A survey of current practice in genetic testing in amyotrophic lateral sclerosis in the UK and Republic of Ireland: implications for future planning

Oliveira, Hugo M De; Soma, Arunachalam; Baker, Mark R.; Turner, Martin R; Talbot, Kevin; Williams, Timothy

doi:10.1080/21678421.2022.2150556

Cited by 5 publications

(4 citation statements)

References 26 publications

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“…A recent survey of English neurology consultants identified variability in offering GS for pwMND; less than 50% would discuss GS with newly diagnosed pwMND. 10 Our findings illustrate a low proportion of neurology clinicians discuss the possibility of predictive genetic testing. A recent global survey of neurologists found that only 48% discuss predictive testing.…”

Section: Discussionmentioning

confidence: 80%

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: 80%

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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“…The current public-facing and staff resources are a starting point, yet a standardized approach is needed to ensure equitable access to tailored information and training. The research landscape around MND genetic testing, predictive testing and personalized medicine is rapidly increasing ( 6 ). Staff require upskilling to support proactively the conversations around these complex genetics of MND, and their consequences for pwMND and their family members.…”

Section: Discussionmentioning

confidence: 99%

A report of resources used by clinicians in the UK to support motor neuron disease genomic testing

Howard,

Bekker,

Mcdermott

et al. 2024

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

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Genetic testing is a key decision-making point for people with motor neuron disease (MND); to establish eligibility for clinical trials, better understand the cause of their condition, and confirm the potential risk to relatives, who may be able to access predictive testing. Given the wide-reaching implications of MND genetic and predictive testing, it is essential that families are given adequate information, and that staff are provided with appropriate training. In this report we overview the information resources available to people with MND and family members around genetic testing, and the educational and training resources available to staff, based on information obtained through a freedom of information request to UK-based NHS Trusts. MND Association resources were most commonly used in information sharing, though we highlight distinctions between neurology and genetics centers. No respondents identified comprehensive training around MND genetic testing. We conclude with practice implications and priorities for the development of resources and training.

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“…1 It is predicted that increasing numbers of people with MND will access genetic testing, a consequence of widening eligibility criteria and genetically targeted clinical trials (with one genetically targeted therapy suggesting clinical benefit). [2][3][4] This means more family members will become aware of their increased risk of developing the condition. The genetics of MND are complex, 5 but it is suggested that in up to 20% of people with MND, a pathogenic variant can be identified.…”

Section: Introductionmentioning

confidence: 99%

“…The typical survival from symptom onset is 2–5 years 1 . It is predicted that increasing numbers of people with MND will access genetic testing, a consequence of widening eligibility criteria and genetically targeted clinical trials (with one genetically targeted therapy suggesting clinical benefit) 2–4 . This means more family members will become aware of their increased risk of developing the condition.…”

Section: Introductionmentioning

confidence: 99%

Fluctuating salience in those living with genetic risk of motor neuron disease: A qualitative interview study

Howard,

Mazanderani,

Keenan

et al. 2024

Health Expectations

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BackgroundMotor neuron disease (MND) (also known as amyotrophic lateral sclerosis) is a life‐limiting neurodegenerative condition. In up to 20% of people with MND, a pathogenic variant associated with autosomal dominant inheritance can be identified. Children of people carrying a pathogenic variant have a 50% chance of inheriting this and a higher, although harder to predict, chance of developing the disease compared to the general adult population. This paper explores the experience of living with the genetic risk of MND.MethodsWe undertook a UK‐based interview study with 35 individuals, including: 7 people living with genetically‐mediated forms of MND; 24 asymptomatic relatives, the majority of whom had an increased risk of developing the disease; and 4 unrelated partners.ResultsWe explore how individuals make sense of genetic risk, unpacking the interplay between genetic knowledge, personal perception, experiences of the disease in the family, age and life stage and the implications that living with risk has for different aspects of their lives. We balance an emphasis on the emotional and psychological impact described by participants, with a recognition that the salience of risk fluctuates over time. Furthermore, we highlight the diverse strategies and approaches people employ to live well in the face of uncertainty and the complex ways they engage with the possibility of developing symptoms in the future. Finally, we outline the need for open‐ended, tailored support and information provision.ConclusionsDrawing on wider literature on genetic risk, we foreground how knowledge of MND risk can disrupt individuals' taken‐for‐granted assumptions on life and perceptions of the future, but also its contextuality, whereby its relevance becomes more prominent at critical junctures. This research has been used in the development of a public‐facing resource on the healthtalk.org website.Patient or Public ContributionPeople with experience of living with genetic risk were involved throughout the design and conduct of the study and advised on aspects including the topic guide, sampling and recruitment and the developing analysis. Two patient and public involvement contributors joined a formal advisory panel.

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A survey of current practice in genetic testing in amyotrophic lateral sclerosis in the UK and Republic of Ireland: implications for future planning

Cited by 5 publications

References 26 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

A report of resources used by clinicians in the UK to support motor neuron disease genomic testing

Fluctuating salience in those living with genetic risk of motor neuron disease: A qualitative interview study

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