Honest answers to some of your most frequently asked questions
Historically, members of individual ethnic groups have tended to have children with other members of the same ethnic group. Because of this, over time, the same genetic conditions have stayed common within those populations.
There are a number of genetic diseases that are more common in individuals with Jewish heritage, be they Ashkenazi, Persian, Sephardic, or Mizrahi Jews. These diseases are usually recessive, meaning that an individual must have two non-working copies of a particular gene to be affected with the condition. Carriers are healthy individuals with one working copy and one non-working copy of a gene; they are indistinguishable from those with two working copies. However, when carriers of the same disease have children together, there is a 25% chance of having an affected child with each pregnancy. This means that a recessive disease gene can be passed down through many generations before a child is born with that disease.
It is important to understand that this has nothing to do with religion. These are ethnic groups, and it is not just Jews that have common recessive conditions. All ethnic groups have certain conditions that are more common within its members. For example, Sickle Cell Disease is more common in individuals of African descent. There are also some genetic conditions, such as Cystic Fibrosis, Spinal Muscular Atrophy, and Fragile X, which are common across many ethnic groups and for which testing should be considered in anyone planning to have children.
Because this is an issue of ethnicity, not religion, even those who were not raised with a Jewish identity or have only one ethnically Jewish grandparent may be carriers for a Jewish Genetic Disease.
You have many options to get carrier screening for Jewish Genetic Diseases. You just need to provide a blood or saliva sample to receive information crucial to building a healthy family. However, because there are many different testing options, being informed is a necessity.
The right test for you depends on your background. For example, if your family is Persian, you are unlikely to be a carrier of a disease that is common in Ashkenazi Jews. If one of your parents is Sephardic and the other is Ashkenazi, you will want to make sure the test includes conditions common in both populations. If you have one or more grandparents who were not ethnically Jewish, a larger pan-ethnic panel may be appropriate.
You can get testing through your primary care doctor or your OB/GYN. You may also wish to see a genetic counselor, particularly if you are concerned about any diseases that you know run in your family.
Another option is home-based testing. This may be directly through a lab, or through a non-profit organization, such as JScreen.org. The process involves requesting a test kit online, which is mailed to you. Then you collect a saliva sample and mail the kit back. This is not direct-to-consumer testing; it is clinical testing, just done from your home. When you request a kit, you provide your physician and insurance information.
First of all, it is important to understand that testing positive is not necessarily a problem. In fact, we are all carriers for several genetic diseases. That’s right – we are all carriers. But being a carrier does not mean we have the disease.
Carriers are not affected with the disease and never will be, but they will always be carriers. They typically show absolutely no sign that they are a carrier, and there is usually no family history of the condition.
But if you’re a carrier for a disease, does that mean if you give birth to a child, that baby will be affected? Most of the time the answer is no. Both you and your partner must be carriers of the same recessive disease to have an affected child. When two people who are both carriers of the same disease have children together, there is a 1 in 4 (25%) chance of each child being affected with the disease.
It’s important to know that even if your partner tests positive as a carrier that does not mean that there is a risk of your child being born with a genetic disease. There are three possible scenarios here: 1) your partner tests positive and you test negative (or the other way around); 2) you and your partner test positive for different recessive conditions; and 3) you both test positive for the same disease.
Let’s take a look at the first scenario. If only one of you is positive, then your child will not be affected. Remember that when someone tests positive, they are not affected by the disease and will not develop any symptoms. They are only carriers.
Now let’s consider the second scenario, in which both of you test positive, though not for the same disease. If you are both carriers for different recessive conditions, there is no risk of your children being affected with one of the disorders, though they may be carriers of one or both. This is why there is peace of mind in knowing your status. Both of you may be carriers of some genetic disorders, but if you’re not carrying the same diseases, it won’t affect the health of your child.
Finally, there’s the third scenario – learning that you are both carriers for the same condition. Does that mean your child will be born with the disease? Here are the odds: When two people who are both carriers of the same recessive disease have children together, there is a 1 in 4 (25%) chance of each child being affected with the disease.
Knowledge is power. And thanks to medical advances, there are more reproductive options than ever to put the odds on your side.
When it comes to Jewish genetic diseases, some people would rather not know their carrier status. But the truth is, the sooner you know your status, the more reproductive options you will have.
As we’ve discussed previously in the series, if both you and your partner are carriers for the same genetic disorder, there will be a 1 in 4 (25%) chance of each of your children being affected by the disease.
