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.

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.

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.

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.

International consensus statement on the diagnosis and management of autosomal dominant polycystic kidney disease in children and young people.

These recommendations were systematically developed on behalf of the Network for Early Onset Cystic Kidney Disease (NEOCYST) by an international group of experts in autosomal dominant polycystic kidney disease (ADPKD) from paediatric and adult nephrology, human genetics, paediatric radiology and ethics specialties together with patient representatives. They have been endorsed by the International Pediatric Nephrology Association (IPNA) and the European Society of Paediatric Nephrology (ESPN). For asymptomatic minors at risk of ADPKD, ongoing surveillance (repeated screening for treatable disease manifestations without diagnostic testing) or immediate diagnostic screening are equally valid clinical approaches. Ultrasonography is the current radiological method of choice for screening. Sonographic detection of one or more cysts in an at-risk child is highly suggestive of ADPKD, but a negative scan cannot rule out ADPKD in childhood. Genetic testing is recommended for infants with very-early-onset symptomatic disease and for children with a negative family history and progressive disease. Children with a positive family history and either confirmed or unknown disease status should be monitored for hypertension (preferably by ambulatory blood pressure monitoring) and albuminuria. Currently, vasopressin antagonists should not be offered routinely but off-label use can be considered in selected children. No consensus was reached on the use of statins, but mTOR inhibitors and somatostatin analogues are not recommended. Children with ADPKD should be strongly encouraged to achieve the low dietary salt intake that is recommended for all children.

"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.

Black and Minority Ethnic women's decision-making for risk reduction strategies after BRCA testing: Use of context and knowledge.

Within the field of breast cancer care, women concerned about their family history are offered genetic testing and subsequent treatment options based on several factors which include but are not limited to personal and family cancer disease histories and clinical guidelines. Discussions around decision-making in genetics in Black and Minority Ethnic (BME) groups are rarely documented in literature, and information regarding interactions with genetics services is usually discussed and linked to lack of scientific knowledge. As such, counselling sessions based only on scientific and medical information miss out the many reasons participants consider in making health decisions, information which can be used to encourage BME women to engage in cancer genetics services. 10 BME women with a mixed personal and family history of breast and ovarian cancer backgrounds, were interviewed in a study exploring issues of knowledge about familial breast cancer syndromes, to understand how they created and used familial knowledge for health decisions, with a particular focus on attitudes towards risk reducing strategies. Study results show that our participants are not unique in the ways they make decisions towards the use of cancer genetics and risk reduction strategies and as such, there are no specific ethnically defined pathways for decision-making. Our participants demonstrated mixed biomedical, social and individual cultural reasons for their decision-making towards risk reduction surgeries and treatment options which are similar to women from different ethnicities and are individual rather than group-specific. Narratives about suspicion of scientific utility of genetic knowledge, the perceived predictive value of mutations for future cancers or the origin of mutations and family disease patterns feature heavily in how participants evaluated genetic information and treatment decisions. The diversity of results shows that our participants are interested in engaging with genetic information but use multiple sources for evaluating the extent of involvement in genetic services and the place of genetic information and treatment options for themselves and their families. Genetic information is considered within various bio-social scenarios before decision-making for risk reduction is undertaken. BME women are shown to undertake evaluative processes which clinicians are encouraged to explore for better patient support. Continuing to focus on links between superficial and un-representative meanings of ethnicity, ethnic identity and attitudes and behaviours by only searching for differences between ethnic groups, are unhelpful in further understanding how women from those diverse backgrounds make decisions towards risk reduction interventions. Future research must find ways of investigating and understanding populations in ways that are not focussed solely on ethnic differences but on how meaning is created out of social circumstances and experiences.

The state of bereavement support in adult intensive care: A systematic review and narrative synthesis.

PURPOSE: Despite advances in medical science, patient death and family bereavement are commonly encountered in adult intensive care units (ICUs). This is the first review to investigate the state of ICU bereavement support globally, and the availability and effectiveness of bereavement support interventions. METHODS: A systematic review and narrative synthesis. Medline, CINAHL Plus, PsycINFO, Web of Science, EMBASE were searched and inclusion/exclusion criteria were applied. Included studies were appraised using relevant appraisal tools. RESULTS: Fourteen papers formed the review; five of which were international surveys reporting variable bereavement practices and levels of support. A lack of training and resources were identified barriers. Nine papers reported the effectiveness of primarily discrete bereavement support interventions including: a personal memento, a handwritten condolence letter, a post-death meeting; storytelling, research participation, use of an ICU diary. One study evaluated a bereavement follow-up program. Generally, all identified interventions were well accepted by bereaved families. CONCLUSIONS: The reviewed evidence was weak, and findings were contextually bound. As such, it is difficult to make recommendations for the most acceptable and effective bereavement support intervention(s). Bereavement support in ICU needs further exploration and clinicians must be adequately trained and supported for the delivery of evidence-informed, culturally competent care.

"The power of Twitter": Using social media at a conference with nursing students.

