By Sarah Goldberg
As genetic tests allow us to know more about our makeup than ever before, sorting out just how much information we want about ourselves and our families can feel complicated – and perhaps nowhere is the question more pertinent than when having a baby.
What do we want to know about a child’s risk of disease? Most of us would agree that we would avoid passing on a fatal childhood illness, such as Tay-Sachs, if we could. What about disorders that are serious but not life-threatening? The answer of course will vary person by person. But where people are in the family planning process can also make a difference. Seeking out information as early as possible – ideally prior to conception – can help parents-to-be feel empowered rather than anxious.
A recent NPR story shared one couple’s experience with expanded carrier screening during pregnancy to explore whether more information is helpful or harmful. Test results indicated their baby could inherit spinal muscular atrophy, leaving them worried and in search of a genetic counselor. Their daughter was ultimately born healthy, but the experience was an added stressor. Fortunately, there are ways to improve the screening experience and reduce the likelihood of finding yourself in a similar situation.
First, consider preconception carrier screening. This allows you to talk about risk and make an informed decision while it’s still hypothetical. Most families will receive information that helps them worry less (97% of babies born healthy, as the NPR article points out). For couples who learn they carry the same recessive disorder, preconception screening provides more options for having a healthy baby. Even those who don’t choose to alter their approach to family planning can benefit from this knowledge by preparing for early intervention.
Second, ensure you have access to expertise. Consider screening through a doctor’s office or community program – such as the one offered by the Norton & Elaine Sarnoff Center for Jewish Genetics – that includes genetic counseling as part of the pre- and post-screening process. Before the test, education can help you understand what the test screens for and the potential outcomes. Afterward, receiving results from a genetic counselor or doctor with expertise in genetics ensures a thorough explanation and an opportunity to ask questions.
Genetic counselors can also help you understand risk, which often poses a challenge. Beyond understanding numbers and statistics, it’s hard to take our feelings out of the equation and focus on facts with something that feels so personal, like our health and the health of families. Genetic counselors are trained in both medical genetics and counseling to empower you with information and provide emotional support.
The journey to become a parent is exciting – and also filled with many unknowns. Take away one by getting screened earlier and with guidance from a genetic counselor.
To learn more about the Sarnoff Center’s affordable, accessible carrier screening program or to speak with a genetic counselor, visit JewishGenetics.org/cjg/get-screened or contact us at GeneticScreening@juf.org.