Education Is Essential to Success of SMA Carrier Screening Programs, U.K. Study Finds

Families living with spinal muscular atrophy (SMA), like most people, favor screening for genetic disorders. Yet those who lack experience with SMA generally take a far more negative view of the disease.

That’s according to a new study, “The role of experiential knowledge within attitudes towards genetic carrier screening: A comparison of people with and without experience of spinal muscular atrophy,” which appears in the journal Health Expectations.

Screening for genetic diseases lets individuals know whether they carry a genetic mutation, and what their risk is of having a given disease. Such tests come in two forms: pre-conception genetic screening (PCGS), which allows parents to learn of their genetic carrier status after the birth of an affected child, and prenatal genetic screening (PNGS), which lets pregnant women know if they carry a genetic disease.

Positive test results inform parent who must make future decisions based on “the significant life changes that typically accompany the birth of a child with a serious genetic disorder,” researchers wrote.

To study the attitudes of the general public towards screening and the views of people living with specific genetic diseases, British researchers interviewed 337 people with SMA experience and 336 with no prior experience. Results showed that 86 percent of those in the non-SMA group supported PCGS, compared to 77 percent in the SMA group, which was composed predominantly of people associated with type 2 SMA.

In comparison, levels of support were 88 percent among those associated with type 1 SMA, and 73 percent among those associated with type 3. But significantly less support was found in both family members associated with type 2 SMA (72 percent) and adults with type 2 SMA (63 percent).

Regarding PNGS, levels of support were significantly higher among non-SMA-associated participants (84 percent) than among SMA-associated subjects (76 percent). Once again, this difference was predominantly driven by participants associated with type 2 SMA (family members 72 percent) and adults with type 2 (52 percent).

“The majority of both cohorts were in favor of pre-conception and prenatal carrier screening. However people with experience of type 2 SMA were least likely to support either,” researchers wrote. “Key differences emerged around perceptions of SMA, with those without SMA experience taking a dimmer view of the condition than those with.”

Researchers believe more studies are necessary to understand the relationship between disease severity and support to screening programs.

“It highlights the need for accurate and high-quality educational resources to support any future carrier screening programs,” they said.