Genetic Variation in Adults with Learning Disability: Participant Information Sheet

Transcription

1 Version 3, 15th January 2012 UCL MENTAL HEALTH SCIENCES UNIT FACULTY OF BRAIN SCIENCES BLOOMSBURY CAMPUS Genetic Variation in Adults with Learning Disability: Participant Information Sheet Part 1 We would like to invite you to take part in our research study. Before you decide we would like you to understand why the research is being done and what it would involve for you. Part 1 tells you the purpose of this study and what will happen to you if you take part. If you are interested then Part 2 gives you more detailed information about the conduct of the study. Please ask us if there is anything that is not clear. What is the purpose of the study? The human body is made up of a huge number of small cells. Almost all these cells contain a substance called DNA. Within this DNA are around 25,000 genes. Genes are often thought of as the body's blueprint or recipes. They contain the information needed for cells to make proteins. Proteins are vital building blocks for the body. For example our muscles are mostly made up of proteins. Changes in genes (genetic variation) can sometimes lead to medical problems, including learning disability. There are already several well known genetic changes which cause learning disability (for example Down syndrome and Fragile X syndrome). However due to recent technological advances in genetic testing it may be possible to identify many more important genetic changes. For about half of adults with learning disability the cause of their learning disability is not known. Most adults with learning disability have not had genetic testing using the latest techniques. We are carrying out this study to: 1. Identify genetic changes that may cause learning disability 2. Find out whether these changes are associated with particular medical and/or mental health problems 3. Find out what people think about genetic testing (people with learning disability, their carers and professionals) 4. Look at how the findings of genetic tests are feedback to people with learning disability and their carers 5. Find out whether the genetic tests were of help in people's care. UCL Mental Health Sciences Unit, Faculty of Brain Sciences, Charles Bell House, 1st Floor, Riding House Street, London, W1W 7EJ Tel n.bass@ucl.ac.uk

2 Why have I been invited? We are inviting people over the age of 18 who have learning disability of unknown cause to take part in this study. It is important to know whether genetic changes are new or have been passed down through the generations. We will therefore be asking participants (or their consultees) if it is ok to contact other members of their family. If Ok, family members will be invited to take part in the study as well. We hope that around 1000 people with learning disability will eventually take part in the study. Do I have to take part? No! It is up to you to decide to join the study. If you agree to take part, we will then ask you to sign a consent form. You are free to withdraw at any time, without giving a reason. This would not affect the standard of care you receive. What will happen to me if I take part? One of the study researchers will meet with you. This could happen at your home or at a clinic. At the meeting the researcher will: 1. Ask you some questions about your health and your family's health 2. Go through a short picture test. The researcher will say some words and you will be asked to point to one of four pictures in a book which shows what the word means 3. Measure your height, measure the distance round your head and make some general observations. You may be asked to take off your coat, cardigan or socks, but you will not be asked to undress. The researcher may ask if they can take a photograph of your face, hands or feet. It is up to you if you want them to take the photo - it will not affect the rest of the study. 4. Ask you to give a DNA sample. This could either be a blood sample or a saliva sample - it is up to you. This should take no more than an hour and a half. The researcher will aim to do everything that is needed in the one meeting but can arrange to meet you again if you don't want to do everything in one go. The person who knows you best (a carer or relative) will be asked to fill out a few questionnaires about you. They may also be asked to help answer the questions about your health and you family's health. We will ask your permission to access your medical records. We will also ask if you want the results of the genetic tests fed back to your GP or psychiatrist. Approximately a year after the meeting you will be asked to fill out a questionnaire to see how you found the study and whether it was helpful. The person who knows you best and your doctor will be asked to fill out similar questionnaires. Page 2 of 6

3 A few people who took part in the study will be invited to a group to talk about genetic testing and whether people think it is a good idea. We will only ask you if you are interested in taking part in this bit of the study. Expenses and payments We are happy to pay any reasonable travel expenses involved in meeting with the study researcher. What will I have to do? As described above you will need to meet with one of the study researchers to go through the questions, have a brief physical examination and provide a DNA sample (a blood sample or saliva sample). You will be asked to fill out a questionnaire approximately a year later. You will not have to do anything else. What are the possible disadvantages and risks of taking part? Minor bleeding and bruising can occur with taking a blood sample. The genetic findings may have implications for you and your family. The genetic testing may indentify a likely cause for your learning disability. This may mean that the risk of your children (or your relatives children) developing learning disabilities can be more accurately worked out. Genetic changes can often have many effects. For example changes that cause learning disability can also increase the risk of epilepsy. Therefore the genetic testing may uncover a health problem or risk of a health problem that you were not aware of. We are only trying to find out the likely genetic causes of learning disability and associated medical and mental health problems. We will not be looking for genetic causes of other diseases, such as breast cancer. However when analysing the genetic test results we may become aware that you have a genetic change which is known to cause a disease such as breast cancer. People with genetic changes that cause breast cancer are at a much higher risk of developing breast cancer. You can decide if you want to be informed about the results of the genetic tests or not. If you want to be informed we will feedback the results of the genetic testing to your GP or psychiatrist. You may want to discuss this with your family before proceeding. Before participating you also should consider if this will affect any insurance you have and seek advice if necessary. What are the possible benefits of taking part? We think there are a number of potential benefits to this study. The identification of new genetic changes that cause learning disability may give us important information about how the brain works. A better understanding of the effects of particular genetic changes on health could aid diagnosis and have an impact on the clinical care of people with similar Page 3 of 6

