Genetic Analysis FAQ
Date Revised: July 13, 2020
What genes and genetic differences are linked to autism?
The SPARK gene list includes genes and specific genetic differences scientists can confidently say are related to autism. New genes and gene changes are added to this list twice a year. The list is vetted by SPARK researchers and a committee of genetics experts. View a SPARK video about this process.
What is a “genetic difference”? What type of genetic differences will SPARK uncover?
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. These differences can range from being harmful to helpful. Some can have no effect.
Once our lab receives a family’s samples, we look for genetic differences that are definitively linked to autism. If such changes are found and confirmed, the family is contacted about those results. SPARK will return the genetic result either through a SPARK genetic counselor or through the family’s own medical provider.
Since new autism genes are discovered every year, each family’s genes will be re-analyzed every year and rechecked for results.
Will everybody in SPARK receive genetic results?
No. Because SPARK is a research study, our genetic analysis is not like a clinical genetic test or commercial sequencing service. SPARK provides genetic results in the form of a clinical report only if we discover a genetic change associated with autism.
Not everyone in SPARK will have genetic findings linked to autism. Based on what we know today about genes that are linked to autism, SPARK scientists expect to find a genetic difference linked to autism in as many as 10% of people in the study. This number will increase as we learn more about autism and identify more genes that are linked to autism.
There is also a chance that we will find genes linked to autism in your sample only after we have studied genes from many other families and compared them with yours. In this case, it could be years before there are results to return. Keep in mind that genes are not the only cause of autism, so not all people with autism will have a genetic difference.
Why does SPARK’s genetic analysis take a long time?
Once a sample arrives at the lab, it goes through processing. During this stage, the lab makes sure the sample can be used. For example, they check to see if there is enough DNA in the saliva for it to be usable.
After processing, the sample is stored until we send it out for sequencing. We do not sequence samples as they come in. Instead, for logistical reasons, we wait until we have large batches of samples ready. Storage does not affect the integrity of the DNA.
During sequencing, we look for genetic differences that are definitively linked to autism. If such changes are found and confirmed, the family is contacted regarding those results. It can take many months to study genes and confirm findings. If we find genes linked to autism in your sample, it will be at least one year from the date we get your sample before the results will be ready to share.
If I have a genetic result, how will it be returned to me?
When SPARK has a genetic result to return to a family, the primary account holder is contacted by email. The family can choose if they would like to receive the result through a SPARK genetic counselor or through their own medical provider.
For more information, see If a genetic cause is found, will my health insurance coverage be affected?
Will SPARK tell me about genetic differences not related to autism?
Very rarely. In almost all cases, the genetic results we return will be related to autism. If we do return a result unrelated to autism, we will do so based on current recommendations from the American College of Medical Genetics.
How will studying genes help people with autism?
The best research in our field has shown that genetic differences play a big role in autism. There are likely hundreds of genes involved in autism, and while some of these genes are already known, very large studies like SPARK can help find others.
Learning about the genetic causes of autism will help us find potential treatments and preventive measures for things that are common within subtypes of autism, like digestive issues and seizures.
Since everyone has different genes, some treatments may work well for one person while other treatments may work better for someone else. In the future, treatment will likely be tailored based on your or your child’s particular causes of autism.
There is no history of autism in our family, so where did my or my child’s autism come from?
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.
Will it help to know that I or my child has genes linked to autism?
Knowing that you or your child has 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.
- If you or other family members want to know if you or they have a higher likelihood of having a future child with autism.
Why do you need saliva from multiple family members?
We are more likely to find clues about a person’s autism when we can also study saliva samples from their biological parents and full biological brothers or sisters. Family members share many genes. Comparing samples from family members makes it easier for us to spot differences in genes.
If a genetic cause is found, will my health insurance coverage be affected?
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.
When studying genes, can you tell if someone is the child’s biological father or mother?
Yes. We can tell from saliva samples whether people are related. However, if we find that someone is not the biological parent, we will not share this information
What happens to my saliva sample after my DNA has been sequenced?
We will keep your saliva sample in a secure laboratory. If we have received enough DNA, research staff may separate the samples into smaller amounts and freeze them, so they will be available for research for an indefinite period of time. The samples will be stripped of your personal identifying information and labeled with a unique study identification number.
What kind of data is generated from DNA sequencing, and can that information be used to expose an individual’s identity?
DNA sequencing decodes the genetic letters that make up an individual’s genome. SPARK only looks at the portion of DNA that codes for proteins, because most genetic differences related to autism are found in this part of an individual’s DNA. The information generated from SPARK’s sequencing analysis cannot be used to determine a person’s identity. All sequencing data is stored securely in the SPARK database. Researchers who request access to SPARK’s genetic data must also agree to store this information securely and may only use it for scientific purposes that they designate in their request.
What is generated from the DNA that is provided to SPARK?
The genetic information we generate is stored securely in the SPARK database. SPARK and affiliated scientists analyze this information to better understand the genetic components of autism. Sometimes the results of this research will appear in scientific journals. The information that appears in these journals cannot be used to expose an individual’s identity.
Who uses DNA from SPARK?
SPARK study staff and researchers from around the world depend on it. Outside researchers must go through an approval process before they are allowed to access SPARK’s DNA database.
Can my data ever be used to identify me or my family members?
It is possible that the vendors we work with (for example, a company that hosts a SPARK survey) could identify participants from their data. However, all of our vendors sign privacy agreements and are required by law to abide by these agreements.
Your contact information will not be shared with researchers through SPARK’s research matching program unless you give us permission.
Does SPARK sell data or DNA samples to anyone?
No. SPARK does not and will never sell data or DNA to anyone.
Would police or the FBI ever be able to access DNA or other information collected?
Generally, no. 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 in order 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.