Health

Patient genome screening for GPs to assess disease risk ‘possible’

It may be “possible”. doctors New research suggests screening patients’ genomes – a DNA plan – to assess the risk of conditions such as cancer and heart disease.

Researchers say the tests can detect genetic changes that could have a significant impact on health, allowing for preventative measures or counseling.

They say the findings could be the “beginning of a revolution” in healthcare, with patients being screened regularly by their doctors.

The 90S study is the first to show that total genome sequencing (WGS) is possible in primary health care settings such as GP OperationsAnd suggests that it may play a role in the detection or prevention of diseases such as cancer or heart disease.


We feel that this work can put us in the early stages of a healthcare revolution that will help us on the path to a future where genomic screening will be conducted regularly for primary care patients.

Professor Ross Elles, ICR

A quarter of the people involved in the study had potentially effective genetic changes – changes for which there is treatment or therapy – which increases their risk of diseases such as cancer, heart disease and blood clotting diseases.

The researchers also found that six out of 10 people have a hereditary mutation in a recessive gene.

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

Research leader Ross Ayles, Professor of Oncogenetics at the Cancer Research Institute; London (ICR), is a Consultant in Clinical Oncology and Oncogenetics at The Royal Marsden NHS Foundation Trust.

He said: “Our research is the first to assess whether it is possible for general practitioners to sequester the entire genome and show that this is possible, provides important genetic information and is likely to benefit patients with access to preventative measures or counseling.

“We feel that this work can put us at the beginning of the healthcare revolution, which will help us on the way to the future, where genomic screening will be performed regularly for primary care patients.

“Our findings suggest that integrating the entire genome sequence into the primary care system may alter the management of patients and most of their families by their physicians – either by identifying genetic variants that affect the patient’s health or highlighting the risk of transmission.” “Genetic change, which is important for future family planning.”

The findings are presented at the annual meeting of the American Society for Clinical Oncology in Chicago.

The study involved 102 healthy people from the Genetic Center in London at 90 Sloane Street from 2020 to 2022, who read the entire genetic code from samples taken in practice.

The researchers found 566 individual genetic changes associated with the disease, including changes in 84 genes associated with cancer and 77 related to heart disease, and other genetic changes associated with patients responding or breaking down to certain medications.

Of the 102 participants, 26 had potentially valid genetic variants, 61 had a recessive gene that could be passed on to children, and 38 had genetic changes associated with specific responses to medications.

According to scientists, the adoption of these changes could change the way doctors treat patients and their families – by offering monitoring, screening or other disease prevention measures.

Dr. Michael Sandberg, a physician at Sloane Street 90 and a co-researcher on the study in the 1990s, said: Health.

“We hope we can also pass on many genetic conditions to future children and grandchildren if they have a ‘monogenic’ basis, such as changes in the BRCA gene.

“Therefore, whole genome screening can have huge impacts and huge benefits for humans – and it’s important to note that we only test for genetic changes where we can help, so to speak.

Research is looking for gene changes that, if detected, will affect people’s choices, such as lifestyle improvements, specific screening and sometimes targeted treatments.

It does not report the risk of diseases for which no action can be taken.

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

Researchers recognize that the resources needed may not be available on the NHS, but they are looking for ways to streamline processes to make them suitable for large-scale NHS screening.

A team from the ICR and the Royal Marsden NHS Foundation Trust worked with cardiology consultants at The Royal Brompton and Harefield Hospitals and the London Genetics Center at Sloane Street 90 for private GP practice research.

He has received funding from the NIHR Biomedical Research Center in Royal Marsden and the ICR, the Oppenheimer Foundation and the David de Boinville Foundation.

Patient genome screening for GPs to assess disease risk ‘possible’

Source link Patient genome screening for GPs to assess disease risk ‘possible’

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