An alliance of individuals and organizations working together to prevent Jewish Genetic Diseases through education, awareness and screening

Genetics and Carrier Screening

All couples with ANY Jewish ancestry, including interfaith couples, should have pre-conception carrier screening for Jewish genetic diseases.

 

Carrier Screening 101-Frequently Asked Questions

What is a carrier of a recessive disease?

Our genes come in pairs, one from each parent. A carrier is an individual who has a mutation in one copy of a particular gene that causes the gene not to function properly. Carriers generally do not develop any symptoms of the disease, but can pass on the gene with a mutation to his or her children.

Many diseases that are common in the Jewish population are inherited in an autosomal recessive pattern. Autosomal recessive diseases are those that develop when both parents are carriers of the same condition and they both pass on their mutations.

While carrier screening generally identifies carriers of recessive diseases, some individuals may discover during the course of carrier screening that they themselves have two mutations and are at-risk for one of the less severe or late-onset diseases on the testing panel.

How is Screening Done?

Carrier screening can be done using a blood or saliva sample. The DNA from the sample is analyzed in certified laboratories and the results usually take less than a month. Many labs also recommend an extra level of screening for Tay-Sachs disease. This enzyme analysis is done in conjunction with DNA testing, and can only be done on a blood sample.

Carrier screening should be ordered and interpreted by a knowledgeable physician or genetic counselor trained to interpret these types of results.

Where can screening be done?

There are several options for where to get tested. The landscape of genetic testing is constantly evolving and it is important that you remain up-to-date with your testing. Therefore, it is recommended that you get tested under the supervision of an experienced professional in the field of reproductive genetics. If you would like to speak with one of our knowledgeable staff members for referrals, please contact us.

JGDC Resources for Genetic Screening 


For which diseases do I need to be tested?

There are many different labs and genetic testing programs that offer carrier screening. Each one is unique and tests for its own panel of diseases. Some are targeted for individuals of Jewish ancestry and some include a broader range of diseases that are common among all ethnicities (pan-ethnic). Ethnic-specific panels tend to include many fewer diseases than pan-ethnic, or expanded, carrier screening panels.

The goal of reproductive carrier screening is to provide important information for couples to use when planning their families. The American College of Obstetricians and Gynecologists states that ethnic-specific, pan-ethnic and expanded carrier screening are all acceptable strategies for pre-pregnancy and prenatal carrier screening. When considering which type of test to do, it is important that you discuss the risks, benefits, and limitations of each type with your provider and then decide which is right for you.

Who should be screened?

Everyone considering having children should be screened. While many diseases are more commonly found in certain ethnic groups, there is still a chance that individuals from different backgrounds might be carriers as well. This means that even interfaith couples and those from mixed ethnic backgrounds should be tested.

In addition, in the early days of genetic testing, the genetic concerns of Sephardi and Mizrahi Jews were not well understood and so there were no standard testing recommendations for individuals from those backgrounds. Nowadays, we know a lot more about these groups and there are many diseases for which testing is warranted in Sephardi and Mizrahi Jews.

In a couple, who is screened first?

At least one member of a couple should be screened. If his or her results are positive, the other member should be screened as well. Some couples will decide to get screened simultaneously so as to avoid waiting between results, especially if they are being tested during a pregnancy. Others will choose to test one at a time.

If one partner is going to get tested first, it is recommended that the female is first as there may be some diseases on the testing panel for which only females are screened. These are called X-linked conditions and some common X-linked conditions are included on many testing panels.

When is the best time to be screened?

That is up to you. We believe that the best time to be screened is before a pregnancy since there are more reproductive options available to you if you are not already pregnant. In addition, we recommend screening before ANY pregnancy, not just your first, as screening panels are often updated. It is important that you make sure your screening is up-to-date

What happens if both my partner and I are carriers of the same condition?

An evaluation with a genetic counselor is recommended for all carrier couples. The genetic counselor will walk you through your results, present options for family planning, and will identify other family members who should consider testing.

There are multiple options which enable ‘carrier couples’ to build healthy families. Each couple comes into this situation with its own unique story, religious views, and ethical beliefs and has a right to make their own informed decisions. Some may decide to involve a third party to help make decisions.

There are two points at which these options exist: prior to a pregnancy and during a pregnancy:

Prior to a pregnancy

A carrier couple may decide to undergo in-vitro fertilization (IVF) with pre-implantation genetic diagnosis (PGD).  In this process, the egg is fertilized outside the body and embryos are tested at a very early stage for the disease(s) carried by the parents. Only unaffected embryos are implanted in the womb.

A carrier couple may decide to use a donor egg or sperm from a donor who is not a carrier of the same condition

A carrier couple might decide to adopt

A carrier couple might decide not to have children

A carrier couple may choose not to continue the relationship

During a pregnancy

A carrier couple may choose to become pregnant and test the fetus early in the pregnancy using prenatal diagnostic testing such as chorionic villus sampling (CVS) or amniocentesis. In the case of an affected fetus, the couple can decide whether to continue the pregnancy. These procedures must be performed by a specially trained OBGYN and carry a small risk of miscarriage.

How much will testing cost? Will my health insurance cover it?

This is a tricky question!  Cost and insurance coverage depends on which lab or genetics program you are using.  Some places will have set out-of-pocket prices and may bill your insurance. Some places will provide free testing at on-site events.  Some places will bill your insurance and charge you the balance.  And some labs will offer financial assistance programs to eligible parties.

Keep in mind that if you first meet with a genetic counselor, most genetics offices will bill your insurance for the office visit in addition to the cost of testing.

The JGDC may be able to help identify resources for carrier screening for those who do not have insurance or need assistance covering costs.

Who will see my results?

The only people who will be given access to your results are you, the doctor who ordered your test, your insurance company (if insurance is billed), and anyone else who you have given explicit permission to access.  There are very strict laws in the United States about maintaining privacy in the realm of health information.

Many people ask if their results will impact their insurance coverage. The Genetic Information Non-Discrimination Acts of 2008 (GINA) protects Americans from being treated unfairly due to their genetic testing results. The law states that health insurers may not deny or limit coverage or charge higher premiums based on a person’s genetic information. In addition, employers may not use genetic information to make decisions about hiring, firing, promotion or job placement.

What other types of genetic testing are there? Can I also learn about my risks for cancer? Will I learn my ancestry?

Nowadays, there are many different types of genetic tests available. While cancer susceptibility and ancestry testing does involve genetic testing, carrier screening for recessive diseases is not the same. It is important that you learn the differences and become aware of what kind of information you may learn from any form of genetic testing before proceeding. You may learn a lot about family and your own health risks that you did not expect. Please note that if you have a personal or family history of cancer, a consultation with a genetic counselor is recommended. You can find a counselor near you with the assistance of the National Society of Genetic Counselors


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IMPORTANT: THIS WEBSITE DOES NOT PROVIDE MEDICAL ADVICE OR GENETIC COUNSELING The information in this brochure is for informational purposes only. It is intended to give the reader a broad overview of the genetic disease screening process and the Jewish genetic diseases for which screening currently is available. This website is not intended to be a substitute for professional medical advice, diagnosis, treatment, or genetic counseling. Your physician or other qualified health care provider can assist you with any questions you may have regarding your personal situation and the Jewish genetic disease screening process. The Jewish Genetic Disease Consortium assumes no liability or responsibility for any opinions, advice, procedures, or results provided by any independent individual or entity with respect to Jewish genetic disease screening Genetic science is a rapidly developing field. The information in this website is subject to update and screening options may change.