Frequently Asked Questions

Simons Searchlight is a research program that studies rare genetic neurodevelopmental disorders. You can:

• Learn how you or your child compare to others in your genetic community through summary reports and presentations
• Receive gift cards for completing surveys
• Connect with others who have your diagnosis through our Facebook community and by attending conferences
• Make a difference by contributing information:
  – to help develop care guidelines for patients
  – for research that will help you and future families
• Be invited to participate in new studies of the natural history or treatment of your genetic disorder

Anyone in the world with a confirmed diagnosis of a genetic disorder that we study can join Simons Searchlight. Biological parents and full biological siblings can also participate. If the person who has the genetic variant is under 18 years old, their biological or adoptive parent or guardian will need to create an account to begin participation.

Simons Searchlight is currently available in English, Dutch, French, and Spanish, but more languages are on the way, including Italian, German, and Portuguese.

For the list of genes that we study, please check our website: https://www.simonssearchlight.org/research/what-we-study/.

The genetic disorders in Simons Searchlight are considered rare. In order to learn about how these genetic conditions cause different neurodevelopmental disorders, we need more information. The more people who participate, the more likely we are to help researchers make discoveries that improve the lives of those who have these conditions. In addition, if you or your child has a unique gene variant we encourage you to participate, to make sure scientists have information specifically about you.

Simons Searchlight is funded by the Simons Foundation, a non-profit that provides funding in the areas of math and science research. Simons Searchlight is one of many research studies that are supported by the Simons Foundation. You can find more information on our SFARI programs web page.

Patient advocacy organizations have different levels of involvement with Simons Searchlight. Some organizations engage with us online through email and social media. Others organize conferences that bring families and researchers together and allow the Simons Searchlight team to present updated results.

Patient advocacy organizations are pivotal to driving forward research in rare genetic disorders by connecting with qualified researchers. These researchers can request access to de-identified Simons Searchlight data at no cost through SFARI Base, the Simons Foundation Autism Research Initiative’s secure online repository. We have also established a Community Advisory Committee, or CAC, that periodically surveys participants for feedback. We welcome comments by email at coordinator@simonssearchlight.org.

The Simons Foundation maintains a neutral research space for both academic researchers and for-profit companies, with the goal of supporting early data sharing in a non-competitive space  to accelerate scientific progress. Qualified researchers are eligible to request data and samples, regardless of whether they work for a non-profit or for-profit institution. The Simons Foundation does not accept funding or any other payments from pharmaceutical companies or from any other for-profit, non-profit, or not-for-profit companies.

Simons Searchlight collects basic information about you and your family, and genetic information from genetic lab reports that you upload when you register. We also collect medical history information on behavior, communication, motor skills, and more through surveys assigned on your dashboard.

When your information is released to scientists, all of your personally identifying information is removed. Personal identifying information includes names, birthdays, addresses, and any other information that could readily identify you.

Learn more on our ‘Data and Biosamples’ webpage.

For some surveys, we provide individualized survey results based on your answers to help you understand how your child’s features compare to others who have the same genetic disorder. We also regularly provide summary reports for genetic disorders with at least 10 participants. These summary reports can be found on the web page for your genetic disorder. Find your genetic condition on our list. Finally, our staff are available to present detailed research summaries at your meetings and conferences.

Certainly! We offer regular summary information for genetic groups that have at least ten families with available data, known as ‘quarterly reports.’ Additionally, we provide personalized survey result summaries to assist families in comprehending how their features, or those of their child, compared to others with the same genetic disorder.

However, Simons Searchlight does not generally send source data back to participants or patient advocacy organizations.

Yes. As a way to reward you for your time, when you complete tasks for Simons Searchlight, you will receive online rewards. Any online rewards you earn can be redeemed through the Rewards feature on your account dashboard.

Access your dashboard and view our webinar on how to claim your gift cards below.

The Simons Foundation is committed to the long-term success of Simons Searchlight. There are no plans to discontinue Simons Searchlight.

Scientists can apply to access your data and samples through the Simons Foundation Autism Research Initiative (SFARI) Base. More information on available data and samples can be found on the SFARI website. Instructions for scientists on how to download data can be found at SFARI Base.

