Optimizing lipid management-impact of the COVID 19 pandemic upon cardiovascular risk in England.

BACKGROUND: We sought to understand the impact of the COVID-19 pandemic on lipid-lowering therapy prescribing as a potential cause of the excess cardiovascular mortality seen post-pandemic in England. We examined temporal changes over 3 years in the prescribing of high-intensity and non-high-intensity statin therapy and ezetimibe. SOURCES OF DATA: We utilized data available via the National Health Service (NHS) Business Services Authority (NHSBSA) Information Services Data Warehouse, extracting 3 monthly data from October 2018 to December 2021 on high- and low-intensity statin and ezetimibe prescribing, (commencement, cessation or continuation) through each time period of study and those before, and after, the period of interest. AREAS OF AGREEMENT: Optimizing lipid management is a key component of the NHS Long Term Plan ambition to reduce deaths from cardiovascular disease, stroke and dementia. AREAS OF CONTROVERSY: The COVID-19 pandemic and associated lockdown have seen a significant reduction in prescribing of lipid-lowering therapies. If cardiovascular risk is not to worsen in the forthcoming years, urgent action is needed to ensure that the impact of the pandemic upon optimization of cholesterol and the historical undertreatment of cholesterol is reversed and improved. AREAS TIMELY FOR DEVELOPING RESEARCH: Prescription data available via NHSBSA can support our understanding of the implications of policy and behaviour and highlight the impact of guidelines in practise. GROWING POINTS: Understanding the impact of the COVID-19 pandemic upon cholesterol management and the opportunities for newer lipid-lowering therapies delivered using a population health approach have the potential to enhance lipid-lowering and improve cardiovascular mortality and morbidity and reduce health inequalities.

A family systems approach to genetic counseling: Development of narrative interventions.

To what extent are family systems approaches relevant in the genomics era? What difference does it make to remember the wider social context within which 'problems' associated with a genetic diagnosis reside? How does this influence the conversations we have with our patients? These questions will be considered in relation to systemic approaches to genetic counseling practice. Narrative therapy with an emphasis on people's strengths, wishes, and ways of resisting the effects of a problem may be a particularly useful framework for genetic counselors. Narrative practice views people as multi-storied and is concerned with the question of how we encourage people to tell their stories in ways that make them feel stronger. Increased uptake of genomic testing and the number of people seeking genetic counseling present opportunities to consider new ways of working, particularly around support following a new genetic diagnosis. One option is to realize the potential of group interventions. Family therapy and narrative practices have the potential to encourage communication and for families to learn from each other.

The family transition experience when living with childhood neuromuscular disease: A grounded theory study.

AIMS: Neuromuscular diseases are rare conditions that present with progressive muscular weakness. As affected children transition into adulthood, they become more physically dependent on their families for support. There is little evidence on the family transition experience, which this study explored to identify experiences, challenges, and strategies of coping. DESIGN: Informed by family systems theory, a constructivist grounded theory study was conducted (2014-2017). METHODS: Data were collected by one-on-one interviews with a purposive sample of affected Swiss individuals and their families from 2015 to 2016. Data analysis used coding, memo writing, theoretical sampling, and constant comparison techniques. RESULTS: The analysis of 31 interviews with 10 affected individuals and 21 family members resulted in an interpretive theory constituted of four categories: (a) living with physical dependence, while striving for independence; (b) balancing proximity; (c) conforming and challenging social standards and expectations; and (d) grieving for loss, while joining forces for life. CONCLUSION: Family functioning and well-being were threatened by recurring tension from stress, physical and emotional difficulties, strained relationships, and conflict. The families' strategies of coping and adaptation and their relationships and communication shaped their transition experience. IMPACT: Families that experience threats to their well-being and functioning would benefit from: needs assessment and monitoring; planning of appropriate family interventions; support of family relationships and communication, effective coping, and mastery; and positive adaptation to change.

"I remember how I felt, but I don't remember the gene": Families' experiences of cancer-related genetic testing in childhood.

