19.07.09 Future of genetics- service delivery

Question 1

What is the population size that NHS genomic medicine service will cover

Answer 1

55 million

Question 2

Aim of Genomic medicine service restructuring

Answer 2

To provide consistent, equitable access.

Question 3

What does the NHS Genomic Medicine Service comprise

Answer 3

• 7 Genomic laboratory Hubs
• National Genomic test Directory. Covers rare, inherited and cancer disorders. From single gene to genome.
• WGS provision. Including data and informatic infrastructure.
• Integrated clinical service
• A national coordinating function.

Question 4

Purpose of reconfiguring genetic services

Answer 4

To provide
-High quality
-equitable
-cost effective services (value for money). So services are not duplicated.
-improve patient outcomes
From sample acquisition, to data analysis, validation and clinical interpretation.

Question 5

What were the recommendations of recommendations of the Human Genomics Strategy Group (HGSG) 2012 report

Answer 5

consolidate existing resources to deliver ‘state of the art’ genomic laboratory services for the future

Question 6

What does the new reconfigured service consist of (labs etc)

Answer 6

1. Genomics England Sequencing Centre (centralised sequencing of 100k WGS). Although many labs have their own equipment so could do themselves.
2. Genomics Central Laboratory Hubs (GCLH). Will specialise in certain areas in order to avoid duplication of work.
3. Genomics Local Laboratory Hubs.

Question 7

How will this alter role of clinical scientists

Answer 7

• May mean job losses or movement of scientists
• more integration with pathology labs
• roles will involve more clinical interpretation rather than testing.

Question 8

Reasons for integration mol and cyto

Answer 8

-Techniques that are relevant to both disciplines (microarrays, NGS).

Question 9

What is MSC

Answer 9

Modernising scientific careers

Question 10

What is STP scheme

Answer 10

Scientist training programme. Scheme to train clinical scientists. Cross discipline (mol and cyto). Increased flexbility, better communication etc.

Question 11

What is HSST scheme

Answer 11

Higher Specialist Scientist Training. Designed to train consultant clinical scientist across cyto and molecular genetics. New joint FRCPath exam.

Question 12

General examples of service changes

Answer 12

• Bioinformatics training. STP posts. More techniques require this expertise (NGS and bioinformatics).
• Integrated reports systems (LIMS, Laboratory information management system). Reports from various pathology labs all in one system.
• Further communication between scientists and clinicians (MDTs), more combined reporting.
• More NGS testing means less MLPA. One test fits all approach.

Question 13

Postnatal examples of service changes

Answer 13

• Molecular tests replacing traditional cyto techniques (microarray for karyotyping), except for certain malignancies, infertility referrals or sex chromosome abnormalities.
• Switch to SNP arrays, can then detect UPD and CNVs

Question 14

Prenatal examples of service changes

Answer 14

• Arrays for abnormal scans
• NIPT for aneuploidy
• NIPD for single gene disorders and sexing.

Question 15

Oncological examples of service changes

Answer 15

• Reliance on genetic testing for targeted therapies.
• Increase use of MRD (minimal residual disease) testing and monitoring
• Pharmacogenetics: labs working with pharma to develop new drugs.
• Stratified therapies: genetic tests indicate whether a patient is likely to respond to certain treatments. e.g. BRCA1/2 and PARP inhibitors

Question 16

Current challenges facing genetics service delivery

Answer 16

• Significant service changes, lots of development work required to meet NHSE redesignation and test directory.
• Limited resources and high case loads, e.g. 100k genomes project has put a strain on labs.
• Uncertainty on funding models, difficult to project viability of services, which in turn affects workforce planning.
• Availability of suitably qualified scientific and technical staff remains a challenge to service delivery
• Data storage and IT infrastructure requirements are still a challenge.
• COVID-19 pandemic 2020 will have a lasting impact on how services operate, the scale of which is not fully known. e.g. working from home, staggered working patterns, virtual MDM need embedding into services.

Question 17

Future challenges to services

Answer 17

• As technologies continue to develop and scales of testing increase, more likely to have centralised wet lab work and data being sent to other sites for analysis and reporting.
• Increased push to consolidated services, to best utilise equipment and resources. Unifying LIMS, data sharing and centralising wet work all present challenges.
• TAT requirements may change the way labs operate, moving towards 7 day working week.
• Standardisation of testing and reporting across centres once test directory is live.
• Genetics will continue to incorporate more molecular methods.
• testing methods will be stipulated by NHSE, will this stifle research and innovation

Question 18

Workforce changes in future of genetics service

Answer 18

• Requirement for skilled scientific staff to interpret genomic data will increase, as we provide more extensive sequencing for patients. Needs significant investment or significant efficiency gains to be made in analysis and reporting processes
• Automation of wet lab processes, may mean technical staff could be upskilled to assist in other areas of lab work flows where demand is likely to increase (variant analysis and report writing)
• Requirements for bioinformaticians will likely increase.