The secure funding and experienced staff make Simons Searchlight a unique resource for families and researchers. We have a biorepository, or blood bank, where we create and store different kinds of samples that researchers can use to help better understand genetic disorders. Simons Searchlight also encourages researchers to study across different gene groups.

Simons Searchlight currently studies over 170 genes that cause rare neurodevelopmental disorders, and our list is always expanding! Currently, the Simons Searchlight gene list contains 156 gene changes and 24 copy number variants (CNV) that are known to be associated with autism and other neurodevelopmental disorders.

In order for a new gene or copy number variant (CNV) to be added to our list, variants in the gene or CNV need to be strongly linked to neurodevelopmental disorders like autism or developmental delays. Our medical genetics committee meets quarterly to review new genes and CNVs. If your or your child’s gene or CNV is not on our list, please fill out our Gene List Addition Request Form, to be considered by our genetics committee.

Once a decision is made, you will be notified.

The ability to connect participant data across multiple sources is crucial for working together on rare diseases. CRIDs (Clinical Research IDs) are a tool to make this connection. They give individuals in research a unique universal ID, making it simpler for doctors, scientists, and patients to centrally share and access information to collaborate effectively as a team.

Creating a CRID for yourself or a family member is simple. Just follow these steps:

• Go to TheCRID.org and freely make a unique identifier using 8 letters or numbers (but not 1, 0, I, O, or L).
• Once you’re registered, you can share your CRID with medical providers or research studies like Simons Searchlight (learn more below).

If you’re part of Simons Searchlight, adding your optional CRID is easy too. Just follow these steps:

• Log into your Simons Searchlight account at SimonsSearchlight.org.
• Choose which family member’s CRID you want to add.
• Click on the “Account Settings” tab on the left side of the page.
• Scroll down to “Other Settings” and type your CRID in the CRID field. Then click save.

If you haven’t registered with us, you can create an account at SimonsSearchlight.org by clicking on “Join Us.”

Once you have registered, log in to your account. You’ll see a box on the left side of your dashboard that says, “Priority Task.” This tells you what needs to be done next. If you registered with us before May 2019, you may need to reset your password. Please reach out to the Simons Searchlight team at coordinator@simonssearchlight.org for help with this.

Need more help with registration? Watch this step by step tutorial video:

During registration, you will be asked to verify your email address by entering in a code sent to your email.

If you don’t receive an email from Simons Searchlight asking you to verify your email address via a code or you are unable to log into your account after you verify, please email us at coordinator@simonssearchlight.org.

• A consent form provides you the information you need to make an informed choice about whether or not to participate in a research study. Our ethics board requires that each participant has a signed consent form.
• To complete your consent form on your dashboard, click “Begin Task” in the “Priority Task” box.
• Information on how to consent for your children is given under “How do I add children to my account?”
• To find your completed consent forms, log in to your account. On the right side of your dashboard, you’ll see a box that says “Documents.” Here you will find consent forms for all family members you registered. If you registered before May 2019, your consent forms will not be available on your dashboard, however you can request them by emailing us at coordinator@simonssearchlight.org.

• Log in to your account. On the right side of your dashboard, you’ll see a box that says “Family Invites.” Inside is a smaller button that says “Add Family Member.” Click on it to register your child.
• You can consent for your children by clicking on the “All Tasks” box on the left side of your dashboard. The box and its contents will expand. Click on the arrow for the participant you want to select, and you’ll be shown their active tasks. This view will also show you tasks that have been completed and the date they were completed.

Each independent adult over the age of 18 needs to create an account of their own. To help the other parent start the process, go to the “Family Invites” box on the right side of your dashboard and click on “Invite Other Parent.” This will take you to a form that asks for the other parent’s name and email address. Once you submit this information, we’ll send an email inviting them to join Simons Searchlight. They will be asked to fill out the registration and consent for themselves. They will not need to add any children, though, since you will have already registered the children on your account.

Reach out to the Simons Searchlight team by emailing coordinator@simonssearchlight.org and we will remove this task from your dashboard.

