The genetic counsellor role in the United Kingdom

Middleton, Anna; Taverner, Nicola; Moreton, Natalie; Rizzo, Roberta; Houghton, Catherine; Watt, Catherine J.; Horton, Esther; Levene, Sara; Leonard, Philip; Melville, Athalie; Ellis, Somya; Tripathi, Vishakha; Patch, Christine; Jenkins, E. G.

doi:10.1038/s41431-022-01212-9

Cited by 10 publications

(7 citation statements)

References 7 publications

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“…However, there was a heavy dependence on the genetic counsellors to help facilitate testing, paperwork and follow‐up in 93% of patients, rather than by the Paediatricians alone as intended. Increasingly, the key role of genetic counsellors in facilitating genomic mainstreaming/upskilling, and family care in the genomic era is being recognised, and this is reflected in our study 22–24 …”

Section: Discussionmentioning

confidence: 71%

“…Increasingly, the key role of genetic counsellors in facilitating genomic mainstreaming/upskilling, and family care in the genomic era is being recognised, and this is reflected in our study. [22][23][24] The Neurology MDTs discussed a large number of patients, engaged all the members of the Neurology department, and had a high yield of testing. However, in both MDTs, a large proportion of patients were either not tested, or recommendations for testing were not followed.…”

Section: Limitations and Areas For Further Studymentioning

confidence: 99%

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Genomic multidisciplinary teams: A model for navigating genetic mainstreaming and precision medicine

Ma,

Newing,

O'Shea

et al. 2024

J Paediatrics Child Health

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AimRecent rapid advances in genomics are revolutionising patient diagnosis and management of genetic conditions. However, this has led to many challenges in service provision, education and upskilling requirements for non‐genetics health‐care professionals and remuneration for genomic testing. In Australia, Medicare funding with a Paediatric genomic testing item for patients with intellectual disability or syndromic features has attempted to address this latter issue. The Sydney Children's Hospitals Network – Westmead (SCHN‐W) Clinical Genetics Department established Paediatric and Neurology genomic multidisciplinary team (MDT) meetings to address the Medicare‐specified requirement for discussion with clinical genetics, and increasing genomic testing advice requests.MethodsThis SCHN‐W genomic MDT was evaluated with two implementation science frameworks – the RE‐AIM (Reach, Effectiveness, Adoption, Implementation, Maintenance) and GMIR – Genomic Medicine Integrative Research frameworks. Data from June 2020 to July 2022 were synthesised and evaluated, as well as process mapping of the MDT service.ResultsA total of 205 patients were discussed in 34 MDT meetings, facilitating 148 genomic tests, of which 73 were Medicare eligible. This was equivalent to 26% of SCHN‐W genetics outpatient activity, and 13% of all Medicare‐funded paediatric genomic testing in NSW. 39% of patients received a genetic diagnosis.ConclusionThe genomic MDT facilitated increased genomic testing at a tertiary paediatric centre and is an effective model for mainstreaming and facilitating precision medicine. However, significant implementation issues were identified including cost and sustainability, as well as the high level of resourcing that will be required to scale up this approach to other areas of medicine.

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Section: Discussionmentioning

confidence: 71%

Section: Limitations and Areas For Further Studymentioning

confidence: 99%

Genomic multidisciplinary teams: A model for navigating genetic mainstreaming and precision medicine

Ma,

Newing,

O'Shea

et al. 2024

J Paediatrics Child Health

View full text Add to dashboard Cite

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“…As genomics becomes ever more visible within UK healthcare, genetic counsellors continue to carve out roles as essential mediators and interpreters of such data 46. In response to the expanding claims for genomics within the NHS, representatives of the AGNC recently published an updated description of the roles and scope of genetic counsellors in the UK, in which the authors explained that ‘genetic counsellors are playing a key role in enabling non-genetic health professionals learn, understand and integrate genomic data into their practice’ (Middleton et al 2023). Tracing the historical and ongoing dynamics of expertise around the interpretation and communication of genetic data is crucial for understanding how genetics has been, and continues to be, made meaningful and valuable to people, families and their communities.…”

Section: Discussionmentioning

confidence: 99%

Making the ‘genetic counsellor’ in the UK, 1980–1995

Bangham

2023

Med Humanities

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The professional identity of the ‘genetic counsellor’ first took shape in the UK in the early 1990s, when the University of Manchester established the country’s first masters-level training course. Postwar, genetic counselling had been carried out by (male) clinical geneticists, who, alongside their research, clinical and field-building activities, met patients and families to discuss inherited conditions and risk estimates, and who sometimes advised parents whether to attempt or continue pregnancies. By contrast, the new cohort of students in Manchester in the 1990s were not medically trained, were mostly women, and were schooled in the psychological and social consequences of genetic testing and diagnosis, as well as methods for the care, support and emotional management of patients and families. This was a significant change both in the practices of ‘genetic counselling’ and who was expected to practise it. Focusing on a small section of this history, between 1980 and 1995, this paper describes some of the historical threads that contributed to this change. It charts the early work of genetic nurses and social workers, who in the 1980s carved out distinctive roles within National Health Service genetics centres. It describes the separate, specialist provision developed by sickle cell and thalassaemia counsellors, who developed new approaches in dialogue with racialised and underserved patient communities. It examines growing interest in the late 1980s and early 1990s in the tacit social and cultural conditions of genetic counselling encounters, and how this cohered with attention from disability scholars, psychologists and social scientists. By describing these historical contributions, this paper explores how the intersecting gendered, racialised and disciplinary politics of clinical genetics shaped the new professional role of the ‘genetic counsellor’.

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“…The international landscape of sexual and reproductive health in the twentyfirst century remains highly dynamic. As the proliferation of genomic data undergoes rapid expansion in healthcare systems around the world, questions are being asked about how it will be interpreted, and who will counsel and advocate for patients and families (Navon 2019;Middleton et al 2022). Elsewhere, the promises that accompany the expansion and availability of fertility treatments are changing individuals' expectations of how they will have babies and when, while the high cost of those technologies means that access remains highly stratified (Smietana, Thompson, and Twine 2018;van de Wiel 2020).…”

Section: Disciplining Emotionsmentioning

confidence: 99%