Developing the infrastructure, processes and capabilities required for cancer gene testing to become routinely available to those that can benefit is an essential component of the Mainstreaming Cancer Genetics (MCG) programme.
Today we have published a report of a national consultation which we held with senior clinical representatives from all 24 UK NHS cancer genetic services.
The report, published in Genome Medicine, makes the following key recommendations and key challenges to delivering optimal gene testing for people with cancer and their families in the UK:
- Mainstreaming of cancer gene testing, with tests in cancer patients performed through the routine cancer patient pathway, is likely to be the optimal approach to deliver the required volume of tests.
- Mainstreaming should be implemented in collaboration with genetics, who should continue to see any individuals found to have mutations, and any complex cases.
- Nationally agreed, evidence-based, simple guidelines outlining eligibility for gene testing are required to ensure national consistency.
- Consistent clinical interpretation of variants is required. Improved training and support for geneticists in clinical variant interpretation together with improved automated interpretation pipelines should be developed.
- A sustainable model of resource allocation that promotes and supports this mainstreamed model of service delivery is required.
Key challenges identified
- Lack of capacity of cancer genetic services at a time of greatly increased demand for cancer gene testing from patients and clinicians.
- Inconsistency of services and patient management, particularly with regard to testing eligibility, risk estimation and variant interpretation practices.
- Education of non-geneticists to ensure appropriate information and support is provided to the patients they test.
- Improved education of genetic services in clinical interpretation and management of genetic variants.
- Sufficient and appropriately configured funding.
This national consultation with UK NHS cancer genetic services is a key component of the MCG programme’s ongoing Implementation and Education & Engagement activities, and complements previous consultations held by the programme with UK molecular genetics laboratories and UK cancer charities.