SPARK for Autism

SPARK’s Genetics Program

Date Revised: June 17, 2025

Contents

Introduction to SPARK’s genetics program
What do we know about the genetics of autism?
Collecting your saliva
What happens to your sample?
What happens if SPARK finds a genetic change?
What results does SPARK return to participants?
What happens if SPARK does not find a genetic change?
Does SPARK return results that are not related to autism?
Privacy considerations and your genetic information
Privacy and insurance coverage
Privacy and law enforcement

Introduction

As a SPARK participant, you will help shape the future of autism research. Your DNA could spark the next genetic discovery!

Autism research has shown that genetic differences play a big role in autism and that there are hundreds of genes involved.  We already know some of these genes, but we are still missing large parts of the puzzle, including most of the genetic changes that lead to autism being passed down in families. Because autism is so complex, it will take very large studies like SPARK to help understand and untangle all its genetic contributions.

SPARK analyzes all DNA samples through a process called sequencing. Sequencing provides the blueprint for your genes and genetic changes. This blueprint allows scientists to compare your genes’ code with that of others to see if you have genetic differences that are linked to certain conditions. In the case of SPARK, we look for differences associated with autism.

Learning about the genetic causes of autism will help us better understand autism overall. This can help scientists and doctors care for autistic individuals and could help find potential treatments and preventive measures for things that may go along with autism, like digestive issues and seizures.

Knowing that you or your child have genes linked to autism may be of help:

  • When there is an opportunity to take part in research or clinical trials matching your results.
  • When you want to connect with other people or families who share the same diagnosis. Families with some of the genetic changes that SPARK returns will be invited to join Simons Searchlight.
  • If you or other family members want to know if there is a higher likelihood of having a future child with autism.

This SPARK article discusses research about how people feel when they learn the genetic cause of their child’s autism.

What Do We Know About the Genetics of Autism?

SPARK scientists and other researchers working on autism genetics have found over 400 genes that are related to autism. That number will continue to grow as we learn more.  Our genes contain the instructions, or code, that tell our cells how to grow, develop and work. “Genetic difference” refers to a change in a gene. Most of these genetic differences have no effect, but others can have a big effect on the gene’s code.

Different types of genetic changes can contribute to autism. In some cases, genetic changes are passed down (inherited) from parents to their children. In other cases, a random change takes place in the sperm or egg because the process of copying DNA is not perfect. This change to the genetic code is considered a “de novo” (new) change. Studying genes can help us find changes linked to autism no matter when they take place.

To learn about these genetic differences and our current knowledge about autism genetics, view Understanding SPARK & Genetics (PDF) and watch this SPARK webinar. In addition, you can learn how SPARK determines which genetic differences might be related to autism and view a list of genes that SPARK uses as a starting point for looking for genetic changes that could lead to autism.

Collecting your Saliva

SPARK sends a saliva collection kit to each family member who consents to the genetics portion of the study. When your kit(s) arrive at your home, be sure to refer to SPARK’s Saliva Collection Resources page for helpful information. If your kit(s) do not arrive within a few weeks of consenting, please contact us.

You and participating family members will collect your saliva as instructed and send the kit(s) to the lab. After you return your kit(s), the lab will analyze the DNA from your saliva sample.

Be sure to collect and send samples from all participating family members. We are more likely to find clues about a person’s autism when we study saliva samples from their biological parents and full biological brothers or sisters. Family members share many genetic changes. Comparing samples from family members makes it easier for us to spot genetic differences that play a role in autism.

What Happens to Your Sample?

We will keep your saliva sample in a secure laboratory. Laboratory and SPARK scientists will sequence and analyze your DNA to look for genetic differences that are linked to autism. Leftover DNA may be kept in secure storage so it would be available for future approved autism research. The samples will be stripped of any personal identifying information and labeled with a unique study identification number.

Since we learn more about autism genetics every year, SPARK will re-analyze your DNA periodically to see if there are any newly-discovered differences related to autism.

What Happens if SPARK Finds a Genetic Change?

When you agree to the genetics portion of the SPARK study, you allow researchers to study your DNA to learn more about autism. When you sign up for SPARK, you will also be asked to tell us if you want to know about any of your, or your dependents, genetic changes. If you do not consent to this ‘result return,’ we will not contact you about your results.

