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. A genome is an organism’s complete set of DNA, including all of its genes. Genetic testing can be used to examine particular individual genes within the genome, and whether a person is carrying a specific inherited altered gene (germline mutation) that causes a particular medical condition. Mutations may also be acquired in abnormal cells, e.g. cancer, and by testing for these ‘somatic’ mutations within the cancer cells, it can be determined whether the patient may respond to a particular therapy.

Such ‘personalised medicine’ (also called precision medicine) is a paradigm shift away from a ‘one size fits all’ approach to the treatment and care of patients with a particular condition, to a strategy which incorporates new approaches to better manage patients’ health and targets therapies, in order to achieve the best outcomes in the management of a patient’s disease and/or predisposition to the disease.

The National Genomic Healthcare Strategy – Genome UK: the future of healthcare has been developed by the Department of Health and Social Care and 'sets out how the genomics community will work together to harness the latest advances in genetic and genomic science, research, and technology for the benefit of patients.'

The College's view on genomic medicine

  • Genomic medicine provides an incredible opportunity for faster, accurate diagnosis and tailored treatment for people with cancer, and with inherited diseases.
  • It is essential that there is equity of access to tests and the associated treatment(s).
  • Evidence-based medicine is the cornerstone of these developments, and it is vital to integrate research and data collection into monitoring clinical outcomes for patients.
  • Developments in genomics will require significant investment – i.e., more staff equipped with knowledge, and laboratories with necessary equipment.
  • Pathologists are at the heart of these developments and hence must be involved throughout the programme, because of their vast experience in tissue handling, processing and reporting.
  • There is no planned resource provision for the significantly increased workload that the Genomic Medicine Service will create for pathology, which will grow over time. Without this being addressed there will be issues in providing the quality and level of service desired.


The 100,000 Genomes Project was established in 2014 to sequence 100,000 genomes from around 85,000 NHS patients affected by rare diseases or cancer. The Project ultimately led to the creation of a new Genomic Medicine Service for the NHS in England.

Genomic testing in NHSE is being provided through a national testing network, which aims to consolidate and enhance the existing laboratory provision. The testing service is delivered through a network of 7 Genomic Laboratory Hubs (GLHs), each responsible for coordinating services for a particular part of the country. Together they form the NHS Genomic Medicine Service.

The NHS Genomics Medicine Service was set up to harness the power of genomic technology and science to improve the health of the population. It will be the first national healthcare system to offer whole genome sequencing (WGS) as part of routine care. Its aims are to:

  • Sequence 500,000 whole genomes by 2023/24 and to help transform healthcare for maximum patient benefit, including for all children with cancer or children who are seriously ill with a likely genetic disorder.
  • Extend access to molecular diagnostics and offer genomic testing routinely to all people with cancer, either by using WGS or large panel next generation sequencing (NGS).
  • Provide early detection and treatment of high-risk conditions including expanding genomic testing for Familial Hypocholesterolaemia.
  • Offer consistency of testing to patients guided by the National Test Directory (reviewed annually).
  • Link and correlate genomic data to help provide new treatments, diagnostic approaches and help patients make informed decisions about their care.

This approach is unique as it is embedded within the NHS and will bring equity of access to NHS patients, integrating research into patient diagnosis and treatment.

Learning for the future from 100,000 Genomes and the Genomics Laboratory Hubs

There needs to be significant investment in NHS infrastructure. This will include:

  • Modification of pathways to ensure safe and suitable storage and transfer of tissue samples. Initially, the methods used to process tumour samples were unsuitable to extract DNA of sufficient quality for WGS.  This will still be an issue in NHS laboratories and pilot projects have been run to validate different sample handling techniques. This has led to the introduction of the fresh frozen (FF) method of collecting, transporting and storing cancer tissue samples, across large geographical patches.
  • IT that allows the rapid transfer and safe storage of data.
  • A user-friendly request system for clinicians and scientists, for genomic testing with easy, safe and smooth return of information, with integration across a range of IT systems.
  • The organisation of “genomic tumour boards’, in order to clarify results of clinical significance.
  • Enough educated staff to deliver at scale.
  • Education and training of NHS staff at levels of the genomics testing pathway (e.g. patient consenting; sample transport and processing; data interpretation; patient counselling etc).

Workforce challenges

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 workforces in particular, as well as other disciplines where sample assessment and preparation for testing as well as the incorporation of genomic information into pathology reports – while already routine – will become more widespread and more detailed.

In addition, 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.

Also on the agenda