Explaining the value of expanded carrier screening just got a whole lot easier. Five professional organizations, including ACOG, ACMG, SMFM, NSGC, and the Perinatal Quality Foundation, recently issued a joint statement in the March issue of Journal of Obstetrics & Gynecology (1) that helps clarify for physicians how to use expanded carrier screening and, even more important, who can benefit from it. By doing so the group clears up misconceptions that have prevented many men and women from getting screened. It also validates Counsyl’s commitment to reaching a broader population and offering genetic counseling support.
This is the first instance in which a coalition of medical organizations has issued a statement on expanded carrier screening, and it was time. Thanks in part to the drive by Counsyl, among others, to make screening more affordable, expanded carrier screening has become a much more common practice. “One impetus for doing this was the recognition that many practitioners were already offering it and it was time to provide some guidance,” says Dr. Jim Goldberg, Counsyl’s Chief Medical Officer and a reproductive genetics expert who was one of the authors of the Joint Statement prior to joining Counsyl.

Misconceptions about who’s eligible for ECS hurts families

Another even more important reason for issuing the statement on carrier screening is that outdated thinking means many growing families are missing out on its benefits. Carrier screening, the group says, is no longer just for people with a family history of a disease or a particular ethnic background. “Ethnic-based panels miss couples at risk for an offspring with a significant disorder,” says Dr. Goldberg. In acknowledging the importance of making carrier screening a routine part of preparing for a baby, the joint statement “basically supports everything we’ve been saying about the utility of screening more people for more diseases,” says Shivani Nazareth, Counsyl’s Director of Women’s Health.
There’s still no consensus on the severity of diseases a screening should include but that may be next. Says Nazareth, “I think this is an acknowledgment that we’re moving in the direction of having a standard of panel of diseases that we screen for prior to pregnancy, no matter what your background or ethnicity.”
Highlights of the joint statement:
Carrier screening is useful and gives patients critical information and options. “Carrier identification allows for preconception planning as well as the option of prenatal diagnosis for the couple at risk. Early identification of affected pregnancies allows condition-specific counseling and care.”
Carrier screening is an important part of preconception and prenatal care. While the statement does not replace individual society medical guidelines, it offers direction to doctors who wish to offer carrier screening to patients. In other words, it validates that this practice is here to stay.“Carrier screening for inherited genetic conditions is an important component of preconception and prenatal care.” They go on to state, “Whether the practitioner follows current professional society recommendations or uses expanded carrier screening, the goal of preconception and prenatal carrier screening is to provide couples with information to optimize pregnancy outcomes based on their personal values and preferences.”
Carrier screening should not be limited by ethnicity. The authors acknowledge that relying on ethnicity and/or ancestry to determine what diseases to screen for has limitations, especially in our “increasingly multiethnic society.” The authors indicate that carrier screening should offer the same set of diseases to all patients, regardless of race or ethnicity.
“All individuals, regardless of race or ethnicity, are offered screening for the same set of conditions” due to “inaccurate knowledge of ancestry in our increasingly multiethnic society” and “recognition that genetic conditions do not occur solely in specific ethnic groups.”
Candidates for carrier screening include: a) women of reproductive age before conception; b) egg and sperm donors; and c) pregnant couples. Preconception screening can be offered sequentially or in tandem (both partners at the same time) but for pregnant couples it makes more sense to screen mom and dad at the same time.
Genetic counseling for at-risk couples is an important part of the expanded carrier screening process. The authors agree that it is not practical or necessary for doctors to explain each condition to patients before testing. But while pre-test genetic counseling for each disease is not required, at-risk couples need genetic counseling to understand what it means to be a carrier.“Health care providers who use expanded carrier screening should have a plan to provide accurate information to patients identified as carriers of a condition.” This is further evidence that Counsyl, which offers post-test genetic counseling with every screen, is doing it right.
1. Edwards JG, Feldman G, Goldberg J, et al. Expanded carrier screening in reproductive medicine-points to consider: a joint statement of the american college of medical genetics and genomics, american college of obstetricians and gynecologists, national society of genetic counselors, perinatal quality foundation, and society for maternal-fetal medicine. Obstet Gynecol. 2015 Mar;125(3):653-62