BACKGROUND: Genetic testing in children for hereditary cancer predisposition syndromes (CPSs) involves unique psychosocial and family-systems considerations. This retrospective study explored the perspectives and emotional reactions of parents and young adults about cancer-related genetic counseling and testing offered to children in the family. METHODS: Families were eligible if they had considered genetic testing for a child (≤18 years) within the family. Parents and young adults ≥16 years participated in semistructured interviews that we coded and identified key themes. We also quantitively assessed emotional distress, quality of life, impact of receiving genetic cancer risk information, and service-related satisfaction. RESULTS: From 35 interviews (26 parents, nine young adults), we identified themes spanning families' experiences from referral to genetic services to the longer term impact of receiving information about family cancer risk from testing of children. Supported by quantitative data, families generally described positive experiences of genetic services and reported benefits to genetic testing. Nevertheless, families faced unique emotional and relational challenges that changed over the family lifecycle. Those challenges differed according to whether the child was asymptomatic or had a cancer diagnosis at testing. Parents of children with cancer described genetic consultations as a secondary concern to the immediate stressors of their child's treatment. CONCLUSIONS: We conclude that the successful integration of cancer genetics into pediatric cancer care requires specialist pediatric genetic counseling and psychosocial support services that are able to respond to families' changing needs.

The Process of Disclosure: Mothers' Experiences of Communicating X-Linked Carrier Risk Information to At-Risk Daughters.

When a boy is diagnosed with an X-linked condition such as Duchenne or Becker muscular dystrophy (D/BMD), the mother learns not only of her own potential carrier risk but also that of her daughters. Before the daughters are seen in the Genetics Clinic, responsibility for disclosing carrier risk information falls mainly to their mothers. We know little about if when and how these daughters are being told about their risk, and how mothers find the experience. Should we be doing more to help and support them? Using qualitative methods, six mothers known to the Manchester Centre for Genomic Medicine were interviewed about the disclosure of D/BMD carrier risk information to their daughters. The four key themes that arose are presented: communication process, facilitators of disclosure, barriers to disclosure and support and information. Despite the participants' endeavours to be open and honest with their daughters and their belief that they had fully disclosed, key information was often withheld. Major barriers to discussion of the future, including reproductive options, were apparent. These were partly overcome by the involvement of genetic counsellors (GCs). The participants suggested a greater involvement of GCs, proactively sending appointments and written information, and offering carrier testing more flexibly.

Communication of Information about Genetic Risks: Putting Families at the Center.

Genetic information is a family affair. With the expansion of genomic technologies, many new causal genes and variants have been established and the potential for molecular diagnoses increased, with implications not only for patients but also their relatives. The need for genetic counseling and intrafamilial circulation of information on genetic risks grew accordingly. Also, the amount and, particularly, the complexity of the information to convey multiplied. Sharing information about genetic risks with family members, however, has never been an easy matter and often becomes a source of personal and familial conflicts and distress. Ethical requisites generally prevent healthcare professionals from directly contacting their consultands' relatives (affected or still at risk), who often feel unsupported throughout that process. We discuss here the communication of genetic risks to family members. We first consider genomic testing as a basis for family-centered health care, as opposed to a predominant focus on the individual. We reviewed the literature on sharing genetic risk information with family members, and the associated ethical issues for professionals. Some clinical cases are presented and discussed, and key issues for meeting the needs of individuals and families are addressed. We argue that genetic information is inextricably linked to the family and that communicating about genetic risks is a process grounded within the broader milieu of family relationships and functioning. We conclude for the need for a more family-centered approach and interventions that can promote sensitive attitudes to the provision of genetic information to and within the family, as well as its inclusion in educational and training programmes for genetic healthcare professionals.

Sharing Genetic Risk Information: Implications for Family Nurses Across the Life Span.

