• Vol. 40 No. 8, 350–355
  • 15 August 2011

Germline Genetic Testing to Predict Drug Response and Toxicity in Oncology— Reality or Fiction?



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In addition to 6-mercaptopurine, 5-fluorouracil and irinotecan, the United States Food and Drug Administration (US FDA) has recently recommended label change for tamoxifen, to include pharmacogenetic information on treatment outcome. With the increasing availability of pharmacogenetic testing, on germline as well as somatic mutations, oncologists are now able to identify individuals at risk of severe treatment toxicity or poor treatment response. However, there are still knowledge gaps to fill before rationalised therapy based on pharmacogenetics can be fully integrated into clinical practice. This review provides an overview on the application of pharmacogenetic testing for germ line mutations in oncology to predict response and toxicity.

There is an increasing interest in personalised medicine, perhaps none greater than in the field of oncology. The idea of making therapeutic decisions based on an individual’s genetic makeup, with the ability to predict tumour response, as well as minimise toxicity is extremely appealing to the oncologist. This is especially because many chemotherapeutic agents have a narrow therapeutic index. To date, there are at least 5 United States Food and Drug Administration (US FDA) drug labels with recommendations for germline genetic testing to be considered prior to administration of the drug or drug group for the treatment of cancer. This review aims to provide a brief insight on the genetic basis for inter-individual variations in therapeutic outcome relevant to key classes of anticancer agents and the potential application of genetic testing for treatment.

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