Appendix A
References
BIO (Biotechnology Innovation Organization). 2016. Clinical development success rates 2006–2015. https://www.bio.org/sites/default/files/Clinical%20Development%20Success%20Rates%202006-2015%20-%20BIO,%20Biomedtracker,%20Amplion%202016.pdf (accessed April 26, 2017).
Brooks, P. J., D. A. Tagle, and S. Groft. 2014. Expanding rare disease drug trials based on shared molecular etiology. Nature Biotechnology 32(6):515–518.
Bustamante, C. D., E. G. Burchard, and F.M. De la Vega. 2011. Genomics for the world. Nature 475(7355):163–165.
Camp, K. M., D. Krotoski, M. A. Parisi, K. A. Gwinn, B. H. Cohen, C. S. Cox, G. M. Enns, M. J. Falk, A. C. Goldstein, R. Gopal-Srivastava, G. S. Gorman, S. P. Hersh, M. Hirano, F. A. Hoffman, A. Karaa, E. L. MacLeod, R. McFarland, C. Mohan, A. E. Mulberg, J. C. Odenkirchen, S. Parikh, P. J. Rutherford, S. K. Suggs-Anderson, W. H. Tang, J. Vockley, L. A. Wolfe, S. Yannicelli, P. E. Yeske, and P. M. Coates. 2016. Nutritional interventions in primary mitochondrial disorders: Developing an evidence base. Molecular Genetics Metabolism 119(3):187–206.
Das, I., A. Krzyzosiak, K. Schneider, L. Wrabetz, M. D’Antonio, N. Barry, A. Sigurdardottir, and A. Bertolotti. 2015. Preventing proteostasis diseases by selective inhibition of a phosphatase regulatory subunit. Science 348(6231):239–242.
Dolgos, H., M. Trusheim, D. Gross, J. P. Halle, J. Ogden, B. Osterwalder, E. Sedman, and L. Rossetti. 2016. Translational Medicine Guide transforms drug development processes: The recent Merck experience. Drug Discovery Today 21(3):517–526.
Drilon, A., S. Siena, S. Ou, M. Patel, M. Ahn, J. Lee, T. M. Bauer, A. F. Farago, J. J. Wheler, S. V. Liu, R. Doebele, L. Giannetta, G. Cerea, G. Marrapese, M. Schirru, A. Amatu, K. Bencardino, L. Palmeri, A. Sartore-Bianchi, A. Vanzulli, S. Cresta, S. Damian, M. Duca, E. Ardini, G. Li, J. Christiansen, K. Kowalski, A. D. Johnson, R. Patel, D. Luo, E. Chow-Maneval, Z. Hornby, P. S. Multani, A. T. Shaw, and F. G. De Braud. 2017. Safety and antitumor activity of the multitargeted pan-TRK, ROS1, and ALK inhibitor entrectinib: Combined results from two Phase I Trials (ALKA-372-001 and STARTRK-1). Cancer Discovery 7(4):400–409.
Falk, M. J., L. Shen, M. Gonzalez, J. Leipzig, M. T. Lott, A. P. Stassen, M. A. Diroma, D. Navarro-Gomez, P. Yeske, R. Bai, R. G. Boles, V. Brilhante, D. Ralph, J. T. DaRe, R. Shelton, S. F. Terry, Z. Zhang, W. C. Copeland, M. van Oven, H. Prokisch, D. C. Wallace, M. Attimonelli, D. Krotoski, S. Zuchner, X. Gai, and the MSeqDR Consortium Participants. 2015. Mitochondrial Disease Sequence Data Resource (MSeqDR): A global grassroots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities. Molecular Genetics and Metabolism 114(3):388–396.
Getz, K., R. Zuckerman, A. Cropp, A. Hindle, R. Krauss, and K. Kaitin. 2011. Measuring the incidence, causes, and repercussions of protocol amendments. Drug Information Journal 45:265–275.
Getz, K., S. Stergiopoulos, M. Short, L. Surgeon, R. Krauss, A. Pretorius, J. Desmond, and D. Dunn. 2016. The impact of protocol amendments on clinical trial performance and cost. Therapeutic Innovation & Regulatory Science 50(4):436–441.
Green, E. D., M. S. Guyer, and National Human Genome Research Institute. 2011. Charting a course for genomic medicine from base pairs to bedside. Nature 470(7333):204–213.
Haas, R. H., S. Parikh, M. J. Falk, R. P. Saneto, N. Wolf, N. Darin, and B. H. Cohen. 2007. Mitochondrial disease: A practical approach for primary care physicians. Pediatrics 120(6):1326–1333.
