Delivering genome sequencing in clinical practice: an interview study with healthcare professionals involved in the 100 000 Genomes Project

SANDERSON, Saskia C, HILL, Melissa, PATCH, Christine, SEARLE, Beverly, LEWIS, Celine and CHITTY, Lyn S (2019). Delivering genome sequencing in clinical practice: an interview study with healthcare professionals involved in the 100 000 Genomes Project. BMJ Open, 9, e029699.

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Objectives: Genome sequencing is poised to be incorporated into clinical care for diagnoses of rare diseases and some cancers in many parts of the world. Healthcare professionals are key stakeholders in the clinical delivery of genome sequencing-based services. Our aim was to explore views of healthcare professionals with experience of offering genome sequencing via the 100 000 Genomes Project. Design: Interview study using thematic analysis. Setting: Four National Health Service hospitals in London. Participants: Twenty-three healthcare professionals (five genetic clinicians and eight non-genetic clinicians (all consultants), and 10 ‘consenters’ from a range of backgrounds) involved in identifying or consenting patients for the 100 000 Genomes Project. Results: Most participants expressed positive attitudes towards genome sequencing in terms of improved ability to diagnose rare diseases, but many also expressed concerns, with some believing its superiority over exome sequencing had not yet been demonstrated, or worrying that non-genetic clinicians are inadequately prepared to discuss genome sequencing results with patients. Several emphasised additional evidence about utility of genome sequencing in terms of both main and secondary findings is needed. Most felt non-genetic clinicians could support patients during consent, as long as they have appropriate training and support from genetic teams. Many stated genetics experts will play a vital role in training and supporting non-genetic clinicians in variant interpretation and results delivery, particularly for more complex cases. Conclusions: Healthcare professionals responsible for delivering clinical genome sequencing have largely positive views about the potential for genome sequencing to improve diagnostic yield, but also significant concerns about practical aspects of offering these tests. Non-genetic clinicians delivering genome sequencing require guidance and support. Additional empirical evidence is needed to inform policy and practice, including how genome compares to exome sequencing; utility of secondary findings; training, in particular of non-genetic health professionals; and mechanisms whereby genetics teams can offer appropriate support to their non-genetics colleagues.

Item Type: Article
Additional Information: ** From BMJ via Jisc Publications Router ** Licence for this article: **Journal IDs: eissn 2044-6055 **Article IDs: publisher-id: bmjopen-2019-029699 **History: published_online 02-11-2019; published 11-2019; accepted 15-10-2019; rev-recd 10-07-2019; submitted 21-02-2019
Uncontrolled Keywords: Genetics and genomics, 1506, 1697, genome sequencing, next-generation sequencing, medical education and training, qualitative research, interviews
Identification Number:
Page Range: e029699
SWORD Depositor: Justine Gavin
Depositing User: Justine Gavin
Date Deposited: 13 Nov 2019 10:03
Last Modified: 18 Mar 2021 03:19

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