When you click “next” to move to the next survey page, your responses are saved. In between survey pages you can take a break and all the responses entered up to, but not including your current page, will be saved. Log back in at any time and pick up where you left off.

On the login screen, click “Forgot Password” at the bottom and enter the email address you used to create your account. You will receive an email with instructions to reset your password. If you continue to have issues, contact the Simons Searchlight team by emailing coordinator@simonssearchlight.org.

Genetic lab reports are filled with important information about the genetic results for you or your family member. The Simons Searchlight team has created two webinars that walk you through what each piece of your report means and its importance. There are separate webinars based on the type of genetic change:

• Copy number variant, such as 16p11.2 deletion or 1q21.1 duplication, or
• Change in a specific gene, such as SCN2A or MED13L.

You can view these webinars here: https://www.simonssearchlight.org/information-resources/your-genetics-lab-report/.

Contact us if you have questions about your lab report: coordinator@simonssearchlight.org.

If you do not have your genetics lab report, we can get it for you. Sign into your Simons Searchlight dashboard to give an electronic signature and we will request your report (not registered? you can sign up here: research.simonssearchlight.org/account/create). All the steps are explained in this short how-to-video:

After you consent to participate in Simons Searchlight, you will be assigned a Lab Report Upload task.

If you don’t have a copy of your genetic lab report, you can give us permission to request this from your doctor by filling out the Genetic Release Form online.

This form allows the institution where your genetic testing was done to send the report to Simons Searchlight. If you have a copy of your lab report, you can upload it on your dashboard, but make sure that you include every page. If you run into any issues, you can always send your lab report directly to our coordinators by emailing coordinator@simonssearchlight.org.

Your genetic lab report will be reviewed by our team to be sure that your family is eligible to participate and to obtain important information from your report that can be used by researchers. It can take from one to three weeks for your report to be reviewed. Once the report is reviewed and approved, we will email you and assign new tasks to your Simons Searchlight dashboard, including a task to schedule your medical history phone interview.

Sometimes the genetic conditions we study are inherited, meaning that they come from our parents. If either parent also has the genetic variant, it’s possible that other siblings may have it too without showing symptoms. Even if no one else in the family has the genetic variant, data from family members can be useful for comparing people who have genetic conditions with those who are closely related.

When you participate in Simons Searchlight you can:

• Learn how you or your child compare to others in your genetic community through summary reports and presentations.
• Receive gift cards for completing surveys.
• Connect with others who have your diagnosis through our Facebook community and by attending conferences.
• Make a difference by contributing information:
  – to help develop care guidelines for patients
  – for research that will help you and future families.

• Be invited to participate in new studies of the natural history or treatment of your genetic disorder.

Review our online brochure for more information.

If you are not comfortable participating in English and you are fluent in another language on our list, we will ask you to complete the following steps. Not all surveys are available in each language, so your list of things to do may be different from someone who participates in English. Please review our webpage for more details.

1. Start by clicking “Join Us Today” to register in your preferred language. The consent form has been officially translated by a medical translator.
2. Upload your genetic lab report that provides the detail on your genetic disorder.
3. Speak to a Simons Searchlight genetic counselor on the phone about your or your child’s medical history. A medical translator will be on the phone to help translate information accurately.
4. Complete any additional surveys that appear on your dashboard.

Due to the difficulty of shipping saliva and blood samples internationally, we can only collect samples from participants in the United States.

Here are some of the ways that we keep your personal information private:

• Before we share your data with scientists, your personal identifying information, like name, address, and date of birth, are removed and replaced with a study code to make sure no one can readily identify you.
• All your research data and records are stored electronically in a secure, encrypted, password-protected database.
• We will not release research data about you or your child to others, unless required by law.
• We will never publish anything about the study on any forum that could identify you without your express permission.
• Our third-party service providers and consultants are legally required to keep all your research data private. While we cannot guarantee total privacy, we make every effort to maintain your privacy.

You can read more about Simons Searchlight’s privacy policy on our website: https://www.simonssearchlight.org/privacy-policy/.

