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Molecular Genetics Study

Background information:

Autism is a profound neurodevelopmental disorder of childhood affecting approximately 0.6-1% of the population. It is defined by deficits in social interaction, communication and a rigid and repetitive behavioural style. There is no known cure for autism but advances in molecular genetics are helping to highlight the underlying mechanisms in the brain that might be involved. Known genetic causes have been identified in around 10% of autism cases attributable to rare changes in the genetic sequence. We are interested in investigating further the genetic cases of autism to help clarify the totality of genetic causes that ultimately will lead to better diagnostics and therapeutics. Our research group has been engaged in understanding the underlying causes of autism at the genetic level and neurobiological level for more than 12 years. We run a program of clinical recruitment to our genetics research program and use samples of DNA obtained from individuals affected by autism and their family members to study genetic factors. We have established a database of individuals and their DNA for our research program and are involved with a large group of international collaborators within several research collaborations, e.g. The Autism Genome Project (AGP). The aims of this study include the continued ascertainment and recruitment of individuals with autism and their family members to our genetics study and for further collaboration with our international researchers. Specifically our investigations will involve studying both the underlying genetic and structural changes in genes and the investigation of common genetic variation. We will combine molecular and clinical data, such as cognitive measures and neuroimaging data to further our understanding of the interactions between genes, biology and behaviour.

Who is being included in this study?

People with autism and their families.

What does this mean for me?

You are being contacted about the Molecular Genetics Study to ask your permission to include your child’s DNA as part of a group of individuals with autism that are being sequenced. If you agree to participate we will include your DNA in an established database of individuals for our research program and are involved with a large group of international collaborators within several research collaborations, e.g. The Autism Genome Project (AGP). This information will also be anonymous and will not contain any personal identifiers. If you wish to participate we will ask you to sign the consent form that is at the end of this document. If you do not wish to participate we will ask you to sign the opt-out form. If we do not hear from you in four weeks we will give you a call to ask you if you have any more questions about the project. If you wish to contact us first, please find the contact details at the end of the form. We will also be happy to arrange a time to meet with you to discuss further.

What are the risks associated with participating?

There are no medical risks as we are not requesting you to take part in more procedures at this point.

Will I get feedback about my DNA results?

We are not planning to routinely feedback the results of the DNA testing or give you your child’s genetic sequence. However there are a few rare instances where we might find out something that is important to your child’s health.

  1. We might discover a genetic change that has caused your child to develop autism or may affect his/her condition in some other way. If this finding is thought to be of enough significance to his/her condition we will contact you to arrange for you to have the finding confirmed in a clinical genetics laboratory. We will contact your GP to let him know that we will refer to clinical genetics for further testing. You will be offered follow up within the clinical genetics service who will give you more information about the meaning of the finding to your child’s condition.
  2. There is a chance that we may come across genetic changes that place your child at significantly increased risk for another disorder or illness, not autism. We will not routinely search for such genetic changes but there is a possibility that we or other researchers might identify these. If this happens the researchers in the Molecular Genetics Study will feed that back to us and we would tell you about it. We will only inform you if you agreed to being informed and if there is an available intervention or investigation that would be beneficial to your child. The benefits of this intervention should outweigh the risks.

In either case you may either consent to be told this information or you can tell us that you do not wish to know this information. You can indicate your choice in the consent form.

Findings that are not clinically relevant but may be interesting to follow up:

We may find genetic changes in your child’s sequence but do not know if these are responsible for your child’s condition. In this case we may wish to conduct further investigations and contact you for additional procedures. You can indicate in the consent form if you can be contacted in this case or if you do not wish to be contacted.

How will this research benefit me?

You and your child will not receive direct benefit from participation in this research project. By taking part in the study you will help to provide information to understand more about the genetics of autism. This may be of help to other people affected by autism in the future.

Will this research change the interventions or services that I receive?

There will be no change to the interventions or services your child receives whether you take part in this study or not. It is your right to choose whether you take part.

How will my child’s privacy be protected?

Any information we have on file for you is entirely confidential. All your child’s details are stored in a locked research room. Only researchers working in the Autism Genetics Group in Trinity have access to these details. The information that we share and the information uploaded into the database is given a unique study number. No details that might identify you or your child are shared with the researchers outside our group in Trinity. Any researchers who want to use the data will have to apply to a Data Access Committee and sign a legally binding data access agreement. In this they will agree:

                1/ To use the data for research only
                2/ Protect the confidentiality of the data
                3/ Keep the data secure
                4/ Not to make any attempt to identify any person within the data
                5/ Not to give the data to anyone who does not have the permission to access the data or share any part of the data that could identify a person.

The results from the analysis of your DNA will not be released or shared in any way with your relatives, with insurance companies, or any third party not involved in research. When results of this study are published, your child’s name will not be used.

Costs and compensation:

There are no costs to you personally by participating in this research study. You will not receive any payment for your child’s DNA.  No commercial company will have direct access to your child’s information. It is possible that the results of this study, which will be in the public domain, may help with the development of a commercial product, e.g. a treatment or a diagnostic procedure. You and your child will not receive any benefit from this.

There are no risks to your child’s health by taking part in this study. However the doctors involved in the study are covered by standard medical malpractice insurance and the scientists are covered by professional liability insurance by the Institutions within which they are employed. Your rights and the rights of your child are not curtailed by this document.

What should I do if I wish to withdraw from the study at any point?

You have the right to leave the study at any time without giving any reason, and without penalty. If you wish to leave the study, contact the Project Co-ordinator, Prof. Gallagher, or any member of the research team. We will inform the management committee of the Molecular Genetics Project to remove your child’s details using your child’s study number. They will take the necessary steps to remove the information about your child’s condition and his/ her genetic sequence from the database. If you decide to withdraw before the information is available on the database we can guarantee that no other person will have access to the data. If the information has already been uploaded to the database we can remove the data so that it is not used from that point forward. If some researchers have already applied for data that includes your child’s information it may not be possible to withdraw his/ her data from studies that are already completed.

What do I do now?

You can find out more information about the Molecular Genetics Study and Autism Genome Project online at:

http://autismgenome.org/

http://www.medicine.tcd.ie/neuropsychiatric-genetics/autism/

In relation to participation in the study contact:

Dr. Nadia Bolshakova (01) 896 2144 or autism@tcd.ie

 


Last updated 23 November 2016 by School Web Administrator.