Challenges in implementing genomic medicine: the 100,000 Genomes Project

Abstract

Many important medical conditions may be the result of an inherited mutation in one of a number of different genes. Technical advances have reduced the cost of whole genome sequencing and whole exome sequencing to a level where it is now feasible to analyse multiple genes in one test. Every human carries several hundred potentially pathogenic coding variants, so a major challenge is to understand which of these is relevant to the patient’s disease. This requires considerable computing power, the use of international unaffected “normal” population and disease cohort databases, clinical scientist input as well as a medical context provided by accurate phenotyping and understanding of Bayesian probability. The guidelines of the American College of Medical Genetics provide a useful framework for the evaluation and reporting of sequence variants. In England, the 100,000 Genomes Project was established within the National Health Service to introduce these technologies into mainstream healthcare. From January 2019, genomic laboratory hubs will deliver a genomics service. In this paper, we review what has been learnt from the project to date and consider how other health care systems could use similar approaches.

Keywords

Genomic medicine / personalised medicine / road map / transformation

References

[1] National Health Service. 100,000 Genomes Project Eligibility Wheels Library. Available from: https://www.genomicseducation.hee.nhs.uk/taught-courses/eligibility-wheels-library/. [Last accessed on 4 Sep 208]

[2] SNOMED International. Leading healthcare terminology worldwide. Available from: https://www.snomed.org/participate. [Last accessed on 4 Sep 2018]

[3] Genomics England PanelApp. A crowdsourcing tool to allow gene panels to be shared, downloaded, viewed and evaluated by the scientific community. Available from: https://panelapp.genomicsengland.co.uk/panels/. [Last accessed on 4 Sep 2018]

[4] Genomics England. Working with participants, patient groups and the public. Available from: https://www.genomicsengland.co.uk/about-genomics-england/how-we-work/patient-and-public-involvement/. [Last accessed on Sep 2018]

[5] UK Parliament. Genomics and genome-editing inquiry. Available from: https://www.parliament.uk/business/committees/committees-a-z/commons-select/science-and-technology-committee/inquiries/parliament-201/inquiry2/. [Last accessed on 4 Sep 2018]

[6] Davies PDSC, Department of Health. Annual report of the chief medical officer 201: generation genome. Available from: https://assets.publishing.service.gov.uk/government/uploads/system/uploads/attachment_data/file/31043/CMO_annual_report_generation_genome.pdf. [Last accessed on 4 Sep 2018]

[7] EvansDG,EcclesDM,IzattL,DonaldsonA,CuthbertA,ThomasS,MiedzybrodzkaZ.The Angelina Jolie effect: how high celebrity profile can have a major impact on provision of cancer related services.Breast Cancer Res2014;16:442 PMCID:PMC4303122

[8] Sisters help launch cancer study aiming to end chemotherapy - BBC News. Available from: https://www.bbc.co.uk/news/health-35323066. [Last accessed on 4 Sep 2018]

[9] AllfordA,BarwellJ,KaiJ.What hinders minority ethnic access to cancer genetics services and what may help?.Eur J Hum Genet2014;22:866-74 PMCID:PMC4060110

[10] UK Pharmacogenetics & Stratified Medicine Network. 4th annual open meeting. Available from: http://www.uk-pgx-stratmed.co.uk/images/stories/Publications/OnlineBrochure.pdf. [Last accessed on 4 Sep 2018]

[11] National Cancer Research Insitute. Can the 321 triage system reduce the number of late referrals for familial cancer syndromes. Available from: http://abstracts.ncri.org.uk/abstract/can-the-321-triage-system-reduce-the-number-of-late-referrals-for-familial-cancer-syndromes/. [Last accessed on 4 Sep 2018]

[12] Genomics Education Programme. Preparing for the future of healthcare. Available from: https://hee.nhs.uk/our-work/genomics-education. [Last accessed on 4 Sep 2018]

[13] National Health Service. Master's in Genomic Medicine. Available from: https://www.genomicseducation.hee.nhs.uk/taught-courses/courses/masters-in-genomic-medicine/. [Last accessed on 4 Sep 2018]

[14] National Health Service. UK Genetic Testing Network. Available from: https://ukgtn.nhs.uk/find-a-test/. [Last accessed on 4 Sep 2018]