by combining opinions from Pakistani, Bangladeshi, and Indian women. This research often fails to reach the most underserved sub-groups of this population, with socioeconomic status not routinely reported, and English fluency being a participation requirement. With uptake low amongst British-Pakistani women, this study explores the experiences these women encounter when accessing the NHS Breast Screening Programme. METHODS: 19 one-to-one semi-structured interviews were carried out with British-Pakistani women from East Lancashire, UK. 14 interviews were conducted via an interpreter. RESULTS: Data were analysed using thematic analysis. Three themes were identified: 'Absence of autonomy in screening and healthcare access' describes how currently the screening service does not facilitate confidentiality or independence. Access requires third-party intervention, with language barriers preventing self-expression. 'Appraisal of information sources' makes distinctions between community and NHS communication. Whereas community communication was invaluable, NHS materials were deemed inaccessible due to translation incongruences and incomprehensible terminology. 'Personal suppositions of breast screening' explores the subjective issues associated with disengagement, including, the cultural misalignment of the service, and perceiving screening as a symptomatic service. CONCLUSIONS: British-Pakistani women face some unique challenges when accessing breast screening. To promote uptake, the service needs to address the translation of screening materials and optimize upon community networks to disseminate knowledge, including knowledge of the screening environment within the context of culture to promote informed choice about attendance.

Rethinking Strategies for Positive Newborn Screening Result (NBS+) Delivery (ReSPoND): a process evaluation of co-designing interventions to minimise impact on parental emotional well-being and stress.

BACKGROUND: Newborn blood spot (NBS) screening seeks to prevent ill health, disability and death through early diagnosis and effective intervention. Each year, around 10,000 parents of babies born in England are given a positive NBS result indicating their child may be affected or carriers of one of the nine conditions currently screened for. Despite guidance, these results are inconsistently delivered to parents across geographical regions. There is evidence that many parents are dissatisfied with how NBS results are communicated to them and that poor communication practices can lead to various negative sequelae. The purpose of this study is to co-design, implement and undertake a process evaluation of new, co-designed interventions to improve delivery of initial positive NBS results to parents. METHODS: This mixed-methods study will use four phases with defined outputs. Family Systems Theory will form the theoretical basis for the study. The principles and methods of experience-based co-design will underpin intervention development. Normalisation Process Theory will underpin the process evaluation of the interventions co-designed to improve the delivery of positive NBS results to parents. An economic analysis will determine resource use and costs of current practice and of implementing the new co-designed interventions. The nominal group technique will be used to inform the selection of suitable outcome measures for a future evaluation study. DISCUSSION: The main output of the proposed study will be co-designed interventions for initial communication of positive NBS results to parents ready to be evaluated in a definitive evaluation study.The interventions, co-designed with parents, will help to minimise potential negative sequelae associated with poor communication practices by considering parental and staff experiences as well as healthcare challenges such as finite resources. In addition, information about indicative costs associated with different communication strategies will be determined.It is anticipated it may also be possible to extrapolate principles of good communication practices from the present study for the delivery of bad news to parents for children newly diagnosed with other conditions including cancer and other chronic conditions such as diabetes or epilepsy. TRIAL REGISTRATION: ISRCTN 15330120 date of registration 17/01/2018.

Psychological Impact on Parents of an Inconclusive Diagnosis Following Newborn Bloodspot Screening for Cystic Fibrosis: A Qualitative Study.

Genetic results of uncertain clinical significance are being returned to parents following newborn screening, representing a paradigm change in how society considers health and illness. 'Cystic Fibrosis screen positive, inconclusive diagnosis' (CFSPID) is a designation given to newborns with a positive screening result for, but not a definitive diagnosis of, cystic fibrosis. We explored the psychological impact of receiving a CFSPID result on parents. Five semi-structured interviews were conducted with eight parents whose children have CFSPID. Interpretative phenomenological analysis identified these themes: "The way we were told": 'diagnosis as a traumatic event' focused on how parents were distressed and dissatisfied by the initial screening result communication, 'Facing and challenging traditional ideas about health and illness' explored the emerging problem of how CFSPID does not fit the commonly accepted medical model, and 'Making certainty out of uncertainty' explored the varying strategies parents developed to adapt to the uncertainty regarding their child's prognosis. Findings suggest that CFSPID results caused parents' distress, initiated with the first communication of the result and persisting thereafter. Our data suggests approaches to the delivery of CFSPID results that may reduce the impact. Work is needed to close the gap between healthcare advances and societies commonly held medical model.

Parents' responses to receiving sickle cell or cystic fibrosis carrier results for their child following newborn screening.

