2,037
Views
0
CrossRef citations to date
0
Altmetric
Genomics

Toward genetic counseling practice standards for diagnostic testing in amyotrophic lateral sclerosis and frontotemporal dementia

ORCID Icon, ORCID Icon, ORCID Icon & ORCID Icon
Pages 562-574 | Received 19 Jan 2022, Accepted 28 Feb 2022, Published online: 27 Mar 2022

References

  • Benatar M, Polak M, Kaplan S, Glass J. Preventing familial amyotrophic lateral sclerosis: is a clinical trial feasible? J Neurol Sci. 2006;251:3–9.
  • Crook A, Jacobs C, Newton-John T, Richardson E, McEwen A. Patient and relative experiences and decision-making about genetic testing and counseling for familial ALS and FTD: a systematic scoping review. Alzheimer Dis Assoc Disord. 2021;35:374–85.
  • Roggenbuck J, Fong JC. Genetic testing for amyotrophic lateral sclerosis and frontotemporal dementia: impact on clinical management. Clin Lab Med. 2020;40:271–87.
  • Turner MR, Al-Chalabi A, Chio A, Hardiman O, Kiernan MC, Rohrer JD, et al. Genetic screening in sporadic ALS and FTD. J Neurol Neurosurg Psychiatry. 2017;88:1042–4.
  • Shepheard SR, Project MinE, Parker MD, Cooper-Knock J, Verber NS, Tuddenham L, Heath P, et al. Value of systematic genetic screening of patients with amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry. 2021;92:510–18.
  • Blauwendraat C, Wilke C, Simón-Sánchez J, Jansen IE, Reifschneider A, Capell A, et al. The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjects. Genet Med. 2018;20:240–9.
  • Brown CA, Lally C, Kupelian V, Flanders WD. Estimated prevalence and incidence of amyotrophic lateral sclerosis and SOD1 and C9orf72 genetic variants. Neuroepidemiology 2021;55:342–53.
  • Müller K, Oh KW, Nordin A, Panthi S, Kim SH, Nordin F, et al. De novo mutations in SOD1 are a cause of ALS. J Neurol Neurosurg Psychiatry. 2022;93:201–6.
  • Miller T, Cudkowicz M, Shaw PJ, Andersen PM, Atassi N, Bucelli RC, et al. Phase 1-2 trial of antisense oligonucleotide Tofersen for SOD1 ALS. N Engl J Med. 2020;383:109–19.
  • ClinicalTrials.gov. A Study of BIIB067 When Initiated in Clinically Presymptomatic Adults With a Confirmed Superoxide Dismutase 1 Mutation (ATLAS). In: (US) NLoM, editor. Bethesda (MD)2021.
  • Amador MM, Gargiulo M, Boucher C, Herson A, Staraci S, Salachas F, et al. Who and why? requests for presymptomatic genetic testing for amyotrophic lateral sclerosis/frontotemporal dementia vs Huntington disease. Neurol Genet. 2021;7:e538.
  • Resta R, National Society of Genetic Counselors' Definition Task Force, Biesecker BB, Bennett RL, Blum S, Estabrooks Hahn S, Strecker MN, et al. A new definition of genetic counseling: National Society of Genetic Counselors' Task Force report. J Genet Couns. 2006;15:77–83.
  • Human Genetics Society of Australasia H. Guideline: Process of Genetic Counseling. Australia; 2012 2012. Contract No.: 2012GL02.
  • Ad Hoc Committee on Genetic Counseling ASoHG. Genetic counseling. Am J Hum Gen 1975;27:240–2.
  • Cairns LM, Rankin J, Hamad A, Cooper N, Merrifield K, Jain V, et al. Genetic testing in motor neuron disease and frontotemporal dementia: a 5-year multicentre evaluation. J Med Genet. 2021;jmedgenet-2021-107776.
  • Mantero V, Tarlarini C, Aliprandi A, Lauria G, Rigamonti A, Abate L, et al. Genetic counseling dilemmas for a patient with sporadic amyotrophic lateral sclerosis, frontotemporal degeneration & Parkinson's disease. J Genet Couns. 2017;26:442–6.
  • Rolf B, Blue EE, Bucks S, Dorschner MO, Jayadev S. Genetic counseling for early onset and familial dementia: patient perspectives on exome sequencing. J Genet Couns 2021;30: 793–802.
  • Mendes Á, Metcalfe A, Paneque M, Sousa L, Clarke AJ, Sequeiros J. Communication of information about genetic risks: putting families at the center. Fam Process. 2018;57:836–46.
  • Craufurd D, Working Group on Genetic Counselling and Testing of the European Huntington's Disease Network (EHDN), MacLeod R, Frontali M, Quarrell O, Bijlsma EK, Davis M, et al. Diagnostic genetic testing for Huntington's disease. Pract Neurol. 2015;15:80–4.
  • Crook A, Jacobs C, Newton-John T, O’Shea R, McEwen A. Genetic counseling and testing practices for late-onset neurodegenerative disease: a systematic review. J Neurol. 2022;269:676–92.
