Screening patients’ genomes for working physicians to assess disease risk ‘possible’

A new study finds that it may be “feasible” for GPs to examine patients’ genomes – the DNA profile – in order to assess the risks of diseases such as cancer and heart disease.

Researchers say the tests can detect genetic changes that may have important effects on health, allowing preventive measures or counseling to become available.

They say the findings could be the “start of a revolution” in healthcare as patients are routinely screened by their doctors.

The 90s study is the first to demonstrate that whole genome sequencing (WGS) is possible in primary care settings such as GP surgeries, and suggests that it could have a role in detecting or preventing diseases such as cancer or heart disease.



We feel this work can set us at the beginning of a revolution in healthcare, by helping to pave the way for a future in which genetic testing is routinely made available to patients in primary care.

Professor Ross Ellis, ICR

A quarter of the people in the study had potentially actionable genetic modifications — changes for which there is a treatment or treatment — that increased the risk of diseases such as cancer, heart disease and blood clotting disease.

The researchers also found that six out of ten people carry a genetic mutation in a recessive gene.

This means that they will not have the condition themselves, but may risk passing it on to any children if their partner has the same recessive gene.

Study leader Rose Ellis, professor of cancer genetics at the Institute of Cancer Research, London (ICR), is a consultant clinical oncologist and genetics at the Royal Marsden NHS Foundation Trust.

She said: “Our study is the first to assess whether whole-genome sequencing can be delivered by general practitioners and demonstrates that it is feasible, provides important genetic information, and is likely to benefit patients by providing preventive measures or counseling.

“We feel this work could set us at the beginning of a revolution in healthcare, by helping to pave the way for a future in which genetic screening is routinely made available to patients in primary care.

“Our findings suggest that incorporating whole genome sequencing into primary care could change the way most patients and their families are managed by GPs — either by discovering genetic variants that will affect a patient’s health, or by highlighting the risks of Transmission of a genetic change which is important for future family planning.”

The results were presented at the annual meeting of the American Society of Clinical Oncology in Chicago.

The study involved 102 healthy people from the London Genetics Center at 90 Sloane Street between 2020 and 2022, whose entire genetic code was read from samples taken in the clinic.

The researchers looked for 566 separate genetic changes associated with the disease, including changes in 84 genes related to cancer and 77 related to heart disease, and other genetic changes linked to how patients respond to or break down certain medications.

About 26 of the 102 participants had actionable genetic variants, 61 had a recessive gene that could be passed on to children, and 38 had epigenetic changes associated with specific drug responses.

According to the scientists, learning about these changes could change the way doctors treat patients and their families — either by offering monitoring, screening, or other measures to prevent disease.

Dr Michael Sandberg, GP at 90 Sloane Street and co-principal investigator on the 90s study said: “This study pushes the boundaries of genetic screening by showing that it is feasible as part of GP care and has the potential to dramatically improve people’s health.

Hopefully, we can also stop many genetic conditions from being passed on to future children and grandchildren, if they have a “monogenic” basis, such as the genetic changes of BRCA.

“So whole-genome screening can have a huge impact and huge benefits on people – and it’s important to note that we only test for genetic changes where we can help, and this is called actionable.”

The study looks for genetic modifications that, if detected, would affect a person’s choices, such as lifestyle improvement, specific screening and sometimes targeted therapies.

Disease risks for which no action can be taken will not be reported.

The team aims to make genetic screening practical and psychologically acceptable to people by providing specially trained personnel to assist with the medical and psychosocial consequences of any genetic findings.

The researchers acknowledge that the necessary resources may not be readily available in the NHS, but are looking for ways to streamline processes to make them suitable for large-scale NHS screening.

A team at ICR and The Royal Marsden NHS Foundation Trust worked in partnership with cardiology consultants at Royal Brompton and Harefield Hospitals and with the London Genetics Center at 90 Sloane Street, a private GP clinic, to carry out the study.

She has received funding from the National Institute for Human Rights’ Biomedical Research Center in Royal Marsden, the ICR, the Oppenheimer Foundation, and the David de Boinville Fund.