Insights from early experience of a Rare Disease Genomic Medicine Multidisciplinary Team: a qualitative study.
Whole-exome/whole-genome sequencing (WES/WGS) has the potential to enhance genetic diagnosis of rare disease, and is increasingly becoming part of routine clinical care in mainstream medicine. Effective translation will require ongoing efforts in a number of areas including: selection of appropriate patients, provision of effective consent, pre- and post-test genetic counselling, improving variant interpretation algorithms and practices, and management of secondary findings including those found incidentally and those actively sought. Allied to this is the need for an effective education programme for all members of clinical teams involved in care of patients with rare disease, as well as to maintain public confidence in the use of these technologies. We established a Genomic Medicine Multidisciplinary Team (GM-MDT) in 2014 to build on the experiences of earlier successful research-based WES/WGS studies, to address these needs and to review results including pertinent and secondary findings. Here we report on a qualitative study of decision-making in the GM-MDT combined with analysis of semi-structured interviews with GM-MDT members. Study findings show that members appreciate the clinical and scientific diversity of the GM-MDT and value it for education and oversight. To date, discussions have focussed on case selection including the extent and interpretation of clinical and family history information required to establish likely monogenic aetiology and inheritance model. Achieving a balance between effective use of WES/WGS - prioritising cases in a diverse and highly complex patient population where WES/WGS will be tractable - and meeting the recruitment targets of a large project is considered challenging.
Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.|National Institute for Health Research (NIHR) Biomedical Research Centre, Oxford, UK.
Elizabeth
E
Ormondroyd
Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.|Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Michael P
MP
Mackley
National Institute for Health Research (NIHR) Biomedical Research Centre, Oxford, UK.|Department of Clinical Genetics, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Edward
E
Blair
Oxford NHS Regional Molecular Genetics Laboratory, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Jude
J
Craft
Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Julian C
JC
Knight
Oxford NHS Regional Molecular Genetics Laboratory, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
John
J
Taylor
National Institute for Health Research (NIHR) Biomedical Research Centre, Oxford, UK.|Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Jenny C
JC
Taylor
Department of Clinical Genetics, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.|Clinical Genetics Group, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
Andrew Om
AO
Wilkie
Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.|National Institute for Health Research (NIHR) Biomedical Research Centre, Oxford, UK.|Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Hugh
H
Watkins
D000066491:Clinical Decision-Making; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D005820:Genetic Testing / Q000592:standards*; D005826:Genetics, Medical / Q000458:organization & administration / Q000592:standards*; D006801:Humans; D010348:Patient Care Team / Q000458:organization & administration* / Q000592:standards; D035583:Rare Diseases / Q000235:genetics*