Mirnezami, R., Nicholson, J., & Darzi, A. (2012). Preparing for Precision Medicine. New England Journal of Medicine. Retrieved from http://www.nejm.org/doi/full/10.1056/NEJMp1114866.
“Ms. H. is a 35-year-old woman from Japan who has had a cough for 3 weeks. Her physician sends her for an x-ray and CT scan that reveal an advanced lesion, which a biopsy confirms to be non–small-cell lung cancer. She has never smoked. Can anything be done for her?
Had Ms. H.’s cancer been diagnosed before 2004, her oncologist might have offered her a treatment to which about 10% of patients have a response, with the remainder gaining a negligible survival benefit and experiencing clinically significant side effects. But her diagnosis was made in 2011, when her biopsy tissue could be analyzed for a panel of genetic variants that can reliably predict whether the disease will respond to treatment. Her tumor was shown to be responsive to a specific targeted agent, whose administration led to a remission lasting almost a year; her only side effect was a rash.
This scenario illustrates the fundamental idea behind personalized medicine: coupling established clinical–pathological indexes with state-of-the-art molecular profiling to create diagnostic, prognostic, and therapeutic strategies precisely tailored to each patient’s requirements — hence the term “precision medicine.” Recent biotechnological advances have led to an explosion of disease-relevant molecular information, with the potential for greatly advancing patient care. However, progress brings new challenges, and the success of precision medicine will depend on establishing frameworks for regulating, compiling, and interpreting the influx of information that can keep pace with rapid scientific developments. In addition, we must make health care stakeholders aware that precision medicine is no longer just a blip on the horizon — and ensure that it lives up to its promise.”