Sharing genetic risk information in families can be very challenging. However, the consequences of poor communication can be detrimental to the psychological health and well-being of parents and children in the present and the long term. Family nursing can play an important role in supporting family communication about genetic conditions. This role has several components: Firstly, improved assessment of families affected by or at risk from inherited genetic conditions. Secondly, facilitation of families' discussions of genetic risk, especially between parents and children. Family nurses can use an integrated model of family care to support parents and their children in discussion of genetic risk information throughout the child's development, including provision of assistance specifically for young people, who want to discuss the issues they face with informed nurses. Thirdly there is a role for family nurses in educating other specialist nurses in taking a more family-focused approach when they are caring for patients affected by genetic conditions. If the full benefits of genomic technologies are to be recognized and implemented, it is essential that the relational impact of the science be strengthened to enhance family relationships and support genetic risk information sharing.

Avoidant conversations about death by clinicians cause delays in reporting of neutropenic sepsis: Grounded theory study.

BACKGROUND: Evidence suggests that patients delay reporting symptoms of neutropenic sepsis (NS) despite the risk to their life. This study aimed to elicit factors that contribute to delayed patient reporting of NS symptoms. METHODS: A constructivist grounded theory study used observations of chemotherapy consultations (13 h) and 31 in-depth interviews to explore beliefs, experiences, and behaviors related to NS. Participants included women with breast cancer, their carers (partners, family, or friends), and clinicians. An explanation for patient delays was developed through theoretical sampling of participants to explore emerging areas of interest and through constant comparison of data and their coding. This entailed iterative and concurrent data collection and analysis. Data were collected until saturation. RESULTS: All patients who developed NS-type symptoms delayed presenting to hospital (2.5 h-8 days), sometimes repeatedly. Moderators of delay included metastatic disease, bereavement, fatalism, religious beliefs, and quality of relationships with clinicians. There was an interplay of behaviors between clinicians, patients, and carers where they subconsciously conspired to underplay the seriousness and possibility of NS occurring. CONCLUSIONS: Findings have implications for health risk communication and development of holistic service models.

Training Genetic Counsellors to Deliver an Innovative Therapeutic Intervention: their Views and Experience of Facilitating Multi-Family Discussion Groups.

Innovations in clinical genetics have increased diagnosis, treatment and prognosis of inherited genetic conditions (IGCs). This has led to an increased number of families seeking genetic testing and / or genetic counselling and increased the clinical load for genetic counsellors (GCs). Keeping pace with biomedical discoveries, interventions are required to support families to understand, communicate and cope with their Inherited Genetic Condition. The Socio-Psychological Research in Genomics (SPRinG) collaborative have developed a new intervention, based on multi-family discussion groups (MFDGs), to support families affected by IGCs and train GCs in its delivery. A potential challenge to implementing the intervention was whether GCs were willing and able to undergo the training to deliver the MFDG. In analysing three multi-perspective interviews with GCs, this paper evaluates the training received. Findings suggests that MFDGs are a potential valuable resource in supporting families to communicate genetic risk information and can enhance family function and emotional well-being. Furthermore, we demonstrate that it is feasible to train GCs in the delivery of the intervention and that it has the potential to be integrated into clinical practice. Its longer term implementation into routine clinical practice however relies on changes in both organisation of clinical genetics services and genetic counsellors' professional development.

Parents' Experiences of Receiving the Initial Positive Newborn Screening (NBS) Result for Cystic Fibrosis and Sickle Cell Disease.

The clinical advantages of the newborn screening programme (NBS) in the UK are well described in the literature. However, there has been little exploration of the psychosocial impact on the family. This study followed the principles of grounded theory to explore parents' experiences of receiving the initial positive NBS result for their child with cystic fibrosis (CF) or sickle cell disease (SCD). Semi-structured, qualitative interviews were conducted with 22 parents (12 mothers and 10 fathers) whose children had been diagnosed with CF or SCD via NBS and were under the age of 1 year at the time of interview. The main themes that arose from the data were; parents previous knowledge of the condition and the NBS programme, the method of delivery and parental reactions to the result, sharing the results with others, the impact on parental relationships and support strategies. Study conclusions indicate that most parents thought initial positive NBS results should be delivered by a health professional with condition specific knowledge, preferably with both parents present. Genetic counselling needs to include a focus on the impact of NBS results on parental relationships. Careful consideration needs to be given to strategies to support parents of babies who have positive NBS results both in terms of the psychological health and to assist them in sharing the diagnosis.

