20.07.10 Future of genetics- restructuring

Question 1

What is the NHS Genomic Medicine Service

Answer 1

• Set up in March 2017 by NHS England
• Builds on 100k genome project
• Launched October 2018
• Aims to provide consistent and equitable access to cutting edge genomic testing in England (55 million people)

Question 2

What are the 6 key elements of National Genomic Medicine Service

Answer 2

• National genomic testing service delivered through a network of genomic laboratory hubs (GLHs)
• National Genomic Test Directory defines the testing available in the NHS and the technology to deliver it.
• National WGS provision and supporting infrastructure developed in partnership with Genomics England
• Integrated clinical genetics service, including genetic counselling for rare and inherited diseases and cancer.
• Regional infrastructure (GMS alliances) built on 100k genomes project infrastructure. To support the systematic embedding of genomic medicine
• National implementation, coordination and oversight function in NHSE

Question 3

What are the benefits to systematic application of genomic technologies to patient lives

Answer 3

• Quicker diagnosis
• Matching people to the most effective medications and interventions, reducing the likelihood of adverse drug reactions.
• Increasing the number of people surviving cancer due to more accurate and early diagnosis with more effective use of therapies.

Question 4

Purpose of reconfiguration of genetic laboratory services

Answer 4

• Consolidate resources to deliver optimum genetic testing.
• Most cost effective
• More equitable

Question 5

Describe the new configuration of genetic laboratory services

Answer 5

1. Genomics England Sequencing Centre: provides centralised sequencing for 100k and now WGS service. May be more cost effective or clinically relevant to do in house if labs have the equipment etc.
2. Genomics Laboratory Hubs (GLH)- offer routine diagnostic clinical sequence and complex genome analysis. Specialise in particular areas to avoid duplication of effort.
3. Genomics Local Laboratory Hubs: support the work of GLH.

Question 6

What are GMS alliances

Answer 6

• New infrastructure being put in place by NHSE and NHS improvement.
• Embedding of genomic medicine within region.
• provider partnership and will establish a network with NHS providers and organisations across the geography.
• To be established in Autumn 2020

Question 7

What are GMS alliances accountable for

Answer 7

• Equitable patient access to standardised end to end care pathways (including genomic testing and counselling)
• Equitable patient access to personalised treatments driven by genomic and diagnostic characterisation
• Systematic consideration of eligibility to clinical trials for patients who would potentially benefit
• Active participation in nationally coordinated genomic research and discovery.

Question 8

Why are molecular and cytogenetics becoming more integrated

Answer 8

• Due to changes in technology: NGS, microarrays
• Improves communication between two disciplines
• increased flexibility (cross training)

Question 9

How have training schemes been reflecting the integration of molecular and cytogenetics

Answer 9

• Clinical scientists are being trained in both disciplines
• Reflected by Modernising scientific careers (MSC), STP HSST
• Joint FRCPath exam
• expectation that senior scientists can authorise reports across traditional disciplinary borders.

Question 10

How is genetic service changing

Answer 10

• Greater reliance on bioinformatics as arrays and NGS is used more routinely. More reliance on data sharing between labs. Reflected with introduction of STP in clinical bioinformatics.
• Introduction of more integrated LIMS (lab information management systems), reports for 1 patient from various departments in pathology are on one system.
• More molecular based testing and reduced traditional cytogenetic methods (apart from malignancy, e.g .CML). Switch to SNP arrays to detect UPD as well as CNVs.
• Introduction of non-invasive prenatal testing. Prenatal arrays for abnormal ultrasounds.
• More molecular testing for targeted therapies in oncology, also NGS for diagnosis. More MRD testing and monitoring.
• Pharmacogenetics: partnerships with pharmaceutical companies to develop new drugs.