90S Study
Research type
Research Study
Full title
The 90S STUDY: Investigation of the role of Whole Genome Sequencing in General Practice Screening
IRAS ID
251200
Contact name
Rosalind Eeles
Contact email
Sponsor organisation
The Instistute of Cancer Research
Duration of Study in the UK
3 years, 0 months, 1 days
Research summary
Summary of Research
Over the last two decades the potential use of an individual’s genome to predict, prevent, diagnose and treat a range of conditions has grown exponentially. As such, precision medicine, defined as - identifying approaches to patient care based on genetic, environmental lifestyle factors - is already integrated in daily practice in the UK, across a variety of healthcare settings. These include the diagnosis and management of cancer, rare inherited disorders, screening with the newborn blood spot programme, pharmacogenomics, prenatal and family planning services.This remit was also highlighted in the UK with the Chief Medical Officer’s Annual Report 2016, Genomics. It recommended that ‘the National Screening Committee conducts a systematic evaluation of opportunities offered by genomics for present and potential screening practices’, at national, population-based, or individual levels. A specific area of interest is how to better integrate genomics research into primary and community care.
This study will contribute to the knowledge base of a personalised and preventative approach to health in primary care in the UK and investigate if WGS data can be used to inform healthy individuals about risk, lifestyle adjustments and optimise care pathways.
This study aims to evaluate the feasibility and acceptability of whole genome sequencing (WGS) as an additional screening tool to family history, lifestyle and environmental factors in a private general practice in London. A pilot phase will assess 100 asymptomatic individuals with WGS and a second phase will take the total study population to 1000 asymptomatic individuals. The latter will involve NHS practices having learned from the pilot.
Summary of Results
Some diseases/medical conditions are inherited – changes in the genome passed from one generation to the next. Some changes in the genome may also influence the way medications are used by your body.
This study aimed to look at how we can combine genetic information with traditional clinical risk factors, such as family history and lifestyle choices to help understand an individual’s future risk of disease. Understanding more about the role of genes in the development and management of disease will help us to understand how to support people to maintain good health and guide future clinical management.
This project used a test that looked at all the letters in a person’s genome (called whole genome sequencing) to identify any changes (variants) in their genetic material which may indicate they are at a higher risk of future disease.Whole genome sequencing presents an opportunity to identify healthy individuals who are at increased risk of specific diseases (like heart disease or cancer) in the future. It also provides an opportunity to understand how they would respond to certain medications.
This study recruited healthy volunteers from a GP practice to undergo Whole Genome Sequencing.
We set up a model pathway to assess the use of whole genome sequencing combined with a general medical assessment in primary care. This was to see whether using this approach could be a useful future model for the health service to provide tailored preventative care.We recruited 20 individuals from a private general practice for a medical assessment and genetic testing. The genetic test looked at 566 genes known to increase a person’s risk of disease or to affect their response to certain medications. We were also able to calculate a person’s future risk of four common cancers (breast, ovarian, prostate and colorectal cancers).
Subsequently this test was offered as standard of care by the practice and we assessed data from another 84 individuals. In total, data from 104 individuals were reported.
We found that 23 individuals (22%) had a variant in a gene that predicted a higher future risk of disease such as cancer, heart disease, high cholesterol or risk of having a blood clot. Just under a half had an increased cancer risk. Those with increased prostate cancer risk were offered assessment at The Royal Marsden Prostate Risk Clinic.
A further 60 (58%) individuals were found to carry a ‘recessive’ genetic variant which means they have a specific change in a gene that doesn’t cause any problems unless you have two copies of it, one from each parent. Whilst this has no implications for their health, it means this condition could be passed onto children. An example of a recessive condition is Cystic Fibrosis.
A further 41% of participants had a variant in a gene that means certain medications would not work for them, if needed in the future.
Our findings show that using genetic screening, such as whole genome sequencing, as a way of predicting future disease in primary care does identify people who carry specific genetic variants which have future health implications. This provides evidence that genetic testing could be used as part of a future health screen in healthy individuals.
Further research is needed to follow-up people longer-term to look at the impact of genetic testing on long-term health outcomes and to look at how people feel about undergoing genetic testing in this context. We also need to understand the financial impact of this potential new approach to healthcare.
REC name
London - Chelsea Research Ethics Committee
REC reference
19/LO/0949
Date of REC Opinion
28 Nov 2019
REC opinion
Further Information Favourable Opinion