A systematic review of men's experiences of their partner's mastectomy: coping with altered bodies.

OBJECTIVE: To explore men's experiences of their partner's altered physique and body image as a result of mastectomy and subsequent reconstructive surgeries. DESIGN: A systematic review of qualitative and mixed-methods studies. DATA SOURCES: Ovid, EBSCOhost, Web of Science, SCOPUS and ASSIA ProQuest databases were searched using 1) truncations of breast cancer, hereditary breast cancer and BRCA 2) words relating to partner relationships; spouse, husband, partner, men and couple 3) breast cancer surgeries; mastectomy, prophylactic mastectomy and breast reconstruction and 4) body image. REVIEW METHOD: Methodological rigour was quality assessed. RESULTS: A total of 756 citations were retrieved. Seventeen articles remained following the removal of duplicates, papers unrelated to breast cancer, male breast cancer, papers that excluded men's experiences of their partner's breast cancer and altered body image. Thematic analysis was applied and produced five themes: experiences of the altered body, communication, impact on relationship, information giving and recommendations. CONCLUSION: Men indicated that perceptions of their partner's altered physique and body image, following mastectomy, was secondary to their health. Some men were distressed by their partner's bodily alterations leading to highly complex and emotive coping mechanisms. Men found talking to their partner about physique and body image challenging. Closed communication, however, often led to conflict and poor psychological well-being in both partners. To help prepare for the changes to their partner's body, men desired tailored information. Effective information giving contributes to effective coping strategies helping men to better support their partner affected or at risk from breast cancer, leading to enhanced psychological and emotional well-being in couples.

Factors influencing recruitment to research: qualitative study of the experiences and perceptions of research teams.

BACKGROUND: Recruiting the required number of participants is vital to the success of clinical research and yet many studies fail to achieve their expected recruitment rate. Increasing research participation is a key agenda within the NHS and elsewhere, but the optimal methods of improving recruitment to clinical research remain elusive. The aim of this study was to identify the factors that researchers perceive as influential in the recruitment of participants to clinically focused research. METHODS: Semi-structured interviews were conducted with 11 individuals from three clinical research teams based in London. Sampling was a combination of convenience and purposive. The interviews were audio recorded, transcribed verbatim and analysed using the framework method to identify key themes. RESULTS: Four themes were identified as influential to recruitment: infrastructure, nature of the research, recruiter characteristics and participant characteristics. The main reason individuals participate in clinical research was believed to be altruism, while logistical issues were considered important for those who declined. Suggestions to improve recruitment included reducing participant burden, providing support for individuals who do not speak English, and forming collaborations with primary care to improve the identification of, and access to, potentially eligible participants. CONCLUSIONS: Recruiting the target number of research participants was perceived as difficult, especially for clinical trials. New and diverse strategies to ensure that all potentially eligible patients are invited to participate may be beneficial and require further exploration in different settings. Establishing integrated clinical and academic teams with shared responsibilities for recruitment may also facilitate this process. Language barriers and long journey times were considered negative influences to recruitment; although more prominent, these issues are not unique to London and are likely to be important influences in other locations.

Randomised controlled trials: an introduction for nurse researchers.

AIM: To present an overview of the main components of randomised controlled trials and identify issues for consideration during their design and management. BACKGROUND: Randomised controlled trials (RCTs) are considered to be the gold standard for determining causality and can provide high quality evidence to inform nursing practice. DATA SOURCES: A search of online databases and websites was undertaken to identify relevant contemporary literature to inform the discussion. DISCUSSION/CONCLUSION: Conducting a robust randomised controlled trial can present researchers with numerous challenges and practical considerations. The importance of taking account of the Consort guidelines during their design, conduct and reporting is emphasised. IMPLICATIONS FOR RESEARCH/PRACTICE: Evidence from well conducted RCTs contributes to the development of effective nursing interventions. To avoid bias and ensure valid results, the design, conduct and reporting of RCTs should follow the Consort guidelines. Service users should be involved in the design and management of RCTs.