Then what? Should you not have children? Do you go ahead and get pregnant and keep your fingers crossed? It’s understandable that you would be confused about how to proceed. You should know, though, that there are reproductive options available to you. These options fall into two categories – prevention before pregnancy and diagnosis during pregnancy.
• In-vitro fertilization (IVF) with preimplantation genetic diagnosis (PGD): This method uses the couple’s own eggs and sperm to create embryos. The embryos are tested for the disease, and only unaffected ones are implanted.
• Use of donor egg or sperm from a non-carrier donor
Diagnosis during pregnancy options:
• Genetic testing using chorionic villus sampling (CVS) or amniocentesis
• If the fetus tests positive for the disease, parents may choose to use the information to prepare for the birth of an affected child or terminate the pregnancy
It is possible to have a healthy baby. And knowing your carrier status is the first step in ensuring the health of your future family.
As long as you are over 18 years old, you can be screened for Jewish genetic diseases, but the right time to actually do the test is a very personal choice. For example, you may be single and want to know your results before pursuing a new relationship. Perhaps you’re in a relationship, but want to know your status before you start getting more serious. Or you may want to wait until you’re in a committed relationship and thinking of having children.
Despite your personal motivations for testing, the best time to be screened is before pregnancy. This way, if both partners find out they are carriers of the same disease, they will have time to learn more about the disease and make informed decisions as they plan their life together.
Jewish couples planning on having children. If you are Jewish and planning on having children, you should get screened for Jewish genetic diseases. That’s because there are a number of genetic diseases that are more common in individuals with Jewish heritage, be they Ashkenazi, Persian, Sephardic, or Mizrahi Jews. When both partners are carriers of the same disease, there is a 25% chance of having an affected child with each pregnancy.
Interfaith couples planning on having children. For interfaith couples, if the Jewish partner is found to be a carrier for a genetic disease, then the non-Jewish partner should also be screened for the same disease.The genetic diseases that are more common among Jews are not confined to this population. These diseases are found in other ethnic groups as well.
Couples in which one or both partners are adopted. Those who are adopted and unsure of their ancestry should be screened for genetic diseases before having children.
Couples who have already have healthy children but intend on having more. Individuals of Jewish ancestry who already have healthy children despite not being tested previously should consider screening if they are planning on having more children in the future.
Anyone of Jewish ancestry. Sometimes, people who have no intention of becoming pregnant will also get tested to determine if a gene runs in the family. If a person is a carrier, whether they have decided to have children or not, it is important that they share this information with relatives and encourage them to be screened as well. In this way families can work together to help inform members if there is a risk for certain genetic diseases running in the family.
There are two ways to screen for carriers of Jewish genetic diseases: blood testing and saliva testing. Both methods are viable and comprehensive options for carrier screening.
Blood testing. Most people are familiar with blood tests — a small amount of blood is drawn from your arm, and the sample is sent to a laboratory for analysis. Carrier screening through a blood sample can be done at a physician’s office or a medically supervised screening event.
Saliva testing. Saliva testing requires the individual to spit into a tube, and the saliva sample is then sent to a laboratory for analysis. Saliva testing can be done at a physician’s office, at a medically supervised screening event, or at home with a carrier screening kit.
Both are viable. From both types of samples, blood and saliva, the laboratory is able to extract DNA for genetic analysis. We have the same DNA in every cell in our body, therefore, the accuracy is the same for both methods.
Both mothers and fathers can be carriers for genetic diseases, and it is important for both partners to be aware of their risks. It is often prospective mothers who first become aware of the issue and seek genetic screening. However, it is equally important for prospective fathers to be informed and seek genetic screening. If both partners are carriers of the same genetic disease, there is a 1 in 4 or 25% chance with each pregnancy of having a child with the disease.
Carrier screening can be beneficial not just for the couple but also for each of their families. Knowing your carrier status can provide valuable information for relatives, because this means that they are at risk for being a carrier of the same disease. This is important information to pass on to siblings and cousins, especially those who are also in the stage of starting a family and having children.
While it is important for prospective mothers and fathers of Jewish descent – whether Ashkenazi, Mizrahi, Sephardic or Persian — to seek out genetic counseling and screening, those in interfaith relationships and in the general population can be carriers as well.
Our genes are the basis of what connects us to our family members. We all inherit family traits because genes are passed down from generation to generation. Some genes that we inherit, however, can be responsible for causing or increasing risk for certain diseases. That is why it’s so important to be aware of your family history and take note of any traits that may put you or your relatives at risk.
