JScreen FAQs: Questions About Genetic Testing

JScreen is a not-for-profit at-home education and carrier screening program for Jewish genetic diseases. The goal of the program is to give individuals and families easy access to information and to allow testing to be done conveniently from home. Testing is performed by a certified laboratory and results are reviewed and reported to participants by genetic counselors. In some states, test results must be reviewed and reported by a specific healthcare provider, and if so, JScreen genetic counselors will work with the provider to ensure you receive your results and any needed follow-up in a timely manner.
Other screening programs require a visit to a community screening event, family physician’s office or medical center. With JScreen, eligible participants can learn about the program and screen from the comfort of their homes.
Our panel includes more than 200 genetic diseases, and includes those that are commonly found the Jewish population, as well as other populations. To view a complete list of the conditions on the JScreen panel, click here.
JScreen’s panel consists of more than 200 genetic diseases, and includes those that are commonly found in the Jewish population (Ashkenazi, Sephardic and Mizrahi), as well as other populations. To view a complete list of the conditions on the JScreen panel, click here. JScreen screens primarily for diseases inherited in a recessive pattern, meaning that a child can only have the condition if both parents carry the non-working gene for that condition. Typically, people who are carriers of recessive conditions do not have symptoms because they have only one copy of the non-working gene. Each child of two carrier parents has a 25% chance of inheriting two copies of the non-working gene and having the condition. JScreen also screens for several X-linked conditions that can be passed from a carrier female to a child who may have symptoms. All females are screened for Fragile X syndrome. Please see below for more information.

There is also a very small chance that testing will indicate that you may be at risk for developing symptoms of a genetic condition. Some, but not all, of these conditions are treatable. If this happens, JScreen will help identify specialists in your area to address these health concerns.

Fragile X syndrome is a condition that causes a spectrum of developmental and behavioral problems, which tend to be more severe in males. For more information on Fragile X syndrome, click here.
Fragile X syndrome is inherited differently than the other diseases on JScreen’s panels. Women who are carriers have a 50% chance to have an affected child. (Of note, boys symptoms are usually more severe than girls.) Males can be carriers for Fragile X, but it is only when the woman passes on the genetic change that a child is at risk to be affected.

If you and your partner are considering screening, but only want one person to be screened, we suggest women have the screening done so they can be tested for Fragile X.

No, we do not do testing to determine where a person’s ancestors originated.
JScreen is an independent, not-for-profit program focusing on carrier screening for genetic diseases common in the Jewish population. Both JScreen and DTC programs allow participants to screen at home, but JScreen’s program is led by medical professionals at an academic medical center and provides specialized genetic counseling follow-up by phone or video-conferencing for people who are identified as carriers.
JScreen is a national not-for-profit program based out of Emory University School of Medicine’s Department of Human Genetics. The program specializes in carrier screening for genetic diseases common in the Jewish population. JScreen’s scientific and medical directors provide oversight for the program. All screening tests are ordered by medical providers as required by law. All samples are tested in a CLIA-certified laboratory and results are reported by certified genetic counselors with expertise and training in this specialty area. Your results are stored in a HIPAA-compliant database that meets the highest security standards required by Emory University. JScreen’s team of genetic counselors is led by Emory faculty with more than 30 years of experience in the genetic counseling field. Finally, JScreen has partnered with other organizations in the Jewish community. Click here for a list.
No. The JScreen genetic screening panels are geared toward reproductive risks, not personal health risks. To view a complete list of the conditions on the JScreen panel, click here. If you are interested in learning more about breast cancer risks in the Jewish population or if you have specific family history concerns, please contact the Sharsheret program at http://www.sharsheret.org
No. The JScreen genetic testing panels test for carriers of single gene disorders. To view a complete list of the conditions on the JScreen panel, click here. Your risk for having a child with a chromosomal abnormality like Down Syndrome is not related to your ethnic background. Contact your OB/GYN to discuss the availability of screening for Down Syndrome and other chromosomal abnormalities during pregnancy.
We’re appreciative of our community’s support for our efforts with JScreen. Please email info@jscreen.org to ask how you can contribute, or click on the “Donate” button at the top of the page.
Please help us spread the work about JScreen to your family, friends and community. Share our website at http://www.jscreen.org/ and encourage your friends and family to follow us on our social media channels:

The JScreen staff can send a representative to give a presentation at an event or meeting in your community. Email us at info@jscreen.org about organizing an event in your area.

Complete the JScreen Volunteer Info Form and one of our representatives will contact you shortly. Any time commitment is appreciated!

About the Test

No. In DTC testing, people order and receive their results directly, without genetic education prior to testing, physician input, or genetic counseling to explain their results. With JScreen, your doctor and our genetic counselors are involved throughout the process.