The role of support groups in facilitating families in coping with a genetic condition and in discussion of genetic risk information.

BACKGROUND: Giving children and young people information about genetic conditions and associated risk has been shown to be important to their identity, coping and decision making. Parents, however, find talking to their children difficult, and support from health professionals is often not available to them. OBJECTIVE: To explore the role of support groups in family coping, and in assisting parents' communication about risk with children in families affected by an inherited genetic condition. METHODS: Semi-structured interviews analysed using grounded theory and informed by models focusing on aspects of family communication. PARTICIPANTS: Affected and unaffected children and their parents, from families affected by one of six genetic conditions, that represent different patterns of inheritance, and variations in age of onset, life expectancy and impact on families. RESULTS: Parents often sought support they did not receive elsewhere from support groups. They identified benefits, but also potential disadvantages to this involvement. These related to the specific condition and also whether groups were run solely by parents or had professional input. Support groups rarely helped directly with family communication, but attendance often stimulated family discussion, and they provided information that improved parents' confidence in discussing the condition. CONCLUSIONS: Support groups should be seen only as additional to the support offered by health and social care professionals. An increased understanding of the role of support groups in assisting families with genetic conditions has been highlighted, but further work is needed to explore more fully how this may be made more sustainable and far-reaching.

Co-designing models for the communication of genomic results for rare diseases: a comparative study in the Czech Republic and the United Kingdom.

The communication of genomic results to patients and families with rare diseases raise distinctive challenges. However, there is little evidence about optimal methods to communicate results to this group of service users. To address this gap, we worked with rare disease families and health professionals from two genetic/genomic services, one in the United Kingdom and one in the Czech Republic, to co-design that best meet their needs. Using the participatory methodology of Experience-Based Co-Design (EBCD), we conducted observations of clinical appointments (n=49) and interviews with family participants (n=23) and health professionals (n=22) to gather their experience of sharing/receiving results. The findings informed a facilitated co-design process, comprising 3 feedback events at each site and a series of meetings and remote consultations. Participants identified a total of four areas of current service models in need of improvement, and co-designed six prototypes of quality improvement interventions. The main finding was the identification of post-test care as the shared priority for improvement for both health professionals and families at the two sites. Our findings indicate the need to strengthen the link between diagnostics (whether or not a pathogenic variant is found) and post-test care, including psychosocial and community support. This raises implications for the reconfigurations of genomic service models, the redefinition of professional roles and responsibilities and the involvement of rare disease patients and families in health care research.

Caring for families with a family history of cancer: why concerns about genetic predisposition are missing from the palliative agenda.

Care of the family is integral to palliative care, but little attention has been paid to the way nurses, or other healthcare professionals, are responding to the needs of families who are concerned about whether their family history of cancer is associated with an inherited genetic predisposition. This paper discusses how palliative care nurses perceive the care needs of patients with a family history of cancer. Data were collected through recorded, semi-structured interviews with 10 nurses who had worked in specialist palliative care. The findings show that there are cogent arguments and concerns about raising the issue of an inherited genetic predisposition at the end of life (especially when the patient is close to death and there is a lack of knowledge about genetics). Nevertheless, exemplar cases are used to illustrate the reasons why it is important that nurses working in specialist palliative care settings are aware of the needs of this patient group. The paper highlights that nurses not only need an appropriate knowledge base but also an insight of what can be achieved when supporting patients with a family history of cancer.

Parents' communication with siblings of children affected by an inherited genetic condition.

The objective of this study was to explore parents' communication about risk with siblings of children affected by an inherited genetic condition, and to ascertain what level of support, if any, is required from health professionals. Semi-structured interviews were conducted with affected and unaffected children and their parents. Families were affected by one of six genetic conditions representing different patterns of inheritance and variations in age of onset, life expectancy and impact on families. Interviews were analysed using constructivist grounded theory and informed by models which focused on three different aspects of family communication. Interviews with 33 families showed that siblings' information and support needs go largely unrecognized by health professionals and sometimes by parents. Some siblings were actively informed about the genetic condition by parents, others were left to find out and assimilate information by themselves. Siblings were given information about the current symptoms and management of the genetic condition but were less likely to know about its hereditary nature and their own potential risk. When siblings were fully informed about the condition and included in family discussion, they had a better understanding of their role within their family, and family relationships were reported to be more harmonious. The information and support needs of siblings can be overlooked. Parents with the responsibility for caring for a child affected by a genetic condition may require support from health professionals to understand and respond to their unaffected children's need for more information about the genetic condition and its implications for the children's own future health and reproductive decision-making.