All independent adults will have their own separate account, including biological relatives. Information is not shared across accounts. If you are the first parent to create an account and you invite the second parent, you will only be able to see his or her name on your Simons Searchlight dashboard but no tasks or whether he or she has accepted the invitation to join. If you are the invited parent, you won’t see the tasks of the first parent or any of the children added by the first parent, but you may see their names on your dashboard.

We take your privacy very seriously, especially if you’re part of a smaller genetic community. Since there may be fewer people — sometimes less than 10 — with the same genetic changes, there could be a slightly higher risk of someone identifying you, even after we remove your personal details.

To reduce this risk, we use strong security measures and share only de-identified data. Sharing this data allows us to release information for smaller groups, helping raise awareness, encourage more research, and create tools that can improve understanding and treatment of rare conditions.

We do everything we can to protect your information while supporting research that benefits you and your community.

• Researchers usually combine the data in our registry with data in their research lab or study. They use this information to increase scientific knowledge of a condition.
• Different researchers look at the data in our registry in different ways, and we encourage all types of researchers to access the Simons Searchlight  data.
• The Simons Searchlight  team continually reevaluates the surveys we collect in our registry. If there is something you recommend adding to our survey list, please contact us by emailing coordinator@simonssearchlight.org.

• That depends. Different researchers study different genetic disorders, so how many times your data has been accessed will vary by genetic condition. New researchers access our data frequently, so usage changes over time. As a reminder, all of your identifying information is removed from data and samples before they are used for research. Qualified researchers with approved projects always have access to the data at no cost.
• Our goal is to provide data and samples to researchers. If you are in contact with a researcher who might be interested in our resources, please reach out to the Simons Searchlight team by emailing coordinator@simonssearchlight.org.
• Your data will be released to approved researchers once you have consented, submitted your genetic lab report, and participated in at least one survey. In order to protect your privacy, Simons Searchlight requires that there are at least five participants per genetic condition that have completed these tasks before releasing the data to a qualified researcher.

• Researchers use blood samples for a variety of reasons, from gene sequencing to stem cell creation. Providing a blood sample for research is optional, and you may opt in or opt out on your or your child’s consent form.
• It is important for researchers to have access to data about you along with your blood sample. Keeping up to date with requested tasks on your dashboard helps to further research.

No. Qualified researchers interested in accessing Simons Searchlight data and samples can complete an application on SFARI Base. After being reviewed and approved, Simons Searchlight data will be shared. When samples are requested, researchers pay only for the cost of preparing and shipping the samples.

Simons Searchlight has reviewed the GDPR. According to the ‘participant’s right to access’ provision, personal identifiable data will be shared back to the participant in electronic format if requested.

SPARK is a United States-based autism research initiative that aims to recruit, engage, and retain a large community of people who have autism and their families. It is only for families living in the United States. Simons Searchlight is an international study of people who have specific genetic disorders, who may or may not have autism, and their families. Currently, Simons Searchlight collects more detailed medical information about people who have genetic conditions.

If you are participating in SPARK and already know that you have a genetic change that is on our list, we encourage you to also register for Simons Searchlight. If you already participate in Simons Searchlight, you do not need to sign up for SPARK. Many surveys are similar between SPARK and Simons Searchlight. We hope to reduce the number of surveys that are repeated for anyone who is participating in both studies.

Yes, most of the genetic results from SPARK are related to autism, and people with those gene changes are eligible to participate in Simons Searchlight. If you receive a result from SPARK that is related to your or your child’s autism diagnosis, you will be invited to join Simons Searchlight.

SPARK returns some genetic results that are disease-causing but not linked to autism. These results are called incidental findings. Individuals with these results are not eligible for Simons Searchlight.

Yes, when a SPARK participant enrolls in Simons Searchlight, we recommend that they fill out all of the assigned surveys on their dashboard. Symptoms and features can change over time, so we will also follow up with you yearly for updates.

