Browsing by Author "Relling, Mary V."

Now showing 1 - 4 of 4
  • Thumbnail Image
    Item
    A research agenda to support the development and implementation of genomics-based clinical informatics tools and resources
    (Oxford University Press, 2022) Wiley, Ken; Findley, Laura; Goldrich, Madison; Rakhra-Burris, Tejinder K.; Stevens, Ana; Williams, Pamela; Bult, Carol J.; Chisholm, Rex; Deverka, Patricia; Ginsburg, Geoffrey S.; Green, Eric D.; Jarvik, Gail; Mensah, George A.; Ramos, Erin; Relling, Mary V.; Roden, Dan M.; Rowley, Robb; Alterovitz, Gil; Aronson, Samuel; Bastarache, Lisa; Cimino, James J.; Crowgey, Erin L.; Del Fiol, Guilherme; Freimuth, Robert R.; Hoffman, Mark A.; Jeff, Janina; Johnson, Kevin; Kawamoto, Kensaku; Madhavan, Subha; Mendonca, Eneida A.; Ohno-Machado, Lucila; Pratap, Siddharth; Overby Taylor, Casey; Ritchie, Marylyn D.; Walton, Nephi; Weng, Chunhua; Zayas-Cabán, Teresa; Manolio, Teri A.; Williams, Marc S.; Pediatrics, School of Medicine
    Objective: The Genomic Medicine Working Group of the National Advisory Council for Human Genome Research virtually hosted its 13th genomic medicine meeting titled "Developing a Clinical Genomic Informatics Research Agenda". The meeting's goal was to articulate a research strategy to develop Genomics-based Clinical Informatics Tools and Resources (GCIT) to improve the detection, treatment, and reporting of genetic disorders in clinical settings. Materials and methods: Experts from government agencies, the private sector, and academia in genomic medicine and clinical informatics were invited to address the meeting's goals. Invitees were also asked to complete a survey to assess important considerations needed to develop a genomic-based clinical informatics research strategy. Results: Outcomes from the meeting included identifying short-term research needs, such as designing and implementing standards-based interfaces between laboratory information systems and electronic health records, as well as long-term projects, such as identifying and addressing barriers related to the establishment and implementation of genomic data exchange systems that, in turn, the research community could help address. Discussion: Discussions centered on identifying gaps and barriers that impede the use of GCIT in genomic medicine. Emergent themes from the meeting included developing an implementation science framework, defining a value proposition for all stakeholders, fostering engagement with patients and partners to develop applications under patient control, promoting the use of relevant clinical workflows in research, and lowering related barriers to regulatory processes. Another key theme was recognizing pervasive biases in data and information systems, algorithms, access, value, and knowledge repositories and identifying ways to resolve them.
  • Thumbnail Image
    Item
    Cancer Pharmacogenomics and Pharmacoepidemiology: Setting a Research Agenda to Accelerate Translation
    (Oxford University Press, 2010-10-13) Freedman, Andrew N.; Sansbury, Leah B.; Figg, William D.; Potosky, Arnold L.; Smith, Sheila R. Weiss; Khoury, Muin J.; Nelson, Stefanie A.; Weinshilboum, Richard M.; Ratain, Mark J.; McLeod, Howard L.; Epstein, Robert S.; Ginsburg, Geoffrey S.; Schilsky, Richard L.; Liu, Geoffrey; Flockhart, David A.; Ulrich, Cornelia M.; Davis, Robert L.; Lesko, Lawrence J.; Zineh, Issam; Randhawa, Gurvaneet; Ambrosone, Christine B.; Relling, Mary V.; Rothman, Nat; Xie, Heng; Spitz, Margaret R.; Ballard-Barbash, Rachel; Doroshow, James H.; Minasian, Lori M.; Medicine, School of Medicine
    Recent advances in genomic research have demonstrated a substantial role for genomic factors in predicting response to cancer therapies. Researchers in the fields of cancer pharmacogenomics and pharmacoepidemiology seek to understand why individuals respond differently to drug therapy, in terms of both adverse effects and treatment efficacy. To identify research priorities as well as the resources and infrastructure needed to advance these fields, the National Cancer Institute (NCI) sponsored a workshop titled “Cancer Pharmacogenomics: Setting a Research Agenda to Accelerate Translation” on July 21, 2009, in Bethesda, MD. In this commentary, we summarize and discuss five science-based recommendations and four infrastructure-based recommendations that were identified as a result of discussions held during this workshop. Key recommendations include 1) supporting the routine collection of germline and tumor biospecimens in NCI-sponsored clinical trials and in some observational and population-based studies; 2) incorporating pharmacogenomic markers into clinical trials; 3) addressing the ethical, legal, social, and biospecimen- and data-sharing implications of pharmacogenomic and pharmacoepidemiologic research; and 4) establishing partnerships across NCI, with other federal agencies, and with industry. Together, these recommendations will facilitate the discovery and validation of clinical, sociodemographic, lifestyle, and genomic markers related to cancer treatment response and adverse events, and they will improve both the speed and efficiency by which new pharmacogenomic and pharmacoepidemiologic information is translated into clinical practice.
