Carrier Screening for Rare Diseases<\/h1><\/div>Find Out the Chances of Having a Baby with a Rare Disease.<\/p>\n<\/div><\/div><\/div><\/div><\/div>
<\/i><\/span>If you\u2019re thinking about starting a family or if a relative has a rare disease, you are encouraged to consider carrier screening.
\n<\/b><\/p><\/span><\/div><\/div><\/div><\/div>Skip to any section using the links below:<\/p>\n<\/div>
<\/div><\/div>- <\/i><\/span>\n
What is Carrier Screening?<\/b><\/a><\/p>\n<\/div><\/li>- <\/i><\/span>\n
Why is Carrier Screening Important?<\/a><\/b><\/p>\n<\/div><\/li>- <\/i><\/span>\n
Anybody can be a Carrier<\/a><\/b><\/p>\n<\/div><\/li>- <\/i><\/span>\n
Prevalence of Tay-Sachs Disease<\/a><\/b><\/p>\n<\/div><\/li>- <\/i><\/span>\n
Family Connection<\/a><\/b><\/p>\n<\/div><\/li>- <\/i><\/span>\n
How to Start the Carrier Screening Process<\/a><\/b><\/p>\n<\/div><\/li>- <\/i><\/span>\n
How to Find a Genetic Counselor<\/a><\/b><\/p>\n<\/div><\/li>- <\/i><\/span>\n
Frequently Asked Questions<\/a><\/b><\/p>\n<\/div><\/li><\/ul><\/div><\/div><\/div>What is Carrier Screening?<\/h3>\n
Carrier testing is a type of genetic testing done to find out if you carry a change in a gene that can cause a specific genetic disease. Most often, being a carrier for one of these changes does not mean that you have the genetic disease yourself, but that you may have a chance to pass it on to a child. <\/p>\n
Depending on the type of carrier screening, the test could use a sample of blood, saliva, or tissue from inside the cheek. <\/p>\n
For Tay-Sachs carrier screening specifically, current data supports the use of a test called gene sequencing to identify whether an individual is a carrier. To learn more about this data and other kinds of screening tests, check out NTSAD’s 2019 position statement here.<\/a> <\/p>\n<\/div><\/div>Why is Carrier Screening Important?<\/h3>\n
It\u2019s possible to carry a change in a gene for a genetic disease without any signs or symptoms.<\/p>\n
When carrier screening is done before pregnancy, it helps you determine the chances of having a child with a rare genetic disease.<\/p>\n<\/div><\/div><\/div>
![](\"https:\/\/ntsad.org\/wp-content\/uploads\/2022\/07\/transmission_of_autosomal_recessive_traits.jpg\" "\\"transmission_of_autosomal_recessive_traits\\"")
<\/span><\/div><\/div><\/div><\/div><\/div>Anybody Can Be a Carrier<\/h3><\/div>Every person carries two copies of each gene in their body, one inherited from each parent. Tay-Sachs, Canavan, GM1, and Sandhoff diseases are autosomal recessive diseases. This means that a person must inherit two changes in the gene that causes the disease, one in each of their gene copies. Therefore, both parents must carry a change in the same gene to have a chance of both passing on those changes to an affected child.<\/p>\n
If you and your partner are carriers for the same recessive disease, there\u2019s a 25% chance that your child will be affected with the disease\u2014even if you already have a child who is unaffected. If one or both parents are a carrier of a recessive disease, there is a 50% chance that your child will also be a carrier.<\/p>\n
According to the National Institutes of Health (NIH), the carrier rates among the general United States population are:<\/p>\n
\n- Tay-Sachs: 1 in 250 people<\/li>\n
- Canavan: 1 in 300 people<\/li>\n
- GM1: 1 in 250 people<\/li>\n
- Sandhoff: 1 in 600 people<\/li>\n<\/ul>\n<\/div><\/div>
Prevalence of Tay-Sachs Disease<\/h3><\/div>While anybody could be a carrier of Tay-Sachs, there is a higher prevalence of the disease among some populations.<\/p>\n
About 1 in 27 people of Ashkenazi Jewish descent is a carrier of Tay-Sachs disease. If you have Ashkenazi heritage, it\u2019s a good idea to be screened, even if your partner is not Jewish.<\/p>\n
People of Irish, Cajun, French Canadian, and Pennsylvania Dutch heritage also experience higher levels of Tay-Sachs disease in their populations.<\/p>\n<\/div>
<\/div>Family Connection<\/h3><\/div>If someone in your family or your partner\u2019s family has Tay-Sachs, Canavan, GM1, or Sandhoff disease, you may consider undergoing carrier screening.<\/p>\n
There are several different types of carrier tests that are available. <\/p>\n
If you have a specific family history of a genetic disease, you may be offered a targeted test to determine whether you are a carrier for that disease. <\/p>\n
Expanded carrier screening is another kind of carrier test. It tests whether you are a carrier for many different genetic diseases, especially diseases where it is more common in the general population to be a carrier. <\/p>\n
