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- Dilliott, Allison A., et al.
(författare)
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Clinical testing panels for ALS : global distribution, consistency, and challenges
- 2023
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Ingår i: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. - : Taylor & Francis. - 2167-8421 .- 2167-9223. ; 24:5-6, s. 420-435
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Tidskriftsartikel (refereegranskat)abstract
- Objective: In 2021, the Clinical Genome Resource (ClinGen) amyotrophic lateral sclerosis (ALS) spectrum disorders Gene Curation Expert Panel (GCEP) was established to evaluate the strength of evidence for genes previously reported to be associated with ALS. Through this endeavor, we will provide standardized guidance to laboratories on which genes should be included in clinical genetic testing panels for ALS. In this manuscript, we aimed to assess the heterogeneity in the current global landscape of clinical genetic testing for ALS.Methods: We reviewed the National Institutes of Health (NIH) Genetic Testing Registry (GTR) and members of the ALS GCEP to source frequently used testing panels and compare the genes included on the tests.Results: 14 clinical panels specific to ALS from 14 laboratories covered 4 to 54 genes. All panels report on ANG, SOD1, TARDBP, and VAPB; 50% included or offered the option of including C9orf72 hexanucleotide repeat expansion (HRE) analysis. Of the 91 genes included in at least one of the panels, 40 (44.0%) were included on only a single panel. We could not find a direct link to ALS in the literature for 14 (15.4%) included genes.Conclusions: The variability across the surveyed clinical genetic panels is concerning due to the possibility of reduced diagnostic yields in clinical practice and risk of a missed diagnoses for patients. Our results highlight the necessity for consensus regarding the appropriateness of gene inclusions in clinical genetic ALS tests to improve its application for patients living with ALS and their families.
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| 2. |
- Malm, Joakim, et al.
(författare)
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Transferable Skills Gained by Student Leaders in International SI-PASS Programs
- 2022
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Ingår i: The International Journal of Learning in Higher Education. - 2327-7955. ; 29:1, s. 65-82
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Tidskriftsartikel (refereegranskat)abstract
- Supplemental Instruction/Peer Assisted Study Sessions (SI-PASS) is a peer learning program used worldwide to improve students’ learning and performance in challenging courses in higher education. A bonus effect of the program is the transferable skills that the student leaders may develop when facilitating the study sessions. These student leaders can potentially gain communication, group management, and other personal skills that are useful later in life. The relatively few studies devoted to this topic suggest that this is the case; however, these earlier studies have several limitations. They cover only one SI-PASS program, raise generalizability questions, and frequently use their own definitions of skills gained by student leaders that seldom are linked to employability skills. Furthermore, it is rare that these studies include former leaders and their use of the developed skills in working life. This study addresses these limitations for a broader understanding of skills gained by SI-PASS Leaders and how these skills transfer to a job environment. The study includes student leaders from three SI-PASS programs in three countries across three continents. Two questionnaires were used—one for active SI-PASS Leaders and one for former student leaders who graduated from their university. The results show that the SI-PASS Leaders gained transferable skills within several areas, primarily in communication and group management. This skill improvement is independent of the SI-PASS program. The study also shows that most former leaders report the use of these developed skills both in the application/hiring process as well as in the job itself.
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