Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2017 Jun;25(6):680-686.
doi: 10.1038/ejhg.2017.37. Epub 2017 Mar 22.

Insights from early experience of a Rare Disease Genomic Medicine Multidisciplinary Team: a qualitative study

Elizabeth Ormondroyd  1   2 , Michael P Mackley  1   3 , Edward Blair  2   4 , Jude Craft  5 , Julian C Knight  3 , John Taylor  5 , Jenny C Taylor  2   3 , Andrew Om Wilkie  4   6 , Hugh Watkins  1   2   3
Affiliations

Insights from early experience of a Rare Disease Genomic Medicine Multidisciplinary Team: a qualitative study

Elizabeth Ormondroyd et al. Eur J Hum Genet. 2017 Jun.

Abstract

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.

PubMed Disclaimer

Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
GM-MDT approval process. *Denotes stage at which documents are generated.
Figure 2
Figure 2
Cases submitted to GM-MDT by speciality.
Figure 3
Figure 3
Sequencing stream of cases approved by GM-MDT. HICF2, Health Innovation Challenge Fund; 100,000 GP, Genomics England 100K Genomes Project.
See this image and copyright information in PMC

References

    1. Biesecker LG, Green RC: Diagnostic clinical genome and exome sequencing. N Engl J Med 2014; 370: 2418–2425. - PubMed
    1. Beaulieu CL, Majewski J, Schwartzentruber J et al: FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project. Am J Hum Genet 2014; 94: 809–817. - PMC - PubMed
    1. Taylor JC, Martin HC, Lise S et al: Factors influencing success of clinical genome sequencing across a broad spectrum of disorders. Nat Genet 2015; 47: 717–726. - PMC - PubMed
    1. Bamshad MJ, Ng SB, Bigham AW et al: Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet 2011; 12: 745–755. - PubMed
    1. Boycott KM, Vanstone MR, Bulman DE, MacKenzie AE: Rare-disease genetics in the era of next-generation sequencing: discovery to translation. Nat Rev Genet 2013; 14: 681–691. - PubMed

Publication types

MeSH terms