The ENGAGE study: a 3-arm randomized hybrid type 1 effectiveness and implementation study of an in-home, collaborative PCP model of remote telegenetic services to increase uptake of cancer genetic services in childhood cancer survivors.

BACKGROUND: Germline cancer genetic testing has become a standard evidence-based practice, with established risk reduction and screening guidelines for genetic carriers. Access to genetic services is limited in many places, which leaves many genetic carriers unidentified and at risk for late diagnosis of cancers and poor outcomes. This poses a problem for childhood cancer survivors, as this is a population with an increased risk for subsequent malignant neoplasms (SMN) due to cancer therapy or inherited cancer predisposition. The ENGaging and Activating cancer survivors in Genetic services (ENGAGE) study evaluates the effectiveness of an in-home, collaborative PCP model of remote telegenetic services to increase uptake of cancer genetic testing in childhood cancer survivors compared to usual care options for genetic testing. METHODS: The ENGAGE study is a 3-arm randomized hybrid type 1 effectiveness and implementation study within the Childhood Cancer Survivor Study population which tests a clinical intervention while gathering information on its delivery during the effectiveness trial and its potential for future implementation among 360 participants. Participants are randomized into three arms. Those randomized to Arm A receive genetic services via videoconferencing, those in Arm B receive these services by phone, and those randomized to Arm C will receive usual care services. DISCUSSION: With many barriers to accessing genetic services, innovative delivery models are needed to address this gap and increase uptake of genetic services. The ENGAGE study evaluates the effectiveness of an adapted model of remote delivery of genetic services to increase the uptake of recommended genetic testing in childhood cancer survivors. This study assesses the uptake in remote genetic services and identify barriers to uptake to inform future recommendations and a theoretically-informed process evaluation which can inform modifications to enhance dissemination beyond this study population and to realize the benefits of precision medicine. TRIAL REGISTRATION: This protocol was registered at clinicaltrials.gov (NCT04455698) on July 2, 2020.

Supporting safe swallowing of care home residents with dysphagia: How does the care delivered compare with guidance from speech and language therapists?

INTRODUCTION: Dysphagia affects up to 70% of care home residents, increasing morbidity and hospital admissions. Speech and language therapists make recommendations to support safe nutrition but have limited capacity to offer ongoing guidance. This study aimed to understand if recommendations made to support safe and effective care are implemented and how these relate to the actual care delivered. METHODS: Eleven mealtimes with residents with dysphagia were observed during 2020 using a tool capturing 12 elements of expected practice. Staff actions during mealtimes were compared with adherence to residents' care plans and speech and language therapist recommendations. RESULTS: Written recommendations predominantly focused on food and fluid modification. Observations (n = 66) revealed food texture, posture, and alertness were adhered to on 90% of occasions, but alternating food and drink, prompting and ensuring swallow completed adherence was less than 60%. Thickened fluids frequently did not align with required International Dysphagia Diet Standardisation Initiative levels. Nutrition care provided in the dining room was less safe due to a lack of designated supervision. CONCLUSION: Care homes need to be supported to establish a safe swallowing culture to improve residents' safety and care experience. WHAT THIS PAPER ADDS: What is already known on this subject? Dysphagia is associated with considerable morbidity and mortality and has been identified as an independent risk factor for mortality in nursing home residents. There is evidence that compensatory swallowing strategies, safe feeding advice and dietary modifications can reduce the risk of aspiration pneumonia. Care for nursing home residents at mealtimes is often task-centred and delegated to those with limited training and who lack knowledge of useful strategies to support the nutrition and hydration needs of residents with dysphagia. What this study adds? Written advice from speech and language therapists on safe nutrition and hydration for residents with dysphagia is focused mainly on food and fluid modification. Nurses and healthcare assistants have limited understanding of International Dysphagia Diet Standardisation Initiative levels or safe swallowing strategies and recommended practices to support safe nutrition care for residents with dysphagia are inconsistently applied especially when residents are eating in dining areas. Care homes are not aware of Royal College of Speech and Language Therapists guidance on how safe nutrition care of residents with dysphagia should be supported. What are the clinical implications of this work? Care homes need to prioritise a safe swallowing culture that ensures that residents with swallowing difficulties are assisted to eat and drink in a way that enhances their mealtime experience and minimises adverse events that may result in hospital admission. Speech and language therapists could play an important role in training and supporting care home staff to understand and use safe swallowing strategies with residents with dysphagia. The Royal College of Speech and Language Therapists could provide more assistance to care homes to support and guide them in how to implement safe feeding routines. Care home staff have limited knowledge about how to implement safe feeding routines and need more guidance from speech and language specialists on how they can support residents with dysphagia to eat safely. Creating a safe swallowing culture within care homes could help to improve nutrition care and enhance patient safety.

