New evidence-based ALS genetic testing guidelines improve stakeholder knowledge
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A new set of evidence-based guidelines for ALS genetic testing are focused on improving knowledge among all stakeholders, according to a report in the Annals of Clinical and Translational Neurology.
“Our research has shown that persons with ALS want access to genetic testing. This has become even more important now that the first gene-targeted therapy for ALS has been granted FDA approval,” Jennifer Roggenbuck, MS, LGC, an assistant professor of clinical neurology at the Ohio State University College of Medicine, told Healio in an email. “However, many persons with ALS are not offered genetic testing.”
Despite progress in accessibility of genetic testing for those with ALS, the practice has not been established as “standard of care.” Roggenbuck and co-authors sought to develop clinical ALS genetic counseling and testing guidelines to improve and standardize the practices for neurologists, genetic counselors or other providers caring for persons with the condition.
The authors identified a series or core questions, then performed a rapid review according to Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA-P) 2015 method.
Guideline recommendations were drafted and the strength of evidence for each recommendation was assessed by combining two systems: the Grading of Recommendations, Assessment, Development and Evaluation (GRADE) System and the Evaluation of Genomic Applications in Practice and Prevention (EGAPP). A modified Delphi approach was used to reach consensus among a group of content experts for each guideline statement.
Roggenbuck and co-authors codified their analysis into a total of 35 guideline statements, chief among them being that all persons with ALS should be offered single-step genetic testing consisting of a C9orf72 assay, along with sequencing of SOD1, FUS and TARDBP, at a minimum.
Additional guidelines focused on preparing the individual for the physical, emotional, psychological and economic impacts of testing and eventual diagnosis; full knowledge of and consent for testing; post-test counseling for a range of outcomes; implications of testing for family members as well as technical aspects and ramifications of genetic testing.
“Our evidence-based guidelines recommend that all persons with ALS be offered comprehensive genetic testing, and that all should receive genetic counseling to help them understand the possible implications for themselves and their family members,” Roggenbuck told Healio. “We anticipate that this will empower persons with ALS to reap the benefits of our rapidly developing technologies.”