Understandably, it can be difficult to talk about genetic diseases with family members. These conversations can be sensitive topics that can bring up difficult memories and, therefore, can be difficult to discuss. In addition, there is often limited health information available for older generations.
One way to start the process is by building a family tree and interviewing family members to collect information. Collect information on yourself, your parents, your siblings, your grandparents, and extended family. Be sure to be sensitive when asking about medical issues any individuals may have had, or how certain family members passed away, and explain to family members that this is an important part of the family health history. Once you create a record of your family history you can share it with other relatives as well as your healthcare providers to better inform your care. As a bonus, you’ll have a family tree that many generations can treasure and use to benefit their own healthcare.
Anyone can be a carrier for one or more genetic diseases, and it is important for both partners in a relationship to be aware of their carrier status. We are all carriers for certain genetic conditions. Most of the time, this is not a problem – a carrier will not develop the disease. The risk of having an affected child arises only when both partners are carriers of the same disease. If both partners are carriers of the same genetic disease, there is a 1 in 4 or 25% chance with each pregnancy of having a child with the disease. That’s why it’s crucial for both partners to be tested.
What if the couple is interfaith? It’s still important for both partners to be tested because the genetic diseases that are more common among Jewish individuals are not confined to this population. These diseases are found in other ethnic groups as well.
There may be instances where one partner knows that he or she is a carrier of a certain disease. It is important to share this information and discuss it openly both in the relationship and with healthcare providers in order to ensure that the right tests are ordered for the other partner. Furthermore, providers – like genetic counselors – can help inform and educate the couple about the process and the options that are available to them.
Remember, there is no reason to fear this information. Knowledge is power. Knowing both your and your partner’s carrier status will provide you more information and options for having a healthy baby.
When people hear the term “genetic testing,” they often think of Direct-To-Consumer (DTC) genetic testing, which they can order themselves on sites such as ancestry.com or 23andme.com. DTC genetic testing can give you information about your health, ethnic background, and even track down distant relatives. These tests can give a person information about potential susceptibilities or sensitivities, but when interpreted without information about that person’s health history, lifestyle, and family history, these results can be very limited. Information from DTC genetic tests are only a small piece of the puzzle.
Genetic carrier screening is different. Carrier screening looks at specific genes that are known to be associated with specific disease. They test to see if you are a carrier for a genetic condition that can be passed down to future generations. This type of testing cannot be ordered without a healthcare provider. Generally, the diseases tested for are recessive conditions, meaning a carrier of the disease does not show any symptoms. If both you and your partner are carriers for the same genetic disorder, there is a 1 in 4 (25%) with each pregnancy that the child could be affected with the disease. Therefore, carrier screening usually doesn’t give you information about your own health, but about reproductive risks, or risk that may exist when you decide to have children.
Some DTC tests also provide information about carrier status in their results report, which tells you if you are a carrier for certain genetic conditions. So if you’ve already had an ancestry test, do you need to get genetic carrier screening? YES! DTC tests are not as comprehensive or accurate as the type of genetic testing ordered by a healthcare provider. For example, it is possible that someone is a carrier of a condition that’s not included in the DTC test. It is also possible that someone’s results are inaccurate (i.e. testing says they are negative but they are positive or vice versa).
Just because you may have had a limited carrier report included in an ancestry test does not necessarily mean that you were screened for all the conditions common in your ethnic background. For this reason, it is important to know what type of testing you had done and speak with a healthcare provider to ensure that you get the appropriate carrier screening.
Many people fear that if they have genetic testing and it reveals that they are carriers for certain genetic conditions, they could face discrimination by their employer or a health insurance company. This fear is a common — and understandable — concern that keeps people from having genetic testing. However, several federal and state laws protect people from this form of discrimination. In particular, a federal law called the Genetic Information Nondiscrimination Act (GINA) that addresses employment and health insurance discrimination based on an individual’s genetic information. GINA makes it illegal for employers to use genetic information when making decisions about hiring, termination, or promotions. And it makes it illegal for health insurance companies to use or require genetic information when making decisions about a person’s insurance eligibility or premium. But keep in mind that the law does not address discrimination for life insurance, disability insurance or long-term care insurance. (For more information about GINA, visit ginahelp.org.)