The potential impact of social media use in nursing education, continuing professional development, and nurses' advocacy is unfolding at a rapid pace. Nurse educators are uniquely placed to incorporate the use of social media to enhance students' learning experiences and support students to develop competency in the use of social media for patient benefit. This paper outlines a novel way in which professional education on social media use was integrated into an undergraduate nursing programme. Digital professionalism was cultivated together with collaborative active learning. Students connected using the Twitter hashtag #kclciat18 registered for the 'Connecting it all Together 2017' conference held at the Florence Nightingale Faculty of Nursing, Midwifery & Palliative Care, King's College London. Students were invited to participate in an education session on social media, and live activities using Twitter. The conference provided students with a forum to learn about Twitter and practice using Twitter in a professional capacity. Utilising the healthcare conference hashtag repository, Symplur, quantitative and qualitative measures were accessible indicating the reach and extent of connectivity. A combination of qualitative and quantitative outcome measures will help student nurses appreciate the power of Twitter for patient benefit.

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.

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.

Cancer-Related Genetic Testing and Personalized Medicine for Adolescents: A Narrative Review of Impact and Understanding.

Genetic testing is becoming increasingly available for adolescents who are undergoing cancer treatment or at risk of cancer predisposition syndromes. With this narrative review, we aimed to synthesize the evidence on psychosocial outcomes and adolescents' understanding of genetic testing-thus far, an underresearched topic. Both psychological benefits and harms of predictive testing were reported in adolescents from high-risk families. Harms were mainly related to cancer-specific distress and increased worries. Findings on genetic understanding were sparse. Future studies should focus on psychosocial outcomes and adolescents' understanding undergoing genetic testing and enabling access to genetic counseling pre-testing and post-testing.

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.

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.

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.

Preparing young people for future decision-making about cancer risk in families affected or at risk from hereditary breast cancer: A qualitative interview study.

PURPOSE: Women carrying the mutated BRCA gene, have approximately an 80% life-time risk of developing breast cancer with 50% risk of their children inheriting the gene mutation. Many parents find it difficult to know when and how to disclose this information to their children and how such disclosure might affect their child's future decision-making. METHOD: This study explored the communication of genetic risk information in families using qualitative semi-structured interviews conducted with parents, children (7-11years) and young people (12-18years) affected or at risk from a BRCA gene mutation. Thematic analysis was applied to coded transcripts producing four themes; family communication, perception of cancer risks, risk management strategies and impact of genetic risk communication in children and young people's decision making. RESULTS: Twenty-seven individuals from 11 families took part, recruited through purposive sampling techniques. Cancer risk caused by a BRCA gene mutation induced a sense of fear in parents about their children's future. As a result, parents with hereditary breast cancer disclosed limited information about the risks associated with prophylactic surgery and/or the psychological and emotional impacts of surgery on body image. This had implications to children and young people's perceptions of prophylactic procedures, which were already influenced by cultural understandings of the 'desirable body' and increasing acceptance and proliferation cosmetic surgery. CONCLUSION: Lack of risk management information and the acculturation of cosmetic surgery combined to limit children and young people's understanding of the impact of hereditary breast cancer; reducing their ability to actualise the physiological, psychological and emotional consequences of surgery.

Living a normal life in an extraordinary way: A systematic review investigating experiences of families of young people's transition into adulthood when affected by a genetic and chronic childhood condition.

INTRODUCTION: The transition into adulthood is a developmental stage within the life cycle. A chronic childhood condition can disrupt this transition and create major challenges for both the young person and his or her family. Little is known about families' experiences when living with a rare genetic disease. Therefore, the purpose of this literature review was to understand experiences of families living with a chronic childhood disease during transition into adulthood by integrating evidence. METHOD: A systematic review using an integrative approach to data inclusion and analysis comprising qualitative, quantitative and other methodological studies about a range of genetic and chronic childhood diseases was undertaken to identify relevant information. Databases searched were PubMed, Cochrane Library, PsychINFO, CINAHL, and AMED, using the search terms (1) family, caregivers, young adult, adolescent; (2) adolescent development, transitional programs, transition to adult care; (3) muscular dystrophy, spinal muscular atrophy, cystic fibrosis, haemophilia and sickle cell disease. Study findings were critically appraised and analyzed using critical interpretive synthesis. RESULTS: A total of 8116 citations were retrieved. 33 studies remained following the removal of duplicates, papers unrelated to genetic childhood conditions and families' experiences of the transition into adulthood. Findings provided three perspectives: (1) the young person's perspective on how to "live a normal life in an extraordinary way" and "manage a chronic and life threatening disease"; (2) the parent perspective on the "complexity of being a parent of a chronically ill child" and "concerns about the child's future" and (3) the sibling perspective on "concerns about the siblings future". As a consequence of the genetic childhood condition, during the ill family members' transition into adulthood all family members were at risk for psychosocial difficulties as they mutually influenced each other. Previous research focused predominately on the individual illness experience, and less emphasis was put on the family perspective. CONCLUSIONS: Young people and their family members experienced multiple challenges and not only for the ill individual but also there were consequences and health risks for the whole family system. Therefore, a family systems perspective to research and care is indicated to assist affected families to cope with their complex life and health situation.

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.