Preliminary pharmacogenetic data strongly suggest an important role for the use of germline genetic information in the individualization of treatment and prevention of breast cancer. The potential value of these data as individual genotypic predictors may be valuable or, more likely, patterns of genetic markers analogous to the expression profiles obtained from tumor tissue may allow more powerful prediction of who will respond best to a specific treatment or regimen. For the potential of genomic research to be fulfilled, prospective trials with clinical outcomes as end points will have to include the collection of germline DNA either in blood, or by buccal swab. Although the collection of DNA for such pharmacogenetic testing raises a number of important ethical issues that mandate the use of an appropriate informed consent process, sufficient experience has now been catalogued to allow broad guidelines for such an informed consent to be constructed. Investigators are now equipped with robust genetic tools with which to examine in detail multiple relationships between germline genetic variants and response to the treatment of breast cancer. A future in which genetics will contribute to the precise prescription of treatments for breast cancer, with the attendant benefits to patients, is now foreseeable, but much research remains to be done. Critical to this work will be the prospective collection of germline DNA from patients enrolled in large clinical trials of defined treatment with clinical determination of outcome.
ASJC Scopus subject areas
- Molecular Medicine