Neil Bennett: Introduction to Action Duchenne & Building a Patient Registry
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A presentation by Neil Bennett regarding Action Duchenne and building a patient registry, delivered at Sano Genetics' Demystifying Genomics for Patient Registries Event on 11th July 2019.
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1. trends in health care and respondible data science and their intersection
2. Secure federated analytics on distributed data repositories
3. Generating clinically relevant hypotheses from patient forum discussions.
10-3. Rare disease registries. Samantha Parker (eng)
This document summarizes the key points in developing global registries for rare diseases. It discusses the definition of rare diseases and registries, and compares registries to randomized controlled trials. Registries can collect real-world data on large populations over long periods of time. The document outlines challenges in rare disease research and treatment that registries can help address. It provides examples of national and European registry initiatives and discusses harmonizing data collection across borders. The need for public health and research-focused registries is described. Finally, a successful European registry for intoxication-type metabolic diseases is presented as a case study.
The Epidemiologist's Dream: Denmark
This document discusses Denmark's national health registries and their use for epidemiological research. It notes that Denmark assigns unique personal identification numbers to all citizens, allowing accurate linkage between various health registries. This enables large population-based cohort studies with long-term follow up. The registries contain information on healthcare utilization, prescriptions, and diagnoses. Several studies are described that use the registries to study topics like MMR vaccination and autism, quality of diabetes care, and blood pressure control. Challenges with using registry data include ensuring validity of diagnoses and missing data. However, strengths include no selection bias, large sample sizes, and prospectively collected data.
A Vision for a National Research Network
The document discusses the vision for a National Patient-Centered Research Network that would help address challenges with clinical research. It would bring together 20-30 million people with diverse characteristics and broad consent for research using their electronic health records over many years. This would allow for more efficient observational studies and randomized trials on topics like mobile health applications, low back pain treatments, and large-scale pharmacogenomics. The network could significantly reduce research costs and help engage more of the public in medical research. Now is a good time to pursue this vision as electronic health records are more widely used and opportunities for clinical questions are greater.
An Introduction to Health Informatics
Presented by Dr Dave Parry(1) and Dr Inga Hunter(2)
(1) Auckland University of Technology
(2) Massey University
Enabling Evidence Based Medicine
This document discusses developing a framework for evidence-based medicine using real-world data. It outlines developing a framework that captures baseline rates and evolves over time. The objective is to facilitate discussion on assembling baseline data from sources like clinical trials, patient data, and genomic studies to derive treatable patient traits and map available therapies to identify unmet medical needs. It provides examples of establishing such a framework for a condition like atopic dermatitis and lists potential components needed like an up-to-date health metrics database and tools for evaluating disease burden and treatment efficacy.
Personalized medicine tools for clinical trials - kuchinke
Tools for personalised medicine in clinical trials. ---------
The implementation of clinical trials in personalized medicine is a different way of doing clinical research compared to the standard way of large clinical trials aiming for statistical significance. Personalized medicine uses a medical model that separates people into different groups with medical decisions, practices, drugs, interventions being tailored to the individual patient based on their predicted response. Basis for this approach is the progress of the study of the human genome and its variation over the last two decades. Especially advancement in automated DNA sequencing and PCR and the use of expressed sequence tags (ESTs), cDNAs, antisense molecules, small nterfering RNAs (siRNAs), full-length genes and their expression products and haplotypes.
But adoption of personalized medicine requires an active and flexible and highly integrated infrastructure, which allows joining of many different competences and technologies. We asked the question: can the tools developed for personalized medicine in the p-pedicine project be employed effectively in a clinical trials network to support personalised clinical trials. We conducted an analysis of tool integration and the evaluation tool usage requirements. Based on the survey results, the tendency for clinical trial network ECRIN is to use software as a service in the form as SaaS or ASP. ECRIN data centres will (probably) not install and employ p-medicine tools in one of their data centres. A robust business model for the provision of services and the implementation and employment of tools does not yet exist.
How can the personalized medicine infrastructure p-medicine and the clinical trials network ECRIN gain from each other to allow the conduct of personalized clinical trials?
We suggest a business model, in which personal medicine infrastructures and clinical trials networks exchange their services to gain jointly from each other. Therefore: an integration by reciprocal exchange of services may be the solution. Not only software as a service will be exchanged, but also knowledge, personnel and joint staff trainings.
