Evidence‐based consensus guidelines for <scp>ALS</scp> genetic testing and counseling

Roggenbuck, Jennifer; Eubank, Breda H. F.; Wright, Joshua; Harms, Matthew B.; Kolb, Stephen J.; ,

doi:10.1002/acn3.51895

Cited by 10 publications

(1 citation statement)

References 101 publications

(377 reference statements)

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“…Training curricula for neurology clinicians need revision to include relevant aspects of genomics, and educational resources (eg, the NHS Genomics Education Programme) could be updated to include details on more complex aspects of MND genomic testing and clinician guidelines produced. 16 17 Additionally, neurology clinicians cited a lack of resources to support genomic testing discussions for pwMND, which suggests that pwMND may lack important information and guidance when considering genomic testing options. Resources such as information leaflets, videos or patient decision aids could be developed to fill this gap.…”

Section: Discussionmentioning

confidence: 99%

Survey of service needs to embed genome sequencing for motor neuron disease in neurology in the English National Health Service

Howard,

Bekker,

McDermott

et al. 2024

J Med Genet

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All people with motor neuron disease (pwMND) in England are eligible for genome sequencing (GS), with panel-based testing. With the advent of genetically targeted MND treatments, and increasing demand for GS, it is important that clinicians have the knowledge and skills to support pwMND in making informed decisions around GS. We undertook an online survey of clinical genomic knowledge and genetic counselling skills in English clinicians who see pwMND. There were 245 respondents to the survey (160 neurology clinicians and 85 genetic clinicians). Neurology clinicians reported multiple, overlapping barriers to offering pwMND GS. Lack of time to discuss GS in clinic and lack of training in genetics were reported. Neurology clinicians scored significantly less well on self-rated genomic knowledge and genetic counselling skills than genetic clinicians. The majority of neurology clinicians reported that they do not have adequate educational or patient information resources to support GS discussions. We identify low levels of genomic knowledge and skills in the neurology workforce. This may impede access to GS and precision medicine for pwMND.

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Section: Discussionmentioning

confidence: 99%

Survey of service needs to embed genome sequencing for motor neuron disease in neurology in the English National Health Service

Howard,

Bekker,

McDermott

et al. 2024

J Med Genet

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ALS Identified: two‐year findings from a sponsored ALS genetic testing program

Goutman,

Goyal,

Payne

et al. 2024

Ann Clin Transl Neurol

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ObjectiveTo report initial results from the Amyotrophic Lateral Sclerosis (ALS) Identified genetic testing (GT) program on characteristics of individuals tested and frequency of reported disease‐causing variants.MethodsALS Identified used the Invitae Amyotrophic Lateral Sclerosis panel (Invitae, San Francisco, CA, USA) to assay 22 ALS‐associated genes. Sponsored by Biogen (Cambridge, MA, USA), the program was launched in June 2021 and was available at no charge to individuals ≥18 years in the United States and Puerto Rico with an ALS diagnosis or a known family history of ALS. Deidentified data were available to Biogen.ResultsAs of 26 October 2023, 998 healthcare professionals ordered the panel at 681 unique care sites. Of 8054 individuals examined, 7483 (92.9%) were reported to have a clinical diagnosis of ALS, while 571 (7.1%) were asymptomatic relatives. Of the individuals with a clinical ALS diagnosis, 57.7% were male (n = 4319) and 42.3% female (n = 3164). Mean (SD) age at diagnosis is 62 (13) years. Out of the 7483 clinically diagnosed individuals, 1810 (24.2%) showed genetic variations in ALS‐associated genes. Among these, 865 individuals (47.8%) carried pathogenic variants, and 44 (2.4%) had likely pathogenic variants, totaling 12.1% of the clinically diagnosed population.InterpretationSince 2021 there has been robust uptake and sustained use of the ALS Identified program, one of the largest samples of people with ALS to date across the United States, demonstrating the interest and need for genetic ALS testing.

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Individuals' experiences in genetic counseling and predictive testing for familial amyotrophic lateral sclerosis

Steigerwald,

Bertolini,

McElhiney

et al. 2024

Journal of Genetic Counseling

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As clinical genetic testing in the amyotrophic lateral sclerosis (ALS) diagnostic setting increases, the identification of at‐risk family members has also expanded. No practice guidelines specifically for predictive genetic testing exist, and few studies about the psychological impacts of testing in this subgroup have occurred, limiting the ability to tailor recommendations and counseling in this community. We surveyed asymptomatic individuals at risk for inheriting an ALS‐associated gene mutation. The 80‐question survey was designed using a combination of validated measures (General Anxiety Disorder; FACToR; Decision Regret Scale) and original items. Ninety participants completed the survey, including those who completed predictive genetic testing (N = 42) and those who did not (N = 48). Gene positive individuals experienced greater negativity, uncertainty, and overall psychological impairment (p = 0.002; p < 0.001; p = 0.001). Individuals who had not undergone testing reported thinking about their risk multiple times per day and experiencing more decisional regret than those who tested (p = 0.006). In terms of decision‐making, being prepared for potential clinical drug trials was a more important potential benefit among those who underwent testing (p = 0.026). Participants valuing preparedness for clinical drug trials supports the concept that genetic testing for ALS will increase as research in gene‐targeted therapeutics progresses. This study describes factors relevant to the genetic testing decision‐making process and adaptation to results from the perspective of at‐risk individuals, which can ultimately guide genetic counseling practice in this population.

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Evidence‐based consensus guidelines for ALS genetic testing and counseling

Cited by 10 publications

References 101 publications

Survey of service needs to embed genome sequencing for motor neuron disease in neurology in the English National Health Service

Survey of service needs to embed genome sequencing for motor neuron disease in neurology in the English National Health Service

ALS Identified: two‐year findings from a sponsored ALS genetic testing program

Individuals' experiences in genetic counseling and predictive testing for familial amyotrophic lateral sclerosis

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