Addressing key issues in the consanguinity-related risk of autosomal recessive disorders in consanguineous communities: lessons from a qualitative study of British Pakistanis

Currently there is no consensus regarding services required to help families with consanguineous marriages manage their increased genetic reproductive risk. Genetic services for communities with a preference for consanguineous marriage in the UK remain patchy, often poor. Receiving two disparate explanations of the cause of recessive disorders (cousin marriage and recessive inheritance) leads to confusion among families. Further, the realisation that couples in non-consanguineous relationships have affected children leads to mistrust of professional advice. British Pakistani families at-risk for recessive disorders lack an understanding of recessive disorders and their inheritance. Such an understanding is empowering and can be shared within the extended family to enable informed choice. In a three-site qualitative study of British Pakistanis, we explored family and health professional perspectives on recessively inherited conditions. Our findings suggest, first, that family networks hold strong potential for cascading genetic information, making the adoption of a family centred approach an efficient strategy for this community. However, this is dependent on provision of high quality and timely information from health care providers. Secondly, families’ experience was of ill-coordinated and time-starved services, with few having access to specialist provision from Regional Genetics Services; these perspectives were consistent with health professionals’ views of services. Thirdly, we confirm previous findings that genetic information is difficult to communicate and comprehend, further complicated by the need to communicate the relationship between cousin marriage and recessive disorders. A communication tool we developed and piloted is described and offered as a useful resource for communicating complex genetic information

Access to and adequacy of psychological services for adult patients in UK hospices: a national, cross-sectional survey

Abstract Background Providing psychological support to people living with terminal illness is a fundamental part of hospice care. Recent research on delivery of psychological services in hospices in the United Kingdom (UK) on a national level, including inequalities or variation in practice, is limited. A nationwide survey will highlight any differences in provision and in doing so help focus future research and inform best practice both within the UK, and internationally. The specific objectives of this survey are to (1) chart the types of psychological support available to adult patients in hospices in the UK in line with the National Institute for Health and Care Excellence model; (2) explore how services are organised; and (3) gather service perspectives on adequacy of care, and facilitators and barriers to appropriate practice. Methods A cross-sectional online survey emailed to adult hospices in the UK in November–December 2019. One staff member involved in the delivery and/or organisation of psychological support was invited to participate per hospice. Of 193 invited hospices, 116 took part. Results Sixteen percent rated their hospice psychological service as wholly adequate. The majority reported that services can access specialist professionals, but many relied on external referrals. Barriers to best practice included funding and staff capacity; facilitators included clear referral structures, audit and appropriate needs and outcome assessments. Conclusions Access to psychological professionals has improved since the last survey 15 years ago, but the majority of responders felt their overall service was not wholly adequate. Basic emotional support is largely felt to be sufficient, but our results indicate a need for improvements in access to more specialist care. Partnerships with external mental health services may be key. Our findings highlight core facilitators and barriers to providing good psychological care at the end of life that should be considered by services both within the UK and on an international level. </jats:sec

'Worried to death': the assessment and management of anxiety in patients with advanced life-limiting disease, a national survey of palliative medicine physicians

Background: Anxiety adversely affects quality of life and is common in adults with advanced life-limiting disease. There are no UK-wide guidelines on the assessment and management of anxiety in this specific population and there is little evidence regarding drug treatments. This study aimed to explore how palliative care physicians assess and manage anxiety in their patients, and to identify barriers encountered. / Methods: A cross-sectional survey was undertaken of all physicians working in specialist palliative care in the UK who were members of the Association for Palliative Medicine. This was conducted in February 2014 using an online questionnaire. / Results: The response rate was 23% (230/980) and 61% of respondents were consultants. Most did not use tools to screen for anxiety (87%) and almost all used the clinical interview to diagnose anxiety (99%). Only 8% used psychiatric criteria. Most physicians reported difficulties managing anxiety (93%). Only 33% thought they had adequate training in this area. Most had difficulty accessing psychological and/or psychiatric services (71%, 64% respectively). The majority used a combination of pharmacological and non-pharmacological treatments for anxiety. The most frequently prescribed first-line medications for patients with a prognosis of days to weeks were benzodiazepines (93%), usually lorazepam. The use of benzodiazepines over antidepressants was statistically significant (p < 0.001). For patients with a prognosis of months, antidepressants were most frequently prescribed first-line (60%), significantly more than benzodiazepines (p < 0.001). However, benzodiazepine use was still common in this prognostic group with 47% prescribing it first-line, sometimes in combination with an antidepressant. / Conclusion: This is the first national survey on the assessment and management of anxiety in palliative care. Findings demonstrate the infrequent use of screening tools, variation in prescribing practice, potentially inappropriate use of benzodiazepines for patients with a prognosis of months, training gaps and poor access to psychological and psychiatric services in the UK. This highlights the need for formal training, further research into the pharmacological management of anxiety in this population and evidence-based national guidance to support clinical decision-making and service development