Results from research from the 90S study released at ASCO 2022 in Chicago has shown that the germline screening of patient’s genomes for the purpose of assessing risk of common or serious conditions, such as cardiac disease, thrombophilia, or cancer, in primary care. Professor Ros Eeles, professor of oncogenetics at The Institute of Cancer Research and Clinical Oncology and Oncogenetics Consultant at The Royal Marsden NHS Foundation Trust, highlighted the health implications of incorporating these screening tests into primary care on long-term patient care.

“Our findings suggest that integrating whole-genome sequencing into primary care could change the way most patients and their families are managed by their GPs – either by detecting genetic variants that will affect a patient’s own health, or by highlighting their risk of passing on a genetic alteration which is important for future family planning.”

“Primary Care and the Dawn of Genome-Specific Individualised Medicine“

The risk of many of these conditions is modifiable through early interventions, such as lifestyle changes, early treatment, and monitoring. The prospect of empowering GPs with a fuller knowledge of their patient’s risk profiles equips them with the foresight to customise interventions and health advice to each patient, informed by their genetic predisposition, allowing preventative medicine to become a part of everyday healthcare.

The pilot study recruited 102 consenting and healthy participants between 2020 and 2022 from The London Genetics Centre, and performed a baseline assessment including routine blood tests, cardiac assessments comprising of an ECG and an echocardiogram, and an abdominopelvic ultrasound. Their past medical history and family history were also sourced from medical records. Then, germline genetic testing was performed, looking for 566 genetic markers linked to disease, including 84 markers for cancer, 77 markers for cardiac disease. Researchers also looked at autosomal recessive disease genes, and pharmacogenetic markers that may indicate how patients uniquely metabolise drugs. These results were then reviewed by a multi-disciplinary team and reported back to patients.

It was found that the majority of the patients assessed had at least one genetic marker that could significantly change their clinical management, or that of their family members. This included the presence of autosomal recessive genes that may not impact the health of the patient, but may have implications for their children depending on the genetic status of their partner. Although germline assessment limits output information to any heritable risks, and not acquired mutations throughout life, such as many that underly certain cancers, it is conceivable that in the future, markers for acquired mutations can be added to the screening panel.

The ethical question of the burden of knowledge has already been broached by the researchers, with the decision not to include screening for disease markers for which no interventions can be done. Additionally, researchers envision the inclusion of such screening panels into primary care alongside a dedicated team trained to manage both the logistical and psychological implications of the test.

Moving forwards, the team are hoping to innovate the screening panel to make it feasible for large-scale use within the NHS, in the hope of bringing preventative medicine to each individual, and fostering good health for longer through a proactive health maintenance approach.