Comprehensive and Affordable Jewish Genetic Screening
JScreen is a national, nonprofit service of Emory University Department of Human Genetics.
Wellness Exam Screening for Women with Jewish ancestry
ACOG (American College of Obstetricians and Gynecologists) guidelines recommend that preconception carrier screening be offered to all women with Jewish ancestry (one or more Jewish grandparents). 1 in 3 of these women carries at least one Jewish genetic disease. Most have no symptoms and no family history of that disease; screening is the only reliable way to tell. Early screening gives them the most options.
Genetic testing labs report that less than 25% of Jewish panels are done preconception. Delaying the screen until a patient is ready to conceive is risky. ACOG and ACMG (American College of Medical Genetics and Genomics) recommend preconception testing because of the availability of medical options for high risk couples, including preimplantation genetic diagnosis, donor gametes, and adoption.
Summary information about Jewish genetic screening can be found here.
How It Works
Patients register for screening at JScreen.org, where they learn about genetic carrier testing. Their physician then receives a test request form to sign and return. JScreen mails the patient a saliva collection kit with clear instructions and a prepaid overnight return envelope.
Experts from Emory University manage the sampling, testing and counseling process. DNA sequencing is performed on all samples and is done by CLIA-certified laboratories. Results are stored in a HIPAA-compliant database at Emory University, and counseling via phone or secure video-conferencing is led by the JScreen team and our network of certified genetic counselors once results are available in three to four weeks. The patient’s physician is copied on all test results and counseling notes.
JScreen tests for more than 200 diseases, including all recommended by ACOG (American College of Obstetricians and Gynecologists) and ACMG (American College of Medical Genetics and Genomics). The test includes conditions found in the Ashkenazi, Sephardic, and Mizrahi Jewish populations. JScreen also screens all women for Fragile X syndrome.
Many diseases have carrier detection rates of up to 99%. Our average carrier detection rate is 94% across all diseases. In a small percentage of cases, a follow-up blood enzyme test will be needed for clarification of Tay Sachs disease carrier status. Physicians are encouraged to contact JScreen with any questions.
JScreen’s testing and counseling service costs $149 for patients with insurance, regardless of their coverage for genetic testing and counseling. Patients without insurance may contact JScreen for additional assistance. How can we do this? JScreen is non-profit and is donor supported. Our first priority is saving lives.
Since launching in 2013, JScreen has helped more than 5000 people from across the United States learn critical information about risks to their future children. 93% of our participants have not been pregnant, giving them time to consider all of their options for starting or expanding their family. Over 200 high risk couples have been identified and counseled.
Patient Cost and Physician ICD Codes
JScreen provides genetic counseling and testing for more than 200 genetic diseases for $149. Physician ICD billing codes are shown below.
The following ICD codes may apply for a practitioner caring for a woman needing preconception carrier screening:
- 99211: Office or outpatient visit
- 99242: Office consultation (15-30 min)
- 99243: Intermediate office consultation
- 99244: Comprehensive Consult, 60 minutes
- 99245: Complex Consult
- 99401: Preventive medicine counseling and/or risk factor reduction intervention(s) provided to individual; approximately 15 minutes
- 99411: Preventive medicine counseling and/or risk factor reduction intervention(s) provided to individuals in a group setting; approximately 30 minutes
- 99420: Administration and interpretation of health risk assessment
You Can Prevent Jewish Genetic Diseases
Obstetrician-Gynecologists are ideally positioned to help prevent genetic disease. Because autosomal recessive diseases show no symptoms in carriers and rarely show in family history, genetic testing is the only option. All women with Jewish ancestry who are of reproductive age should be offered genetic testing.
In addition, screening is important for both Jewish and interfaith couples, as “Jewish” genetic disease genes are also present in the non-Jewish population. For all of these couples, consider screening the female member first and, if positive, her partner. If the couple is already pregnant, both members should be screened at the same time.
Facts & Risks
- 1 in 3 women of Jewish ancestry carries at least one Jewish genetic disease. While being a carrier is common, carriers do not show symptoms. Screening is the only reliable way to determine if an individual is a carrier and which disease is carried.
- 80% of babies with genetic diseases are born to parents with no known family history of that disease. Family history is not a reliable indicator.
- Most women fail to screen prior to pregnancy. The American College of Obstetricians and Gynecologists emphasizes that screening should be done preconception.
- JScreen facilitates and subsidizes genetic screening for women of Jewish ancestry. “Jewish ancestry” means any patient with one or more Jewish parents or grandparents.
Detection rate is the rate at which our test can identify carriers. Our average detection rate is 94%. Many diseases have detection rates of up to 99%. In a small percentage of cases, a follow-up blood enzyme will be needed for clarification of Tay Sachs disease carrier status. No genetic test is 100% accurate. Results take three to four weeks.
JScreen is a not-for-profit program that is part of Emory University School of Medicine’s Department of Human Genetics. With a mission to prevent Jewish genetic diseases, JScreen facilitates and finances genetic screening and genetic counseling. Click here to learn more about JScreen.
How is JScreen different than other Jewish gene screening programs? Does JScreen test for the same genetic diseases as other genetic testing programs? Find answers to these and many others on the FAQ page.