One of the “big things” we hope to achieve in the near future with the help of next generation sequencing (and other modern laboratory and diagnostic methods) is personalized medicine. If you”re not familiar with the term, check out this Wikipedia article. Very briefly, personalized medicine (or PM) includes everything from drug selection to disease prevention strategies, it just has to be tailored to the needs of a specific patient.
On long winter nights, I sit around in my armchair with a hot toddy dreaming about a world where the parents of every newborn get a package that contains every medically relevant information they need to know about their baby. This way they will have the information to get treatment for or even prevent most of the genetically determined medical issues of their child. I know, that currently we”re very-very far away from this and mankind has way more serious problems at the moment than the lack of personalized medicine. (Just to give you an example: according to the WHO, more than a million children died just in 2008 from diseases that could”ve been easily prevented by routine vaccination). I”m also aware of the possible ethical issues (or at least some of them). Still, it”s good to dream sometimes.
Keeping the bigger problems in mind, let”s see what has been done about personalized medicine in the more fortunate part of this “utterly insignificant little blue green planet”.
One of the “flagships” of personalized medicine is cancer. Many preliminary and pilot studies have been already completed for different types and subtypes of cancer:
Epigenetics Advancing Personalized Nanomedicine in Cancer Therapy Liu 2013
Personalized Medicine and Oncology Practice Guidelines: A Case Study of Contemporary Biomarkers in Colorectal Cancer Kelley et al. 2011
Benefits, issues, and recommendations for personalized medicine in oncology in Canada Butts et al. 2013
Personalized prediction of EGFR mutation-induced drug resistance in lung cancer Wang et al. 2013
Another fast evolving area is pharmacogenomics:
A Systematically Combined Genotype and Functional Combination Analysis of CYP2E1, CYP2D6, CYP2C9, CYP2C19 in Different Geographic Areas of Mainland China – A Basis for Personalized Therapy Wu et al. 2013
Personalized medicine: is it a pharmacogenetic mirage? Shah et al. 2012
The CLIPMERGE PGx Program: Clinical Implementation of Personalized Medicine through Electronic Health Records and Genomics – Pharmacogenomics Gottesman et al. 2013
Unraveling human complexity and disease with systems biology and personalized medicine Neylor et al. 2010
There”s also a lively discussion going on about the ethics and future of personalized medicine and other closely related issues (e.g. biobanks):