4 changes in the future. Methods to help with the feedback of complicated genetic test results can start to be developed. What if there is a problem? Any complaint about the way you have been dealt with during the study or any possible harm you might suffer will be addressed. The detailed information on this is given in Part 2. Will my taking part in the study be kept confidential? Yes. We will follow ethical and legal practice and all information about you will be handled in confidence. The details are included in Part 2. If the information in Part 1 has interested you and you are considering participation, please read the additional information in Part 2 before making any decision. Part 2 What will happen if I don't want to carry on with the study? If you withdraw from the study, we will destroy all the data collected about you and the DNA sample that you have given us. What if there is a problem? If you have any concern about any aspect of this study, you or someone you trust should ask to speak to Dr Nick Bass who will do his best to answer your questions. If you remain unhappy, you can contact your local PALS (Patient Advice and Liaison Service) team on or you can complain formally through the NHS Complaints Procedure on / In the event that something does go wrong and you are harmed during the research and this is due to someone s negligence then you may have grounds for a legal action for compensation against UCL but you may have to pay your legal costs. UCL has insured this study for the legal liabilities (negligence) of UCL and its employees or agents Will my taking part in this study be kept confidential? Personal data will need to be kept in order to contact you. All personal data will be handled in accordance with the Data Protection Act. Personal data will be securely held on the UCL IT system. Access will be restricted to the principal investigators of the study and their nominated researchers. We will retain your contact details for up to ten years for the purpose of inviting you to participate in future studies that may lead on from the findings of this project. This does not imply any commitment to participate in follow on studies. Data about you will be anonymised when it is collected. This means that a code rather than your name or address will be written on the questionnaires. So that results can be fed back to your doctor (if you have requested this) the codes will be linked to you. Only the principal investigators of the study will have access to the list which links the code to your name. This list will be held securely. Page 4 of 6

5 Anonymised paper records will be stored securely within the Faculty of Brain Sciences at University College London. The anonymised clinical data will be entered into an electronic database held within the Faculty of Brain Sciences at University College London. Digital photographs will be stored securely on the UCL IT system, separately from the database. It is sometimes useful to publish such photographs in medical journals or databases to help other doctors which of their patients need genetic testing. Where we are allowed we will change the photo so people do not know it is you. However, we will seek your permission (or your consultee s permission) before publishing any photographs of you. Involvement of your General Practitioner/Psychiatrist Out of courtesy we will notify your GP and or psychiatrist that you are taking part in this study. We will ask for your permission to do this. At your request we will feedback the results of the genetic tests to your GP and or psychiatrist. Your doctor may want to talk to you about the results. We may also make recommendations that you would benefit from seeing a clinical geneticist for more tests or information. What will happen to any samples I give? The blood or saliva sample will be in addition to any samples that you normally have taken. However it may be possible to arrange to have the blood sample taken at the same time as you are having routine blood tests at your doctors. If you have samples already stored it may be possible to use these without having to take new samples. The blood or saliva sample will be anonymised when it is collected in the same way as your data (as described above). Samples will be analysed at the Regional Clinical Genetics laboratory at Great Ormond Street Hospital, the Regional Clinical Genetics Laboratory at Guy's Hospital, Kbiosciences, the Sanger Institute and at UCL. The anonymised genetic data will be entered into an electronic database held within the Faculty of Brain Sciences at University College London. Anonymised data may be entered onto databases such as Decipher, which is accessible to other clinicians and researchers. This is standard practice in genetic studies, and the best way to quickly share information about new genetic findings with other researchers and clinicians across the world. What will happen to the results of the research study? We will write up the findings of the study for publication in the scientific literature. These will be the overall findings and no individual who took part will be identifiable in the write up unless they give specific consent to be identifiable (e.g. if they agree for a photograph of them to be published). It is possible that the results of the genetic testing will be relevant to your healthcare. At your request we will feedback the results to your GP or psychiatrist as described above. Page 5 of 6

6 Who is organising and funding the research? This research is being funded by The Baily Thomas Charitable Fund - a registered charity which was established primarily to aid the research into learning disability and to aid the care and relief of those affected by learning disability by making grants to voluntary organisations working in this field. Who has reviewed the study? All research in the NHS is looked at by independent group of people, called a Research Ethics Committee, to protect your interests. This study has been reviewed and given favourable opinion by the North Wales - West Research Ethics Committee. Contact details The Principal Investigators for this study are: Dr. Nick Bass, Dr Andrew McQuillin and Dr Andre Strydom. They are all senior lecturers in the Mental Health Sciences Unit at University College London. Dr Nick Bass and Dr Andre Strydom are also consultant psychiatrists working in the NHS. University College London is sponsoring this study. If you would like further information or want to discuss particular aspects of this study please feel free to contact: Dr Nick Bass University College London, Faculty of Brain Sciences Mental Health Sciences Unit Charles Bell House, Riding House Street London, W1W 7EJ Telephone: Page 6 of 6