Month: January 2016

The Patient Group Handbook – now in print!

Great news for rare disease patient groups announced by Nick Sireau and Findacure:  Dear friends, We’re very pleased to say that our latest book – The Patient Group Handbook: A Practical Guide for Research and Drug Development – is now available both in print and ebook formats on Amazon: On Amazon.co.uk in print On Amazon.com in print Or as an ebook All royalties are donated to Findacure, the charity we set up to help rare disease patient groups. Please buy the book and spread the word among your networks. Thank you! Nick and Tony Co-founders, Findacure About the The Patient Group Handbook: This new book edited by rare disease experts Anthony Hall and Nicolas Sireau provides a collection of chapters by world leaders in the field of orphan diseases and drugs in order to help patient groups grow fast and sustainably. As a practical, hands-on guide for research and drug development, it provides tools and advice on topics such as: – How to set up and manage a patient group: US and UK perspectives. – How to build an international research consortium. – How to promote basic research. – How to engage with academia for drug discovery. – How to engage with industry. […]

Why do I want to share my genetic data?

This is a guest post by Craig Macpherson about why he wants to share his genetic data. He is the founder and editor of DNA Testing Choice, a reviews site for the DNA tests you can take at home.  Why have I recently had my Whole Genome Sequencing (WGS) done, and why do I want to make this data publicly available?  Let me take you back a few years so I can answer this question… Although I founded DNA Testing Choice two years ago, I actually came up with the idea in 2010 when I read an article in The Times. A journalist had taken three home DNA tests to establish his genetic predisposition to glaucoma. The results of these tests were broadly similar, but the interpretation of his genetic variants differed significantly.  This raised two interesting questions for me, 1) ‘how would I work out which home DNA test to take, given the complex nature of the service?’, and 2) ‘how would I verify the interpretation I received?’  The first question inspired the site, the second inspired me to buy my WGS. It seemed to me that those taking home DNA tests should be able to separate the raw genetic […]

What is so great about ICD -10?

This is a guest post about ICD -10 by Laura O’Donnell who writes on behalf of EHR, electronic health record experts at OmniMD. As of October 1, 2015 the International Statistical Classification of Diseases and Related Health Problems (ICD) is effectively now in ‘round 10.’ This means that all providers covered by HIPAA (the Health Insurance Portability Accountability Act) are required to make the transition from ICD -9 to ICD-10. It is anticipated that ICD-10’s contribution to precise and meaningful data integration and sharing – across the industry as well as our institutes of research – will further our understanding of medical complications and clarify the connection between a patient’s condition and their physician’s performance. How does sharing data affect research? Applying standard ontologies (vocabularies) to organize and leverage the power of shared knowledge across various disciplines has significantly changed the face of research. As regards to this post, the medical industry’s adoption of ICD language has enabled us to discover and react to patterns affecting public health. For example, prognosis research is using data sharing to focus on future outcomes for patients with particular diseases. Physicians, clinics, hospitals and pharmaceutical companies now combine their respective knowledge with actual patient data. […]

Data sharing to support UK clinical genetics and genomics services

This is a guest post by Sobia Raza – a policy analyst specialising in data science at the PHG Foundation. Originally published here under the title “Responsible, proportionate data sharing for better and safer genetic services”. Introduction The PHG Foundation, are a health policy organisation with a focus on how genomics and other emerging health technologies can provide more effective, personalised healthcare. The Association for Clinical Genetic Science (ACGS), are the professional association for clinical genetics scientists in the UK. The two organisations have recently collaborated to deliver a joint report which examines the challenges to data sharing within UK clinical genetics and genomics services and to identify priority areas for policy development. The report underscores how data sharing is essential to the delivery of NHS clinical genetics services and the clinical care of patients. Access to high quality data on genomic variants can not only inform the diagnosis and clinical management of patients, but also reduce the risk of potential misdiagnoses arising from insufficient or incorrect information about these variants. Other serious consequences of sub-optimal data sharing are delays in patient diagnosis and variations in the quality of testing services. Yet despite the clinical importance of data sharing, current […]

DNAdigest interviews CareAcross

Thanos Kosmidis, a technology and business professional, joined forces with his father, Paris Kosmidis, a medical oncologist with 40 years of clinical experience, to start CareAcross to help patients with cancer and their relatives. What is CareAcross and what is its mission? CareAcross is a digital health company focusing on cancer. Our mission is to support people affected by cancer through credible information, useful tools, psychological support & guidance from experts. Our vision is to facilitate faster, more effective oncology research, and interactions that will improve quality of life of patients and caregivers. We do this through our online platform for patients and caregivers. How and when did it start? What science/research is behind CareAcross? CareAcross.com started in the fall of 2013, when we began putting together a first prototype of an online service for cancer patients and their loved ones. This was after 18 months of research into their “pains, needs and wants”, and the corresponding gaps. Throughout, we have interviewed hundreds of patients and caregivers, and have had roundtables with dozens of healthcare professionals with experience in oncology. These experts continue to be the driving force behind the scientific direction of the company, shaping how we inform, educate and […]

Top