Herbst, R. S., A. M. Maddox, M. L. Rothenberg, E. J. Small, E. H. Rubin, J. Baselga, F. Rojo, W. K. Hong, H. Swaisland, S. D. Averbuch, J. Ochs, and P. M. Russo. 2002. Selective oral epidermal growth factor receptor tyrosine kinase inhibitor ZD1839 is generally well-tolerated and has activity in non-small-cell lung cancer and other solid tumors: Results of a phase I trial. Journal of Clinical Oncology 20(18):3815–3825.
Hetherington, S., A. R. Hughes, M. Mosteller, D. Shortino, K. L. Baker, W. Spreen, E. Lai, K. Davies, A. Handley, D. J. Dow, M. E. Fling, M. Stocum, C. Bowman, L. M. Thurmond, and A. D. Roses. 2002. Genetic variations in HLA-B region and hypersensitivity reactions to abacavir. Lancet 359(9312):1121–1122.
Holmes, Jr., D. R., G. J. Dehmer, S. Kaul, D. Leifer, P. T. O’Gara, and C. M. Stein. 2010. ACCF/AHA Clopidogrel clinical alert: Approaches to the FDA “boxed warning”: A report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the American Heart Association. Circulation 122(5):537–557.
Hughes, S., A. Hughes, C. Brothers, W. Spreen, and D. Thorborn. 2008. PREDICT-1 (CNA106030): The first powered, prospective trial of pharmacogenetic screening to reduce drug adverse events. Pharamaceutical Statistics 7:121–129.
IOM (Institute of Medicine). 2010. A national cancer clinical trials system for the 21st century: Reinvigorating the NCI Cooperative Group Program. Washington, DC: The National Academies Press.
IOM. 2011. Establishing precompetitive collaborations to stimulate genomics-driven product development: Workshop summary. Washington, DC: The National Academies Press.
IOM. 2014. Refining processes for the co-development of genome-based therapeutics and companion diagnostic tests: Workshop summary. Washington, DC: The National Academies Press.
Khera, A. V., H. H. Won, G. M. Peloso, C. O’Dushlaine, D. Liu, N. O. Stitziel, P. Natarajan, A. Nomura, C. A. Emdin, N. Gupta, I. B. Borecki, R. Asselta, S. Duga, P. A. Merlini, A. Correa, T. Kessler, J. G. Wilson, M. J. Bown, A. S. Hall, P. S. Braund, D. J. Carey, M. F. Murray, H. L. Kirchner, J. B. Leader, D. R. Lavage, J. N. Manus, D. N. Hartzel, N. J. Samani, H. Schunkert, J. Marrugat, R. Elosua, R. McPherson, M. Farrall, H. Watkins, E. S. Lander, D. J. Rader, J. Danesh, D. Ardissino, S. Gabriel, C. Willer, G. R. Abecasis, D. Saleheen, F. E. Dewey, S. Kathiresan, and the Myocardial Infarction Genetics Consortium, DiscovEHR Study Group, CARDIoGRAM Exome Consortium, and Global Lipids Genetics Consortium. 2017. Association of rare and common variation in the lipoprotein lipase gene with coronary artery Disease. JAMA 317(9):937–946.
Koopman, W. J., P. H. Willems, and J. A. Smeitink. 2012. Monogenic mitochondrial disorders. New England Journal of Medicine 366(12):1132–1141.
Levine, G. N., E. R. Bates, J. C. Blankenship, S. R. Bailey, J. A. Bittl, B. Cercek, C. E. Chambers, S. G. Ellis, R. A. Guyton, S. M. Hollenberg, U. M. Khot, R. A. Lange, L. Mauri, R. Mehran, I. D. Moussa, D. Mukherjee, B. K. Nallamothu, and H. H. Ting. 2011. 2011 ACCF/AHA/SCAI Guideline for Percutaneous Coronary Intervention: A report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines and the Society for Cardiovascular Angiography and Interventions. Circulation 124(23):e574–e651.
Mallal, S., E. Phillips, G. Carosi, J. M. Molina, C. Workman, J. Tomazic, E. Jägel-Guedes, S. Rugina, O. Kozyrev, J. F. Cid, P. Hay, D. Nolan, S. Hughes, A. Hughes, S. Ryan, N. Fitch, D. Thorborn, A. Benbow, and the PREDICT-1 Study Team. 2008. HLA-B5701 screening for hypersensitivity to abacavir. New England Journal of Medicine 358(6):568–579.
