Browsing by keyword "personalized medicine"

Now showing items 1-3 of 3

    • Clinical Applications of 3D Printing: Primer for Radiologists
      Ballard, David H.; Trace, Anthony Paul; Ali, Sayed; Hodgdon, Taryn; Zygmont, Matthew E.; Debenedectis, Carolynn M.; Smith, Stacy E.; Richardson, Michael L.; Patel, Midhir J.; Decker, Summer J.; et al. (2018-01-01)
      Three-dimensional (3D) printing refers to a number of manufacturing technologies that create physical models from digital information. Radiology is poised to advance the application of 3D printing in health care because our specialty has an established history of acquiring and managing the digital information needed to create such models. The 3D Printing Task Force of the Radiology Research Alliance presents a review of the clinical applications of this burgeoning technology, with a focus on the opportunities for radiology. Topics include uses for treatment planning, medical education, and procedural simulation, as well as patient education. Challenges for creating custom implantable devices including financial and regulatory processes for clinical application are reviewed. Precedent procedures that may translate to this new technology are discussed. The task force identifies research opportunities needed to document the value of 3D printing as it relates to patient care.

    • Integrative analysis of RNA, translation and protein levels reveals distinct regulatory variation across humans [preprint]
      Cenik, Can; Cenik, Elif Sarinay; Byeon, Gun W.; Grubert, Fabian; Candille, Sophie I.; Spacek, Damek; Alsallakh, Bilal; Tilgner, Hagen; Araya, Carlos L.; Tang, Hua; et al. (2015-04-26)
      Elucidating the consequences of genetic differences between humans is essential for understanding phenotypic diversity and personalized medicine. Although variation in RNA levels, transcription factor binding and chromatin have been explored, little is known about global variation in translation and its genetic determinants. We used ribosome profiling, RNA sequencing, and mass spectrometry to perform an integrated analysis in lymphoblastoid cell lines from a diverse group of individuals. We find significant differences in RNA, translation, and protein levels suggesting diverse mechanisms of personalized gene expression control. Combined analysis of RNA expression and ribosome occupancy improves the identification of individual protein level differences. Finally, we identify genetic differences that specifically modulate ribosome occupancy - many of these differences lie close to start codons and upstream ORFs. Our results reveal a new level of gene expression variation among humans and indicate that genetic variants can cause changes in protein levels through effects on translation.

    • The Implementation Process for Pharmacogenomic Testing for Cancer-Targeted Therapies
      Wu, Ann Chen; Mazor, Kathleen M.; Ceccarelli, Rachel; Loomer, Stephanie; Lu, Christine Y. (2018-10-01)
      Recent advances in genomic medicine have led to the availability of genomic tests that have the potential to improve population health, yet the process for obtaining these tests and getting them reimbursed by insurers has not been described. The objective of this study was to describe the process of ordering pharmacogenomic tests by interviewing providers, patients, and laboratories about cancer-related pharmacogenomic tests. We interviewed patients who were prescribed, providers who prescribed medications that should be guided by pharmacogenomic testing, and individuals from diagnostic laboratories. A total of 10 providers, 16 patients, and eight diagnostic laboratories described logistical and insurance issues relating to ordering and receiving pharmacogenomic tests and medications. We found that the process of ordering pharmacogenomic tests is time-consuming, expensive, and complex. Ordering pharmacogenomic tests is quite different across institutions. Even in the same institution, multiple providers can order the test. Once the provider places the order for the pharmacogenomic test, the laboratory receives the request and usually begins testing without knowing how the test will be paid for. Next, the laboratory completes the pharmacogenomic testing and the results of the tests are reported to providers, patients, or placed directly in the medical record. In conclusion, processes related to ordering and obtaining insurance coverage for pharmacogenomic tests varies greatly across institutions and is time-consuming.