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Suggested Citation:"References." Institute of Medicine. 2014. Assessing Genomic Sequencing Information for Health Care Decision Making: Workshop Summary. Washington, DC: The National Academies Press. doi: 10.17226/18799.
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Page 67
Suggested Citation:"References." Institute of Medicine. 2014. Assessing Genomic Sequencing Information for Health Care Decision Making: Workshop Summary. Washington, DC: The National Academies Press. doi: 10.17226/18799.
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Page 68
Suggested Citation:"References." Institute of Medicine. 2014. Assessing Genomic Sequencing Information for Health Care Decision Making: Workshop Summary. Washington, DC: The National Academies Press. doi: 10.17226/18799.
×
Page 69
Suggested Citation:"References." Institute of Medicine. 2014. Assessing Genomic Sequencing Information for Health Care Decision Making: Workshop Summary. Washington, DC: The National Academies Press. doi: 10.17226/18799.
×
Page 70
Suggested Citation:"References." Institute of Medicine. 2014. Assessing Genomic Sequencing Information for Health Care Decision Making: Workshop Summary. Washington, DC: The National Academies Press. doi: 10.17226/18799.
×
Page 71
Suggested Citation:"References." Institute of Medicine. 2014. Assessing Genomic Sequencing Information for Health Care Decision Making: Workshop Summary. Washington, DC: The National Academies Press. doi: 10.17226/18799.
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Page 72

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68 GENOME SEQUENCE INFORMATION IN HEALTH CARE DECISIONS Cirino, A. L., and C. Ho. 2008. Hypertrophic cardiomyopathy overview. R. A. Pagon, M. P. Adam, H. H. Ardinger, et al. (eds.), GeneReviews. Seattle: University of Washington. http://www.ncbi.nlm.nih.gov/books/NBK1768 (accessed May 16, 2014). CMTP (Center for Medical Technology Policy). 2013. Evaluation of clinical validity and clinical utility of actionable molecular diagnostic tests in adult oncology. http://www.cmtpnet.org/docs/resources/MDX_EGD.pdf (accessed May 15, 2014). Collins, F. S. 2010. The language of life: DNA and the revolution in personalized medicine. New York: Harper. Committee on Bioethics, Committee on Genetics, and the American College of Medical Genetics and Genomics Social, Ethical, and Legal Issues Committee. 2013. Ethical and policy issues in genetic testing and screening of children. Pediatrics 131(3):620–622. Coste, B., G. Houge, M. F. Murray, N. Stitziel, M. Bandell, M. A. Giovanni, A. Philippakis, A. Hoischen, G. Riemer, U. Steen, V. M. Steen, J. Mathur, J. Cox, M. Lebo, H. Rehm, S. T. Weiss, J. N. Wood, R. L. Maas, S. R. Sunyaev, and A. Patapoutian. 2013. Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of distal arthrogryposis. Proceedings of the National Academy of Sciences of the United States of America 110(12):4667–4672. Cruchaga, C., C. M. Karch, S. C. Jin, B. A. Benitez, Y. Cai, R. Guerreiro, O. Harari, J. Norton, J. Budde, S. Bertelsen, A. T. Jeng, B. Cooper, T. Skorupa, D. Carrell, D. Levitch, S. Hsu, J. Choi, M. Ryten, U. K. Brain Expression Consortium, J. Hardy, M. Ryten, D. Trabzuni, M. E. Weale, A. Ramasamy, C. Smith, C. Sassi, J. Bras, J. R. Gibbs, D. G. Hernandez M. K. Lupton, J. Powell, P. Forabosco, P. G. Ridge, C. D. Corcoran, J. T. Tschanz, M. C. Norton, R. G. Munger, C. Schmutz, M. Leary, F. Y. Demirci, M. N. Bamne, X. Wang, O. L. Lopez, M. Ganguli, C. Medway, J. Turton, J. Lord, A. Braae, I. Barber, K. Brown, Alzheimer’s Research Consortium U.K., P. Passmore, D. Craig, J. Johnston, B. McGuinness, S. Todd, R. Heun, H. Kolsch, P. G. Kehoe, N. M. Hooper, E. R. Vardy, D. M. Mann, S. Pickering-Brown, K. Brown, N. Kalsheker, J. Lowe, K. Morgan, A. David Smith, G. Wilcock, D. Warden, C. Holmes, P. Pastor, O. Lorenzo-Betancor, Z. Brkanac, E. Scott, E. Topol, K. Morgan, E. Rogaeva, A. B. Singleton, J. Hardy, M. I. Kamboh, P. St George-Hyslop, N. Cairns, J. C. Morris, J. S. Kauwe, and A. M. Goate. 2014. Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer’s disease. Nature 505(7484):550–554. Dean, L. 2013. Warfarin therapy and the genotypes CYP2C9 and VKORC1. Medical Genetics Summaries. http://www.ncbi.nlm.nih.gov/books/NBK84174 (accessed April 29, 2014).