Universal newborn screening for sickle cell disorders and cystic fibrosis aims to enable the early identification and treatment of affected babies. Screening can also identify infants who are healthy carriers, with carrier results being the commonest outcome for parents and professionals to discuss in practice. However it is unclear what the effect will be on parents on being informed of their baby's carrier result. Semi-structured face-to-face interviews were conducted with a purposeful sample of 67 family members (49 mothers, 16 fathers, 2 grandparents) of 51 infants identified by universal newborn screening as carriers of cystic fibrosis (n=27) and sickle cell (n=24), across all health regions in England. Data were analysed by thematic analysis with subsequent respondent validation. Untoward anxiety or distress among parents appeared influenced by how results were conveyed, rather than the carrier result per se. Parents who had more prior awareness of carrier status or the possibility of a carrier result assimilated the information more readily. Being left in an information vacuum while awaiting results, or before seeing a professional, led some parents to fear that their child had a serious health condition. Parental distress and anxiety appeared mostly transient, subsiding with understanding of carrier status and communication with a professional. Parents regarded carrier results as valuable information and sought to share this with their families and to inform their children in the future. However parents needed greater support after communication of results in considering and accessing cascade testing, and negotiating further communication within their families.

Disparities in current and future childhood and newborn carrier identification.

International carrier testing guidelines discourage testing in childhood to preserve autonomous decision making and prevent detrimental psychosocial consequences. Despite the discouragement of autosomal recessive carrier testing during childhood, some sickle cell disease (SCD) or cystic fibrosis (CF) carriers are incidentally identified through UK and international newborn screening (NBS). This creates a scenario where parents may have knowledge of their newborn's, but not older child's carrier status. In addition, there is wide variation in the identification of CF and SCD carriers due to the screening technologies implemented by different NBS programs. The current and future availability of childhood testing are determined to some extent by the impact of testing on children and parents (whether this is beneficial or detrimental to wellbeing). However empirical research informing carrier guidance and practice is conflicting. Echoing previous calls, this discussion highlights the need for further qualitative and longitudinal research with children to consider the psychosocial impact of carrier testing on children and role of disclosure from parents on adaptation to results. It is recommended that professionals aim to minimize harms resulting from carrier identification by providing support for parents and children following NBS. Support for non-genetics specialists from genetic counselors to enable discussion of carrier results with children is suggested.

Informing children of their newborn screening carrier result for sickle cell or cystic fibrosis: qualitative study of parents' intentions, views and support needs.

Newborn screening for cystic fibrosis and sickle cell disease enables the early identification and treatment of affected children, prolonging and enhancing their quality of life. Screening, however, also identifies carriers. There are minimal or no health concerns for carriers. There are, however, potential implications when carriers reach reproductive age, and thus research attention has been given to how best to convey information about these implications in a meaningful, balanced way which does not raise undue anxieties. Most research focuses on the communication from health professional to parent, yet ultimately this information is of greatest significance to the child. This study examines parents' intentions to inform their child of newborn screening carrier results. Semi-structured interviews with 67 family members explored their intentions to inform the child, and related views and support needs. Parents almost unanimously indicated they planned to inform the child themselves. Health professionals were expected, however, to provide guidance on this process either to parents through advice and provision of written materials, or directly to the child. Although parents initially stated that they would convey the result once their child had developed the ability to understand the information, many appeared to focus on discrete life events linked to informed reproductive decision making. The results highlight ways in which health care providers may assist parents, including providing written material suitable for intergenerational communication and ensuring that cascade screening is accessible for those seeking it. Priorities for further research are identified in light of the results.

Young adults' pre-existing knowledge of cystic fibrosis and sickle cell diseases: implications for newborn screening.

Parental distress following newborn screening is thought to result from inadequate preparation for screening results which can result in maladjustment to screening results after birth. Although prior awareness of relevant genetic disorders such as cystic fibrosis and sickle cell diseases, and preparedness for screening is suggested to enhance information uptake and reduce parental distress, little is known about how young adults' prior knowledge prepares them for screening or affects the assimilation and retention of screening information. Thirty-four young adults, without familial genetic disease or screening experience took part in one of seven focus groups which examined knowledge of cystic fibrosis and sickle cell diseases and ability to assimilate new disease information. Thematic analysis revealed that adults had limited understanding of how cystic fibrosis and sickle cell diseases were inherited or how symptoms manifest, leaving them inadequately prepared for screening results if they do not engage with information interventions. Further, they selectively assimilated new disease information and had difficulty understanding new information in the absence of prior disease knowledge. Young adults' prior disease knowledge should be considered within a newborn screening context and written materials should consider the inclusion of carrier statistics to improve information relevance.