100,000 Genomes Project & Mainstreaming Genomic Medicine Tracie

100,000 Genomes Project & Mainstreaming Genomic Medicine Tracie Miles RGN , PhD.

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NHS Genomic Medicine Centres NHS Genomic Medicine Centres (NHS GMCs) : mapped against AHSN boundaries NHS GMCs work in partnership with academia, patients and industry through the AHSNs Courtesy of Genomics England

What did it mean for staff to support the GPs 100,000 Genomes Project? Patient Pathology Imaging Surgeons Consultants Nursing staff Specialists Breast Care Nurses Research team Clinic management MDT co-ordinators Theatre team Specimen transport team IT experts How do you develop a pathway? – the key is engagement at every Blood laboratory step of the pathway .Introduction Managers to the 100,000 Genomes Project Reception Tumour laboratory 4 Processing 4

100,000 Genomes Project: National Update – September 2018 Genomes Samples 90,000 Samples collected from NHS GMCs 25,126 Analysis and Reports Reports for 81,179 10,000 families sent to GMCs genomes sequenced (equivalent to over 20,000 genomes) Scaling up 6,000 genomes from cancer patients available for review 65,064 20% actionable findings Improving Turnaround Time 10.0 rapidly increasing whole genome sequencing capacity Research data available in anonymised fashion As of 24/09/2018 Updated from Genomics England & NHS England

The national infrastructure for genomic medicine Political oversight: Dept. of Health & Ministerial Board Strategic Oversight Slide reproduced from NHS England SRO team NHS Genomic Medicine Service National Network of Genomic Laboratories Genomic Medicine Centres & Genomic Clinical Services Informatics systems & data store Whole Genome Sequencing Provision Workforce development upskilling of existing staff & ongoing professional engagement in conjunction with Health Education England National Testing Directory Genomics Data Interpretation Industry/ academic/ international partnerships supporting ongoing research & development through clinical care Advances in genomic & informatics technologies & other next generation diagnostics informing policy, strategy & regulation with Genomics England

Mainstreaming genomic medicine - Beyond 1st October 2018 Genomic Medicine Service Genetics Laboratory Hubs: - 7 nationally commissioned laboratory hubs - National Directory for all genetic & genomic testing Genomic Laboratory Hubs Cancer Services Genomic Medicine Centres Clinical Genetics Services Genomic Medicine Centres: - Support transition from project to clinical practice Clinical Genetics Services: - Review of services to ensure support and equity Cancer Services: - Supporting 100,000 Genomes patients 7 and future genomics pathways

National Genomic Laboratory Hubs 7 Genomic Laboratory Hubs commissioned to deliver a national genomic test directory Whole genome sequencing in place for a limited number of tumours – Sarcoma, paediatric and acute leukaemia (from Jan19) Nationally standardised panels for somatic (tumour) variants Nationally standardised commissioning for germline variants to test cancer susceptibility Annual review of test directory to update at national level test provision across country 8

Developing the return of results pathway Locally Genomic Medicine Centres are developing pathways to return results to patients. Many of the cancer patients are post treatment and on follow up. ft a r n d C tur M re G E lts way W su th re a 9

Return of Results Pathway – Key Principles 1. All patients will have their germline variants assessed (to check for inherited cancer susceptibility) 2. Clinical colleagues to define which 100,0000 Genomes patients are on ‘active pathways’ when results are returned (this will determine analysis of tumour genome) Patients on active pathway somatic (tumour) variants reviewed Patients not on active pathway feedback to clinical team and patient ‘no actionable findings at this time’ 3. If patient relapses clinical team can request analysis of the sampled tumour genome if likely to impact clinical care 10

Return of Results Pathway - Practical Support 1. Genomic Practitioner for legacy support until March 2018 – – Support clinical liaison Feedback to patients that are not on active pathways 2. Liaison with clinical team to ensure results are understood and available in notes 11

Format adapted from Genomics England Providing actionable information for cancer patients Prognosis Diagnosis Clinical Trials Cancer Molecular Markers Image taken from Wikipedia Therapy selection Image taken from NHS E Cancer susceptibility

Providing information regarding cancer susceptibility Identify patients with germline variants (BRCA) Significance for wider family Support and referral to genetics teams

Providing personalised medicine NHSE: Improving Outcomes through Personalised Medicine, September 2016