Maurie Markman, MD
The advances in our technical ability to successfully interrogate the germline DNA of individuals are revolutionary. The costs associated with such efforts have declined dramatically over the past 2 decades and advances in bioinformatics have led to the development of elegant, highly reproducible, and clinically useful algorithms that can be utilized in a rapidly expanding number of settings.
Knowledge of the presence of this variant prior to the use of a platinum agent might result in the selection of alternative treatment strategies, if available, or a decision to employ the lowest possible therapeutically rational cumulative dose of the agent to avoid this distressing toxicity.
Understanding Clinical Relevance
Today, the major challenge is not the discovery of differences in the genetic profiles between individuals but rather understanding the clinical relevance of particular findings. Although there are important examples of single germline abnormalities that are known to result in specific medical conditions or illnesses, it is increasingly clear that the relationship between human disease and our DNA is far more complex.
The recent introduction of direct-to-consumer (DTC) genetic testing has added complexity to this discussion.6
The issue here is not the right of individuals to obtain information regarding their own genetic makeup; it is how to provide biologically and clinically valid interpretation of the data. This is a very complex discussion and includes concerns about overstating and understanding the relevance of a specific finding, providing inappropriate assurances regarding the nature of cancer- or other diseaseassociated risk, or increasing anxiety over the potential for the development of a malignancy (or other illness) where an objective assessment of currently available data simply does not support such concern.
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