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Advancing Genomics in Clinical Practice


Developments in sequencing and genomics mean that the human genome can now be explored at an unprecedented level. Many experts agree that we are entering a genomics revolution. Amongst the hype, technological developments and ground-breaking research, one question remains:

How can all of this be translated to advance genomics in clinical practice?

Our new report – Advancing Genomics in Clinical Practice – aims to address that question and many more. The report explores the clinical aspects of genomics and how the genomics revolution can bring tangible benefits to patients.

What’s included in the report?

  • Contributions from experts in the genomics field
  • The history of genomic medicine leading to the genomics revolution
  • Detail on current genomic services and future projects
  • How genomics can be advanced in cancer and other diseases
  • Reducing inequality and delivering genomics to everyone
  • The patient perspective of genomic medicine
  • Expert views and practical advice

Report contributors include:

  • Dame Sue Hill, Chief Scientific Officer for England and Senior Responsible Officer for Genomics in the NHS, NHS England
  • Matt Brown, Chief Scientific Officer, Genomics England
  • Catalina Lopez-Correa, Chief Scientific Officer, Genome Canada
  • Bettina Lundgren, Chief Executive Officer, Danish National Genome Center
  • Tiffany Boughtwood, Manging Director, Australian Genomics
  • Clare Turnbull, Professor of Translational Cancer Genomics, Institute of Cancer Research
  • Mike Hubank, Scientific Director, NHS North Thames NHS Genomic Laboratory Hub
  • Kimberly Gilmour, Director of Laboratory Medicine, Great Ormond Street Hospital
  • Lauren Leiman, Executive Director, BLOODPAC
  • Jamie Ellingford, Lead Genomic Data Scientist – Rare Disease, Genomics England
  • Leo Mansell, Locum Junior Doctor, Manchester University Foundation Trust
  • Gerome Breen, Professor of Psychiatric Genetics, Institute of Psychiatry, Psychology and Neuroscience, King’s College London
  • Alona Sosinsky, Scientific Director for Cancer,
  • Karoline Kuchenbaecker, Professor of Genetic Epidemiology, University College London
  • Lindsay Thompson, Chief Executive Officer and Service Development and Delivery Manager, B’Me Against Cancer (BMAC)
  • Felicity Boardman, Professor of Social Science in Genomics, University of Warwick
  • Jesse Berry, Berle and Lucy Adams Chair in Cancer Research Vice Chair, Academic Affairs, Department of Surgery, Children’s Hospital Los Angeles


Chapter 1: A History of Genomics

An exploration of the history of genomics including the major developments in the field, what they meant for genomic medicine and how they can be used going forward.

Chapter 2: Current Genomic Services and Projects

An overview of current genomic services and ongoing projects using the NHS in the UK as an example, as well as looking at other countries around the world.

Chapter 3: Advancing Genomics in Cancer

A discussion about how genomics has been integrated into the clinical pathway within cancer and how this can be advanced in the future.

Chapter 4: Advancing Genomics Clinically in Disease

An exploration of diseases other than cancer in which genomics has a clinical impact, including rare and infectious diseases, cardiology and mental health.

Chapter 5: Advancing Genomics for Everyone

A look at some of the inequalities faced in clinical genomics, what is being done to tackle them and how genomics can be advanced to benefit as many people as possible in the future.

Chapter 6: The Patient Perspective of Genomics

A look at genomics from the other side – the patient and public perceptions of clinical genomics are explored to help those working in the field develop a better understanding.

Chapter 7: Advancing Genomics in Clinical Practice – The Next Steps

Identifying some of the next steps in advancing clinical genomics. What are the main challenges? How can research be translated better? How can we ensure that the benefits are delivered to the patients?

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