Genetic cancer risk assessment in general practice: systematic review of tools available, clinician attitudes, and patient outcomes

The systematic review by Laforest et al is a timely addition to understand the challenges that expanding genetic risk assessment and into primary care pose.¹ This is especially opportune given its online publication in the same week that the Secretary of State Matt Hancock announced the plan for the NHS to offer genomic testing to healthy individuals for a fee.²

Direct-to-consumer genetic testing is already available. Companies such as 23andme (https://www.23andme.com/en-gb/dna-health-ancestry/#all-reports-list) will give you a ‘genetic health risk’ including the cancer risk genes (BRCA1 and 2), Alzheimer’s dementia (APOE variant), as well as several other later-onset conditions and carrier status for in excess of 40 recessive conditions. Such testing currently has significant limitations, increasing health anxiety for some and falsely reassuring others.³ Such tests include substantial disclaimers, advice to discuss findings with healthcare professionals, and having confirmatory testing before taking action on any findings.

The NHS is also ‘mainstreaming’ genomic technologies for its patients, with the adoption of genetic testing outside of its traditional domain, clinical genetic departments. This change requires increased genomic literacy — discussing risks, interpreting results, and managing uncertainty — across a range of healthcare professionals including GPs.

The review by Laforest et al highlights the lack of knowledge and confidence that GPs have in one of these key areas, cancer genetics.¹ They highlight the uncertainties and inconsistencies in how one should approach such patients and the lack of capacity in primary care to take on such a role. With the NHS now endorsing such direct-to-consumer testing, patients will undoubtedly wish and expect to be able to discuss findings with their GPs, who currently are inadequately prepared and resourced to do such a job.

How one should approach such a challenge is unclear. There is certainly a need for greater genomics education for the primary care team. It may also require a restructuring or expansion of the clinical genetics services, even a role for primary care-based genetic services.⁴ Greater clarity of appropriate referral pathways and respective responsibilities will also be critical to ensure that appropriate advice is given and resources are used optimally.

This review highlights some of the issues that will need to be overcome to fully embrace the potential of these genomic technologies in primary care.