Study Highlights Gaps in Knowledge Among Prenatal Genetic Counselors

Marisa Wexler MS avatar

by Marisa Wexler MS |

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Many prenatal genetic counselors are unfamiliar with important concepts related to spinal muscular atrophy (SMA) and its treatment, according to a new study.

The study, “Evolving approaches to prenatal genetic counseling for Spinal Muscular Atrophy in the new treatment era,” was published in the Journal of Genetic Counseling.

A genetic counselor, or GC, is a specialist who can help patients understand complicated genetic information and what that information means for their health and family planning. Prenatal GCs specialize specifically in providing information around conception and planning for birth.

“A prenatal GC has an important role [in SMA care] to enable clear communication, shared decision-making, and psychosocial support, which are all critical for families to cope with the impact of diagnosis,” the researchers wrote.

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The first disease-modifying treatment for SMA, Spinraza (nusinersen), was approved in the U.S. in 2016, and more therapies have since been approved. Accumulating data have shown that these medications can drastically alter the normal course of SMA. Notably, Spinraza and other SMA treatments generally are most effective when given early in disease, ideally before patients have noticeable symptoms.

Before the approval of Spinraza, prenatal genetic counseling for SMA was largely limited to helping parents understand what the disease would mean for their child and working through difficult decisions about whether or not to continue the pregnancy.

However, with newly available treatments, there is another option: getting parents prepared to start lifelong treatment of SMA shortly after their child is born. In this setting, it is critical that prenatal GCs be knowledgeable about SMA and its treatments, so they can provide the best possible guidance to parents.

The new study reports findings from a survey of 182 prenatal GCs in the U.S. — about 12% of the total number of people practicing this specialty in the country.

All survey respondents agreed that it is important for prenatal GCs to know about treatments for SMA. However, when asked about their familiarity with Spinraza, most of the respondents (53.8%) said they knew only “a little bit” about the medication.

By comparison, 19.8% knew “quite a bit” about Spinraza, while 20.9% had “heard of it, but unsure what it is,” and 5.5% had never heard of this medication. Nearly half of the respondents (42.2%) said they never discussed Spinraza in their practice.

“Our data suggest that a subset of GCs are not currently acquiring knowledge about novel SMA treatments from existing sources,” the researchers wrote. They noted that additional continuing education resources, as well as better collaboration across disciplines, could help fill in these gaps.

Other parts of the survey asked the GCs how likely they would be to bring up Spinraza in various clinical scenarios. Broadly, GCs said they would be more likely to mention the medication in situations with a higher risk of SMA — for example, if one or both parents is a carrier of the disease, or if the developing fetus is already known to have the disease.

Compared with Spinraza, GCs were generally more familiar with and more comfortable discussing newborn screening (NBS) — testing infants for SMA when they are born.

Some GCs indicated that they felt the availability of NBS might mean that prenatal testing or carrier testing — both of which look for SMA-causing mutations before the child is born — would not be needed. However, the researchers stressed that, because of logistical realities, even infants diagnosed via NBS often do not start treatment until after they have begun to exhibit symptoms of the disease. Plus, making time-sensitive decisions about expensive and complicated treatments within the few weeks of having a newborn is immensely stressful.

“Even with NBS and treatments available, there is certainly still justification to offer carrier screening and early diagnosis during pregnancy,” the researchers concluded. “Prenatal GCs should be aware that a prenatal diagnosis enables preparations for prenatal care, delivery management, psychosocial support, and logistics once the child is born.”

The team added that they “encourage prenatal GCs to incorporate up-to-date information about SMA treatments into their practice.”