Manrai, A. K., B. H. Funke, H. L. Rehm, M. S. Olesen, B. A. Maron, P. Szolovits, D. M. Margulies, J. Loscalzo, and I. S. Kohane. 2016. Genetic misdiagnoses and the potential for health disparities. New England Journal of Medicine 375(7):655–665.
Martin, M. A., J. M. Hoffman, R. R. Freimuth, T. E. Klein, B. J. Dong, M. Pirmohamed, J. K. Hicks, M. R. Wilkinson, D. W. Haas, D. L. Kroetz, and the Clinical Pharmacogenetics Implementation Consortium. 2014. Clinical Pharmacogenetics Implementation Consortium guidelines for HLA-B genotype and abacavir dosing: 2014 update. Clinical Pharmacology & Therapeutics 95(5):499–500.
Mega, J. L., T. Simon, J. P. Collet, J. L. Anderson, E. M. Antman, K. Bliden, C. P. Cannon, N. Danchin, B. Giusti, P. Gurbel, B. D. Horne, J. S. Hulot, A. Kastrati, G. Montalescot, F. J. Neumann, L. Shen, D. Sibbing, P. G. Steg, D. Trenk, S. D. Wiviott, and M. S. Sabatine. 2010. Reduced-function CYP2C19 genotype and risk of adverse clinical outcomes among patients treated with clopidogrel predominantly for PCI: A meta-analysis. JAMA 304(16):1821–1830.
Mosteller, M., L. Hosking, K. Murphy, J. Shen, K. Song, M. Nelson, and S. Ghosh. 2017. No evidence of large genetic effects on steroid response in asthma patients. Journal of Allergy and Clinical Immunology 139(3):797–803, e7.
Mu, T. W., D. M. Fowler, and J. W. Kelly. 2008. Partial restoration of mutant enzyme homeostasis in three distinct lysosomal storage disease cell lines by altering calcium homeostasis. PLOS Biology 6(2):e26.
NASEM (National Academies of Sciences, Engineering, and Medicine). 2016a. Deriving drug discovery value from large-scale genetic bioresources: Proceedings of a workshop. Washington, DC: The National Academies Press.
NASEM. 2016b. Biomarker tests for molecularly targeted therapies: Key to unlocking precision medicine. Washington, DC: The National Academies Press.
NASEM. 2016c. Biomarker tests for molecularly targeted therapies: Key to unlocking precision medicine: Report in brief. http://nationalacademies.org/hmd/~/media/Files/Report%20Files/2016/Biomarkers/Biomarkers-RiB.pdf (accessed April 26, 2017).
Need, A. C., and D. B. Goldstein. 2009. Next generation disparities in human genomics: concerns and remedies. Trends in Genetics 25(11):489–494.
Nelson, M. R., H. Tipney, J. L. Painter, J. Shen, P. Nicoletti, Y. Shen, A. Floratos, P. C. Sham, M. J. Li, J. Wang, L. R. Cardon, J. C. Whittaker, and P. Sanseau. 2015. The support of human genetic evidence for approved drug indications. Nature Genetics 47(8):856–860.
O’Gara, P. T., F. G. Kushner, D. D. Ascheim, D. E. Casey Jr., M. K. Chung, S. M. de Lemos, S. M. Ettinger, J. C. Fang, F. M. Fesmire, B. A. Franklin, C. B. Granger, H. M. Krumholz, J. A. Linderbaum, D. A. Morrow, L. K. Newby, J. P. Ornato, N. Ou, M. J. Radford, J. E. Tamis-Holland, C. L. Tommaso, C. M. Tracy, Y. J. Woo, D, X. Zhao, J. L. Anderson, A. K. Jacobs, J. L. Halperin, N. M. Albert, R. G. Brindis, M. A. Creager, D. DeMets, R. A. Guyton, J. S. Hochman, R. J. Kovacs, F. G. Kushner, E. M. Ohman, W. G. Stevenson, C. W. Yancy, and the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines. 2013. 2013 ACCF/AHA guideline for the management of ST-elevation myocardial infarction: A report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines. Circulation 127(4):e362–e425.
Oh, S. S., J. Galanter, N. Thakur, M. Pino-Yanes, N. E. Barcelo, M. J. White, D. M. de Bruin, R. M. Greenblatt, K. Bibbins-Domingo, A. H. Wu, L. N. Borrell, C. Gunter, N. R. Powe, and E. G. Burchard. 2015. Diversity in clinical and biomedical research: A promise yet to be fulfilled. PLOS Medicine 12(12):e1001918.