UK Vessel Health and Preservation Framework 2020: a users' survey.

The review and update of the UK Vessel Health and Preservation Framework 2020 (VHP2020) was undertaken by a working group that included members of the Infection Prevention Society, the Royal College of Nursing, the National Infusion and Vascular Access Society and the Medusa Advisory Board and was launched in 2020. The VHP working group developed a survey to understand whether the VHP2020 had reached its intended audience, and what respondents thought were the benefits and drawbacks of its use in practice. Although the survey response was lower than expected, the responses received were largely positive and have provided feedback on how the VHP2020 is being used and some of the benefits. Most importantly, the survey has highlighted the need to communicate the benefits of the framework more effectively to reach a wider audience.

Facilitating return of actionable genetic research results from a biobank repository: Participant uptake and utilization of digital interventions.

Research participants report interest in receiving genetic research results. How best to return results remains unclear. In this randomized pilot study, we sought to assess the feasibility of returning actionable research results through a two-step process including a patient-centered digital intervention as compared with a genetic counselor (GC) in the Penn Medicine biobank. In Step 1, participants with an actionable result and procedural controls (no actionable result) were invited to digital pre-disclosure education and provided options for opting out of results. In Step 2, those with actionable results who had not opted out were randomized to receive results via a digital disclosure intervention or with a GC. Five participants (2%) opted out of results after Step 1. After both steps, 52 of 113 (46.0%) eligible cases received results, 5 (4.4%) actively declined results, 34 (30.1%) passively declined, and 22 (19.5%) could not be reached. Receiving results was associated with younger age (p < 0.001), completing pre-disclosure education (p < 0.001), and being in the GC arm (p = 0.06). Being older, female, and of Black race were associated with being unable to reach. Older age and Black race were associated with passively declining. Forty-seven percent of those who received results did not have personal or family history to suggest the mutation, and 55.1% completed clinical confirmation testing. The use of digital tools may be acceptable to participants and could reduce costs of returning results. Low uptake, disparities in uptake, and barriers to confirmation testing will be important to address to realize the benefit of returning actionable research results.

The rod synapse in aging wildtype and Dscaml1 mutant mice.

The retina is an intricately organized neural tissue built on cone and rod pathways for color and night vision. Genetic mutations that disrupt the proper function of the rod circuit contribute to blinding diseases including retinitis pigmentosa and congenital stationary night blindness (CSNB). Down Syndrome cell adhesion molecule like 1 (Dscaml1) is expressed by rods, rod bipolar cells (RBCs), and sub-populations of amacrine cells, and has been linked to a middle age onset of CSNB in humans. However, how Dscaml1 contributes to this visual deficit remains unexplored. Here, we probed Dscaml1's role in the maintenance of the rod-to-RBC synapse using a loss of function mouse model. We used immunohistochemistry to investigate the anatomical formation and maintenance of the rod-to-RBC synapse in the young, adult, and aging retina. We generated 3D reconstructions, using serial electron micrographs, of rod spherules and RBCs to measure the number of invaginating neurites, RBC dendritic tip number, and RBC mitochondrial morphology. We find that while rod-to-RBC synapses form and are maintained, similar to wildtype, that there is an increase in the number of invaginating neurites in rod spherules, a reduction in RBC dendritic tips, and reduced mitochondrial volume and complexity in the Dscaml1 mutant retina compared to controls. We also observed precocious sprouting of RBC dendrites into the outer nuclear layer (ONL) of the Dscaml1 mutant retina compared to controls. These results contribute to our knowledge of Dscaml1's role in rod circuit development and maintenance and give additional insight into possible genetic therapy targets for blinding diseases and disorders like CSNB.