Abstract
With genomic testing being increasingly integrated into every day clinical practice and a wide range of practitioners ordering genetic tests, it is important that the scope of the genetic counselling role continues to evolve alongside these changes. We present an exemplary role for genetic counsellors in a highly specialised service within England’s National Health Service for people who have or are suspected to have rare genetic types of Ehlers Danlos syndrome. The service employs genetic counsellors and consultants from the fields of genetics and dermatology. The service also works closely with other specialists and related charities and patient organisations. The genetic counsellors in the service provide routine genetic counselling such as diagnostic and predictive testing, but their role also includes the writing of patient literature and emergency and well-being resources, delivering workshops and talks, and the development of qualitative and quantitative research on the patient experience. Data from such research has informed the development of patient self-advocacy and supportive resources, raised awareness amongst healthcare professionals and enhanced the standard of care and outcomes for patients. The service aims to be an example of innovation and accessibility and provides a model that can be potentially adopted by other highly specialised services of rare genetic diseases.
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Acknowledgements
We want to thank Julie Leary, Cherida Watkins, Yvonne Bedford and Dawn Keyworth for their coordination of the EDS service. We would also like to thank the highly specialised commissioning team of NHS England for their ongoing support. Finally, thanks must go to the people that we see in the EDS service from whom we are continually learning.
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The idea for the report and first draft of the manuscript including literature review was undertaken by Juliette Harris. All authors were given the opportunity to comment on previous versions of the manuscript. All authors approved the final manuscript.
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All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (5).
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Harris, J., Bartlett, M., Baker, D. et al. An exemplary model of genetic counselling for highly specialised services. J Community Genet 14, 115–119 (2023). https://doi.org/10.1007/s12687-023-00640-4
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DOI: https://doi.org/10.1007/s12687-023-00640-4