The exemplar of cancer
| Increased tumour testing to guide acute clinical management of the cancer patient is happening apace, and is embedded in the new test directories. Currently, there is no immediate plan to implement paired constitutional sequencing for cancer patients undergoing somatic (tumour) genetic testing unless the first line test is whole genome sequencing. Therefore, a direct clinical interface between the oncologist and geneticist is required to enable the interpretation of somatic data with respect not only to acute cancer management, but also to embed referral and management pathways into inherited cancer services where it is possible that a heritable susceptibility to cancer may also be present. Most cancer predisposition genes increase the risk of multiple tumours. It is important that the possibility of additional primary tumours is discussed with the patient and that at-risk relatives requiring cancer prevention, screening advice or cascade genetic testing can be identified. |
| One possible way of developing these new pathways is through increasing engagement of cancer geneticists at both central molecular tumour boards and local oncology multidisciplinary team (MDT) meetings. However, the significantly fewer numbers of cancer geneticists vs numbers of oncology MDTs presents a logistic challenge to this model. Training in cancer genomics is embedded in the medical oncology training curriculum and this must take the form of practical experience, with training oncologists spending time with clinical geneticists and training in the interpretation of somatic genomics data identified in tumour tissue. Innovations, such as using digital family history assessment to identify those at increased multifactorial risk, alongside new pathways for referral into clinical genetics services on the basis of somatic test findings are required. Both centralised and local guidelines and pathways need to be implemented to enable integrated use of molecular data for the management of both the acute cancer and relapse, but also prediction of future cancer risk and risk to relatives. This will embed both precision medicine and Screening, Prevention and Early Detection (SPED) measures into routine care pathways. |