The role of clinical genetics in medicine is constantly developing and genomic medicine is emerging as an important medical discipline. In October 2018 the NHS Genomic Medicine Service was introduced with the aim of allowing this new technology to benefit patients during their routine care. NHS England has established 13 NHS Genomic Medicine Centres (GMC), each covering a different part of the country.

Since the start of the 100,000 Genomes Project in 2014, over 80,000 genomes have been sequenced, with the goal being that this will reach 100,000 by the end of this year. The Secretary of State for Health and Social Care also recently announced plans to expand on this project and map five million genomes over the next five years.

One of the important aims of the project is to bring personalised medicine to the NHS so that patients, where possible, will receive individualised treatment based on their own characteristics. It is hoped that the completion of the project will lead to new approaches to treatment and diagnosis, not only for patients with rare genetic diseases but also patients with cancer, and will help to improve the health of the population.

It is hoped that genomic medicine will allow diagnoses to be made more quickly and patients will be matched with the most effective treatment for them. This will hopefully increase the number of patients who survive cancer.

Advances in medicine, including genomic medicine, clearly create the opportunity for improved patient care, but associated with these advances are medico-legal implications that doctors and patients must consider carefully.

Traditional genetic testing, for example, for Huntington's disease or breast cancer, identifies whether or not a specific gene has been altered, and allows doctors to inform patients of their risk of developing a genetic condition.

Genomic testing involves analysing a patient's whole genome and therefore provides more extensive information. Patients must be made aware of the purposes of these tests, and what they are being carried out for, but also made aware of the potential for these tests to find other, possibly unexpected, results.

In order for patients to provide their consent, they need to be given enough information to make an informed decision. The significance of results needs to be explained and the fact that it may be difficult to predict the significance of some findings and results.

Genetic and genomic information is different to other forms of information used in healthcare in that a patient's test result may also have implications for other members of the patient's family, including their children. Where a condition is diagnosed which may affect other members of the family, a careful discussion needs to take place with the patient to ensure that consideration is given to their confidentiality. Doctors need to ensure they are aware of the GMC's guidance relating to disclosing genetic information.

Click here to read Dr Leask's previous article on the legal aspects of genetic testing.


This article was correct at publication on 11/12/2018. It is intended as general guidance for members only. If you are a member and need specific advice relating to your own circumstances, please contact one of our advisers.

Dr Kathryn Leask

Medico-legal adviser

BSc (Hons) MBChB (Hons) LLB MA MRCPCH FFFLM DMedEth

Kathryn has been a medico-legal adviser with the MDU since 2007 and is a team leader, trainer and mentor in the medical advisory department. Before joining the MDU, she worked in paediatrics gaining her MRCPCH in 2002 and did her specialty training in clinical genetics. She has an MA in Health Care Ethics and Law, a Bachelor of Law and a Professional Doctorate in Medical Ethics. She is also a fellow of the Faculty of Forensic and Legal Medicine and has previously been an examiner and Deputy Chief Examiner for the faculty exam. Kathryn is currently a member of the faculty's Training and Education Subcommittee.

See more by Dr Kathryn Leask