touchMEETING HIGHLIGHTS Genetic counseling and testing: advancements, barriers, and opportunities in rare disease
Learn about the latest advancements and current barriers in genetic counseling and testing from expert speaker, Jennifer Roggenbuck.
In this short animation, the consensus guideline recommendations for genetic counseling and testing in amyotrophic lateral sclerosis (ALS), including the importance of counseling before and after testing is described.
In this symposium presentation, Jennifer Roggenbuck discusses the evolution of genetic counseling and testing in rare diseases, and summarizes the consensus guideline recommendations for genetic counseling and testing in amyotrophic lateral sclerosis (ALS).
In this chapter, an overview of the topics is provided by the facilitator.
In this chapter, Jennifer Roggenbuck provides an overview of the history of genetic testing in rare diseases, including the example of successful integration of newborn screening in spinal muscular atrophy (SMA).
In this chapter, Jennifer Roggenbuck outlines the rationale for developing amyotrophic lateral sclerosis (ALS) guidelines, and summarizes key recommendations.
In this chapter, Jennifer Roggenbuck describes common challenges to implementation of genetic counseling and testing, and how addressing these challenges may impact patient journey and outcomes.
This chapter features an interactive discussion with the audience.
Overview & Learning Objectives
Overview
In rare diseases such as amyotrophic lateral sclerosis (ALS), the use of genetic testing has evolved significantly.1,2 Testing has implicated an expanding number of gene variants in ALS disease pathogenesis,3 facilitating genetic diagnosis in some patients. As there is an unmet need for guidance on the use of genetic counseling and testing in ALS,4 evidence-based consensus guidelines have been developed and published.5 In this activity, Jennifer Roggenbuck discusses advancements, barriers, and opportunities in genetic counseling and testing in rare diseases, including consensus guideline recommendations for their use in ALS.
Learning Objectives
After watching this activity, participants should be better able to:
- Revisit the history and evolution of use of genetic counseling and testing in rare disease
- Learn about the 2023 consensus guidelines (Roggenbuck et al. 2023) for genetic counseling and testing in amyotrophic lateral sclerosis
- Discuss common barriers to implementation of consensus guidelines and clinician perspectives on strategies to optimize success
About Faculty
Jennifer Roggenbuck, MS, CGC
The Ohio State University Wexner Medical Center, Columbus, Ohio, USA
Jennifer Roggenbuck is a genetic counselor and Associate Professor at The Ohio State University Medical Center. Her research interests include the clinical application and integration of amyotrophic lateral sclerosis (ALS) gene discovery for patient care. In this capacity, she has authored evidence-based guidelines for genetic testing in ALS. Beyond ALS, she studies myopathies and muscular dystrophies that result from harmful changes in the TTN gene.
Jennifer Roggenbuck discloses: Consultant for Biogen and Ionis, and received research funding from the Packard Foundation and the ALS Association.
References
- OMIM. OMIM Pace of Gene Discovery Graph. Available at: https://www.omim.org/statistics/paceGraph (accessed June 2024).
- Boycott KM, Rath A, Chong JX, et al. International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases. Am J Hum Genet. 2017;100:695-705.
- Brown RH, Al-Chalabi A. Amyotrophic Lateral Sclerosis. New Engl J Med. 2017;377:162-72.
- Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405-2.
- Roggenbuck J, Eubank BHF, Wright J, et al. Evidence-based consensus guidelines for ALS genetic testing and counseling. Ann Clin Transl Neurol. 2023;10:2074-91.
