A recent survey showed that spinal muscular atrophy (SMA) patients and their families are generally supportive of genetic screening program for early detection of SMA. However, they still have a number of fears about the real outcome of the tests.
These findings stressed the need of improved relations between those who live with the disease and those who promote health programs.
The results were featured in two studies: “Population screening for spinal muscular atrophy: A mixed methods study of the views of affected families,” and “Newborn screening for spinal muscular atrophy: The views of affected families and adults,” published in the American Journal of Medical Genetics.
“The study touches on many of the key social and ethical debates around genetic screening more broadly,” said Dr. Felicity Boardman, lead author of both studies. “In particular, the challenging question of how severe a condition needs to be in order to justify a screening program for it, and how conditions such as SMA, with its wide spectrum of presentations, is described to potential parents within genetic screening contexts.”
In these studies, the authors conducted in-depth interviews with 36 patients diagnosed with SMA or a family member of an SMA patient, followed by a survey that included 337 participants, of whom 82 had SMA and 255 were family members. Focused on the participants’ views towards genetic screening, they specifically addressed three population screening programs: preconception, prenatal, and newborn.
They found that most of the participants were in favor of SMA genetic screening. About 77 percent of the respondents showed more support toward preconception genetic screening to identify potential parents as carriers before a pregnancy; 76 percent supported prenatal screening; and 70 percent of study participants were in favor of newborn screening.
The participants believed that genetic screening could increase the general population’s awareness of SMA, but could also improve informed decision-making of parents, and promote support and treatment possibilities for pre-symptomatic children.
Both studies showed that SMA patients and their families affected by SMA types 1 and 3 were predominantly in favor of all forms of screening. However, type 2 patients were the least likely to support screening.
Among the major concerns about genetic screening was the test’s accuracy in predicting SMA type, the impact it could have on the quality of life of the families, and the possible social judgment against carrier parents. Also, the lack of a cure for this disease raised some concerns against genetic screening.
The studies’ results showed that this type of screening can have a great impact on patients and their families, not only regarding their health but also socially, emphasizing the need to take into account their views when addressing screening programs.
“As the participants in this study highlighted, high quality, accurate information is key to any successful screening program for SMA and needs to be developed in conjunction with the families and individuals who have direct and personal experience with the condition,” Boardman said.