Carrier Screening Misconceptions
Planning a Family? Don’t Overlook Carrier Screening
Carrier screening is a one-time genetic test used to identify individuals who carry one copy of a gene mutation associated with a recessive genetic disorder. Carriers are typically asymptomatic due to the presence of one functioning gene copy.
However, when two reproductive partners are carriers of the same condition, there is a 25% chance with each pregnancy that the child will inherit two non-functioning copies of the same gene and be affected by the disorder.
Carrier screening is endorsed by the American College of Obstetricians and Gynecologists (ACOG) and is recommended for all individuals who are pregnant or planning to become pregnant. While ideally offered and performed preconception, screening may also be initiated at any point in pregnancy.
Core Panel Recommendations
ACOG specifically recommends universal screening for:
- Cystic Fibrosis (CF)
- Spinal Muscular Atrophy (SMA)
- Hemoglobinopathies, including alpha and beta thalassemias and sickle cell disease
Screening for additional conditions, such as Fragile X syndrome, remains guided by patient ancestry, personal and family history, or provider discretion.
Addressing Common Misconceptions
Despite its broad utility, several misconceptions about carrier screening continue to influence how providers approach this testing.
Family history is not a prerequisite.
Most individuals identified as carriers have no known family history of the disorder. Additionally, race and self-identified ethnicity often do not accurately reflect genetic ancestry ¹.
Carrier screening is not diagnostic.
This testing is a risk assessment tool to identify individuals who may be at risk of having a child with a genetic disorder. A positive result should prompt genetic counseling and testing of the reproductive partner to assess the couple’s combined risk.
Cost concerns are often overstated.
While insurance coverage varies, especially depending on coding and carrier policies, HNL Lab Medicine offers affordable self-pay pricing including $250 for a bundled CF/SMA panel and $28.96 for hemoglobinopathy screening. These options can help ensure access for patients with limited or no insurance coverage.
Advances in Screening: Pan-Ethnic and Expanded Panels
Historically, carrier screening was based on ethnicity, with different panels recommended for different populations. However, increasing admixture of populations and improved testing technologies have led to the adoption of pan-ethnic screening models.
For example, approximately 1 in 66 people in the United States carry a hemoglobinopathy trait, which highlights the importance of universal testing regardless of self-identified race or ethnicity ¹. These genetic tests help identify at-risk individuals across all backgrounds, increasing both equity and clinical value.
Impact on Reproductive Decisions
When a patient is identified as a carrier, follow-up testing of their reproductive partner is essential to assess the couple’s risk of conceiving an affected child. HNL Lab Medicine offers no-cost testing for reproductive partners if testing is completed within six months of the original report.
This allows for timely and comprehensive risk assessment and supports informed decision-making regarding prenatal planning or pregnancy management. It also allows patients to pursue the use of reproductive technologies such as IVF with preimplantation genetic testing, or the use of egg donors, sperm donors, or adoption.
Streamlining the Ordering Process
For providers already partnering with HNL Lab Medicine, ordering carrier screening for eligible patients is straightforward and designed to fit seamlessly into your workflow.
For providers using EPIC, all tests are available under “Prenatal Carrier Screening Panel.” Whether your practice is integrated with our EMR-compatible ordering system or uses paper requisitions, placing an order is quick and hassle-free. Our laboratory team is always available to assist with questions or billing concerns to help you incorporate carrier screening confidently into prenatal care.
If carrier screening is not yet part of your routine prenatal care, now is the time to add it. Ordering through HNL Lab Medicine means reliable, efficient testing with the support you need – stress free and no added complexity.
A Universal Message
Every individual, regardless of ethnicity or family history, can be a carrier of a genetic condition.
Carrier screening enables proactive reproductive care and allows providers and patients to make informed decisions about pregnancy management and genetic risk.
Deliver the informed, personalized care every patient deserves. For more information about how to order carrier screening, visit our website or contact Customer Care at -877-402-4221.
REFERENCE
¹ American College of Obstetricians and Gynecologists. (2022, August). Practice Advisory: Hemoglobinopathies in pregnancy (Reaffirmed September 2024). https://www.acog.org/clinical/clinical-guidance/practice-advisory/articles/2022/08/hemoglobinopathies-in-pregnancy.