TY - JOUR AU - Newman-Toker, D. E. AU - Pronovost, P. J. PY - 2009 DA - 2009// TI - Diagnostic errors–the next frontier for patient safety JO - JAMA VL - 301 UR - https://doi.org/10.1001/jama.2009.249 DO - 10.1001/jama.2009.249 ID - Newman-Toker2009 ER - TY - JOUR AU - McKibben, L. J. AU - Boone, D. J. AU - Marchibroda, J. AU - Issa, A. M. PY - 2009 DA - 2009// TI - A novel Transformation Model for personalized medicine laboratory systems JO - Personalized Med VL - 7 UR - https://doi.org/10.2217/pme.09.66 DO - 10.2217/pme.09.66 ID - McKibben2009 ER - TY - JOUR AU - Haddow, J. E. AU - Palomaki, G. E. PY - 2011 DA - 2011// TI - An introduction to assessing genomic screening and diagnostic tests JO - Nutr Today VL - 46 UR - https://doi.org/10.1097/NT.0b013e3182261d7f DO - 10.1097/NT.0b013e3182261d7f ID - Haddow2011 ER - TY - CHAP AU - Burke, W. AU - Zimmern, R. PY - 2007 DA - 2007// TI - Moving beyond ACCE: an expanded framework for genetic test evaluation BT - Edited by United Kingdom Genetic Testing Network PB - Phg Foundation CY - Cambridge, Cambridgeshire UK ID - Burke2007 ER - TY - JOUR AU - Teutsch, S. M. AU - Bradley, L. A. AU - Palomaki, G. E. AU - Haddow, J. E. AU - Piper, M. AU - Calonge, N. AU - Dotson, W. D. AU - Douglas, M. P. AU - Berg, A. O. PY - 2009 DA - 2009// TI - The evaluation of genomic applications in practice and prevention (egapp) initiative: methods of the egapp working group JO - Genet Med VL - 11 UR - https://doi.org/10.1097/GIM.0b013e318184137c DO - 10.1097/GIM.0b013e318184137c ID - Teutsch2009 ER - TY - CHAP AU - Goodman, S. AU - Dickerson, K. AU - Wilson, R. PY - 2009 DA - 2009// TI - Gene Expression Profile Tests for Early Stage Breast Cancer BT - Johns Hopkins Center for Clinical Trials PB - Center for Medical Technology Policy CY - Baltimore, MD ID - Goodman2009 ER - TY - JOUR AU - Mattocks, C. J. AU - Morris, M. A. AU - Matthijs, G. AU - Swinnen, E. AU - Corveleyn, A. AU - Dequeker, E. AU - Muller, C. R. AU - Pratt, V. AU - Wallace, A. PY - 2010 DA - 2010// TI - A standardized framework for the validation and verification of clinical molecular genetic tests JO - Eur J Hum Genet VL - 18 UR - https://doi.org/10.1038/ejhg.2010.101 DO - 10.1038/ejhg.2010.101 ID - Mattocks2010 ER - TY - JOUR AU - Khoury, M. J. AU - Gwinn, M. AU - Yoon, P. W. AU - Dowling, N. AU - Moore, C. A. AU - Bradley, L. PY - 2007 DA - 2007// TI - The continuum of translation research in genomic medicine: how can we accelerate the appropriate integration of human genome discoveries into health care and disease prevention? JO - Genet Med VL - 9 UR - https://doi.org/10.1097/GIM.0b013e31815699d0 DO - 10.1097/GIM.0b013e31815699d0 ID - Khoury2007 ER - TY - JOUR AU - Agurs-Collins, T. AU - Khoury, M. J. AU - Simon-Morton, D. AU - Olster, D. H. AU - Harris, J. R. AU - Milner, J. A. PY - 2008 DA - 2008// TI - Public health genomics: translating obesity genomics research into population health benefits JO - Obesity VL - 16 UR - https://doi.org/10.1038/oby.2008.517 DO - 10.1038/oby.2008.517 ID - Agurs-Collins2008 ER - TY - JOUR AU - Rosenkotter, N. AU - Vondeling, H. AU - Blancquaert, I. AU - Mekel, O. C. AU - Kristensen, F. B. AU - Brand, A. PY - 2011 DA - 2011// TI - The contribution of health technology assessment, health needs assessment, and health impact assessment to the assessment and translation of technologies in the field of public health genomics JO - Public Health Genomics VL - 14 UR - https://doi.org/10.1159/000318317 DO - 10.1159/000318317 ID - Rosenkotter2011 ER - TY - JOUR AU - Khoury, M. J. AU - Coates, R. J. AU - Evans, J. P. PY - 2010 DA - 2010// TI - Evidence-based classification of recommendations on use of genomic tests in clinical practice: dealing with insufficient evidence JO - Genet Med VL - 12 UR - https://doi.org/10.1097/GIM.0b013e3181f9ad55 DO - 10.1097/GIM.0b013e3181f9ad55 ID - Khoury2010 ER - TY - JOUR AU - Andermann, A. AU - Blancquaert, I. AU - Dery, V. PY - 2010 DA - 2010// TI - Genetic screening: a conceptual framework for programmes and policy-making JO - J Health Serv Res Policy VL - 15 UR - https://doi.org/10.1258/jhsrp.2009.009084 DO - 10.1258/jhsrp.2009.009084 ID - Andermann2010 ER - TY - JOUR AU - Nedal, A. AU - Knight, S. J. AU - Modell, S. M. AU - Issa, A. M. PY - 2011 DA - 2011// TI - The genome-based knowledge management in cycles model: a complex adaptive systems framework for implementation of genomic applications JO - Personalized Med VL - 8 UR - https://doi.org/10.2217/pme.11.5 DO - 10.2217/pme.11.5 ID - Nedal2011 ER - TY - JOUR AU - Botkin, J. R. AU - Teutsch, S. M. AU - Kaye, C. I. AU - Hayes, M. AU - Haddow, J. E. AU - Bradley, L. A. AU - Szegda, K. AU - Dotson, W. D. PY - 2010 DA - 2010// TI - Outcomes of interest in evidence-based evaluations of genetic tests JO - Genet Med VL - 12 UR - https://doi.org/10.1097/GIM.0b013e3181cdde04 DO - 10.1097/GIM.0b013e3181cdde04 ID - Botkin2010 ER - TY - JOUR AU - Rousseau, F. AU - Lindsay, C. AU - Charland, M. AU - Labelle, Y. AU - Bergeron, J. AU - Blancquaert, I. AU - Delage, R. AU - Gilfix, B. AU - Miron, M. AU - Mitchell, G. A. AU - Oligny, L. AU - Pazzagli, M. AU - Mamotte, C. AU - Payne, D. PY - 2010 DA - 2010// TI - Development and description of GETT: a genetic testing evidence tracking tool JO - Clin Chem Lab Med VL - 48 UR - https://doi.org/10.1515/CCLM.2010.291 DO - 10.1515/CCLM.2010.291 ID - Rousseau2010 ER - TY - BOOK AU - Sun, F. AU - Bruening, W. AU - Erinoff, E. AU - Schoelles, K. M. PY - 2011 DA - 2011// TI - Addressing challenges in genetic test evaluation: evaluation frameworks and assessment of analytic validity. No. 11-EHC048-EF edition PB - Agency for Healthcare Research and Quality CY - Rockville ID - Sun2011 ER - TY - JOUR AU - Sanderson, S. AU - Zimmern, R. AU - Kroese, M. AU - Higgins, J. AU - Patch, C. AU - Emery, J. PY - 2005 DA - 2005// TI - How can the evaluation of genetic tests be enhanced? lessons learned from the ACCE framework and evaluating