This questions brings up a larger issue: who has access to your genetic test results? Companies who conduct genetic testing have privacy protocols in place so your information is secure. All data is stripped of names and identifying characteristics to make it anonymous. Consult your healthcare provider if you have any concerns about your privacy and how your sample or information could be used in the future, once genetic testing is complete.
Absolutely. When both parents are a carrier for the same genetic condition, there is a 25% chance that they will have a child with that genetic condition, and there is a 75% probability that they will have a healthy child. Therefore, having one healthy child, without a genetic disease, does not mean that a risk does not exist for subsequent children. There is a 1 in 4 (25%) chance of passing on the condition to a child with each pregnancy. That’s why, if you’re planning on having more children, you should have carrier screening.
For couples with any degree of shared Jewish ancestry, meaning a couple where both partners are Ashkenazi or Persian or Mizrahi screening for conditions specific to your Jewish heritage is imperative. A simple saliva or blood test can screen for more than 200 diseases, including those more common to Jews as well as diseases that are common across ethnicities.
Thanks to medical advances, should the testing indicate a risk of disease, you now have many options to have a healthy baby. It may be tempting to just cross your fingers and hope that all turns out well again for the next child, but knowledge is power. Knowing both your and your partner’s carrier status will empower you with information to make informed decisions — and even peace of mind.
Does it make sense for seniors — or, for that matter, anyone not planning on having any more children — to have genetic carrier screening? Actually, yes. Since we share our genes with our relatives, their test results can help inform their children, grandchildren, and other relatives about the family genetics and possible implications. Think of it this way: when a couple is planning on having children, doctors and genetic counselors ask about the health history of the couple’s families, including any health issues, early deaths or genetic diseases. This comprehensive family history assessment is key to determining risk within a family and what conditions or genes they should be tested for. So, when seniors can provide more detailed information about their own genetic profiles, the whole family benefits! Genetic screening has come a long way, especially in recent years, and most seniors probably did not have the opportunity to have genetic testing when they were younger.
Direct-To-Consumer (DTC) genetic testing has become very popular, as it provides interesting information about ethnic background and can even track down distant relatives. Some DTC tests also provide information about carrier status in their results report, which tells you if you are a carrier for certain genetic conditions. Before assuming you do not need more testing, it’s important to find out if the test is comprehensive and accurate. For example, it is possible that someone is a carrier of a condition that’s not included in the DTC test. It is also possible that someone’s results are inaccurate (i.e. testing says they are negative but they are positive or vice versa) because technology used in DTC testing is different from the technology used in clinical genetic testing where a healthcare provider must order the test.
Just because you may have had a carrier report included in an ancestry test does not necessarily mean that you were screened for all the conditions common in your ethnic background. For this reason, it is important to know what type of testing you had done and speak with a healthcare provider to ensure that you get the appropriate carrier screening.
DTC testing companies specifically state that their test is not to be used for making medical decisions. Decisions regarding your health should only be made based on a clinical test ordered by a healthcare provider such as a physician or genetic counselor. If you have questions about any ancestry test you may have already taken, as well as what is the right test for you, consult your primary care doctor, your OB-GYN, or a genetic counselor.
Although teens may be years away from getting married and having children, making the decision to take responsibility for their health information is an important one to discuss.
Furthermore, as genetic testing has become a part of the daily conversation in the media, especially with the prevalence of direct to consumer (DTC) testing, it is essential that the next generation be well informed about carrier screening. A recent study by the Cincinnati Children’s Medical Center found that 83% of teens would actually prefer to know the results of their genetic tests, as they would be better able to plan their relationship and reproductive choices. So definitely — talk to your teens about screening.
Remember, knowledge is power, and genetic testing allows you to take responsibility for your health decisions. If you learn that you are not a carrier for one of the diseases that are common in your ethnic background, be it Sephardic, Ashkenazi, Mizrahi or Persian, then you can have peace of mind knowing this information. If you learn that you are a carrier, then the screening results will be helpful when you decide to have children, as you and your future partner can make informed decisions.
Even if you don’t intend on having a baby in the near future, you can still be a big help to those family members who are in the planning stages. If you have had genetic testing, sharing your results with your relatives will give your relatives important information about your family’s genetic makeup and it will start the conversation about the role of genetics in family planning. Knowledge is power and you can lead by example.
What you learn from your genetic screening can inform siblings, cousins, aunts and uncles, adult children — anyone in your family— about what genetic risks exist in your family and if there is anything they need to be aware of as they think about having children. It is important to remember, unless you are identical twins, each individual in a family will have different genetic makeup. Some relatives may share certain traits or be carriers for the same condiditon, while others might not. Either way, sharing results and genetic information with relatives will provide a crucial guidepost for them.
