Clinical cancer genetics in the era of personalised cancer medicine


Session type:

Judy E. Garber
Dana-Farber Cancer Institute, Boston, USA


For the past 20 years, we have been evaluating cancer patients and families individually, seeking to identify individuals carrying mutations in specific genes conferring increased risk of cancers as part of specific syndromes. Often the syndrome is known, and patients meeting criteria are tested to see whether a mutation in a particular gene or set of genes is present. In other cases, a syndrome definition has been expanded because of careful observation of individuals carrying mutations in a specific gene or group of related genes.

As the cost of genomic (whole genome) analysis plummets, it will no longer make sense to test individual genes sequentially. Individuals whose tumours are genetically characterised have germline sequences analysed as well. Mutations are identified both in cancer-related genes and in genes unrelated to cancer, a subset of which will have other clinical import.

Initially genomics is available through research protocols, but individual companies are performing analysis, either in research or individually directly to patients. Researchers utilising genomic data in treatment trials will be generating germline data, some of which will be important for pharmacogenomics. Disease-associated and cancer susceptibility sequence alterations may not be of primary interest to individuals with active disease looking for targeted treatment options. However, the germline data may still be important for their children and other relatives.

Several federally-funded projects are underway in the US to develop models in which to work out many of the issues associated with bringing cancer genomics to health care. Our project is just underway, but has provided the opportunity to develop and implement systems for the incorporation of cancer genomics into practice.