The HME Database
The aim of the HMESG UK HME Database is to provide answers to important questions about the rare condition (1 in 50,000) that have not been answered so far by experts or literature.
This will be achieved by the collection of information directly from HME sufferers (anonymity will be kept). A natural history for each sufferer will be developed providing a wealth of data for future analysis.
This is vital to the future of HME sufferers. As far as we know, there has never been any such collection of information. Little is known about the condition and information for medical professionals is sparse and often inaccurate and out-of-date.
With the support of an appointed National Clinical Advisory Board and Information Technology design and maintenance from the University of Edinburgh it is anticipated that the HME Database will offer a unique opportunity for sufferers and researchers alike.
Funding is required for the entire project which will last for many years. This is a very exciting venture for the HMESG and its members.
Planning for this project is taking place now!
If you would like more information please contact Christine Spencer, Chair person Christine Spencer
Would you like to take part in UK HME research?
Every so often we get to hear about research projects and would like to let you know about them so that you can take part if you choose. If you would like to be on our new research register, please complete the enclosed form. The information will be kept confidentially by the HMESG and used solely to send such details on behalf of researchers. I will be co-ordinating this register and look forward to hearing from you!!
Talking of researchers, recently I met with Mr Daniel Porter, the Orthopaedic Surgeon who is collaborating with us on the HME Dabatase Project, and learnt that he has the most productive clinical research output in HME of any researcher worldwide.
We are so fortunate to have had Daniel’s support in the Group since its inception and to be working with him on the future project of the Database. It is hoped that the Database will be embraced by sufferers of HME as a place where they can store an accurate record of their medical history while providing important information about the condition and its effect on daily living.
You can find a list of Mr Porter’s publications on our website click here for your information and if you go to http://ukpmc.ac.uk/ and enter the title of any particular paper, you can usually read it in its entirety, or at least a summary. Please note that these are scientific papers and not in layman’s terms, but can still prove interesting reading.
Click here to downlad the research register form.
Preimplantation Genetic Diagnosis (PGD) for HME – Update April 2011
Preimplantation Genetic Diagnosis (PGD) is a treatment used to help people avoid passing on a genetic condition to their children. Basically, medical technology is used to create embryos in a laboratory. When the embryos are made up of only a few cells, usually eight, one or two cells are extracted and a DNA test is performed to check for the genetic condition of interest. Only embryos which do not have that condition are implanted into the woman.
If you are considering PGD for HME, the good news is that since 2009 all UK clinics which are licensed to carry out PGD are allowed by the Human Fertility and Embryology Authority (HFEA) to perform it for HME. You will find it helpful to understand the current decision making process in the NHS for PGD. However, if you are considering treatment in a couple of years, the structure of the NHS will be massively different and nobody yet knows who will be making decisions about PGD under the new system. The government hope the Health and Social Care Bill will become law this spring/summer.
If you have HME and you are interested in PGD, you should get yourself referred to your local genetics service by your GP. Your local genetics service will then refer you to a specialist centre which offers PGD; this treatment is only available in certain clinics. You can search the HFEA website for fertility clinics in your area which offer PGD. The main NHS centre in the UK for PGD treatment is Guy’s and St Thomas’ Centre for Preimplantation Genetic Diagnosis, so many people will have to travel to London for treatment. Private companies such as Care Fertility can offer PGD to some of their patients and the treatment is paid for by the NHS – you need to check whether this is an option where you live. The success rate for pregnancy per cycle started is 48% with Care Fertility, similar to the 45% reported by Guy’s Hospital. Care Fertility can normally work up a test in a couple of months. Guy’s take about six months to work up a test and obtaining funding could take longer. The test normally involved markers for a specific gene, however, if you are a spontaneous case of HME, it will be necessary for your whole gene (EXT1 or EXT2) to be sequenced. This can be done on the NHS at regional genetics services, even for patients who go on to use Care Fertility, paying privately or obtaining their treatment through the NHS.
Decisions about who should receive certain treatments can be made at different levels within the organisation of the NHS. The current situation is that decisions can be made locally at the level of the PCT. There are 151 in England. You can find out which is your local PCT on the NHS Choices website. Most decisions about PGD are made at the PCT level. Unfortunately, this means access to PGD varies around the country. In some places PGD might not be available at all on the NHS. In other places the criteria to be treated might be that the couple have no children, whereas other PCTs will offer treatment to couples who already have a child affected by a genetic condition. Also the number of cycles of treatment might vary. Some PCTs might offer one or two cycles, others might offer three.
Some Specialised Commissioning Groups (SCGs) are involved in helping the PCTs come to decisions about whether to fund PGD for individual cases. There are 10 Specialised Commissioning Groups which cover the different regions of England.
The London SCG established a Genetics Consortium which has developed criteria to inform decisions about the clinical appropriateness of PGD for specific cases. These include that PGD, in general, should be offered on the NHS to couples, where clinics have a licence for the genetic condition in question, the woman is under 40 at the time of referral, she is of a healthy weight (BMI under 30), both partners are non-smokers, and the couple do not have a healthy child from the current relationship. It is also recommended that there is a significant risk (greater than 10%) of having an affected pregnancy. There is a 50:50 chance of passing on HME, so the condition fulfils that criteria.
,p>The Genetics Consortium includes PCTs outside the London region including the South East of England, Cambridgeshire, Hertfordshire, Bedfordshire and Essex. So for a couple whose PCT is part of the Genetics Consortium, their case would be recommended for PGD without evaluation by the PGD Clinical Advisory Group if all the above conditions are met for certain specified genetic conditions. Unfortunately HME is not one of the specified conditions, so the decision would go to the PGD Clinical Advisory Group. However, if the above criteria are met, although it is a case by case decision, there is a good chance that the PGD Clinical Advisory Group would recommend PGD. The PCTs fund the treatment and they are not obliged to follow the recommendation. In London, the PGD panel tends to recommend three cycles. The information from the first cycle, if unsuccessful, can be used to tailor the drug treatments to the individual, so that the success rates are likely to improve after the first cycle. In Scotland, Ireland and Wales decisions are made on a case by case basis without a set of criteria for when to recommend PGD.The availability of PGD is still very unevenly spread across the UK. If the Health and Social Care Bill gets passed in its current form, PCTs will no longer exist in England after April 2013. In the future funding decisions for PGD may go to GP consortia or the decisions could be made at a national level by the National Commissioning Board which will be set up in 2012. Many people on regional commissioning boards are recommending that PGD decisions be made by the National Commissioning Board. Let’s hope that happens. Please contact me if you have any more information on this subject or if you have any queries: tina@illumination-ed.co.uk
Tina
Dr Tina Read