  • White S, Jacobs C, Phillips J. Mainstreaming genetics and genomics: a systematic review of the barriers and facilitators for nurses and physicians in secondary and tertiary care. Genet Med. 2020;22:1149–55.
  • International Alliance of ALS/MND Associations T. Fundamental rights for people living with ALS/MND 2021 [updated April 2021. Available from: https://www.als-mnd.org/support-for-pals-cals/advocacy/pals-and-cals-rights/.
  • Klepek H, Nagaraja H, Goutman SA, Quick A, Kolb SJ, Roggenbuck J. Lack of consensus in ALS genetic testing practices and divergent views between ALS clinicians and patients. Amyotroph Lateral Scler Frontotemporal Degener. 2019;20:216–21.
  • Goldman J, Xie S, Green D, Naini A, Mansukhani MM, Marder K. Predictive testing for neurodegenerative diseases in the age of next-generation sequencing. J Genet Couns 2021;30:553–62. https://doi.org/10.1002/jgc4.1342
  • Chia-Chien H, Brian AS. The Delphi Technique: making sense of consensus. Practical Assessment, Research & Evaluation 2007;12:1–8.
  • Hasson F, Keeney S, McKenna H. Research guidelines for the Delphi survey technique. J Adv Nurs. 2000;32:1008–15.
  • McGrath M, Lever S, McCluskey A, Power E. Developing interventions to address sexuality after stroke: findings from a four-panel modified Delphi study. J Rehabil Med. 2019;51:352–60.
  • Harris PA, REDCap Consortium, Taylor R, Minor BL, Elliott V, Fernandez M, O'Neal L, et al. The REDCap consortium: building an international community of software platform partners. J Biomed Inform. 2019;95:103208.
  • Harris PA, Taylor R, Thielke R, Payne J, Gonzalez N, Conde JG. Research electronic data capture (REDCap): a metadata-driven methodology and workflow process for providing translational research informatics support. J Biomed Inform. 2009;42:377–81.
  • Diamond IR, Grant RC, Feldman BM, Pencharz PB, Ling SC, Moore AM, et al. Defining consensus: A systematic review recommends methodologic criteria for reporting of Delphi studies. J Clin Epidemiol. 2014;67:401–9.
  • Redlinger-Grosse K, MacFarlane IM, Cragun D, Zierhut H. A Delphi study to prioritize genetic counseling outcomes: What matters most. J Genet Couns 2021;30:676–92.
  • Weisser FB, Bristowe K, Jackson D. Experiences of burden, needs, rewards and resilience in family caregivers of people living with Motor Neurone Disease/Amyotrophic Lateral Sclerosis: a secondary thematic analysis of qualitative interviews. Palliat Med. 2015;29:737–45.
  • Gentry MT, the LEFFTDS Consortium, Lapid MI, Syrjanen J, Calvert K, Hughes S, Brushaber D, et al. Quality of life and caregiver burden in familial frontotemporal lobar degeneration: analyses of symptomatic and asymptomatic individuals within the LEFFTDS cohort. Alzheimer's & Dementia. 2020;16:1115–24.
  • Stoll K, Kubendran S, Cohen SA. The past, present and future of service delivery in genetic counseling: keeping up in the era of precision medicine. Am J Med Genet C Semin Med Genet. 2018;178:24–37.
  • Ormond KE, Laurino MY, Barlow‐Stewart K, Wessels TM, Macaulay S, Austin J, et al. Genetic counseling globally: where are we now? Am J Med Genet C Semin Med Genet. 2018;178:98–107.
  • Stoll KA, Mackison A, Allyse MA, Michie M. Conflicts of interest in genetic counseling: acknowledging and accepting. Genet Med. 2017;19:864–6.
  • Hawkins Virani AKH, Creighton SM, Hayden MR. Developing a comprehensive, effective patient-friendly website to enhance decision making in predictive testing for Huntington disease. Genet Med. 2013;15:466–72.
  • Fanos JH, Gronka S, Wuu J, Stanislaw C, Andersen PM, Benatar M. Impact of presymptomatic genetic testing for familial amyotrophic lateral sclerosis. Genet Med. 2011;13:342–8.
  • Hawkins AK, Creighton S, Ho A, McManus B, Hayden MR. Providing predictive testing for Huntington disease via telehealth: results of a pilot study in British Columbia, Canada. Clin Genet. 2013;84:60–4.
  • Salmon K, Anoja N, Breiner A, Chum M, Dionne A, Dupré N, et al. Genetic testing for amyotrophic lateral sclerosis in Canada – an assessment of current practices. Amyotroph Lateral Scler Frontotemporal Degener. 2021;1–8.
  • Roggenbuck J, Rich KA, Vicini L, Palettas M, Schroeder J, Zaleski C, et al. Amyotrophic lateral sclerosis genetic access program: paving the way for genetic characterization of ALS in the clinic. Neurol Genet. 2021;7:e615.
  • Powell C. The Delphi technique: myths and realities. J Adv Nurs. 2003;41:376–82.