It’s understandable to feel apprehensive about proceeding with genetic testing. Information that can impact the course of family planning can be scary, as there are so many questions and “what ifs.” Sometimes it might feel easier just not to know.
But it’s important to remember that getting screened and having this information can also be empowering or even reassuring. Knowing your carrier status before you’re pregnant might inform you that you and your partner are NOT at risk for having a child with a genetic condition. Or, if you are, it will allow you to make informed decisions about how the two of you would like to manage that risk. Thanks to medical advances, should the testing indicate a risk of disease, prospective parents now have many options to have a healthy baby. A genetic counselor can educate you about the various options and help guide and support your decision-making process.
People who are adopted are increasingly having Direct-to-Consumer DNA tests like 23andMe to help them learn more about their ancestry and even connect with relatives. But one type of test that is even more crucial is genetic carrier screening, i.e. a clinical grade genetic test that would be ordered by a healthcare provider.
When you’re adopted, you most likely do not know anything about your family’s health history, e.g., if there were individuals with certain genetic conditions or other health risk factors. Because of this it is even more difficult to assess risks when family planning and can make carrier screening that much more essential. Remember, being a carrier does not mean you have the condition, or that your child will inherit the condition. It’s only if your partner is a carrier for the same condition that your child will have a one in four (25%) chance of being born with it.
For an interfaith couple in which one person is Jewish and the partner is not, there is sometimes a misconception that they don’t need genetic screening because they come from different ethnic backgrounds. This is absolutely not true.
Sometimes certain conditions are more common in certain populations due to that population being isolated and insular, historically; however this does not mean that these same diseases don’t exist across ethnic groups. There are a number of conditions that are more common in individuals of Jewish ancestry, but we can see these same diseases in other communities as well. For this reason, carrier screening is important for all couples, regardless of the ethnicities of the partners. A simple blood or saliva test can screen for more than 200 diseases, which includes conditions that are more common in the Jewish community as well as across ethnic groups.
If you are in an interfaith relationship and planning on having children, it’s crucial that you and your partner get screened. Knowledge is power, and the results of your genetic screening can help guide your family planning.
Same sex couples, whether male or female, who are planning on having children through an egg/sperm donor should strongly consider carrier screening. Egg and sperm donors typically undergo rigorous medical testing, which includes carrier screening, however one should always confirm that this was done prior to proceeding.
Many questions may come up during this time. For example, what if their preferred donor is a carrier for a genetic condition? What if one of the parties has a history of a particular disease in the family? For this reason, it is always helpful to speak to a genetic counselor who can help navigate these difficult questions and considerations as well as provide anticipatory guidance for various stages in the process.
All ethnic groups have certain genetic conditions that occur at a higher frequency or are more common within their community. This occurs because, historically, members of individual ethnic groups tended to marry and start families with other members of the same ethnic group. Communities were isolated in the past, whether it was due to culture or geographic isolation. Therefore, over time, particular genetic conditions became more prevalent within a particular isolated or insular community.
• There are a number of conditions that are more common in individuals of Jewish ancestry, but we can see these same diseases in other communities as well. Most commonly people think of Tay-Sachs and its prevalence in the Ashkenazi Jewish community, however this condition is also common in people of French Canadian ancestry. For this reason, carrier screening is important for all couples, regardless of the ethnicities of the partners.
• There are some genetic conditions, such as Cystic Fibrosis, Spinal Muscular Atrophy, and Fragile X, which are common across all those of European Ancestry ethnic groups.
Newborn screening is an “opt-out” (meaning it is performed unless otherwise specified by parents) state-run program for newborn babies at the time of birth. Most parents remember this heel prick that is done in the hospital. This test screens for a select number of genetic health conditions that can pose serious health problems and for which there are available treatments. This allows intervention to occur as soon as possible for those with these diseases and helps prevent major illness. Newborn screening is considered a screening test, therefore confirmatory testing is always required if anything is identified on a newborn screen.
Genetic carrier screening is performed on the parents before the child is born, ideally before conception. This test identifies if either parent is a carrier for genetic conditions; remember this does not mean that parent has the illness but does have a risk of having a child with that disease.
Newborn screening is essential, but carrier screening — before conception — is the first step towards planning a healthy family.