Family communication about genetic risk information: particular issues for Duchenne muscular dystrophy.

Open family communication about genetic conditions and associated risk is important to children's identity, coping and decision making. Parents however find talking to their children difficult and because of associated care needs and emotional reactions it can be particularly stressful in families affected by Duchenne muscular dystrophy (DMD). This article reports on the findings of a group of families affected by DMD who formed part of a larger study where adult and child members of 33 families affected by one of six genetic conditions were interviewed. Parents thought they should talk to children about a genetic condition in their family and children wanted information and open discussion. In families affected by DMD clear gender differences were identified between mothers and fathers in coping and in their roles in relation to the condition. There was a particularly close bond between mothers and affected sons. For most conditions, mothers were central to giving children information but the identified issues made this problematic in families with DMD. This resulted in affected children receiving little information about their condition at all and female siblings being unlikely to receive information about their potential carrier status until they were about 16-year old. Insight into family communication within families affected by DMD assists healthcare professionals in recognizing and meeting the particular support needs of this group of families.

Hospice nurses and genetics: implications for end-of-life care.

AIM: The overall aim of this study is to determine hospice nurses' perception of the importance of genetics to hospice care provision and their personal level of confidence in carrying out genetics-related activities within an end-of-life care context. BACKGROUND: Hospices nurses regularly care for patients and their families affected by inherited genetic conditions (e.g. some cancers). Therefore, nurses need knowledge and awareness of the implications of genetic conditions and confidence in their abilities to provide appropriate care and support for patients and families. DESIGN: Survey. METHOD: Questionnaires were sent to a stratified sample of hospice nurses (n = 1149) in England and Wales. Using Likert scales, nurses were asked to rate the importance of and their confidence in undertaking a range of scenario-based activities that accompany caring for a patient and family affected by a genetic condition in the hospice setting. Open questions invited comments on their experiences of nursing patient/family in similar situations. Follow-up telephone interviews were carried out with hospice nurse educators to explore emerging issues. RESULTS: Response rate was 29% (n = 328). Hospice nurses felt that all aspects of genetics-related care were 'very important' to hospice care, but lacked confidence in their ability to carry out the activities. Many respondents had not considered the relevance of genetics to hospice-care prior to completing the questionnaire but now considered it essential to end-of-life care even if they were not confident to provide it. CONCLUSION: Hospice nurses' need genetics education focusing on the psychosocial implications of caring for patients and families affected by genetic conditions to enable them to provide the complex care and support in face of the difficult issues that arise in practice. RELEVANCE TO CLINICAL PRACTICE: This study highlights the genetics education needs of hospice nurses in providing end-of life care for patients and their families affected by inherited genetic conditions.

Redefining the role of the nurse academic in practice: A pilot study.

Worldwide, health services are interested in supporting the speedy adoption of research findings into practice. To promote the translation of research into practice, a university in the South of England along with a partner NHS Trust piloted a new role - Translation Fellow (TF). This article describes and analyses the experience of implementing this role. It outlines the successes achieved as a result of this partnership between a university and a healthcare organisation as well as describing the challenges involved in establishing such a role. The successes included submitting a joint abstract to a conference; collaboratively developing articles for publication; organizing a visit overseas to compare similar services; co-designing a database to assist in collecting data for service planning and research, and setting up a 'one click access' web space populated with evidence informed material to support the work of the clinical staff. The pilot acted as a proof of concept in which the TF role demonstrated its potential. Additional roles are already being established in other services in the locality and the role merits wider discussion and testing nationally.