Personalized Genetics: Coffee, Cancer and a Pharmacogenomic Therapy

Even if I should study emergency medicine now, I would like to share interesting and useful links with you. Here are the most important articles, announcements of personalized genetics from the last few days. This edition focuses on breast cancer:

  • Pharmacogenomics Rising (The Gene Sherpa): LabCorp will study the role of polymoprhisms in cytochrome p450 2D6 and women’s response to breast cancer.

A cardinal rule in clinical cancer genetics is that you always want to do the genetic test on someone in the family who has had a cancer diagnosis that is suspicious for the risk syndrome that you are considering. If either of this woman’s aunts were alive, they would clearly be the best people to test first.

However, they both died of their disease. In the absence of other individuals with cancer to test, the patient’s healthy father would be the next best person to test.


Almost a decade later, this vision of personalised medicine has yet to become reality. People with hard-to-treat diseases like depression are still being prescribed drugs by trial and error. Adverse drug reactions are still one of the leading causes of death in the developed world.

  • Integrative Medicine and Experimental Pharmacogenomic Therapy in a Child with Niemann-Pick Disease (NPD), Type A (

[slideshare id=25032&doc=macogenomintegrative-medicine-and-experimental-pharmacogenomic-therapy-in-a-child-with-niemannpick-disease-npd-type-a-28008&w=425]

Further reading: