What is Carrier Screening?

Carrier testing is a form of genetic testing conducted 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 genetic changes, known previously as mutations and more recently as variants, does not mean that you have the genetic disease yourself, but that you may have a chance to pass it on to a child. This makes carrier screening an important step in planning a healthy pregnancy.  

As advancements are continually made in the genetic testing landscape, patients and providers alike have access to new information and advanced testing options, including expanded carrier screening, also known as non-ethnicity-based carrier screening. Diseases, genes, and variants are constantly being added to screening panels. It is important to note that expanded carrier screens vary, and not all test for the same diseases.
 

Who Needs Carrier Screening?

Carrier screening is recommended for anyone planning a pregnancy or who is already pregnant, regardless of their ethnicity or family history of genetic diseases. Ideally, carrier screening should be performed before pregnancy to allow couples to learn about their reproductive risk and explore options available. Unfortunately, many individuals who didn't know their carrier status, and who weren't offered carrier screening by their provider before expanding their families, have experienced the devastating news that their child is affected by Tay-Sachs, Canavan, GM1, or Sandhoff disease.  
 
As Esther shared, when she was already three months pregnant, she came home to the news from her husband that they were carriers of Tay-Sachs.

"My OBGYN had called. 'We both have the gene for Tay-Sachs,' he told me. Time stood still. I could not believe what I was hearing. For two years, at each annual OBGYN exam, I asked, 'Is there any testing we should be doing? We may try to get pregnant this year.' Despite filling out a form saying I had Ashkenazi Jewish ancestry, no testing or genetic counseling was recommended."

It was only after Esther was pregnant that she learned at a family gathering of her husband's family history of Tay-Sachs carrier status. After conveying this information to her provider,  they were both eventually tested. 

 
Anyone Can Be a Carrier

Regardless of ethnicity or family history of diseases such as Tay-Sachs, Canavan, GM1 or Sandhoff, anyone can be a carrier, which is why NTSAD encourages those seeking to expand their families to have expanded carrier screening to test for a wide range of diseases and to make sure the genes for Tay-Sachs, Canavan, GM1, and Sandhoff diseases are included in their screening. When testing is based solely on reported ethnicity, many individuals may not have accurate or comprehensive information regarding their family history, leaving critical risks undetected.

Julia explained, "We did carrier screening after I was pregnant. But the OB never tested for Tay-Sachs because we answered their 'Are you Jewish?' question with a 'no.' Lo and behold, my husband has the Ashkenazi Jewish variant, and I have the Irish one. So, I always tell people to do the expanded carrier screenings. Many Americans have no clue what their genetics come from. My husband's whole family was unaware of their Jewish heritage." 

"Neither of us have a Jewish background," Shannon told us. "I was ignorant of needing it, and it was offered, so I didn't have any carrier screening before or during pregnancy." Unfortunately, Shannon and her husband found out they were both carriers of Tay-Sachs after their son was diagnosed with the disease.

Discussing Carrier Screening with Family and Friends

Carrier screening can be a sensitive topic to discuss.

Shannon detailed her experience in educating family members, "We've had mixed results with encouraging our families to get screened. I think some people think it's so rare it won't happen to them, even though we share many of the same genetics."   

"I have also found many OBs don't send people for the expanded carrier panel. Multiple people I know have requested testing and been told they don't need that and only received the ethnicity-based screening. I try to encourage people to also see a genetic counselor rather than merely ask an OB, because of this. 

On a positive note, one person in our life was screened because of our advocacy and found out she is a Tay Sachs carrier. Her husband is not, so no action is needed, but now they know. This led to her sister being tested as well. I feel good that future generations of their family will be aware this exists and able to make decisions accordingly." 

Education is Key

As Mia shared with us, "We did not have carrier screening due to living in a rural area and not knowing we had that option."  

Beyond discussing carrier screening 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, if it is known. Even if your family history is not known, you can still advocate for testing. Your clinician or OB-GYN will be able to order carrier screening tests for you and your partner.  

You can also ask your healthcare provider about a referral for an appointment with a genetic counselor, or you locate a genetic counselor directly who will collect your family history information, help order carrier screening, and discuss your results with you.  

The National Society of Genetic Counselors (NSGC) has an online directory called "Find a Genetic Counselor" that connects individuals and healthcare providers with certified genetic counselors across the U.S. and Canada.  Visit findageneticcounselor.nsgc.org for more information.  

 Expanded Carrier Screens Vary 

There are a variety of expanded carrier screening panels offered currently that test for a wide range of diseases, but it is important to note that they may differ in the genes/diseases that are included in their screening test.  NTSAD recommends that the genes responsible for Tay-Sachs, Canavan, GM1, and Sandhoff diseases are included. These genes are HexA, ASPA, GLB1 and HexB, respectively.  

Here are some examples of carrier screening laboratories/companies that include all of our diseases on their biggest panel options panels (as of September 2026): 

• Fulgent Beacon   
• jscreen  
• Labcorp  
• Myriad Foresight  
• Natera Horizon 
• Quest 
  

Some companies offer services beyond simply administering the genetic screening, including genetic counseling to help you understand your results and plan for a healthy future. Karen Grinzaid, the Chief Clinical Officer and Founding Executive Director of jscreen, shared,

"A nonprofit program called jscreen offers at-home access to education, expanded carrier screening and telehealth genetic counseling to help make these services accessible across the U.S. Testing includes Tay-Sachs, Canavan, Sandhoff, GM1 and many other disease genes. Results of testing should be shared with your provider to inform family planning discussions."  

NTSAD is a patient advocacy organization and does not endorse one carrier screening laboratory over another. Instead, NTSAD suggests you consult your healthcare provider. 

Supporting a Healthy Future

Carrier screening can be an important step in understanding the potential genetic risks that may affect you and your future children. By discussing your family history, ancestry, and any known genetic conditions with a healthcare provider or genetic counselor, you can make informed decisions about your reproductive health. Taking the time to learn about these risks and advocating for available screening options can provide valuable information and help you and your partner as well as your extended family members plan for a healthy future with greater confidence and peace of mind.