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The future is mainstream: genetic counselling should be embedded in mainstream medicine

European Journal of Human Genetics volume 31, pages 1097–1098 (2023)Cite this article

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A Correction to this article was published on 19 June 2023

This article has been updated

It is estimated that there are more than 7000 genetic counsellors working globally across 28 different countries [1]. In the UK and Australia, genetic counsellors usually work within regional clinical genetics services [1].

Yanes et al. describe a mainstreaming model of care, whereby a genetic counsellor is embedded in a paediatric immunology and allergy department in Queensland, Australia [2]. The authors describe already established mainstream models of care, primarily in oncology. Similar mainstream models have been established in areas such as nephrology [3], paediatrics [4] and in highly specialised services, such as aortopathy [5].

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References

  1. Abacan MA, Alsubaie L, Barlow-Stewart K, Caanen B, Cordier C, Courtney E, et al. The global state of the genetic counseling profession. Eur J Hum Genet. 2018;27:183–97.

    Article  PubMed  PubMed Central  Google Scholar 

  2. Yanes T, Sullivan A, Barbaro P, Brion K, Hollway G, Peake J, et al. Evaluation and pilot testing of a multidisciplinary model of care to mainstream genomic testing for paediatric inborn errors of immunity. Eur J Hum Genet. 2023; https://doi.org/10.1038/s41431-023-01321-z.

  3. Elliott MD, James LC, Simms EL, Sharma P, Girard LP, Cheema K, et al. Mainstreaming genetic testing for adult patients with autosomal dominant polycystic kidney disease. Can J Kidney Health Dis. 2021;8:205435812110550.

    Article  Google Scholar 

  4. McGlynn JA, Langfelder-Schwind E. Bridging the gap between scientific advancement and real-world application: pediatric genetic counseling for common syndromes and single-gene disorders. Cold Spring Harbor Perspectives in Medicine. 2019;10:a036640.

  5. Harris J, Bartlett M, Baker D, Berlin C, Bowen J, Cummings C, et al. An exemplary model of genetic counselling for highly specialised services. J Community Genet. 2023;14:115–9.

    Article  PubMed  PubMed Central  Google Scholar 

  6. National Genomic Test Directory. NHS choices. NHS; 2023. https://www.england.nhs.uk/publication/national-genomic-test-directories/.

  7. Bell SC, Mall MA, Gutierrez H, Macek M, Madge S, Davies JC, et al. The future of cystic fibrosis care: a global perspective. Lancet Respir Med. 2020;8:65–124.

    Article  CAS  PubMed  Google Scholar 

  8. Escobar-Lopez L, Ochoa JP, Mirelis JG, Espinosa MÁ, Navarro M, Gallego-Delgado M, et al. Association of genetic variants with outcomes in patients with nonischemic dilated cardiomyopathy. J Am Coll Cardiol. 2021;78:1682–99.

    Article  CAS  PubMed  Google Scholar 

  9. Quinn E, Mazur K. The experiences of UK-based genetic counsellors working in mainstream settings. Eur J Hum Genet. 2022;30:1283–7.

    Article  PubMed  PubMed Central  Google Scholar 

  10. Sanderson SC, Hill M, Patch C, Searle B, Lewis C, Chitty LS. Delivering genome sequencing in clinical practice: an interview study with healthcare professionals involved in the 100 000 genomes project. BMJ Open. 2019;9:e029699.

    Article  PubMed  PubMed Central  Google Scholar 

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  1. Royal Brompton & Harefield Hospitals, London, England, UK

    Ellie Quinn

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  1. Ellie Quinn
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Correspondence to Ellie Quinn.

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The original online version of this article was revised: Ref. 2 was missing. References were renumbered according to do that.

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Quinn, E. The future is mainstream: genetic counselling should be embedded in mainstream medicine. Eur J Hum Genet 31, 1097–1098 (2023). https://doi.org/10.1038/s41431-023-01393-x

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