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70 GENOME SEQUENCE INFORMATION IN HEALTH CARE DECISIONS Kimmel, S. E., B. French, S. E. Kasner, J. A. Johnson, J. L. Anderson, B. F. Gage, Y. D. Rosenberg, C. S. Eby, R. A. Madigan, R. B. McBane, S. Z. Abdel- Rahman, S. M. Stevens, S. Yale, E. R. Mohler, M. C. Fang, V. Shah, R. B. Horenstein, N. A. Limdi, J. A. S. Muldowney, J. Gujral, P. Delafontaine, R. J. Desnick, T. L. Ortel, H. H. Billett, R. C. Pendleton, N. L. Geller, J. L. Halperin, S. Z. Goldhaber, M. D. Caldwell, R. M. Califf, and J. H. Ellenberg. 2013. A pharmacogenetic versus a clinical algorithm for warfarin dosing. New England Journal of Medicine 369(24):2283–2293. Kohane, I. S., D. R. Masys, and R. B. Altman. 2006. The incidentalome: A threat to genomic medicine. Journal of the American Medical Association 296(2):212–215. Landrum, M. J., J. M. Lee, G. R. Riley, W. Jang, W. S. Rubinstein, D. M. Church, and D. R. Maglott. 2014. ClinVar: Public archive of relationships among sequence variation and human phenotype. Nucleic Acids Research 42(Database issue):D980–D985. Lyman, G. H., S. Temin, S. B. Edge, L. A. Newman, R. R. Turner, D. L. Weaver, A. B. Benson, 3rd, L. D. Bosserman, H. J. Burstein, H. Cody, 3rd, J. Hayman, C. L. Perkins, D. A. Podoloff, and A. E. Giuliano. 2014. Sentinel lymph node biopsy for patients with early-stage breast cancer: American Society of Clinical Oncology clinical practice guideline update. Journal of Clinical Oncology 32(13):1365–1383. McCormack, R. T., J. Armstrong, and D. Leonard. 2014. Codevelopment of genome-based therapeutics and companion diagnostics: Insights from an Institute of Medicine roundtable. Journal of the American Medical Association 311(14):1395–1396. NIH (National Institutes of Health). 2013. New NIH-funded resource focuses on use of genomic variants in medical care. http://www.nih.gov/news/health/sep 2013/nhgri-25.htm (accessed April 16, 2014). Parsons, D. W., M. M. Chintagumpala, S. L. Berg, D. H. López-Terrada, R. Angshumoy, R. A. Kerstein, S. Scollon, S. G. Hilsenbeck, U. Ramamurthy, C. M. Eng, Y. Yang, R. A. Gibbs, D. A. Wheeler, R. L. Street, L. B. McCullough, A. L. McGuire, F. A. Monzon, and S. E. Plon. 2013. Implementation and evaluation of clinical exome sequencing in childhood cancer care: The BASIC3 study. Journal of Clinical Oncology 31(suppl; abstr 10023). Pellegrini, I., M. Rapti, J. M. Extra, A. Petri-Cal, T. Apostolidis, J. M. Ferrero, T. Bachelot, P. Viens, C. Julian-Reynier, and F. Bertucci. 2012. Tailored chemotherapy based on tumour gene expression analysis: Breast cancer patients’ misinterpretations and positive attitudes. European Journal of Cancer Care 21(2):242–250.

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Rapid advances in technology have lowered the cost of sequencing an individual's genome from the several billion dollars that it cost a decade ago to just a few thousand dollars today and have correspondingly greatly expanded the use of genomic information in medicine. Because of the lack of evidence available for assessing variants, evaluation bodies have made only a few recommendations for the use of genetic tests in health care. For example, organizations, such as the Evaluation of Genomic Applications in Practice and Prevention working group, have sought to set standards for the kinds of evaluations needed to make population-level health decisions. However, due to insufficient evidence, it has been challenging to recommend the use of a genetic test. An additional challenge to using large-scale sequencing in the clinic is that it may uncover "secondary," or "incidental," findings - genetic variants that have been associated with a disease but that are not necessarily related to the conditions that led to the decision to use genomic testing. Furthermore, as more genetic variants are associated with diseases, new information becomes available about genomic tests performed previously, which raises issues about how and whether to return this information to physicians and patients and also about who is responsible for the information.

To help develop a better understanding of how genomic information is used for healthcare decision making, the Roundtable on Translating Genomic-Based Research for Health of the Institute of Medicine held a workshop in Washington,DC in February 2014. Stakeholders, including clinicians, researchers, patients, and government officials, discussed the issues related to the use of genomic information in medical practice. Assessing Genomic Sequencing Information for Health Care Decision Making is the summary of that workshop. This report compares and contrasts evidence evaluation processes for different clinical indications and discusses key challenges in the evidence evaluation process.

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