  • Thumbnail Image
    Item
    Pharmacogenetic allele nomenclature: International workgroup recommendations for test result reporting
    (Wiley, 2016-02) Kalman, Lisa V.; Agúndez, José A.G.; Appell, Malin Lindqvist; Bell, Gillian C.; Boukouvala, Sotiria; Bruckner, Carsten; Bruford, Elspeth; Bruckner, Carsten; Caudle, Kelly; Coulthard, Sally; Daly, Ann K.; Del Tredici, Johan T.; Drozda, Katarzyna; Everts, Robin; Flockhart, David; Freimuth, Robert; Gaedigk, Andrea; Hachad, Houda; Hartshorne, Toinette; Ingelman-Sundberg, Magnus; Klein, Teri E.; Lauschke, Volker M.; Maglott, Donna R.; McLeod, Howard L.; McMillin, Gwendolyn A.; Meyer, Urs A.; Müller, Daniel J.; Nickerson, Deborah A.; Oetting, William S.; Pacanowski, Michael; Pratt, Victoria M.; Relling, Mary V.; Roberts, Ali; Rubinstein, Wendy S.; Sangkuhl, Katrin; Schwab, Matthias; Scott, Stuart A.; Sim, Sarah C.; Thirumaran, Ranjit K.; Toji, Lorraine H.; Tyndale, Rachel; van Schaik, Ron HN; Whirl-Carrillo, Michelle; Yeo, Kiang-Teck J.; Zanger, Ulrich M.; Department of Medical & Molecular Genetics, IU School of Medicine
    This manuscript provides nomenclature recommendations developed by an international workgroup to increase transparency and standardization of pharmacogenetic (PGx) result reporting. Presently, sequence variants identified by PGx tests are described using different nomenclature systems. In addition, PGx analysis may detect different sets of variants for each gene, which can affect interpretation of results. This practice has caused confusion and may thereby impede the adoption of clinical PGx testing. Standardization is critical to move PGx forward.
  • Thumbnail Image
    Item
    Research Directions in the Clinical Implementation of Pharmacogenomics: An Overview of US Programs and Projects
    (Wiley, 2018-05) Volpi, Simona; Bult, Carol J.; Chisholm, Rex L.; Deverka, Patricia A.; Ginsburg, Geoffrey S.; Jacob, Howard J.; Kasapi, Melpomeni; McLeod, Howard L.; Roden, Dan M.; Williams, Marc S.; Green, Eric D.; Rodriguez, Laura Lyman; Aronson, Samuel; Cavallari, Larisa H.; Denny, Joshua C.; Dressler, Lynn G.; Johnson, Julie A.; Klein, Teri E.; Leeder, J. Steven; Piquette-Miller, Micheline; Perera, Minoli; Rasmussen-Torvik, Laura J.; Rehm, Heidi L.; Ritchie, Marylyn D.; Skaar, Todd C.; Wagle, Nikhil; Weinshilboum, Richard; Weitzel, Kristin W.; Wildin, Robert; Wilson, John; Manolio, Teri A.; Relling, Mary V.; Pharmacology and Toxicology, School of Medicine
    Response to a drug often differs widely among individual patients. This variability is frequently observed not only with respect to effective responses but also with adverse drug reactions. Matching patients to the drugs that are most likely to be effective and least likely to cause harm is the goal of effective therapeutics. Pharmacogenomics (PGx) holds the promise of precision medicine through elucidating the genetic determinants responsible for pharmacological outcomes and using them to guide drug selection and dosing. Here we survey the US landscape of research programs in PGx implementation, review current advances and clinical applications of PGx, summarize the obstacles that have hindered PGx implementation, and identify the critical knowledge gaps and possible studies needed to help to address them.