FAQ’s

JPatible FAQ’s: Questions About Genetic Testing

JPatible/JScreen is the first program to offer comprehensive genetic testing and genetic counseling for individuals, combined with a service that gives couples information about genetic compatibility. At the end of the screening and genetic counseling process, you will receive a copy of your results. Then, when it comes time to choose a spouse, both participating parties can contact JPatible. Our team will review results and advise on whether you and your potential spouse are at increased risk for having a child with a genetic disease.

The panel being utilized for JPatible participants consists of more than 200 genetic diseases, and includes those that are commonly found in the Jewish population (Ashkenazi, Sephardi and Mizrahi), as well as other populations.

The panel being utilized for JPatible participants consists of more than 200 genetic diseases, and includes those that are commonly found in the Jewish population (Ashkenazi, Sephardi and Mizrahi), as well as other populations. To view a complete list of the conditions on the panel being utilized by JPatible/JScreen, click here. The panel being utilized for JPatible participants screens 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.

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, JPatible/JScreen will help identify specialists in your area to address these health concerns.

Yes. JPatible participants are only screened for recessive disease carrier states. X-linked disease carrier states are indeed part of the typical JScreen panel but not the panel designed for JPatible participants. The reason for this is that the JPatible program is strictly a recessive disease carrier matching program. We recommend that JPatible participants screen for X-linked conditions before a future pregnancy.

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. For JPatible/JScreen, JScreen provides the screening and genetic counseling, and JPatible uses the JScreen results to provide the couple compatibility check.

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.

No. The panel being utilized for JPatible participants tests for carriers of recessive disorders. To view a complete list of the conditions on the JPatible 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.

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 prospective spouses allows for the most comprehensive risk estimation.

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 JPatible 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.

Over time, new diseases are added to screening panels. JPatible/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 prospective spouse 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.

Yes. The panel being utilized for JPatible participants 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 those whose ancestors came from Eastern and Central Europe. About 85% of the Jewish population in the United States is Ashkenazi. Sephardi/Mizrahi Jews have ancestors who came from North African, Middle Eastern, and Mediterranean countries.

The panel being utilized for JPatible participants includes diseases common in different Jewish populations. The panel is comprehensive to both populations, as many families have diverse backgrounds and share mixed ancestry. The program does not require you to choose which diseases you need to be screened for.

Yes. The JScreen panel includes more than 200 genetic diseases that are commonly found in both the Jewish and general populations.

The panel being utilized for JPatible participants uses 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 spouse carry the same disease genes. This means that you are unaware of which disease genes you carry, as Dor Yeshorim does not disclose them. As a policy, Dor Yeshorim only screens for a very limited number of diseases. For example, they do not test for Gaucher disease, the most common Ashkenazi Jewish genetic disease, unless specifically requested. As of early 2018, Dor Yeshorim tests for 10 conditions in their basic Ashkenazi panel, 17 conditions in their expanded Ashkenazi panel and 17 conditions in their Sephardi panel, and individuals are required to choose one of these panels.

If you screen through JPatible/JScreen, you will be tested for more than 200 conditions, including those most common in Ashkenazi, Sephardi and Mizrahi populations-you do not need to select which diseases to be screened for. You and your healthcare provider will receive your results directly from a genetic counselor. You will also receive hard copies of your results to share with your family members if you choose to do so. You will have the ability to contact JPatible for compatibility matching requests. JPatible/JScreen adheres to the highest standards of Jewish genetic screening and follows medical ethical guidelines. If you have specific questions about Dor Yeshorim, please contact them directly.

Yes. When you are ready to begin considering your future with a spouse, both parties can contact JPatible and we will counsel you regarding potential compatibility.

It is very common to be a healthy carrier of a genetic disease. For most diseases on the panel being utilized for JPatible participants, being a carrier only poses risk to future children if you and your prospective spouse are carriers for the same condition.

Yes. It is important to let the JScreen genetic counselors know if you have any affected family members, as this will assist the staff in ensuring that appropriate testing is performed.

Absolutely. Gaucher disease has a 1 in 10 to 1 in 15 carrier rate for Ashkenazi Jews, and between 1 in 400 and 1 in 900 individuals in this population actually has the condition. Gaucher disease can be silent for many years until symptoms become apparent. While unlikely, it is possible to find out through carrier testing that you have Gaucher disease. This is important because Gaucher disease therapy is available, and early treatment can prevent some of the devastating effects of the condition. Treatments include intravenous enzyme replacement therapies or a daily oral therapy.

Once you have been counseled and understand your results, you will have a written copy forwarded to you and to the ordering healthcare provider, as required by state law. Feel free to share your results with family members.

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 prospective spouses allows JPatible /JScreen to provide the most comprehensive risk assessment.

Typically, carriers will not develop the disease. For the 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, JPatible/JScreen 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 from JScreen 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. The medical director of JPatible is also available to discuss results and compatibility.

Yes, but the process differs based on your state of residence:
For New York patients only: JScreen will send your results to your personal healthcare provider by request. 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 for the required paperwork.

For non-New York patients: 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.

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 at 404-778-8640 and we will provide the required paperwork.

The entire JPatible/JScreen service, including screening, genetic counseling, and couple compatibility check, costs $325 per person for individuals with private insurance or Medicaid. If you are uninsured or do not wish to use your insurance, the entire service costs $475 per person. There are no add-on costs or hidden fees. The JPatible matching service can be utilized for as many requests as needed without any added costs.