Exploring patients' views about whole genome testing

Research at the facility is investigating what participants think about genomic testing and their experience of taking part in the NHS’s world-leading project to sequence 100,000 genomes.

The 100,000 Genome Project aims to support genomics research across the UK and create a new genomic medicine service within the NHS. It is a national project to identify the underlying genetic causes of rare diseases and cancer.

Our NIHR Wellcome Trust Clinical Research Facility has supported a study led by Professor Anneke Lucassen investigating what those involved in the project think about their experience taking part and their views on how the new genomic medicine service should be implemented.

Genomics vs genetics

Most people have heard of genetics, but the concept of genomics is less familiar. Genetics is the study of genes, usually individual genes and their roles in health and disease. Genomics lookes at the whole genome – a person’s complete set of genetic information. The 100,000 Genome Project is the first national initiative to incorporate genomics into medicine.

Since the project has the potential to radically change the healthcare system, and it is important that patients have a say in how the new genomics service will be run. Genomic tests can reveal results for diseases other than the one the patient was tested for, so the service will need to handle this extra information appropriately. They could also have implications for family members, who may be at risk and could be offered the test, or influence a patient’s decision to start their own family.

Listening to patients

The three year study, led by Dr Sandi Dheensa, involves sending out questionnaires to people involved in the project, including both patients and their close relatives. Interviews will then be conducted with a small subset to delve deeper into the reasons for their answers.

Anneke sits on the ethics committee of Genomics England, the company set up by the UK Department of Health to run the 100,000 Genome Project. Her group’s research influences decisions on how to deliver the new NHS genomic medicine service to meet the needs of patients.

“It’s really helpful to hear what patients think about this as they go through the process” says Anneke, “previous research focussed on what people thought they would do were genome analysis available. What people do in practice can be quite different to considering a hypothetical situation.”

Her research will also look at the referral pathways for patients. “Genomics means that specialists may discover risks of disease they are quite unfamiliar with; cardiologists discovering breast cancer risk, for example.” This will have implications for the health service, and her research results will inform future guidelines for health professionals in this rapidly advancing field of medicine.