genetic tests in the United Kingdom JO - Genet Med VL - 7 UR - https://doi.org/10.1097/01.gim.0000179941.44494.73 DO - 10.1097/01.gim.0000179941.44494.73 ID - Sanderson2005 ER - TY - JOUR AU - Hornberger, J. AU - Doberne, J. AU - Chien, R. PY - 2012 DA - 2012// TI - Laboratory-Developed Test-SynFRAME: an approach for assessing laboratory-developed tests synthesized from prior appraisal frameworks JO - Genet Test Mol Biomarkers VL - 16 UR - https://doi.org/10.1089/gtmb.2011.0177 DO - 10.1089/gtmb.2011.0177 ID - Hornberger2012 ER - TY - JOUR AU - Lijmer, J. G. AU - Leeflang, M. AU - Bossuyt, P. M. PY - 2009 DA - 2009// TI - Proposals for a phased evaluation of medical tests JO - Med Decis Making VL - 29 UR - https://doi.org/10.1177/0272989X09336144 DO - 10.1177/0272989X09336144 ID - Lijmer2009 ER - TY - BOOK PY - 2012 DA - 2012// TI - Glossary of Clinical Trials Terms PB - National Institutes of Health CY - U.S. ID - ref20 ER - TY - BOOK AU - Hindorff, L. AU - MacArthur, J. AU - Wise, A. AU - Junkins, H. AU - Hall, P. AU - Klemm, A. AU - Manolio, T. PY - 2011 DA - 2011// TI - A catalog of published genome-wide association studies ID - Hindorff2011 ER - TY - JOUR AU - Farrell, P. M. AU - Rosenstein, B. J. AU - White, T. B. AU - Accurso, F. J. AU - Castellani, C. AU - Cutting, G. R. AU - Durie, P. R. AU - Legrys, V. A. AU - Massie, J. AU - Parad, R. B. AU - Rock, M. J. AU - Campbell, P. W. PY - 2008 DA - 2008// TI - Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report JO - J Pediatr VL - 153 UR - https://doi.org/10.1016/j.jpeds.2008.05.005 DO - 10.1016/j.jpeds.2008.05.005 ID - Farrell2008 ER - TY - JOUR AU - Glasziou, P. AU - Irwig, L. AU - Deeks, J. J. PY - 2008 DA - 2008// TI - When should a new test become the current reference standard? JO - Ann Intern Med VL - 149 UR - https://doi.org/10.7326/0003-4819-149-11-200812020-00009 DO - 10.7326/0003-4819-149-11-200812020-00009 ID - Glasziou2008 ER - TY - BOOK PY - 2011 DA - 2011// TI - CYP2D6 Pharmacogenomics of Tamoxifen Treatment PB - BlueCross BlueShield CY - Chicago, IL ID - ref24 ER - TY - BOOK AU - Lin, J. AU - Webber, E. AU - Beil, T. AU - Goddard, K. AU - Whitlock, E. PY - 2011 DA - 2011// TI - Comparative Effectiveness Review: Fecal DNA Testing in Screening for Colorectal Cancer in Average Risk Adults [In Press] PB - Quality CY - Rockville ID - Lin2011 ER - TY - JOUR PY - 2008 DA - 2008// TI - U.S. Preventive Services Task Force recommendation statement JO - Ann Intern Med VL - 149 UR - https://doi.org/10.7326/0003-4819-149-9-200811040-00243 DO - 10.7326/0003-4819-149-9-200811040-00243 ID - ref26 ER - TY - JOUR AU - Rex, D. K. AU - Johnson, D. A. AU - Anderson, J. C. AU - Schoenfeld, P. S. AU - Burke, C. A. AU - Inadomi, J. M. PY - 2009 DA - 2009// TI - American College of Gastroenterology guidelines for colorectal cancer screening 2009 JO - Am J Gastroenterol VL - 104 UR - https://doi.org/10.1038/ajg.2009.104 DO - 10.1038/ajg.2009.104 ID - Rex2009 ER - TY - JOUR AU - Lijmer, J. G. AU - Mol, B. W. AU - Heisterkamp, S. AU - Bonsel, G. J. AU - Prins, M. H. AU - van der Meulen, J. H. AU - Bossuyt, P. M. PY - 1999 DA - 1999// TI - Empirical evidence of design-related bias in studies of diagnostic tests JO - JAMA VL - 282 UR - https://doi.org/10.1001/jama.282.11.1061 DO - 10.1001/jama.282.11.1061 ID - Lijmer1999 ER - TY - BOOK AU - Atkins, D. AU - Chang, S. AU - Gartlehner, G. AU - Buckley, D. AU - Whitlock, E. AU - Berliner, E. PY - 2011 DA - 2011// TI - Assessing the Applicability of Studies When Comparing Medical Interventions. AHRQ Publication No. 11-EHC019-EF edition ID - Atkins2011 ER - TY - JOUR AU - Bermejo-Perez, M. J. AU - Marquez-Calderon, S. AU - Llanos-Mendez, A. PY - 2007 DA - 2007// TI - Effectiveness of preventive interventions in BRCA1/2 gene mutation carriers: a systematic review JO - Int J Cancer VL - 121 UR - https://doi.org/10.1002/ijc.22817 DO - 10.1002/ijc.22817 ID - Bermejo-Perez2007 ER - TY - JOUR PY - 2011 DA - 2011// TI - Routine testing for Factor V Leiden (R506Q) and prothrombin (20210 G>A) mutations in adults with a history of idiopathic venous thromboembolism and their adult family members JO - Genet Med VL - 13 ID - ref31 ER - TY - JOUR AU - Wacholder, S. AU - Hartge, P. AU - Prentice, R. AU - Garcia-Closas, M. AU - Feigelson, H. S. AU - Diver, W. R. AU - Thun, M. J. AU - Cox, D. G. AU - Hankinson, S. E. AU - Kraft, P. AU - Rosner, B. AU - Berg, C. D. AU - Brinton, L. A. AU - Lissowska, J. AU - Sherman, M. E. AU - Chlebowski, R. AU - Kooperberg, C. AU - Jackson, R. D. AU - Buckman, D. W. AU - Hui, P. AU - Pfeiffer, R. AU - Jacobs, K. B. AU - Thomas, G. D. AU - Hoover, R. N. AU - Gail, M. H. AU - Chanock, S. J. AU - Hunter, D. J. PY - 2010 DA - 2010// TI - Performance of common genetic variants in breast-cancer risk models JO - N Engl J Med VL - 362 UR - https://doi.org/10.1056/NEJMoa0907727 DO - 10.1056/NEJMoa0907727 ID - Wacholder2010 ER - TY - JOUR AU - Janssens, A. C. AU - Gwinn, M. AU - Valdez, R. AU - Narayan, K. M. AU - Khoury, M. J. PY - 2006 DA - 2006// TI - Predictive genetic testing for type 2 diabetes JO - BMJ VL - 333 UR - https://doi.org/10.1136/bmj.38953.598947.80 DO - 10.1136/bmj.38953.598947.80 ID - Janssens2006 ER - TY - JOUR AU - Palomaki, G. E. AU - Melillo, S. AU - Neveux, L. AU - Douglas, M. P. AU - Dotson, W. D. AU - Janssens, A. C. AU - Balkite, E. A. AU - Bradley, L. A. PY - 2010 DA - 2010// TI - Use of genomic profiling to assess risk for cardiovascular disease and identify individualized prevention strategies–a targeted evidence-based review JO - Genet Med VL - 12 UR - https://doi.org/10.1097/GIM.0b013e3181f8728d DO - 10.1097/GIM.0b013e3181f8728d ID - Palomaki2010 ER - TY - JOUR AU - Scheffer, P. G. AU - van der Schoot, C. E. AU - Page-Christiaens, G. C. AU - Bossers, B. AU - van Erp, F. AU - de Haas, M. PY - 2010 DA - 2010// TI - Reliability of fetal sex determination using maternal plasma JO - Obstet Gynecol VL - 115 UR - https://doi.org/10.1097/AOG.0b013e3181c3c938 DO - 10.1097/AOG.0b013e3181c3c938 ID - Scheffer2010 ER - TY - STD TI - Summaries for patients. Comparing the benefits and costs of testing for genetic causes of colon cancer. Ann Intern Med. 2011, 155: I36- ID - ref36 ER - TY - JOUR AU - Mvundura, M. AU - Grosse, S. D. AU - Hampel, H. AU - Palomaki, G. E. PY - 2010 DA - 2010// TI - The cost-effectiveness of genetic testing strategies for Lynch syndrome among newly diagnosed patients with colorectal cancer JO - Genet Med VL - 12 UR - https://doi.org/10.1097/GIM.0b013e3181cd666c DO - 10.1097/GIM.0b013e3181cd666c ID - Mvundura2010 ER - TY - JOUR AU - Dinh, T. A. AU - Rosner, B. I. AU - Atwood, J. C. AU - Boland, C. R. AU - Syngal, S. AU - Vasen, H. F. AU - Gruber, S. B. AU - Burt, R. W. PY - 2011 DA - 2011// TI - Health benefits and cost-effectiveness of primary genetic screening for Lynch syndrome in the general population JO - Cancer Prev Res VL - 4 UR - https://doi.org/10.1158/1940-6207.CAPR-10-0262 DO - 10.1158/1940-6207.CAPR-10-0262 ID - Dinh2011 ER - TY - JOUR PY - 2009 DA - 2009// TI - genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives JO - Genet Med VL - 11 UR - https://doi.org/10.1097/GIM.0b013e31818fa2ff DO - 10.1097/GIM.0b013e31818fa2ff ID - ref39 ER - TY - JOUR AU - Smith, R. A. AU - Cokkinides, V. AU - Brooks, D. AU - Saslow, D. AU - Brawley, O. W. PY - 2010 DA - 2010// TI - Cancer screening in the United States, 2010: a review of current American Cancer Society guidelines and issues in cancer screening JO - CA Cancer J Clin VL - 60 UR - https://doi.org/10.3322/caac.20063 DO - 10.3322/caac.20063 ID - Smith2010 ER - TY - JOUR AU - Narod, S. A. PY - 2010 DA - 2010// TI - BRCA mutations in the management of breast cancer: the state of the art JO - Nat Rev Clin Oncol VL - 7 UR - https://doi.org/10.1038/nrclinonc.2010.166 DO - 10.1038/nrclinonc.2010.166 ID - Narod2010 ER - TY - BOOK PY - 2012 DA - 2012// TI - Overview of IVD Regulation PB - Food and Drug Administration CY - US ID - ref42 ER - TY - BOOK PY - 2003 DA - 2003// TI - Genes direct: Ensuring the effective oversight of genetic tests supplied directly to the public PB - Department of Health CY - London ID - ref43 ER - TY - BOOK PY - 2007 DA - 2007// TI - Human Genetics Commission response to the Medicines and Healthcare products Regulatory Agency's Consultation on the "Challenges and priorities for the next five years" ID - ref44 ER - TY - BOOK AU - Shuren, J. PY - 2010 DA - 2010// TI - Direct-to-Consumer Genetic Testing and the Consequences to the Public PB - U.S. Food and Drug Administration CY - Silver Spring, MD ID - Shuren2010 ER - TY - BOOK PY - 2000 DA - 2000// TI - Enhancing the Oversight of Genetic Tests: Recommendations of the SACGT PB - NIH CY - Bethesda ID - ref46 ER - TY - STD TI - The pre-publication history for this paper can be accessed here:http://www.biomedcentral.com/1472-6947/12/117/prepub UR - http://www.biomedcentral.com/1472-6947/12/117/prepub ID - ref47 ER -