Genomics Clinical Reference Group

Genomics Clinical Reference Group
NHS England February 2020

• NHS England has convened a Genomics Clinical Reference Group (CRG) to support the implementation of the NHS Genomic Medicine Service. The CRG will be chaired by Professor Bill Newman Professor of Translational Genomic Medicine in The Manchester Centre for Genomic Medicine at the University of Manchester and Honorary Consultant at Manchester University NHS Foundation Trust.

Everything you need to know about the NHS genomic medicine service

Everything you need to know about the NHS genomic medicine service
Pharmaceutical Journal 2 January 2020

• An overview of the progress on NHS England genomic medicine service.

Genome Sequencing and the NHS: The views of rare disease patients and carers

Genome Sequencing and the NHS: The views of rare disease patients and carers
Genetic Alliance 18 July 2019

• Report of a survey to capture the views of patients with a rare or undiagnosed condition and their carers to help inform the implementation of the 100,000 Genomes Project.

Genomics: the power, potential and pitfalls of the new technologies and how they are transforming healthcare

Genomics: the power, potential and pitfalls of the new technologies and how they are transforming healthcare
Clin Med 1 July 2019 vol. 19 no. 4269-272

• Through five patient-focused scenarios with accompanying interviews, this article showcases new genomic technologies while highlighting the inherent challenges associated with complex genomic data.
• Case study 5 describes the use of genomics to indicate an inherited predisposition to colorectal cancer (personalised medicine).

The Topol Review - genomics, digital medicine, AI and robotics

The Topol Review

• An independent report on behalf of the Secretary of State for Health and Social Care, 11 February 2019

This report aims to examine

• how technological and other developments (including in genomics, artificial intelligence, digital medicine and robotics) are likely to change the roles and functions of clinical staff in all professions over the next two decades to ensure safer, more productive, more effective and more personal care for patients;

• what the implications of these changes are for the skills required by the professionals filling these roles, identifying professions or sub-specialisms where these may be particularly significant;

• the consequences for the selection, curricula, education, training, development and lifelong learning of current and future National Health Service staff.

Digital healthcare technologies, defined here as genomics, digital medicine, artificial intelligence (AI) and robotics.

The Review proposes three principles to support the deployment of digital healthcare technologies throughout the NHS:

1. Patients need to be included as partners and informed about health technologies, with a particular focus on vulnerable/marginalised groups to ensure equitable access.

2. The healthcare workforce needs expertise and guidance to evaluate new technologies, using processes grounded in real-world evidence.

3. The gift of time: wherever possible the adoption of new technologies should enable staff to gain more time to care, promoting deeper interaction with patients.

Digital technologies will have an impact on patients, carers and the wider community, health workforce, and health service leadership.

Recommendations

National Genomic Test Directories

National Genomic Test Directories
NHS England 3 August 2018

• From October 2018 the National Genomic Test Directory will specify which genomic tests are commissioned by the NHS in England, the technology by which they are available, and the patients who will be eligible to access to a test. 
• Two directories are available - Rare and Inherited Disorders and Cancer.

TAILORx trail testing Oncotype DX breast recurrence score

TAILORx: Many Women With Early Breast Cancer Can Avoid Chemotherapy
ASCO conference 2018, Press briefing 4 June 2018

• Results of the TAILORx breast cancer trial which correlated Oncotype DX Breast Recurrence Score and impact of chemotherapy on invasive disease–free survival (iDFS) when added to adjuvant ET found that "the vast majority of women who have this test performed on their tumor can be told that they don’t need chemotherapy, and that can be said with tremendous confidence and reassurance”. 
• The study results are expected to be immediately practice-changing, Harold Burstein, MD, PhD, FASCO, of Dana-Farber Cancer Institute, commented during the press conference. 

Full abstract presented 3 June

TAILORx: Phase III trial of chemoendocrine therapy versus endocrine therapy alone in hormone receptor-positive, HER2-negative, node-negative breast cancer and an intermediate prognosis 21-gene recurrence score.