Genomics in medicine

What is genomic medicine? Genomics is the study of the body’s genes, their functions and their influence on the growth, development and working of the body – using a variety of techniques to look at the body’s DNA. Genetic testing can be used to find out whether a person is carrying a specific altered gene (genetic mutation) that causes a particular medical condition. Personalised medicine is a move away from a ‘one size fits all’ approach to the treatment and care of patients with a particular condition, to one which uses new approaches to better manage patients’ health and targets therapies to achieve the best outcomes in the management of a patient’s disease or predisposition to disease.

The National Genomic Healthcare Strategy (NGHS) is currently being developed by the Department of Health and Social Care ‘to offer a predictive, preventative and personalised health and care service for people with rare diseases’. The Strategy will aim to ensure rare disease patients receive a faster and more accurate diagnosis, as well as providing access to personalised treatment and care.

The College's view on genomic tests

The Royal College of Pathologists believes genomics has huge potential to improve patient care, but we need a proper regulatory regime to ensure this potential is realised as well as the risks are mitigated.

  • We are excited by the opportunities for genomics to advance medicine and improve health. Genomics has already transformed the lives of many and promises much more in the future.
  • We need to be pragmatic about how we approach the scaling up of the 100,000 genome project, addressing the challenges and setting realistic expectations.
  • Genomic tests should only be approved for use in healthcare if there is evidence of benefit to the individuals being tested. When used for screening this means that before implementation they must meet the same requirements as other types of screening test.
  • Genomic tests can lead to confusing and/or worrisome results. For example, a person’s test results may reveal unexpected information. This might be about a disease that is completely unrelated to the reason for the test, or about the genetic relationships between people. Commercial providers do not, at present, support patients who are left confused and anxious. NHS providers are left dealing with unexpected or difficult outcomes, placing additional strain on the NHS whilst the commercial providers take their profits.
  • Selling whole genome sequencing to those that can afford it will create a two-tier health service and be of limited research value.
  • We advise creation of a regulatory body similar to the Human Fertilisation and Embryology Authority (HFEA) to oversee genomic testing in the UK. This would protect the public and the NHS, and support the UKs continuing global leadership in collaborative genomic research and delivery of a high-quality genomics clinical service.

The workforce implications of genomic testing

We welcome the intention to build a genomics workforce that includes clinical scientists and medical doctors. This should include their role in education, through engagement and training programmes, for the wider community of healthcare professionals and the public. However, the workforce implications of genomics testing go beyond genetics services. Similar considerations must be made for the histopathology and microbiology workforce in particular, as well as other disciplines where incorporation of genomic information into pathology reports – while already routine – will become more widespread and more detailed. Our training processes will need to be adapted to the advent of digital images across all disciplines, and we will work closely with stakeholders to ensure that trainees and our existing workforce have access to the most up-to-date and accessible resources for training.

In January 2019, the College's President, Professor Jo Martin co-signed a letter written in response to the article Gene test for sale on NHSpublished on 26 January, which can be read below. 

The Times Letter: Concerns over sale of gene tests on NHS

Sir, You report (‘Gene test for sale on NHS’, Jan 26) that the NHS intends to sell whole genome sequencing to healthy adults who will receive a ‘personalised’ test report. The UK leads the world in collaborative genomic research and in the provision of a high-quality genomics clinical service. Genomics has already transformed the lives of many and promises much more in the future.

Selling whole genome sequencing to healthy people breaches a core principle of the NHS. It will create two-tier access to services, where people who can pay are able to access services that are denied to those who cannot. Furthermore, without additional resourcing the extra demand that it will create on laboratory and clinical capacity may compromise the provision of diagnostic genome sequencing and clinical care for NHS patients for whom there is already proven benefit, such as those with rare diseases and cancer.

Helen Firth, Chairwoman, Joint Committee on Genomics in Medicine; Andrew Goddard, President, Royal College of Physicians; Jo Martin, President, Royal College of Pathologists; Bob Steele, Chairman, UK National Screening Committee; Dian Donnai, Emerita Professor of Medical Genetics, University of Manchester; William Newman, Professor of Translational Genomic Medicine, University of Manchester; Paul Pharoah, Professor of Cancer Epidemiology, University of Cambridge; Jane Hurst, President, Clinical Genetics Society; Anna Middleton, Chairwoman, Association of Genetic Nurses and Counsellors; Andrew Wilkie, Nuffield Professor of Pathology, University of Oxford; Eamonn Sheridan, Professor of Clinical Genetics, University of Leeds.

In April 2019 the College submitted a joint response, with the Royal College of Physicians (RCP), to the House of Commons Science and Technology committee inquiry on commercial genomics.

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