October 11, 2013 - Of 350 papers considered for this review, Tenenbaum's was selected as one of 25 of the important contributions to translational Bioinformatics in 2013.
Of 350 papers considered for this review, Tenenbaum's was selected as one of 25 of the important contributions to translational Bioinformatics in 2013.
- “Provide an overview of the scientiﬁc trends and publications in translational bioinformatics
- Create a 'snapshot' of what seems to be important in March, 2013 for the amusement of future generations.
- Marvel at the progress made and the opportunities ahead.”
In addition to this honor, Tenenbaum has also been invited to present this paper at 2nd Annual Biomedical Informatics Symposium at Georgetwon University on October 11, 2013.
Direct to consumer (DTC) genomic services facilitate the personalized and participatory aspects of _P4_ medicine, but raise questions regarding use of genomic data in providing predictive and preventive healthcare. We illustrate the issues involved by describing a pregnancy management case in which a treatment plan was modified based on a DTC result. A woman whose personal and family history were otherwise unremarkable for thromboembolism learned through DTC testing about the presence of a prothrombin (factor 2) gene mutation (rs1799963). Twice daily injections of enoxaparin were recommended throughout pregnancy for this patient who, without prior knowledge of this mutation, would not have been offered such therapy. Moreover, genetically based medical guidelines are a moving target, and treatment of thrombophilic conditions in asymptomatic patients is controversial. We address the state of the art in actionable personalized medicine with respect to clotting disorders in pregnancy, as well as other factors at play- economics, patient preference, and clinical decision support. We also discuss what steps are needed to increase the utility of genomic data in personalized medicine by collecting information and converting it into actionable knowledge.