Personalized medicine tools for clinical trials - Kuchinke
Tools for personalised medicine in clinical trials.
The implementation of clinical trials in personalized medicine is a different way of doing clinical research, compared to the standard way of large clinical trials aiming for statistical significance. Personalized medicine uses a medical model that separates people into different groups with medical decisions, practices, drugs, interventions being tailored to the individual patient based on their predicted response. Basis for this approach is the progress of the study of the human genome and its variation over the last two decades. Especially advancements in automated DNA sequencing, PCR technologies and the use of expressed sequence tags (ESTs), cDNAs, antisense molecules, small interfering RNAs (siRNAs).
But the adoption of personalized medicine requires an active and flexible and highly integrated infrastructure, which must allow the joining of many different competences and technologies. We asked the question: can the tools developed for personalized medicine in the p-pedicine project be employed effectively in a clinical trials network to support personalised clinical trials? We conducted an analysis of tool integration and the evaluation of tool usage requirements. Based on the survey results, the tendency for the clinical trial network ECRIN is to use software as a service in the form of SaaS or ASP. ECRIN data centres will (probably) not install and employ p-medicine tools in one of their data centres. A robust business model for the provision of services and the implementation and employment of tools does not yet exist.
How can the personalized medicine infrastructure p-medicine and the clinical trials network ECRIN gain from each other to allow the conduct of personalized clinical trials? We suggest a business model, in which personalized medicine infrastructures and clinical trials networks exchange their services to gain jointly from each other. An integration of networks by reciprocal exchange of services may be the solution. Not only software as a service will be exchanged, but also knowledge, personnel and staff trainings.
EuroBioForum 2013 - Day 1 | Etienne Richer
EuroBioForum 2013 2nd Annual Conference
27-28 May 2013 - Hilton Munich City, Munich, Germany
http://www.eurobioforum.eu/2013
=======================================
# NATIONAL PERSPECTIVES #
Canada:
Personalised Medicine: A Canadian Collaborative Perspective'
Dr Étienne Richer, Assistant Director at CIHR Institute of Genetics
=======================================
http://www.eurobioforum.eu
Similar to Neil Bennett: Introduction to Action Duchenne & Building a Patient Registry (20)
Rare Disease Centres of Excellence (CIHR , NMD4C, ERNs & RDI slides)
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Strategy for Rare Diseases in Canada Where are we now? What else is needed?
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Scottish Health Intelligence - creating value for the world
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Organisational Strategy for General Practice - Direction and Challenges
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10-3. Rare disease registries. Samantha Parker (eng)
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As the population is increasing and will reach about 9 billion upto 2050. Also due to climate change, it is difficult to meet the food requirement of such a large population. Facing the challenges presented by resource shortages, climate
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Equivariant neural networks and representation theory
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Disclaimer: No one is perfect, so please mind that there might be mistakes and typos.
dtubbenhauer@gmail.com
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Neil Bennett: Introduction to Action Duchenne & Building a Patient Registry
- 1. The UK DMD Registry
- 2. A world where lives are no longer limited by Duchenne muscular dystrophy
- 3. Setting up the UK DMD Registry - Globally, one of the first for Duchenne (in 2006/7) - Original registry built by a parent with IT knowledge - Support of the DMD community and endorsed by professionals - Steering committee: clinicians, geneticists, families - Patient registry, regulated by Data Protection and GDPR
- 4. Our model - Voluntary and anonymous - Web based, patient-input model - Gene mutation validated by geneticist
- 5. What to collect? - Data set agreed with gobal federation of registries (TREAT-NMD) - Covers a range of areas - Demographic - Medical interventions - Functional measures - Trial inclusion criteria
- 6. How does the registry support clinical trials? - Originally designed to drive recruitment - Duchenne trials have a genetic inclusion criteria - Build alongside the original trials - Now most concerned with feasibility studies - Approached by pharmas interested in UK trial centres - Communication between researchers and patients
- 7. How does the registry support research? - Record prevalence and natural history of the disease - Sending surveys to targeted audiences - Identifying participants for basic research studies - Provide information to clinical care studies - Communication between researchers and patients
- 8. Addressing the challenges - Maintaining engagement for data updating - Collecting certified medical data - Dedicated registry curator - First point of contact - Well-known in community