It’s quite common for diseases, or the risk to develop disease, to be passed down through the generations in a family. Even people who don’t have the disease, or exhibit symptoms of having a disease themselves, may be carriers of conditions and have affected children. That’s why so many prospective parents want to know which genetic conditions they may pass on to their children. Genetic screening or testing, particularly carrier screening, provides them with that information. 

Carrier screening has been around for decades. Recent advances in genetic and genomic testing technology have led to major improvements in carrier screening — boosting the accuracy of results and increasing the number of diseases that can be screened. These newer tests are often referred to as expanded carrier screening (ECS). 

With so many new carrier screening options, physicians can have a hard time figuring out which test to recommend, and which patients may benefit from ECS. Guidelines issued by professional healthcare societies can be enormously helpful in clarifying these situations, making decisions more straightforward for physicians and prospective parents alike. 

That’s why we are thrilled to see new, evidence-based guidelines for expanded carrier screening published in the Journal of Genetic Counseling, the official journal of the National Society of Genetic Counselors (NSGC). Genetic counselors are trained to understand genetic testing, interpret results, and discuss testing options so that patients can make their most informed choices. Genetic counselors are incredibly important to any genetic testing process — so when they talk, we listen. 

In the new NSGC guidelines, perhaps the single most important recommendation is to offer expanded carrier screening to “all individuals considering reproduction and all pregnant reproductive pairs.” In the past, physicians were encouraged to recommend carrier screening to patients in certain ethnic groups or with a family history of certain diseases. This approach to carrier screening meant that some people who could have gotten valuable information from carrier screening missed out. 

The universal approach recommended by NSGC is not only easier to implement, it’s also more equitable – ensuring that all hopeful parents have the option to learn about their risk of passing inheritable genetic conditions on to their children. In fact, the authors of the NSGC guidelines suggest that it may be more fitting to replace the phrase “expanded carrier screening” with “equitable carrier screening” because of its ability to help so many more people. It “presents an ethnicity-based carrier screening alternative which does not rely on race-based medicine,” the authors add. 

Here at Myriad Genetics, we have spent decades advocating to expand access for genetic testing to as many people as possible. We believe that the critical information generated by these tests should be available to everyone whose health could benefit from it. As one of the pioneers of expanded carrier screening, our team has put considerable effort into large-scale scientific and clinical studies to help the entire community better understand how to use genetic testing. We are pleased to see that the new NSGC guideline incorporates eight of Myriad’s studies in their detailed analysis. 

We are grateful to everyone at NSGC who worked to make these guidelines inclusive, robust, and clear. We believe the new recommendations will contribute to more equitable access to carrier screening for all prospective parents in the future. 

For more information on our Foresight^® Carrier Screen test and how it can help guide family planning decisions for parents of every ancestry, click here: https://myriad.com/genetic-tests/foresight-carrier-screen/