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.

Comparative studies of the diagnosis and treatment of cerebral cavernous malformations in adults: systematic review.

BACKGROUND: Cerebral cavernous malformation (CCM) management decisions are usually made after CCM diagnosis is suspected or definitively diagnosed on axial imaging by indirectly comparing a surgeon's estimate of operative morbidity and mortality against published estimates of CCM untreated clinical course. METHODS: We used comprehensive electronic strategies to search OVID Medline and EMBASE for original studies published before 2011 of ≥20 adults with CCM that (a) evaluated diagnostic test accuracy, or (b) compared treatment with microsurgery or stereotactic radiosurgery against conservative management in a concurrent or historical control group and reported clinical outcome(s). We used the Grading of Recommendations Assessment, Development and Evaluation (GRADE) Working Group's approach to identify level 1 or level 2 studies according to the Oxford Centre for Evidence-Based Medicine's 2011 criteria. RESULTS: We found one eligible diagnostic test accuracy study of 72 patients with brain masses accompanied by vasogenic edema and substantial amounts of blood, which found that hyperintense perilesional signal on T1-weighted magnetic resonance imaging could differentiate CCM from other causes with excellent specificity (98 %) and reasonable sensitivity (62 %). We found five potentially eligible observational studies of adults with a CCM that had already bled, but none met level 2 criteria for a "dramatic" effect (the conventionally calculated probability of the two groups of observations coming from the same population should be less than 0.01 and a rate ratio greater than 10). We found 11 potentially eligible observational studies of adults with CCM and epilepsy, but nine studies did not demonstrate dramatic effects and the remaining two studies showed dramatic effects, but they were at high risk of bias. CONCLUSIONS: To address the absence of level 1 or 2 evidence to support CCM treatment decisions, there is a need for large studies of CCM treatment with a concurrent control group, ideally with randomized treatment allocation.

Storytellers as partners in developing a genetics education resource for health professionals.

Advances in genetics are bringing unprecedented opportunities for understanding health and disease, developing new therapies and changes in healthcare practice. Many nurses and midwives lack competence and confidence in integrating genetics into professional practice. One approach to enhance understanding of genetics is to simulate clinical exposure through storytelling. Stories are acknowledged as a powerful learning tool, being understandable and memorable, stimulating critical thinking, and linking theory to practice. Telling Stories, Understanding Real Life Genetics is a freely accessible website that sets people's stories within an education framework. The links between the stories and professional practice are made explicit and additional features support learning and teaching. Care of the storytellers within an ethical framework is of paramount importance. Storytellers are viewed as partners in the project. The challenges encountered include preserving the authentic voice and dignity of the storyteller. Project team members have also experienced 'professional shame' when negative experiences have been recounted, and the stories have had an impact on the team. The experience of working with storytellers has been positive. The storytellers want to be heard so that others will benefit from their stories. They serve as a reminder of why this work is important.