Can I participate if I live outside of the United States?
Yes, you can participate regardless of where you live. However, it is important to be aware that our study is conducted in English.
Where can I go to have blood drawn?
Our study team can collect the blood sample at Penn. This visit can be combined with a time to fill out study questionnaires, to make participation as convenient as possible.
If it is not possible for you to make it to Penn, we can send you a kit to have blood drawn elsewhere, if there is a lab convenient to you that can do this.
Are there any alternatives to a blood draw?
If a participant is unable to tolerate a blood draw, DNA will be collected from saliva samples. Even though DNA can be isolated from saliva, the most effective way to prepare DNA is from a blood sample. Therefore, blood samples will enable us to perform more comprehensive analyses.
Will I get a report of my genetic analysis?
Genetic analysis is being done for research purposes, not for clinical purposes. If a medically-actionable gene variant is found as part of genetic analysis, a participant can choose to be notified of this information. A “medically-actionable” gene variant is a variant that could be used by your doctor to guide your medical care. There is a list of medically-actionable gene variants determined by the American College of Medical Genetics. Participants will indicate if they wish to have this information communicated with them and/or their health care provider on the consent form.
I would like to get a clinical assessment for autism-related genes. How can I do that?
If you would like to have a clinical evaluation to identify genetic variants or syndromes related to autism, we recommend that you consult with your healthcare provider about it, and consider a clinical medical genetics evaluation that is outside of the ASPE study.
Do medically actionable genetic findings include genes involved in autism?
No, medically actionable genes, as defined by the ACMG, are not related to autism risk.
If a medically actionable result(s) is found about me in the ASPE study, when and from whom will I hear about them?
If you have chosen to have genetic results disclosed to you, and if a medically actionable result is found and confirmed at the University of Pennsylvania Genetic Diagnostic Laboratory, you will be contacted by a certified genetic counselor who will review results over the phone with you at no cost to you.
My blood was drawn quite a while ago, and I haven’t heard back from the research team about any medically actionable findings. Can I conclude that I don’t have any medically actionable genetic variants?
No, you cannot conclude that. If you have not heard from anyone on the research team within 2 years, it is possible:
a) that your sample was not studied yet;
b) that your sample will not be comprehensively sequenced (not all participants genomes will be fully sequenced as part of the study);
c) that no medically actionable genetic finding was identified.
The purpose of the ASPE study is not to make a comprehensive search for medically actionable findings in every participant, and it is therefore possible that we will not find a medically actionable finding that a more comprehensive search would have identified.
I would like to get more definitive results about medically actionable genes in a faster time frame. How could I do that?
If you would like to be certain to get a more comprehensive assessment for medically actionable genes in a faster time frame, we recommend that you consult with your healthcare provider about it, and consider a clinical medical genetics evaluation that is outside of the ASPE study.
I heard from the genetic counselor at the ASPE study that I have a medically actionable finding, and I want to get additional genetic counseling from an outside institution. Will the ASPE study cover the cost of that additional genetic counseling?
If you seek genetic counseling at an outside institution, you will be responsible for payment of these services.
I heard from the genetic counselor at the ASPE study that I have a medically actionable finding, and I want to make changes in my health care based on that information. Should I go ahead and do that?
We recommend that you consult with your healthcare provider before making any health care decisions on the basis of genetic results received.
What if I have previously participated in ASD or genetic research?
Occasionally, participants may be asked if they would be willing to release collected data as a part of other research studies. This may enable participants to opt out of certain assessments that were recently administered elsewhere (for example, at the Center for Autism Research at the Children’s Hospital of Philadelphia).
Will I receive a report with results from neuropsychological testing?
The information collected during this study is for research purposes only, not for clinical purposes. At this time, ASPE is not designed to provide clinical assessments and/or treatment. However, your participation could help us better understand the causes of ASD/Asperger syndrome, which may benefit you indirectly in the future.
How will my personal information be protected?
All data collected in this study will be stored under a study code number, without any information that may identify you. Only authorized study personnel will have access to your direct identifiers, such as your name and other personal information. To prevent unauthorized access to your personal information, all research data and records will be stored electronically in a secure, encrypted, password-protected database with limited access use and access privileges.
The research team will not insert any information, including your genetic results, into your clinical electronic medical records.
To help us further protect your privacy, we have obtained a Certificate of Confidentiality from the National Institute of Health. Our research team can use this Certificate to legally refuse to disclose information that may identify you and link you to this research study.
How will my genetic data be protected?
Even without your name or other identifiers, your genetic information is unique to you. The researchers believe the chance that someone will identify you is very small because your samples will be coded.
Very rarely, health or genetic information could be misused by employers, insurance companies and others. Because of the privacy safeguards that we have outlined above, we believe the chance these things will happen is very small, but we cannot make guarantees. A federal law called the Genetic Information Non-Discrimination Act (GINA) helps reduce the risk from health insurance or employment discrimination. It is illegal for health insurance providers to use or require genetic information to make decisions about a person’s insurance eligibility or coverage. It is also illegal for employers to use genetic information when making decisions about hiring, promoting, and several other terms of employment.
Can I participate if I have a NRXN1 gene variant and intellectual disability?
As long as you have a NRXN1 gene variant, you may still be eligible to participate in our study. This includes individuals with and without intellectual disability.
If I have a NRXN1 gene variant but do not have an ASD diagnosis, can I still participate?
Yes, if you have a known NRXN1 gene variant, you do not need an ASD diagnosis to be eligible.
If I have a NRXN1 gene variant but no symptoms, am I able to participate?
Yes, even if you have no known symptoms as a result of the NRXN1 gene variant, you may be eligible to participate.