You may also hear about whole exome sequencing. This is a test that looks at all the genes in your body to see whether you carry any changes.<\/p>\n
By the same token, if carrier screening shows that you or your partner are carriers of a rare disease, it is recommended to share this information with blood relatives, so they can decide if they wish to be tested.<\/p>\n
Your genetic counselor or clinician can help to provide you with resources for sharing this information about your test results with blood relatives.<\/p>\n<\/div>
<\/div>How to Start the Carrier Screening Process<\/h3><\/div>If you\u2019re interested in genetic carrier screening, you can mention it during an appointment with your healthcare provider or OB-GYN. Be sure to discuss your family history, any genetic disease in your family, and your ancestry. Your clinician or OB-GYN will be able to order carrier screening tests for you and your partner.<\/p>\n
You can also ask them about a referral for an appointment with a genetic counselor or locate a genetic counselor directly (see below), who will collect your family history information and help order carrier screening.<\/p>\n
Contact your health insurance company to ask:<\/p>\n
\n- If it covers carrier screening<\/li>\n
- If you need a clinician referral for a genetic counselor<\/li>\n<\/ul>\n<\/div><\/div>
How to Find a Genetic Counselor<\/h3><\/div>A genetic counselor may collect your medical and family history, discuss your personal risks for genetic disease, and provide you with more information about carrier screening or other kinds of genetic tests. They will guide you through deciding about testing, help you understand the results, explain the options and resources available to you, and support you as you decide what to do next.<\/p>\n
Depending on your health insurance, you may need a referral for a genetic counselor or you may be able to contact a genetic counselor directly.<\/p>\n
Some genetic counselors support clients in person and others can provide their services virtually.<\/p>\n
You can use the National Society of Genetic Counselors<\/a><\/u><\/b> (NSGC) directory to find a genetic counselor in the United States.<\/p>\n<\/div><\/div>Frequently Asked Questions<\/h3><\/div>You are encouraged to talk to your healthcare provider or OB-GYN about carrier screening if you\u2019re thinking about starting a family or if someone in your family has Tay-Sachs, Canavan, GM1, or Sandhoff disease.<\/p>\n
For more information, please see our FAQ below or email Becky Benson (becky@ntsad.org<\/a><\/b><\/u>), Family Services Manager or Diana Jussila (diana@ntsad.org<\/a><\/b><\/u>), Director of Family Services.<\/p>\n<\/div>General Topics<\/h4><\/div><\/div><\/div><\/i><\/i><\/span>My partner isn\u2019t Ashkenazi Jewish. Should we still have carrier screening?<\/span><\/a><\/h4><\/div>\nYes. Anybody could be a carrier. Even if your partner is not Jewish it is still possible that you are both carriers for the same recessive condition. Discuss screening options with your healthcare provider or genetics professional (geneticist or genetic counselor) to determine the best screening method for you and your partner.<\/p>\n<\/div><\/div><\/div>
<\/i><\/i><\/span>I\u2019ve heard carrier screening can be done at home. Is that true?<\/span><\/a><\/h4><\/div>\nIt\u2019s important for you to speak with a genetics professional prior to having carrier screening. Through some programs, a saliva sample can be collected at home and sent to a laboratory for analysis. Saliva testing does not include Tay-Sachs enzyme analysis, but may provide sequencing of multiple genes.<\/p>\n<\/div><\/div><\/div>
<\/i><\/i><\/span>If I already have a healthy child, do I still need to have carrier screening?<\/span><\/a><\/h4><\/div>Yes. If you and your partner are carriers for the same recessive disease, there is a 25% chance with each pregnancy that your child will be affected with the disease as well as a 75% chance of having an unaffected child. Two carrier parents could have several healthy children before having an affected child.<\/div><\/div><\/div><\/i><\/i><\/span>Where can I get carrier screening?<\/span><\/a><\/h4><\/div>\nIt is best to talk with your healthcare provider or make an appointment with your genetics professional to discuss your interest in carrier screening. Each of these medical professionals can explain the screening, submit an order, and interpret the results for you.<\/p>\n<\/div><\/div><\/div>
