Effectiveness and costs of a low-threshold hearing screening programme (HörGeist) for individuals with intellectual disabilities: protocol for a screening study.

INTRODUCTION: Individuals with intellectual disabilities (ID) often suffer from hearing loss, in most cases undiagnosed or inappropriately treated. The implementation of a programme of systematic hearing screening, diagnostics, therapy initiation or allocation and long-term monitoring within the living environments of individuals with ID (nurseries, schools, workshops, homes), therefore, seems beneficial. METHODS AND ANALYSIS: The study aims to assess the effectiveness and costs of a low-threshold screening programme for individuals with ID. Within this programme 1050 individuals with ID of all ages will undergo hearing screening and an immediate reference diagnosis in their living environment (outreach cohort). The recruitment of participants in the outreach group will take place within 158 institutions, for example, schools, kindergartens and places of living or work. If an individual fails the screening assessment, subsequent full audiometric diagnostics will follow and, if hearing loss is confirmed, initiation of therapy or referral to and monitoring of such therapy. A control cohort of 141 participants will receive an invitation from their health insurance provider via their family for the same procedure but within a clinic (clinical cohort). A second screening measurement will be performed with both cohorts 1 year later and the previous therapy outcome will be checked. It is hypothesised that this programme leads to a relevant reduction in the number of untreated or inadequately treated cases of hearing loss and strengthens the communication skills of the newly or better-treated individuals. Secondary outcomes include the age-dependent prevalence of hearing loss in individuals with ID, the costs associated with this programme, cost of illness before-and-after enrolment and modelling of the programme's cost-effectiveness compared with regular care. ETHICS AND DISSEMINATION: The study has been approved by the Institutional Ethics Review Board of the Medical Association of Westphalia-Lippe and the University of Münster (No. 2020-843 f-S). Participants or guardians will provide written informed consent. Findings will be disseminated through presentations, peer-reviewed journals and conferences. TRIAL REGISTRATION NUMBER: DRKS00024804.

Design and implementation of ParkinsonAKTIV: an interventional study to evaluate the effectiveness of a novel online platform to guide quickcard-based treatment decisions.

INTRODUCTION: Patients with Parkinson's Disease (PD) require an all-encompassing and individualized care including pharmacological as well as non-pharmacological treatment approaches, such as physical therapy, occupational therapy and speech and swallowing therapy. ParkinsonAKTIV is an innovative, multidisciplinary, and comprehensive approach to guide this non-pharmacological PD treatment in northwestern Germany. Its online communication platform called JamesAKTIV has been developed to enhance and standardize PD healthcare professionals' communication. The implementation of ParkinsonAKTIV and JamesAKTIV is accompanied through a detailed process evaluation and to gather evidence on the impact on patient-related outcomes, such as health-related quality of life and healthcare costs for people with PD through an effectiveness evaluation. METHODS: The study design contains two parts: (1) first, a quantitative effectiveness evaluation is conducted utilizing a prospective quasi-experimental approach with a control group which examines PD patient's health-related quality of life and physician-assessed PD patient's health status (Unified Parkinson Disease Rating Scale). Moreover, a health economic evaluation of the ParkinsonAKTIV intervention is conducted using patient-reported outcomes and cost data as well as routine data from a statutory health insurance. (2) Second, a mixed-methods process evaluation among healthcare professionals, which examines the feasibility and potential barriers and facilitators of ParkinsonAKTIV for routine care, is performed. Quantitative results from a social network analysis and a survey among healthcare professionals will be triangulated with data from qualitative stakeholder interviews and focus group discussions. PERSPECTIVE: Findings are expected to provide evidence of an increase in quality of life of patients with PD, less severe PD symptoms, and a better ability to participate in activities of daily living. ParkinsonAKTIV has the potential of increasing PD patients' quality of care through sufficient and more tailored prescription of non-pharmacological therapies. It is anticipated that ParkinsonAKTIV will improve communication among health professionals. Results from the ParkinsonAKTIV study will provide first practice-oriented evidence and a roadmap for implementation of an online tool for a comprehensive, multidisciplinary care PD network for patients and their caregivers in routine care in Germany. Trial registration ClinicalTrials.gov: registration number NCT05251298 (retrospectively registered: https://clinicaltrials.gov/ct2/show/record/NCT05251298 ).

The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom.

PURPOSE: The translation of genome sequencing into routine health care has been slow, partly because of concerns about affordability. The aspirational cost of sequencing a genome is $1000, but there is little evidence to support this estimate. We estimate the cost of using genome sequencing in routine clinical care in patients with cancer or rare diseases. METHODS: We performed a microcosting study of Illumina-based genome sequencing in a UK National Health Service laboratory processing 399 samples/year. Cost data were collected for all steps in the sequencing pathway, including bioinformatics analysis and reporting of results. Sensitivity analysis identified key cost drivers. RESULTS: Genome sequencing costs £6841 per cancer case (comprising matched tumor and germline samples) and £7050 per rare disease case (three samples). The consumables used during sequencing are the most expensive component of testing (68-72% of the total cost). Equipment costs are higher for rare disease cases, whereas consumable and staff costs are slightly higher for cancer cases. CONCLUSION: The cost of genome sequencing is underestimated if only sequencing costs are considered, and likely surpasses $1000/genome in a single laboratory. This aspirational sequencing cost will likely only be achieved if consumable costs are considerably reduced and sequencing is performed at scale.

Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature.

PURPOSE: We conducted a systematic literature review to summarize the current health economic evidence for whole-exome sequencing (WES) and whole-genome sequencing (WGS). METHODS: Relevant studies were identified in the EMBASE, MEDLINE, Cochrane Library, EconLit and University of York Centre for Reviews and Dissemination databases from January 2005 to July 2016. Publications were included in the review if they were economic evaluations, cost studies, or outcome studies. RESULTS: Thirty-six studies met our inclusion criteria. These publications investigated the use of WES and WGS in a variety of genetic conditions in clinical practice, the most common being neurological or neurodevelopmental disorders. Study sample size varied from a single child to 2,000 patients. Cost estimates for a single test ranged from $555 to $5,169 for WES and from $1,906 to $24,810 for WGS. Few cost analyses presented data transparently and many publications did not state which components were included in cost estimates. CONCLUSION: The current health economic evidence base to support the more widespread use of WES and WGS in clinical practice is very limited. Studies that carefully evaluate the costs, effectiveness, and cost-effectiveness of these tests are urgently needed to support their translation into clinical practice.