• A study has been conducted by a team from The Institute of Cancer Research, London, and The Royal Marsden NHS Foundation Trust, in collaboration with the London Genetics Centre at the 90 Sloane Street Clinic.

• Veritas supported the study by providing whole genome sequencing and clinical interpretation as well as participating in the on-going management and evolution of the services.

• 26% of the people who participated in the study had genetic alterations of clinical relevance, which implies an increased risk of suffering from diseases such as cancer, heart disease, hereditary thrombophilia or hemochromatosis. This information is key to establishing preventive medical management strategies.

The utilization of whole genome sequencing and interpretation can improve the prevention and early detection of diseases such as cancer or heart disease, according to a study presented in June at the annual congress of the European Society of Human Genetics (ESHG 2022), then at ASCO 2022, the annual meeting organized by the American Society of Clinical Oncology, and soon at the annual meeting of the American Society of Human Genetics, ASHG 2022.

The study was led by Prof. Ros Eeles, a world-renowned expert in cancer genetics and a member of The Institute of Cancer Research (ICR) in London and The Royal Marsden NHS Foundation Trust, and Dr. Michael Sandberg, physician and director of the prestigious London Genetics Centre at the 90 Sloane Street Clinic. Sequencing of the samples and their clinical interpretation was performed by Veritas.

Known as the 90S study, it is the first to demonstrate the clinical utility of whole genome sequencing (WGS) in the family practice environment, with the aim of improving current strategies for prevention or early detection of common diseases such as cancer, heart disease, hereditary thrombophilia or hemochromatosis.

Whole genome sequencing in family practice.

Whole genome sequencing (WGS) is now possible due to improvements in next generation sequencing technology. This gives the opportunity to incorporate genetic data into family practice health screening.

For this purpose, a specific protocol was developed in which the patient’s sample was collected at the family doctor’s office, followed by whole genome sequencing and the presence of 600 key genetic diseases was determined. The study involved 104 individuals recruited at The London Genetics Centre between 2020 and 2022.

The study points out the importance of family practice physicians being supported by a team of geneticists to allow better interpretation of the results and a more effective medical approach to the patient.

Results

The results of the of the 104-participant study showed that 26%had actionable genetic variants associated with an increased risk of diseases such as cancer, heart disease, increased risk of thrombophilia or hemochromatosis; 62% were asymptomatic carriers of a recessive disease that could be transmitted to their descendants if their partner was also a carrier of the same disease; and 40% had genetic variants associated with drug response.

In conclusion, nearly one third of the patients had a significant change in health management for themselves and more than 80% for their families. Whole genome sequencing as part of health screening in family practice is feasible and is likely to have important beneficial health management implications.

Actionable diseases

The aim of the 90S study is to detect actionable genetic alterations, i.e., those with specific medical management that can improve people’s health options. According to the researchers, the detection of these variants makes it possible to change the medical management of patients and their families, either by adapting follow-up, screening according to risk or other measures to prevent the disease or detect it early, which radically improves the patient’s prognosis.

One of the most relevant data points from the 90S study is that 70% of the patients presenting a genetic variant that increases the risk of cancer would not have been studied according to UK national genetic screening guidelines.

Future of genetics in preventive healthcare

Professor Ros Eeles stated:

“The study demonstrates that it is possible to provide relevant genetic information in a primary care setting that can benefit patients by making preventive or counseling measures available to them”.

Dr Michael Sandberg also commented:

“I am very happy with the results of both the study and the amazing work achieved by the 90S Study team and through our partnership with Veritas Genetics. The results effectively demonstrate that primary care is the future setting for whole-genome screening which will be carried out by specially trained practice nurses supported by GPs and consultant geneticists.”