Gene function

Next generation sequencing (NGS) leads to the discovery of many new genetic variants, as outlined by Volker Lauschke et al. in Requirements for comprehensive pharmacogenetic genotyping platforms. A challenge is how to evaluate the functional consequences of these mutations. A discussion of this is given by Ingelman-Sundberg et al. in the article Integrating rare genetic variants into pharmacogenetic drug response predictions. A potenitally very interesting reference in that work (currently in reviview), is called An optimized prediction framework to assess the functional impact of pharmacogenetic variants, by Yitian Zhou at the Department of Physiology and Pharmacology at Karolinska Institutet.

Ingelman-Sundberg et al. also propose a high-throughput in vitro method for gene function evaluation in Human liver spheroids in chemically defined conditions for studies of gene–drug, drug–drug and disease–drug interactions. This idea is the basis of the company HepaPredict AB.