<\/i><\/i><\/span>Why are natural history studies and the Patient Insights Networks (PIN) important to clinical trials?<\/span><\/a><\/h4><\/div>Natural history studies document the progression of the disease. The more data there is about the progression of the disease from medical data and patient experience, the clearer the endpoints are to determine whether a therapy is working or not. The PIN is a format to help families contribute this information. Therefore, participating in the PIN and natural history studies is important and critical.<\/p>\nJoin the GM2 Tay-Sachs & Sandhoff PIN here<\/strong><\/u><\/a> or the GM1 PIN here<\/strong><\/u><\/a> as soon as you can!<\/div><\/div><\/div><\/i><\/i><\/span>Why do patients have to meet certain criteria to be accepted into the trial?<\/span><\/a><\/h4><\/div>Inclusion criteria are necessary for a successful clinical trial. Inclusion criteria also help minimize risk in a clinical trial and ensure the proposed therapy is safe and effective. Having a successful trial in which risks are minimized and success of the therapy can be shown is important to allow therapies to continue in future trials and to lead to eventual approval.<\/div><\/div><\/div><\/div><\/div>Tay-Sachs Disease<\/h4><\/div><\/div><\/div><\/i><\/i><\/span>I\u2019m concerned that I may be a carrier for Tay-Sachs disease. What type of carrier screening will offer the most accurate results?<\/span><\/a><\/h4><\/div>\nCurrent data supports the use of gene sequencing for Tay-Sachs carrier screening in individuals of all ethnic backgrounds. Enzyme testing is also considered to be another reliable method of carrier screening for Tay-Sachs.<\/p>\n
To learn more about these recommendations, please reference the NTSAD 2019 position statement on Standards for Tay-Sachs Carrier Screening, found here.<\/a><\/p>\nSome labs also offer expanded carrier screening panels with many conditions. Discuss your interest in carrier screening with your genetics professional to determine which testing is best suited for you.<\/p>\n<\/div><\/div><\/div>
<\/i><\/i><\/span>Only one of my grandparents is Jewish. Do I still need carrier screening for Tay-Sachs disease?<\/span><\/a><\/h4><\/div>\nYes. It\u2019s important to remember that anyone could be a carrier for Tay-Sachs disease. You are at risk of being a carrier of a Jewish mutation based on your Jewish ancestry. Individuals of Irish, Cajun, French Canadian, and Pennsylvania Dutch descent are also at increased risk of having a Tay-Sachs disease mutation. It may be a good idea for you to have an expanded panel that includes screening for other recessive conditions. Discuss your options with your genetics professional prior to testing.<\/p>\n<\/div><\/div><\/div>
<\/i><\/i><\/span>I\u2019m pregnant and I just found out that I have a family history of Tay-Sachs disease. Can I get carrier screening while I\u2019m pregnant?<\/span><\/a><\/h4><\/div>Yes, you can get carrier screening for Tay-Sachs disease while pregnant. When women are pregnant or taking birth control pills, detection is best using leukocytes. Make sure that the genetics professional ordering your carrier screening knows that you are pregnant so that the correct testing is ordered. The father of the pregnancy can also pursue carrier screening to determine if he is a carrier. If the father is not found to be a carrier, your baby is at very low risk for Tay-Sachs disease. If he is carrier, you can consider doing an amniocentesis or chorionic villus sampling (CVS). These are diagnostic tests that will be able to tell you if your current pregnancy is affected with Tay-Sachs disease or is unaffected. Speak with your obstetrician or genetics professional about this testing.<\/p>\nFor more information, visit Family Planning<\/u><\/a><\/b>.<\/p>\n<\/div><\/div><\/div>
Find Out the Chances of Having a Baby with a Rare Disease.<\/p>\n<\/div><\/div><\/div><\/div><\/div>
If you\u2019re thinking about starting a family or if a relative has a rare disease, you are encouraged to consider carrier screening. Skip to any section using the links below:<\/p>\n<\/div> What is Carrier Screening?<\/b><\/a><\/p>\n<\/div><\/li> Why is Carrier Screening Important?<\/a><\/b><\/p>\n<\/div><\/li> Anybody can be a Carrier<\/a><\/b><\/p>\n<\/div><\/li> Prevalence of Tay-Sachs Disease<\/a><\/b><\/p>\n<\/div><\/li> Family Connection<\/a><\/b><\/p>\n<\/div><\/li> How to Start the Carrier Screening Process<\/a><\/b><\/p>\n<\/div><\/li> How to Find a Genetic Counselor<\/a><\/b><\/p>\n<\/div><\/li> Frequently Asked Questions<\/a><\/b><\/p>\n<\/div><\/li><\/ul><\/div><\/div> Carrier testing is a type of genetic testing done to find out if you carry a change in a gene that can cause a specific genetic disease. Most often, being a carrier for one of these changes does not mean that you have the genetic disease yourself, but that you may have a chance to pass it on to a child. <\/p>\n Depending on the type of carrier screening, the test could use a sample of blood, saliva, or tissue from inside the cheek. <\/p>\n For Tay-Sachs carrier screening specifically, current data supports the use of a test called gene sequencing to identify whether an individual is a carrier. To learn more about this data and other kinds of screening tests, check out NTSAD’s 2019 position statement here.