There are 4 easy steps to obtaining a kit from JScreen:
Step 1:
Request a kit from JScreenorg. We will contact your physician to obtain medical approval.

Step 2: Register
Receive a JScreen kit in the mail, along with instructions for collecting your sample.

Step 3: Submit
Use the kit to send a saliva specimen to the laboratory in a prepaid envelope.

Step 4: Results
In roughly three weeks, you will be contacted by our clinical team when your results are complete.

Screening is done through a saliva sample that the participant collects at home and ships to the testing laboratory in a pre-paid envelope. Genetic testing is performed on DNA from the saliva sample.
Yes. The DNA that comes from blood is the same as the DNA from saliva, so the accuracy is the same.
Saliva samples are convenient and less invasive than drawing blood. However, there is a small chance that JScreen may require another sample due to insufficient DNA or the quality of DNA in your sample. All samples undergo a rigorous quality control process, and a small percentage of saliva samples do not pass all quality check points. If this happens, JScreen will contact you to coordinate the collection of a new sample.
JScreen uses a method called sequencing, which is a thorough look across the gene from beginning to end. A handful of genes on the panel are tested with a different method due to differences in gene structure.
DNA sequencing will detect the majority of Tay-Sachs carriers in all ethnic groups. In a small percentage of cases, a follow up blood enzyme test will be needed for clarification of carrier status. A JScreen genetic counselor will talk to you more about blood enzyme testing, if needed.
The detection rate (rate at which the test can identify carriers) will vary depending on disease. For the vast majority of genes on the panel, the laboratory reports a detection rate of greater than 99%. Testing both partners allows for the most comprehensive risk estimation.
Learn more about starting the JScreen process of genetic screening today.
Please understand that our program does not advocate screening without appropriate education. To ensure that individuals fully understand the processes and potential outcomes, we strongly encourage all of our participants to thoroughly review the information provided on the JScreen website. Additionally, participants will be asked to review detailed consent forms. Once you enter your registration information, a JScreen genetic counselor will review all information and may contact you via email for any clarifications needed. JScreen will also obtain an order for testing and genetic counseling from a healthcare provider, as required by state law, where applicable. The process follows the highest standards for Jewish genetic screening and counseling. After a person has completed these steps, JScreen will mail the screening kit.

Eligibility: Who is eligible for genetic testing with JScreen

Over time, new diseases are added to screening panels. JScreen recommends the most comprehensive screening to help ensure the health of your future family. If you have a specific question about your previous screening, contact a JScreen genetic counselor at genetic.counselor@jscreen.org.
Yes. The vast majority of children with these diseases are born to parents who have no family history of the disease. Remember that carriers are healthy and usually don’t have symptoms of the disease. The only two ways to find out if you are a carrier are 1) for you and a partner who carries the same disease gene to have an affected child, or 2) to be screened. Screening allows couples to know ahead of time that they are at-risk and to take steps toward having healthy children.
No. Each child of two carrier parents is at a 25% risk for having the disease. A carrier couple could have healthy children and then have an affected child. You should ask about updating your screening before each pregnancy.
Yes. JScreen’s panel includes more than 200 genetic diseases that are commonly found in both the Jewish and general populations. Therefore, the JScreen panel is applicable for those with Jewish and non-Jewish ancestry.
Yes. Having even one Jewish grandparent puts you at increased risk for carrying one or more of the Jewish disease genes.
Yes, even if only one member of a couple is Jewish, we recommend that you get screened. Follow-up testing will be recommended if necessary.

Please note that Fragile X syndrome screening is only performed on women. As a result, we recommend that women always be screened, regardless of ethnicity.

