RT Journal Article
SR Electronic
T1 Delivering genome sequencing in clinical practice: an interview study with healthcare professionals involved in the 100 000 Genomes Project
JF BMJ Open
JO BMJ Open
FD British Medical Journal Publishing Group
SP e029699
DO 10.1136/bmjopen-2019-029699
VO 9
IS 11
A1 Saskia C Sanderson
A1 Melissa Hill
A1 Christine Patch
A1 Beverly Searle
A1 Celine Lewis
A1 Lyn S Chitty
YR 2019
UL http://bmjopen.bmj.com/content/9/11/e029699.abstract
AB 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.