<\/a> <\/p>\n<\/div> It\u2019s possible to carry a change in a gene for a genetic disease without any signs or symptoms.<\/p>\n When carrier screening is done before pregnancy, it helps you determine the chances of having a child with a rare genetic disease.<\/p>\n<\/div><\/div><\/div> Every person carries two copies of each gene in their body, one inherited from each parent. Tay-Sachs, Canavan, GM1, and Sandhoff diseases are autosomal recessive diseases. This means that a person must inherit two changes in the gene that causes the disease, one in each of their gene copies. Therefore, both parents must carry a change in the same gene to have a chance of both passing on those changes to an affected child.<\/p>\n If you and your partner are carriers for the same recessive disease, there\u2019s a 25% chance that your child will be affected with the disease\u2014even if you already have a child who is unaffected. If one or both parents are a carrier of a recessive disease, there is a 50% chance that your child will also be a carrier.<\/p>\n According to the National Institutes of Health (NIH), the carrier rates among the general United States population are:<\/p>\n While anybody could be a carrier of Tay-Sachs, there is a higher prevalence of the disease among some populations.<\/p>\n About 1 in 27 people of Ashkenazi Jewish descent is a carrier of Tay-Sachs disease. If you have Ashkenazi heritage, it\u2019s a good idea to be screened, even if your partner is not Jewish.<\/p>\n People of Irish, Cajun, French Canadian, and Pennsylvania Dutch heritage also experience higher levels of Tay-Sachs disease in their populations.<\/p>\n<\/div> If someone in your family or your partner\u2019s family has Tay-Sachs, Canavan, GM1, or Sandhoff disease, you may consider undergoing carrier screening.<\/p>\n There are several different types of carrier tests that are available. <\/p>\n If you have a specific family history of a genetic disease, you may be offered a targeted test to determine whether you are a carrier for that disease. <\/p>\n Expanded carrier screening is another kind of carrier test. It tests whether you are a carrier for many different genetic diseases, especially diseases where it is more common in the general population to be a carrier. <\/p>\n You may also hear about whole exome sequencing. This is a test that looks at all the genes in your body to see whether you carry any changes.<\/p>\n By the same token, if carrier screening shows that you or your partner are carriers of a rare disease, it is recommended to share this information with blood relatives, so they can decide if they wish to be tested.<\/p>\n Your genetic counselor or clinician can help to provide you with resources for sharing this information about your test results with blood relatives.<\/p>\n<\/div> If you\u2019re interested in genetic carrier screening, you can mention it during an appointment with your healthcare provider or OB-GYN. Be sure to discuss your family history, any genetic disease in your family, and your ancestry. Your clinician or OB-GYN will be able to order carrier screening tests for you and your partner.<\/p>\n You can also ask them about a referral for an appointment with a genetic counselor or locate a genetic counselor directly (see below), who will collect your family history information and help order carrier screening.<\/p>\n Contact your health insurance company to ask:<\/p>\n A genetic counselor may collect your medical and family history, discuss your personal risks for genetic disease, and provide you with more information about carrier screening or other kinds of genetic tests. They will guide you through deciding about testing, help you understand the results, explain the options and resources available to you, and support you as you decide what to do next.<\/p>\n Depending on your health insurance, you may need a referral for a genetic counselor or you may be able to contact a genetic counselor directly.<\/p>\n Some genetic counselors support clients in person and others can provide their services virtually.