Wednesday, May 23, 2018

p53 and Me


by Shekinah N.C. Elmore, MD
NEJM May 24, 2018

This is an extraordinary Perspective  piece in the New England Journal by a young oncology resident who has the p53  mutation. This is seen in people with Li-Fraumani syndrome.

" A mutation like mine threatens to consume your whole imagination, especially with regards to the future. You start making crazy calculations..."

" Genetic knowledge is power only if both clinician and patient are equipped to move beyond a result and toward action, even if that merely means living well with what we know."

 She feels that people like her need to be studied not just for the data of their genomics but to help build programs for learning to teach people how to live with the uncertainties that their mutations will engender. 

This short essay is has many valuable teaching moments. She says, "I want as many of my days as possible to be untethered to the scans, biopsies and long waiting room sojourns. This is a cry from one who has been there for minimally disruptive medicine.


-->