We know that one of the major challenges for rare disease groups is to increase the number of participants in research. We also know that families have many demands on their time. When a genetic condition already has a well-established patient registry or natural history study, we believe it is important to avoid dividing the efforts of participants. As a result, the following list of genetic conditions were removed from Simons Searchlight’s gene list in September 2020:

You may have seen one of these names on your blood draw kit, or in your paperwork. IBX is the name of our biorepository that is based at Rutgers University in New Jersey. IBX was formerly known as RUCDR, which stands for Rutgers University Cell and DNA Repository. We work directly with this repository to process your blood samples.

You said “YES” to the optional biospecimen collection on your Simons Searchlight consent form. All of your identifying information is removed from samples that are sent to researchers.

Most of the time, blood is more useful for scientists. This is because within your blood, there are many cell types that can be used and turned into other cell types. For example, a blood sample from a participant can be turned into induced pluripotent stem cells (iPSCs). iPSCs are a powerful resource for researchers. Saliva is still useful for research, but it is more limited.

When we mailed you the kit, you were also sent an email with instructions on how to find your local Quest Diagnostics to schedule an appointment. The package you were sent should include an additional instruction sheet. Once you find your local Quest Diagnostics, you can schedule your appointment and take your kits to your visit. A phlebotomist at the Quest Diagnostics will draw your blood, package the kit, and ship your samples for you. If you have any issues with this process or need the instruction email resent, feel free to reach out to the coordinators by emailing coordinator@simonssearchlight.org.

We partner with Quest Diagnostics, a United States-based network of laboratories, for collecting blood samples for Simons Searchlight. If you have a medical provider, such as a primary care doctor, who is willing to draw your blood for Simons Searchlight, this is also an option for participants in the United States. Your doctor needs to be willing to do this without a prescription and without payment because the rules are strict regarding research blood draw collection. Before we mail you a kit, we ask that you confirm in advance with your provider that they are willing to collect your blood for you. We provide instructions and the materials to ship the samples to our repository regardless of where they are drawn. If you plan to have your medical provider complete the blood draw for you, you can download this form and share it with them, which explains what Simons Searchlight is and the purpose of the draw.

Due to the difficulty of shipping saliva and blood samples internationally, sample collection is currently restricted to participants in the United States. However, we do review international blood donation on a case-by-case basis. Contact us if you are interested.

There are no costs associated with your sample collection. We pay for the collection at Quest Diagnostics and for shipping your kits to you and to our lab. If you are asked to cover any costs, please reach out to us before paying them.

No, you will not receive any results from your blood sample. All of your identifying information is removed from samples before they are used for research.

Sample collection is an optional part of our research, so you don’t have to do it. You can also schedule your blood draw at a later time — just let us know.

Simons Searchlight collects blood from families that have consented to provide samples as a part of their participation in the study. The blood samples collected for Simons Searchlight are de-identified and stored at a research repository. Qualified researchers can request to access these blood samples to better understand the genetic variants in Simons Searchlight.

Learn more in this blood sample collection graphic.

Genetic testing is used to identify additional family members that have the gene change, for example 16p11.2 or SCN2A. Our genetic counselors determine who is eligible for genetic testing after reviewing your family’s records. We will only send you genetic testing kits for family members who are eligible for additional testing.

If you are eligible for genetic testing, we will reach out to you to let you know. Our team of genetic counselors reviews your lab reports to determine eligibility for genetic testing. All of the lab reports that are submitted will be reviewed. If you are considered eligible for genetic testing, you will need to create a Simons Searchlight account and sign a consent form.

The lab usually takes about four weeks to send us test results. Once we receive a result, a genetic counselor from our team will email or call you with this information and provide you with a copy of the lab report.

It’s optional — so you don’t have to! We offer genetic testing to eligible family members as a part of participation in Simons Searchlight . If you’d like to discuss the benefits and limitations of genetic testing for other family members, please reach out to one of our genetic counselors at coordinator@simonssearchlight.org.

There are no costs associated with your sample collection. We pay to ship the kit to you and then to our lab, GeneDx. We also pay for the cost of the testing at our lab. If you are asked to cover any costs, please reach out to us before paying them.

A genetic testing kit will have a returnable result. We contact you once your results are ready and answer any questions you may have at that time. For the RUCDR kits, all of your identifying information is removed from samples before they are used for research. There will be no returnable results.

Yes! Variants of uncertain significance, also called VUS, are genetic variants that we don’t fully understand when genetic testing is completed.

Genetic testing laboratories classify the significance of genetic variants based on the evidence in the literature, genomic databases, modeling tools available at that time, and inheritance information (if a genetic variant is passed down from a parent (inherited) or brand new, only in a child (de novo)). Certain types of genetic tests can be completed with a child as well as their biological parents submitting samples to provide information about inheritance. Genetic testing completed as trio, includes a child and each biological parent. Based on all of these pieces of evidence a genetic variant can be classified as a variant of uncertain significance when there is not enough evidence to classify the genetic variant as benign (harmless) or pathogenic (harmful). Variants of uncertain significance may be reclassified as benign or pathogenic over time. This happens as more evidence accumulates and additional research is completed, including initiatives such as Simons Searchlight.

As part of participation in Simons Searchlight, all variants of uncertain significance are reviewed by our genetic counseling team every year to capture new research or knowledge that may change the classification. We also offer complimentary parental testing to help participants and researchers to better understand the possible significance of uncertain variants. Resolving the classification of variants of uncertain significance is meaningful to families, researchers, and Simons Searchlight. We keep a close eye on variants of uncertain significance and will update you if there is a reclassification.

A person’s medical history contains information that is important for understanding the natural history of a rare disease. This is why we make it easy for all families to report medical history information through a hybrid of online and telephone surveys.

• You will receive a reminder by email to report your or your family member’s medical history. Log in to your Searchlight account and select the Medical History task on your dashboard.
• In 2022, your first medical history will take place by phone interview, and you will schedule an appointment with a certified genetic counselor using an online calendar.
• In 2023, your first medical history will begin with an online screening survey, followed by an optional phone interview with a genetic counselor.
• Follow ups will be done yearly around the person’s birthday—watch for an email reminder to complete the Yearly Medical History Update online.

The MHI scheduling task is assigned as soon as your lab report is approved (about one to two weeks after your lab report is uploaded). Within this task, you will be able to select the day and time you would like to have the call.

If you live in the United States, one of our genetic counselors will call you at the phone number listed in your Simons Searchlight account. If you live outside the United States, check your email for a Zoom link to join an audio call.

The MHI scheduling task will automatically adjust the displayed time slots to match the local time zone of your internet browser.

If you need to reschedule your MHI call, log into your dashboard and click “reschedule” under the completed MHI schedule task.

If you have any questions about signing up for Simons Searchlight research, please review our registration webinar below or email the study team at coordinator@simonssearchlight.org.

Your first Baseline Medical History task is assigned as soon as your lab report is approved. This is usually about one to two weeks after your lab report was uploaded. In 2022, you will complete a scheduling task first, to select the day and time you would like to have the call. In 2023, we added a link to the Medical History survey to complete on your account dashboard.

Your first Medical History, also called your “Baseline”, will ask questions about pregnancy and birth and all medical and developmental issues for the person with the genetic condition. After that, the Yearly Medical History Updates will ask for any new diagnoses and treatments, and how issues have improved or progressed. We suggest that you have medical records on hand to help with topics, such as medication, surgery, and hospitalizations. In order to understand how you or your family member changes over time, it’s important to complete these yearly surveys.

You and your families play critical roles in advancing rare disease research. Katina Calakos, a neuroscientist from the Simons Searchlight team, discusses this further in the short video below.

Discover the significance of sharing your medical information and completing the Annual Medical History Survey (AMHS) conveniently from home. Explore the impact of your contribution, redeem rewards for your participation, and stay connected with our team for ongoing support and answers to your questions. Your involvement is crucial in propelling forward medical research and elevating clinical care on a global scale. Watch the video to learn more.

No problem at all! We know many participants complete their initial medical history call with decades of medical information. For your first Baseline Medical History, our genetic counselors will follow up with you with a phone call to walk through it. They are highly experienced in the medical histories of individuals with neurodevelopmental disorders and will be able to walk you through your child/dependent’s medical history, even if not all of the details can be recalled.

After that, in your Yearly Medical History Update survey, you will not need to remember and report all of that past information again.