Equitable and Actionable Carrier Screening
Carrier screening is for all patients
We offer carrier screening panels that focus on providing equitable care, regardless of a patient’s ethnicity or family history. Taking into consideration evidence-based guidelines from multiple societal bodies, these panels have been designed to meet the needs of a multi-ethnic population, provide actionable results, and improve patient outcomes.
80% of babies born with a genetic condition have parents with no family history of that condition1
If both parents are carriers of the same autosomal recessive genetic condition, then in each pregnancy, there is a 25% chance of the child having that condition.
If a mother is a carrier of an X-linked genetic condition, each son has a 50% chance of being affected by that condition.
What is Carrier Screening?
Carrier screening is a type of genetic testing that determines if you are a carrier of an autosomal recessive or X-linked genetic condition and evaluates the risk of the condition affecting your child. Many individuals are not aware of being a carrier for specific conditions because there are typically no visible symptoms and no evidence of the condition in their family history. However, if both reproductive partners are carriers of the same condition, there is a risk the condition will affect the baby.
Benefits of carrier screening
- Learn if you are a carrier for specific genetic conditions
- Understand the risk of your child being affected by an inherited genetic condition
- Consider reproductive options to reduce your risk
- Be informed on early intervention and treatment options
- Improve preconception, pregnancy, and postnatal planning
Use cases in which early insights help our patients
Lauren is expecting her first child, and after speaking with her provider, she decided to do carrier screening to learn about her reproductive risks that could potentially affect her baby. She was surprised to learn that both she and her partner are carriers for Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD), an autosomal recessive condition that prevents the body from fully breaking down fat to release energy. Since Lauren and her partner are both carriers, their baby has a 25% chance of being affected by the condition. Although MCADD can lead to serious and even life-threatening complications, early treatment before the onset of symptoms can allow for a healthy and normal life. By learning about the risk of MCADD before birth, Lauren had time to consult with her healthcare team and prepare for early treatment to enable better health outcomes for her baby.
When Rachel and Bryan met, they quickly bonded over their mutual Ashkenazi Jewish ancestry and cultural upbringing. This shared background was a wonderful foundation for their relationship, and they were excited to look to the future and build a family. But Bryan was aware that there are several autosomal recessive conditions that are more common in people with Ashkenazi Jewish heritage. This means that Rachel and Bryan could be at increased risk to have a baby with one of these genetic conditions. By electing to have carrier screening before pregnancy, Rachel and Bryan can evaluate their carrier statuses for many autosomal recessive genetic conditions, including those of particular concern in the Ashkenazi Jewish population. Most likely, carrier screening will show that they are not carriers of any of the same conditions and have a low-reproductive risk. But if carrier screening does identify they are at increased risk, Rachel and Bryan can consider meeting with specialists to see how this information may impact their family planning.
Assisted Reproductive Technology
After years of infertility, Michael and Heidi were referred to a reproductive endocrinologist to understand different reproductive technologies that could increase their chance of becoming pregnant. Their doctor offers carrier screening to see if they are carriers of any of the same autosomal recessive genetic conditions. If Michael and Heidi are at a high risk to have a baby with one of these conditions, the couple may decide to create embryos using in vitro fertilization (IVF) and test the embryos for the conditions using pre-implantation genetic testing for monogenic disease (PGT-M). By doing IVF and PGT-M, the couple will know which of their embryos inherited the condition and which did not, so they can select unaffected embryos for transfer.
Kira and Sasha are excited to start a family with the use of a sperm donor and in vitro fertilization. Their fertility group has several donors for them to choose from and each bio includes the donor’s carrier screen results. They think they have found the perfect donor, but they notice he is a carrier of spinal muscular atrophy. Unsure if they will use Kira’s eggs or Sasha’s eggs, they decided to do carrier screening to see if either of them is a carrier of this condition. To their surprise, Kira was found to be a carrier of this condition. Now the couple can decide if they would like to move forward with this donor and Sasha’s eggs or select a new donor who has low-reproduce risks for both partners.
Early Advantage Panel
The Early Advantage Panel screens for 68 conditions and is the first of its size to incorporate conditions that the U.S. Department of Health and Human Services (HHS) recommends be included in newborn screening (NBS). The list of conditions that the HHS recommends all states use in their NBS programs is known as the Recommended Uniform Screening Panel (RUSP) and was compiled based on evidence that supports the benefits of early diagnosis and the availability of effective treatments.
Despite this recommendation, most state NBS programs do not include all of these conditions. The Early Advantage Panel is a powerful tool that provide you with more pregnancy and birthing options, shorten the diagnostic odyssey, and prepare you to begin any necessary treatment right after birth.
View the complete list of conditions included in the Early Advantage Panel below:
The Super Panel screens for 145 conditions that are common, severe, early onset, and are clinically actionable. This panel prioritizes intelligently curated gene selection and comprehensive technology to provide an equitable carrier screening panel for all patients, regardless of their ethnicity or family history.
View the complete list of conditions included in the Super Panel below:
We offer genetic information sessions both before and after carrier screening so you understand your reproductive risk and feel comfortable deciding next steps. Our board-certified genetic counselors can walk you through how carrier screening works, how results are determined, and provide information about multiple reproductive options. Genetic counseling services may also be available through your healthcare provider. Speak with your provider for additional details.
Coverage and Affordability
We are here to help make carrier screening affordable and accessible to all patients. Our Patient Care team works directly with insurance providers to learn about prior authorization requirements and coverage of carrier screening, so you know what to expect. If you do not have insurance or have insurance coverage concerns, we offer financial assistance and self-pay options.
Your carrier screen result will indicate if you were found to be a carrier of any of the conditions on the carrier screen panel. If you screen positive for one or more conditions, detailed information about the conditions, risks, and next steps are included on the report. Following a positive carrier screen result, testing of your male reproductive partner is typically recommended to determine reproductive risks. All conditions for which you screened negative will also be listed on the report.
It is important to remember that it is very common to receive a positive result on your carrier screen and a positive result does not necessarily mean that any children will be affected by the condition. Genetic counseling is recommended to learn more about what a positive result means and what next steps are needed. A negative result means that no known disease-causing mutations were identified in the tested genes. A negative result does not eliminate the possibility of being a carrier for the condition but does make it very unlikely.
- Blythe SA, Farrell PM. Advances in the diagnosis and management of cystic fibrosis. Clin Biochem. 1984 Oct;17(5):277–83