Carrier Screening is for Everyone

Achieving equity in healthcare is a major motivator for the Myriad Genetics team. We believe that genetic testing and screening, done right, can help address several serious health disparities. In a recent Myriad Live webinar (listen here), our chief medical officer, TJ Slavin talked with Deanna R. Darnes, director of Genetic Counseling and Services, Fetal Care Center in Dallas and co-author of a recently published paper about how carrier screening can help address reproductive health disparities.  

According to the paper, carrier screening is often recommended only for patients of certain self-reported ancestries, leaving out many people who could benefit from it. Expanded carrier screening is now possible for all patients and “presents a unique opportunity to promote equitable genetic testing practices in reproductive medicine,” the authors note. 

As Darnes said in the webinar, disparities can easily occur between patients who get a lot of information about the importance of carrier screening from their physician and those who don’t. “It’s something that should be talked about more frequently and has the ability to affect a lot more patients,” she said. For more equitable care, she recommended offering carrier screening to all patients who are planning to start a family or are pregnant, ensuring informed consent, and checking that each patient’s insurance will cover the test. “We’re definitely in a place where we have the technology to offer more testing to more people,” Darnes added. 

But unfortunately, it may fall to patients to request carrier screening. “As a patient, you’re almost certainly at the mercy of your healthcare providers’ biases, what they think a patient may or may not be able to afford or what they think they may not be interested in,” Darnes said. In instances where physicians don’t proactively offer such screening, it’s up to the genetic testing community to make sure patients know that this kind of service is available — and relevant to their family’s healthcare. “You can’t advocate for what you don’t know [is] out there, or what’s accessible,” she said. 

For some specific examples of the need for carrier screening, the webinar also included Liz Collins, a member of the Clinical Genomics Team at Myriad Genetics. Her focus was a group of health conditions collectively known as hemoglobinopathies, for which 7% of the world’s population is a carrier (meaning they have a genetic variant that, when passed on to a child, could lead to a lifelong health condition). Collins shared a poster from the recent conference of the American College of Medical Genetics and Genomics that focused on carrier screening for hemoglobinopathies — and the need for using advanced technologies such as Next Generation Sequencing (NGS), to properly characterize variants for patients of all ancestries.  

Some technologies are better than others at detecting certain types of variants, and some of those hard-to-spot variants “are particularly common in ethnicities that would be traditionally under-served in the U.S. medical systems,” Collins said. To achieve more equitable care, carrier screening tests must be able to detect the full range of variants. 

In her poster, Collins and the Myriad Genetics team accomplished that by incorporating DNA sequencing instead of the more common approach of electrophoresis. Based on her detailed analysis of variants that could be detected with sequencing but missed by other methods, Collins said, “We felt that this really demonstrates kind of an alarming potential scale for hemoglobin misidentification by electrophoresis.” Sequencing, by comparison, “offers superior sensitivity and specificity,” she added, noting that this approach even made it possible to resolve false negatives from more traditional techniques. 

That’s just one of the many ways our team is working to ensure that carrier screening tests give reliable results to patients of all ancestries. By applying a pan-ethnic approach to carrier screening and employing NGS for hemoglobinopathy variant detection, Myriad Genetics continues to provide reliable results to patients of all ancestries and reduce disparities in reproductive healthcare. Learn more about our approach to carrier screening with the Foresight^® Carrier Screen.