Yes. The JScreen panel includes disease genes that are common in the Ashkenazi, Sephardi, and Mizrahi populations, as well as other populations. Depending on the family’s country of origin, additional testing may be recommended. A JScreen genetic counselor will thoroughly review your registration and will contact you if further clarification is needed.
Ashkenazi Jews are Jews whose ancestors came from Eastern and Central Europe. About 85% of the Jewish population in the United States is Ashkenazi. Sephardic/Mizrahi Jews have ancestors who came from North African and Mediterranean countries.
Yes. JScreen’s panel includes more than 200 genetic diseases that are commonly found in both the Jewish and general populations.
We do not recommend carrier screening on children. If your children are 18 or older, screening is available. It is important that your children be tested for the exact same genetic change (mutation) that you carry. Please email genetic.counselor@jscreen.org to schedule a genetic counseling session over the phone to discuss appropriate screening. It would help to have a copy of your results with you when you call. Alternatively, you can send us a copy of the results prior to calling by faxing them to 404-778-8642.
The JScreen test screens for all of the disease genes on the panel using what is called ‘chip technology’. You do not need to specify which tests to run because they all run at the same time and the price remains the same regardless of the number of diseases tested.
Individuals screened through Dor Yeshorim do not receive copies of their results. Dor Yeshorim results are only used to determine whether you and your prospective partner carry the same disease genes. As a policy, Dor Yeshorim only screens for a very limited number of diseases. If you screen through JScreen, you will be tested for more than 200 conditions, including those common in Ashkenazi, Sephardi and Mizrahi populations. You will receive copies of your results and will know your carrier status for each disease on the panel. If you have specific questions about Dor Yeshorim, please contact them directly.
You can be screened through our program; however, please remember that results usually take about four weeks. For this reason, we strongly recommend that you and your partner get screened at the same time.
JScreen may be the right test for you. It depends on whether the specific genetic changes in your relative’s gene are testable through our panel. Try to find out if your relative has had a genetic (DNA) test and get a copy of their results, if available. Then contact us at genetic.counselor@jscreen.org to schedule a genetic counseling session over the phone to discuss appropriate screening.
Carrier testing is designed for people who are planning a family and wish to know if they are at increased risk to have a child with a genetic condition. It is not designed to provide information about personal health or to diagnose a person with symptoms. It cannot provide information about ancestry. People in the age range of 18-45 are most likely to be planning a family. People who are outside of this age range who believe they have reason to pursue JScreen testing should contact our office at 404-778-8640 or support@jscreen.org.

About the Results

Unfortunately, no genetic test is perfect and no screening test can eliminate all of your risk. While very unlikely, a person can test negative for any of the disease genes and yet still be a carrier. Testing both partners allows JScreen to provide the most comprehensive risk assessment.
It is very common to be a healthy carrier of a genetic disease. For most diseases on the JScreen panel, being a carrier only poses risk to future children if your partner carries the same condition.
Typically, carriers will not develop the disease. For the majority of conditions on our screening panel, a person must have two copies of the non-working disease gene, one from each parent, to have the condition. Occasionally carriers can have symptoms of the condition, but these are typically mild. A genetic counselor will review any potential symptoms with you when you get your results.
Yes. Although the chance is very small, it is possible to learn that you may have or may be at risk for a medical condition, such as late-onset Tay Sachs disease or Gaucher Disease. Should this happen, a genetic counselor will provide you with information about the condition and refer you to a medical specialist in your area, if appropriate.
Results are typically available in 3-4 weeks from the time the sample arrives at the lab.
You will receive an email indicating that your results are ready. This email will give you further instructions on how to obtain your results.
JScreen genetic counseling is done via telephone or secure video conferencing. For individuals who want to follow up with a genetic counselor in person, JScreen will refer them to a provider in their area. Please note that additional fees may be required from those providers.
JScreen will automatically send your results to the healthcare provider you indicated on your registration. This is the same person who will sign your test order. If you did not include your doctor’s information when you registered, or if you want your results sent to a different doctor, please call JScreen at 404-778-8640 or email support@jscreen.org for the required paperwork.
We are not able to share confidential information with anyone other than the participant without his or her written permission. Please have your son/daughter contact JScreen directly at 404-778-8640 or support@jscreen.org, and we will provide the required paperwork.

Genetic Testing Cost

The only out-of-pocket expense with health insurance is an upfront program fee of $149 – regardless of coverage. If the entire cost of the test is covered by insurance, the program fee will not be returned.
There is no extra cost for Fragile X syndrome testing.
Yes. If you do not have health insurance, send an email to support@jscreen.org to get more information on the self-pay rate.

Yes. JScreen has a limited amount of need-based financial assistance available for those who qualify. Send an email to support@jscreen.org for more information.

There is no charge for your phone or secure video counseling session. If your counselor feels that you require more than the allotted time to discuss your results, he or she may refer you to a genetic counselor in your area for follow up. This follow-up genetic counseling may result in a separate fee.

JGIFT Certificates

It’s easy! They simply need to request a kit through Jscreen.org. During the registration process, there’s a place for them to enter the number from their gift certificate(s).
For individuals with health insurance, the gift certificate will cover the entire out-of-pocket (OOP) cost for the test. If a recipient does not have insurance or chooses not to use insurance, the value of the gift certificate will be applied to reduce their OOP expenses. The recipient will be billed for the balance owed.
Yes. Unused JScreen certificates expire five years after the date of purchase.
If a recipient receives more gift certificates than they need to cover their out-of-pocket expenses, they may transfer them to their partner, a friend, or a family member. Our goal is to screen as many people as possible!
If a recipient’s out-of-pocket expenses are less than the value of the gift certificate, any leftover funds will be used for JScreen’s financial assistance and outreach and education programs. Leftover funds will not be returned to the purchaser.

Register For Your Kit Now

Register to receive a JScreen at-home, saliva-based test kit and learn about options to help you have a healthy family.

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