Orkin, C., J. Wang, C. Bergin, J. M. Molina, A. Lazzarin, M. Cavassini, S. Esser, J. L. GomezSirvent, and H. Pearce. 2010. An epidemiologic study to determine the prevalence of the HLA-B5701 allele among HIV-positive patients in Europe. Pharmacogenetics and Genomics 20(5):307–314.
Plenge, R. M. 2016. Disciplined approach to drug discovery and early development. Science Translational Medicine 8(349):349ps15.
Plenge, R. M., E. M. Scolnick, and D. Altshuler. 2013. Validating therapeutic targets through human genetics. Nature Reviews Drug Discovery 12(8):581–594.
Popejoy, A. B., and S. M. Fullerton. 2016. Genomics is failing on diversity. Nature 538(7624):161–164.
Prucka, S. K., L. J. Arnold, J. E. Brandt, S. Gilardi, L. C. Harty, F. Hong, J. Malia, and D. J. Pulford. 2015. An update to returning genetic research results to individuals: perspectives of the industry pharmacogenomics working group. Bioethics 29(2):82–90.
Ruiz-Canela, M., J. I. Valle-Mansilla, and D. Sulmasy. 2011. What research participants want to know about genetic research results: the impact of “genetic exceptionalism.” Journal of Empirical Research on Human Research Ethics 6(3):39–46.
Schiller, J. H., D. Harrington, C. P. Belani, C. Langer, A. Sandler, J. Krook, J. Zhu, D. H. Johnson, and the Eastern Cooperative Oncology Group. 2002. Comparison of four chemotherapy regimens for advanced non-small-cell lung cancer. New England Journal of Medicine 346(2):92–98.
Staropoli, J. F., H. Li, S. J. Chun, N. Allaire, P. Cullen, A. Thai, C. M. Fleet, Y. Hua, C. F. Bennett, A. R. Krainer, D. Kerr, A. McCampbell, F. Rigo, and J. P. Carulli. 2015. Rescue of gene-expression changes in an induced mouse model of spinal muscular atrophy by an antisense oligonucleotide that promotes inclusion of SMN2 exon 7. Genomics 105(4):220–228.
Taylor, J. L., F. K. Lee, G. K. Yazdanpanah, J. F. Staropoli, M. Liu, J. P. Carulli, C. Sun, S. F. Dobrowolski, W. H. Hannon, and R. F. Vogt. 2015. Newborn blood spot screening test using multiplexed real-time PCR to simultaneously screen for spinal muscular atrophy and severe combined immunodeficiency. Clinical Chemistry 61(2):412–419.
Trusheim, M. R., A. A. Shrier, Z. Antonijevic, R. A. Beckman, R. K. Campbell, C. Chen, K. T. Flaherty, J. Loewy, D. Lacombe, S. Madhavan, H. P. Selker, and L. J. Esserman. 2016. PIPELINEs: Creating comparable clinical knowledge efficiently by linking trial platforms. Clinical Pharmacology & Therapeutics 100(6):713–729.
U.S. Cancer Statistics Working Group. 2016. United States Cancer Statistics: 1999–2013 Incidence and Mortality Web-based Report. Atlanta: U.S. Department of Health and Human Services, Centers for Disease Control and Prevention and National Cancer Institute. www.cdc.gov/uscs (accessed May 6, 2017).
Wang, F., and L. Segatori. 2013. Remodeling the proteostasis network to rescue glucocerebrosidase variants by inhibiting ER-associated degradation and enhancing ER folding. PLoS ONE 8(4):e61418.
Williams, L. K., C. L. Joseph, E. L. Peterson, K. Wells, M. Wang, V. K. Chowdhry, M. Walsh, J. Campbell, C. S. Rand, A. J. Apter, D. E. Lanfear, K. Tunceli, and M. Pladevall. 2007. Patients with asthma who do not fill their inhaled corticosteroids: A study of primary nonadherence. Journal of Allergy and Clinical Immunology 120(5):1153–1159.
Yancey, A. K., A. N. Ortega, and S. K. Kumanyika. 2006. Effective recruitment and retention of minority research participants. Annual Reviews of Public Health 27:1–28.
Yang, L., G. D. Zhan, J. J. Ding, H. J. Wang, D. Ma, G. Y. Huang, and W. H. Zhou. 2013. Psychiatric illness and intellectual disability in the Prader-Willi syndrome with different molecular defects—a meta analysis. PLoS ONE 8(8):e72640.
Yildirim, O., M. Gottwald, P. Schuler, and M. C. Michel. 2016. Opportunities and challenges for drug development: Public–private partnerships, adaptive designs and big data. Frontiers in Pharmacology 7:461.
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