Genetic Alliance - Patient Group Information Day

In April 2015, BBS Support Development Officer Coreen Kelday and Communications Officer Karl Henry attended a Scottish Patient Group Information Day in Edinburgh, which had a varied agenda – focussing on Scotland centred health policy topics  and which also looked at the future of rare disease research and resources available.   

Speakers - Genetic Alliance Event

  • Rebecca Skillen and Ellen Drost  - The SHARE Registry 
  • Dr Shona Kerr University of Edinburgh - Scottish Genomes Partnership

(A Partnership - between the University of Edinburgh and University of Glasgow)

  • Shelia Noble NHS Yellow Card Centre
  • Jennifer Dickson and James Stewart Healthcare Improvement Scotland - Scottish Medicines Consortium
  • Kathryn Fergusson Access for Medicines in Scotland
  • Ailsa Stein from Scottish Intercollegiate Guidelines Network (SIGN) 

The SHARE Register launched 2012 and aims to use the coded data in various NHS computer records to check whether people might be suitable for a broad variety of health research studies. This access can help develop new treatments and cures for a wide variety of health conditions. SHARE is general in the research they wish carry out and the participation they are searching for is wide reaching.

RUDY study which BBS members will be familiar with  - deals in studies for metabolic bone diseases, The SHARE Registry is currently only open to Scottish residents, much in the same way the RUDY project is only available to English residents. More information is available at: www.registerforshare.org

GENOME sequencing has been rapidly dropping in price for the past several years, Dr Shona Kerr from the University of Edinburgh Scottish Genomes Partnership – discussed access to genome sequencing machines allowing more affordable research in the area.  This in turn provides the possibility of medical advancements stemming from genome research and a better understanding of the biology of the disease in question. All this heralding  early stages of development of new tests and treatments for genetic diseases. 

NHS Yellow Card Centre

Shelia Noble Senior Pharmacist with Yellow Card explained this agency’s work involving updating and improving information available to patients and medical professionals on the known side effects of medicines.

There was importance placed on the value of clinical trials and how each step in the process reveals new information on the drug and ultimately whether the drug will make it to market.

Drug trials for medicines which combat rare diseases take place with a much smaller test group due to lack of available numbers. The talk also covered patient and doctor participation in the scheme, e.g. how the revelation of a rare side effect of one particular drug reported to Yellow Card resulted in the drug being moved behind the counter in pharmacies and doctors no longer prescribing it to patients with heart conditions. Karamjit Khangura Adverse Drug Reaction Pharmacist will give a presentation at the Brittle Bone Society Sheffield Patient Day on Saturday 9th May at the Hilton Hotel.         

Scottish Medicines Consortium

Jennifer Dickson and James Stewart from SMA covered getting new drugs available for use on the NHS and how they then analyse whether a newly licenced drug represent value for money in terms of benefits to patients verses cost. Deciding which drugs will be approved can be influenced from appeals from patients. Balanced testimonies from patients explaining the benefits of a particular drug and how it could potentially improve their quality of life are taken into consideration.  

Access for Medicines in Scotland

Karen Fergusson commended the rare disease community on the positive changes and improvements made to access of medicines due to the work they have carried out. The talk also reiterated the point on how the availability of drugs is determined by the value they offer and not the cost.

Ailsa Stein from Scottish Intercollegiate Guidelines Network (SIGN)

The group that produces peer reviewed medical guidelines for patients and medical professionals in Scotland. We can inform members that currently an OI guideline booklet is not in production but, we shall explore this. The creation of one of these booklets would take many years as they take information and experience from many different sources, and would only be applicable in Scotland.