How will we achieve the aims of this project?
We have designed a web-based questionnaire to collect information on people with chromosome 6 deletions and duplications of all ages and from all over the world, including patients with a ring chromosome 6. We do not only want to collect this information, we also want to follow individuals with chromosome 6 deletions and duplications over time to see what problems come up as they mature.
Who can participate?
You can participate if you are an adult with a chromosome 6 deletion or duplication or if you are a parent or guardian of an individual with a chromosome 6 deletion, duplication or ring chromosome 6.
All patients with a ‘pure’ chromosome 6 deletion or duplication can participate. This means that, apart from their chromosome 6 aberration, they do not have another disorder or genetic disorder. Unfortunately, patients with more complex chromosomal changes (i.e. with other chromosomes also involved) will not be able to participate in the study. This is because we need to be sure that the chromosome 6 aberration is the cause of the features seen in you or your child.
The diagnosis should have been made with a detailed chromosome analysis. You can participate if you have a copy of the report of the detailed chromosome analysis that has been performed on you or your child. If you don’t have a copy of the report, you can ask your geneticist/paediatrician for one using this template letter (example request).
Patients with a chromosome 6 disorder can participate if:
- they have a ‘pure’ or isolated chromosome 6 deletion or duplication.
- the diagnosis has been made by detailed chromosome analysis.
What is the procedure for participation?
If, after reading the information about the project on the webpage and the privacy statement, you want to participate in the project you can sign up. To participate in this study you need to have a valid email address and access to the internet.
When registering your e-mail address and name you will be asked to upload the array result. The array report will be uploaded to the secure environment and the database manager will check the document within a week. If your child is not eligible for the study, you will be sent an email explaining why we will not be inviting you to participate. If your child is eligible to continue in the study, you will be sent an email invitation with a personal account through which you can log into the secure questionnaire environment.
Following this, you will be able to give your consent. Parents/guardians can give consent for children under 18 years old. Children between 12 and 16 years of age are asked to give co-consent, and between 16 and 18 years of age children can give consent and parents are asked to give co-consent, if applicable, according to Dutch law. Independent adults must give their own consent. After participating chromosome 6 patients become independent adults, they will be asked to consent to continuing their participation in the project if they still wish to provide information.
What information do we want from you?
We want you to upload a copy of the result of the detailed chromosome analysis.
After that you are invited to fill in the questionnaire. The questionnaire currently has 14 sections covering diagnostic testing, medical, behavioural and developmental information. Descriptions of each section can be found on the summary of the questionnaire page.
How long will it take to complete the questionnaire?
Completing the entire questionnaire may take several hours, depending on your own or your child’s symptoms and problems. You can fill in the questionnaire over several weeks and continue giving your answers over several sittings. The answers can be saved so that you can continue later. If it takes you more than a month we will contact you to find out if you need help.
When you have completed all the sections you can submit the whole document. After you have completed and submitted the questionnaire, you will still be able to see the answers you have filled in.
How and when will we contact you?
We will use your email address to contact you. There are several time points when we will contact you by email:
- We will send monthly emails to remind you to complete the questionnaire, as long as you have not submitted it.
- We will send emails once a year to ask for updates on your child.
- When we add a new section to the questionnaire, we will send you an email inviting you to fill it in.
- If there is another chromosome 6 research project that may interest you, we will send you an email to let you know about it. No information will be released to researchers outside the University Medical Centre Groningen (UMCG) without asking you for your additional consent.
If you no longer wish to receive emails from us, you can send us an email to unsubscribe.
How will you be informed about the results?
The collected information will be analysed and the results will be made available (anonymously) via publications on the Chromosome 6 Facebook page, in patient information leaflets (in collaboration with Unique, a patient organisation), and in medical journals.
How will your data be used and protected?
The information collected will be used to better understand the effect of chromosome 6 deletions and duplications. We hope the results will eventually help make more information available to parents and professionals. Findings based on the information collected in this project may be published in medical journals and via other channels, and/or presented at medical or patient conferences. The Chromosome 6 research team may collaborate on research with external parties. These external parties will only have access to pooled, anonymous information, i.e. information that has been compiled and stripped of any personal identification. No names and identities will be revealed and all records will remain confidential. The information will be stored on a secure computer system at the University Medical Centre Groningen (UMCG).
The Chromosome 6 research project is being coordinated in the Netherlands, so the project is subject to stringent Dutch law. The Chromosome 6 research project is monitored by the Dutch Data Protection Act (DPA) – (Wet bescherming persoonsgegevens)
In summary: what are you agreeing to if you want to participate?
If you choose to participate, you are agreeing to:
(1) provide a report with the results of detailed chromosome analysis, and information/answers to questions,
(2) allow the Chromosome 6 research team to use all that information anonymously for research and publications, and
(3) allow the Chromosome 6 research team to contact you by email until you notify us that you no longer wish to receive our e-mails.