What is the aim of the study?
We would like to determine the genetic variation that is associated with neurodevelopmental disorders such as ASD and to link genetic risk factors to other data from the BASIS/STAARS projects.
Why do you want to take a blood sample?
A blood sample is a rich source of DNA (the genetic code), RNA (which helps translate the genetic code to produce proteins), proteins and metabolites (the products from biochemical reactions). It also contains cells that specialise in mounting immune reactions to fight infections. Because it contains so many different elements it means we can undertake many different tests to determine if there are any differences that are hallmarks of developmental disorders such as Autism Spectrum Disorder (ASD).
What is a phlebotomist?
A phlebotomist is a nurse or other health worker specially trained to take blood samples.
How is the blood collection done?
Blood will only be collected by a trained and experienced nurse or phlebotomist. Cooling spray and/or anaesthetic cream will be used before collection. Participants will have their sampling arm positioned comfortably and supported. A gentle tourniquet will be used and participants will be asked to clench their fist. Blood will be drawn with a sterilised disposable needle. We will collect less than 25ml of blood. Cotton wool and a plaster will be used (hypoallergenic or non-latex where necessary) to cover the site.
What does collecting a saliva sample involve?
We will also ask permission to collect a saliva sample, which we can use to study just DNA or RNA (and not the other things that can be studied in blood). All that is required is for you/your child to spit inside a tube or to move a sponge along the gums and inner cheeks to soak up saliva in this area and place the sponge in a tube when finished.
Why do you need questionnaires and online task?
Some studies suggested that common genetic variants are associated with behavioural traits in the general population. We would like to understand whether the same risk variants involved in autism are associated with the behavioural traits measured with the questionnaires.
Why can’t participants have individual results?
In our research team, there are no genetic consultants for rare variants or genetic markers associated with risk for disease. In fact, those kinds of analyses can be done only in specific, certified labs and we do not have ethical permission for this. However, families will be informed about the progress of the research, key findings and any general clinical recommendations that may come from the research. They will be kept informed by newsletter and by information on the web site. Families who are concerned about the possible presence of medical/genetic disorders should discuss the possibility of specialist clinical investigation with their GP.
How will researchers use the blood or saliva samples?
The samples will be used for three main tests. Genes are made up of DNA, the genetic code that contains the instructions for how we grow and develop. Recent research has shown that genes are partly responsible for childhood developmental disorders such as ASD. However, we still do not know exactly which genes are involved or in what way they malfunction. We will therefore extract DNA and RNA from the blood and/or saliva samples and examine it to see if there are any changes or differences in the DNA and RNA. We will look for faults in the chromosomes (a type of skeleton that supports genes). Next, we will use the latest genetic sequencing technology to read the entire genetic code in key regions, in order to look for the subtlest differences in the code. Lastly, if a blood sample has been collected, it will be examined to see if there are any ‘signature’ changes in the products of the genetic machinery (e.g., proteins and metabolites). ‘Signature’ changes of this kind help us better understand the biochemistry of developmental disorders and can be used to improve diagnosis and early detection.
Where are the samples going to be processed?
Samples will be processed at Kings College, London and Birkbeck College, London. Molecular analyses will be performed at the Centre Nationale de Genotypag, the Institut Pasteur, Kings College, London/Institute of Psychiatry and at Birkbeck College, London.