Could genetic testing become a part of routine healthcare?

Written by Caitlin Killen

A new study aims to assess the feasibility of incorporating genetic testing into the primary healthcare setting.

Led by Ros Eeles (Institute of Cancer Research, London, UK) and Michael Sandberg (90 Sloane Street, London, UK), a pioneering study aims to evaluate the practicality and potential benefits of utilizing genetic testing to assess an individuals’ risk of developing a given disease.

With the current popularity of direct-to-consumer genetic tests, such as 23andMe and AncestryDNA, public interest in genetics is at an all-time high. Such tests are often inaccurate and make unsubstantiated claims, highlighting the importance of integrating a properly controlled and verified genetic test into primary healthcare.

The scheme, known as the 90S study, launched on December 6th, 2019, and aims to assess the suitability of whole-genome sequencing in healthy patients, with the hope of aiding the early diagnosis of ailments such as cancer and heart disease. The study aims to sequence the genomes of approximately 1000 GP patients, who will be recruited from the private general practitioner (GP) surgery, 90 Sloane Street.

“Our new initiative takes cutting-edge science on the genetics of disease into a primary care setting, by sequencing patients’ entire genomes from samples taken at a GP surgery and testing for the presence of 600 key genetic alterations. What we hope is that genetic screening is practical as a way of picking up genes associated with cancer and heart disease, is psychologically acceptable to patients, and can alter the way they are managed by their GP,” explained Eeles.

“The project will give us crucial information about whether genetic screening in primary care could be feasible, and how we should go about seeking to implement it within the NHS,” Eeles added.

The first 20 patients to join the study will receive a psychological evaluation, to assess the impact of genetic screening and its acceptability to patients. All participants will receive echocardiograms to ensure a full understanding of the patient’s health, but also to put those who have demonstrated genetic risk of heart disease at ease that their current health is good.

The study will be comprised of two groups, half of which will have a family history of cancer or heart disease and half will not. It is hoped that other GP practices will be incorporated into the study, widening the pool of study participants.

The primary aim of the study is to identify potential methods for the simplification and improvement of existing processes in order to incorporate large-scale genetic screening into the NHS.

“Working in partnership with experts at The Institute of Cancer Research and The Royal Marsden (London, UK) means we can integrate whole-genome sequencing into screening in primary care with the genetic support that is essential,” commented Sandberg.