JPatible FAQ’s: Questions About Genetic Testing

JPatible offers comprehensive genetic testing for individuals and couples.

For individuals, after testing is completed, JPatible assists with compatibility matching discretely and confidentially. When two prospective individuals both request matching comparisons, they will be told whether there is any specific risk of being a common carrier for a genetic disorder. Individual results are NEVER shared jointly unless we are directed to do so by both parties.

For couples who are already married, many need to update their genetic screening as science now allows us the ability to test for many more disorders than they might have been tested for in the past. Obstetricians will often ask for updated genetic testing during a pregnancy. JPatibles’ goal is to test well before being pregnant so that risks can be mitigated if a couple are discovered to be common carriers. Married couples are generally counseled together as all decisions need to be made jointly.

Other programs counsel singles together regarding compatibility which can potentially compromise privacy if they do not go through with the marriage.

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 (Ashkenazic, Sephardic and Mizrahi), as well as other populations.

The current Dor Yeshorim program screens for 9, 16 or 22 carrier states depending on what panel the enrollee chooses.

For singles, 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 (Ashkenazic, Sephardic and Mizrahi), as well as other populations. To view a complete list of the conditions on the panel being utilized by JPatible, click here. These 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.

For married couples, there is an option to be screened for X-linked disorders as well. These are carried by one parent and can affect offspring.

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 will help identify specialists in your area to address these health concerns.

No. We do not do testing to determine where a person’s ancestors originated.

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.

JPatible partners with the leading laboratories nationwide utilizing saliva DNA kits. Human saliva has many white blood cells present which can be processed for state-of-the-art DNA sequencing analysis. Screening is done through a saliva sample that the participant collects at home and ships to the testing laboratory in a pre-paid envelope. A blood test in only required if there is a contamination of a saliva sample such as when food is eaten just prior to spitting. If this occurs, and it rarely does, JPatible will arrange for a blood test at a convenient time and location.

Yes. Our team will arrange for school-based screenings for this over 18 years of age. School screening events utilizes the saliva DNA kits as well. No blood drawing is necessary.

Yes. The DNA that comes from saliva is derived from white blood cells present in the saliva. The accuracy is the same for both.

Over time, new carrier are added to screening panels. JPatible 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 JPatible representative at [email protected].

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 Ashkenazic, Sephardic, and Mizrahi populations, as well as other populations. Depending on the family’s country of origin, additional testing may be recommended. The JPatible team will be happy to assist if any additional screenings are advised.

Ashkenazic Jews are those whose ancestors came from Eastern and Central Europe. About 85% of the Jewish population in the United States is Ashkenazic. Sephardic and Mizrahi Jews have ancestors who came from North African, Middle Eastern, and Mediterranean countries.

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 Ashkenazic Jewish genetic disease, unless specifically requested. As of early 2018, Dor Yeshorim tests for 9 conditions in their basic Ashkenazic panel, 16 conditions in their expanded Ashkenazic panel and 22 conditions in their Sephardic panel, and individuals are required to choose one of these panels.

If you screen through JPatible, you will be tested for more than 200 conditions, including those most common in Ashkenazic, Sephardic and Mizrahi populations-you do not need to select which diseases to be screened for. You will receive your results directly from JPatible. Compatibility matching is done when two participants request the service. JPatible 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.

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.

Absolutely. Gaucher disease has a 1 in 12-15 carrier rate for Ashkenazic Jews, and 1 in 850 Jewish individuals actually have 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.

In most cases results are reported in 10-14 business days