<\/p>\n You can use the National Society of Genetic Counselors<\/a><\/u><\/b> (NSGC) directory to find a genetic counselor in the United States.<\/p>\n<\/div> You are encouraged to talk to your healthcare provider or OB-GYN about carrier screening if you\u2019re thinking about starting a family or if someone in your family has Tay-Sachs, Canavan, GM1, or Sandhoff disease.<\/p>\n For more information, please see our FAQ below or email Becky Benson (becky@ntsad.org<\/a><\/b><\/u>), Family Services Manager or Diana Jussila (diana@ntsad.org<\/a><\/b><\/u>), Director of Family Services.<\/p>\n<\/div> Yes. Anybody could be a carrier. Even if your partner is not Jewish it is still possible that you are both carriers for the same recessive condition. Discuss screening options with your healthcare provider or genetics professional (geneticist or genetic counselor) to determine the best screening method for you and your partner.<\/p>\n<\/div><\/div><\/div> It\u2019s important for you to speak with a genetics professional prior to having carrier screening. Through some programs, a saliva sample can be collected at home and sent to a laboratory for analysis. Saliva testing does not include Tay-Sachs enzyme analysis, but may provide sequencing of multiple genes.<\/p>\n<\/div><\/div><\/div> It is best to talk with your healthcare provider or make an appointment with your genetics professional to discuss your interest in carrier screening. Each of these medical professionals can explain the screening, submit an order, and interpret the results for you.<\/p>\n<\/div><\/div><\/div> Join the GM2 Tay-Sachs & Sandhoff PIN here<\/strong><\/u><\/a> or the GM1 PIN here<\/strong><\/u><\/a> as soon as you can!<\/div><\/div><\/div> Current data supports the use of gene sequencing for Tay-Sachs carrier screening in individuals of all ethnic backgrounds. Enzyme testing is also considered to be another reliable method of carrier screening for Tay-Sachs.<\/p>\n To learn more about these recommendations, please reference the NTSAD 2019 position statement on Standards for Tay-Sachs Carrier Screening, found here.<\/a><\/p>\n Some labs also offer expanded carrier screening panels with many conditions. Discuss your interest in carrier screening with your genetics professional to determine which testing is best suited for you.<\/p>\n<\/div><\/div><\/div> Yes. It\u2019s important to remember that anyone could be a carrier for Tay-Sachs disease. You are at risk of being a carrier of a Jewish mutation based on your Jewish ancestry. Individuals of Irish, Cajun, French Canadian, and Pennsylvania Dutch descent are also at increased risk of having a Tay-Sachs disease mutation. It may be a good idea for you to have an expanded panel that includes screening for other recessive conditions. Discuss your options with your genetics professional prior to testing.<\/p>\n<\/div><\/div><\/div> For more information, visit Family Planning<\/u><\/a><\/b>.<\/p>\n<\/div><\/div><\/div>
\n<\/b><\/p><\/span><\/div><\/div><\/div><\/div>What is Carrier Screening?<\/h3>\n
Why is Carrier Screening Important?<\/h3>\n
<\/span><\/div><\/div><\/div><\/div>Anybody Can Be a Carrier<\/h3><\/div>
\n
Prevalence of Tay-Sachs Disease<\/h3><\/div>
Family Connection<\/h3><\/div>
How to Start the Carrier Screening Process<\/h3><\/div>
\n
How to Find a Genetic Counselor<\/h3><\/div>
Frequently Asked Questions<\/h3><\/div>
General Topics<\/h4><\/div>
<\/i><\/i><\/span>My partner isn\u2019t Ashkenazi Jewish. Should we still have carrier screening?<\/span><\/a><\/h4><\/div>
<\/i><\/i><\/span>I\u2019ve heard carrier screening can be done at home. Is that true?<\/span><\/a><\/h4><\/div>
<\/i><\/i><\/span>If I already have a healthy child, do I still need to have carrier screening?<\/span><\/a><\/h4><\/div>
<\/i><\/i><\/span>Where can I get carrier screening?<\/span><\/a><\/h4><\/div>
<\/i><\/i><\/span>Why are natural history studies and the Patient Insights Networks (PIN) important to clinical trials?<\/span><\/a><\/h4><\/div>
<\/i><\/i><\/span>Why do patients have to meet certain criteria to be accepted into the trial?<\/span><\/a><\/h4><\/div>
Tay-Sachs Disease<\/h4><\/div>
<\/i><\/i><\/span>I\u2019m concerned that I may be a carrier for Tay-Sachs disease. What type of carrier screening will offer the most accurate results?<\/span><\/a><\/h4><\/div>
<\/i><\/i><\/span>Only one of my grandparents is Jewish. Do I still need carrier screening for Tay-Sachs disease?<\/span><\/a><\/h4><\/div>
<\/i><\/i><\/span>I\u2019m pregnant and I just found out that I have a family history of Tay-Sachs disease. Can I get carrier screening while I\u2019m pregnant?<\/span><\/a><\/h4><\/div>