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.
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