Erratum: EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies

Haemoglobinopathies constitute the commonest recessive monogenic disorders worldwide, and the treatment of affected individuals presents a substantial global disease burden. Carrier identification and prenatal diagnosis represent valuable procedures that identify couples at risk for having affected children, so that they can be offered options to have healthy offspring. Molecular diagnosis facilitates prenatal diagnosis and definitive diagnosis of carriers and patients (especially ‘atypical’ cases who often have complex genotype interactions). However, the haemoglobin disorders are unique among all genetic diseases in that identification of carriers is preferable by haematological (biochemical) tests rather than DNA analysis. These Best Practice guidelines offer an overview of recommended strategies and methods for carrier identification and prenatal diagnosis of haemoglobinopathies, and emphasize the importance of appropriately applying and interpreting haematological tests in supporting the optimum application and evaluation of globin gene DNA analysis

The challenge of managing mild to moderate distress in patients with end stage renal disease: results from a multi-centre, mixed methods research study and the implications for renal service organisation.

BACKGROUND Lower-level emotional and psychological difficulties ('distress') in patients with end stage renal disease (ESRD), can lead to reduced quality of life and poor clinical outcomes. National guidelines mandate provision of emotional and psychological support for renal patients yet little is known about the support that patients may require, or the challenges that staff experience in identifying and responding to patient distress. METHODS Mixed methods study in renal units at four NHS Trusts in the West Midlands, UK involving cross-sectional surveys of ESRD patients and renal unit staff and semi-structured interviews with 46 purposively-sampled patients and 31 renal unit staff. Interviews explored patients' experience of distress and personal coping strategies, staff attitudes towards patient distress and perceptions of their role, responsibility and capacity. RESULTS Patient distress was widespread (346/1040; 33.3%), and emotional problems were frequently reported. Younger patients, females, those from black and minority ethnic (BME) groups and patients recently initiating dialysis reported particular support needs. Staff recognised the value of supporting distressed patients, yet support often depended on individual staff members' skills and personal approach. Staff reported difficulties with onward referral to formal counselling and psychology services and a lack of immediate access to less formalised options. There was also a substantial training/skills gap whereby many staff reported lacking the confidence to recognise and respond to patient distress. Staff fell broadly into three groups: 'Enthusiasts' who considered identifying and responding to patient distress as integral to their role; 'Equivocators' who thought that managing distress was part of their role, but who lacked skills and confidence to do this effectively, and 'Avoiders' who did not see managing distress as part of their role and actively avoided the issue with patients. CONCLUSIONS Embedding the value of emotional support provision into renal unit culture is the key to 'normalising' discussions about distress. Immediately accessible, informal support options should be available, and all renal staff should be offered training to proactively identify and reactively manage patient distress. Emotional support for staff is important to ensure that a greater emphasis on managing patient distress is not associated with an increased incidence of staff burnout