If you do consent, SPARK will let you know if we find a genetic change that is a cause of you, or your dependent’s autism. At that point, you may choose to learn about the result from one of SPARK’s genetic counselors, at no cost to you, or from your medical provider.

Any results SPARK finds need to be relayed to you by a medical professional. You will need to complete a step that tells us how you want to learn about the result. Without this step, we cannot go forward with the ‘return’. Please double check your email and/or address and provide a phone number so that we can reach you.

SPARK only returns genetic changes that we can be confident are a primary cause of a person’s autism. This means that the gene or region involved needs to have a known link to autism, See how SPARK determines which genetic changes to return to participants to better understand what genes and DNA regions we look at.

SPARK will not communicate to participants about every genetic change we find in genes on SPARK’s gene list. This is because many variants do not change how the gene works. SPARK lets participants know about genetic changes that a clinical laboratory determines are either “likely pathogenic” or “pathogenic.” This means that scientists and clinicians have at least 90% confidence that this genetic variation changes how a gene works. Variants that are considered “uncertain” are not communicated to participants. More details on the criteria that clinical laboratories use to make these predictions can be found here.

Because SPARK is a research study, our genetic analysis is not like a clinical genetic test or commercial sequencing service. SPARK provides genetic results only if we discover a genetic change associated with autism and only if this change meets the above criteria. For a full picture of you and your family’s genetics, we recommend pursuing clinical genetic testing.

What Results Does SPARK Return to Participants?

Learn how SPARK determines which genetic changes to return to participants.

Does SPARK Return Results That Are Not Related to Autism?

SPARK’s primary focus is genetic causes of autism. If we identify genetic variants in specific genes that are known to increase the risk of certain types of cancer or high cholesterol, we will return these to you.  The chance of SPARK identifying such a variant is low, and happens in about 1% of participants, or fewer. SPARK will not return health-related results outside of these specific conditions.

You can tell us at registration whether you would want to learn about this information for yourself and any dependents, or not. It is important to note that this analysis is not comprehensive. If you have any concern about your genetics for these conditions, you should pursue clinical testing, even if you have submitted a sample to SPARK.

What Happens if SPARK Does Not Find a Genetic Change?

Not everyone in SPARK will hear about genetic changes linked to autism. Based on what we know today, SPARK scientists expect to find a genetic difference that meets the above criteria in 8 to 10 percent of people in the study.

If we have completed our analysis of your DNA and did not find a genetic difference related to autism, we will tell you in an email.

Because it is expensive to have a clinical laboratory review and confirm the variants that SPARK finds, we are not able to do this step for results that participants already know about. If you told us about a genetic change when completing SPARK questionnaires, we will look in your DNA for anything additional. If we do not see anything else, you will receive the above email. This does not take away any genetic variation that you already know about.

Privacy Considerations and your Genetic Information

We store all sequencing data securely in the SPARK database.

SPARK scientists may access this data. Other scientists may apply to receive SPARK genetic data and are rigorously screened. Approved scientists must agree to keep the data private and secure.

Often, the results of the scientific research conducted by approved scientists appear in scientific journals. This information cannot be used to expose an individual’s identity.

SPARK does not and will never sell data or DNA to anyone.

Privacy and Insurance Coverage

Under the federal Genetic Information Nondiscrimination Act (GINA), having genes linked to autism should not affect your existing health coverage or whether you qualify for health coverage. To learn more, please visit the GINA website.

Results returned to participants are not added to a participant’s medical record and it is your choice whether to share them with your doctors or other individuals.

Privacy and Law Enforcement

To protect your privacy, we have obtained a Certificate of Confidentiality from the National Institutes of Mental Health. Researchers can use this certificate to legally refuse to disclose information that may identify you in any federal, state or local civil, criminal, administrative, legislative or other proceedings—for example, if there is a court subpoena.

Researchers will use the certificate to resist any demands for information that would identify you, except as explained below:

  • The certificate cannot be used to resist a demand for information from personnel of the United States federal or state government agency sponsoring the project and that will be used for auditing or program evaluation of agency-funded projects or for information that must be disclosed to meet the requirements of the federal Food and Drug Administration.
  • The certificate does not prevent you or a member of your family from voluntarily releasing information about your child, yourself, or your involvement in this research.
  • If an insurer or employer learns about you and/or your child’s participation and obtains your consent to receive research information, then the investigator may not use the Certificate of Confidentiality to withhold this information.