McLendon, R and et al. 2008. The Cancer Genome Atlas Research
Network. Comprehensive genomic characterization defines human
glioblastoma genes and core pathways. Nature 455, 1061–1068.
 Ley TJ, Mardis ER, Ding L, Fulton B, McLellan MD, Chen K, Dooling
D, Dunford-Shore BH, McGrath S, Hickenbotham M, Cook L, Abbott
R, Larson DE, Koboldt DC, Pohl C, Smith S, Hawkins A, Abbott S,
Locke D, Hillier LW, Miner T, Fulton L, Magrini V, Wylie T,
Glasscock J, Conyers J, Sander N, Shi X, Osborne JR, Minx P, Gordon
D, Chinwalla A, Zhao Y, Ries RE, Payton JE, Westervelt P, Tomasson
MH, Watson M, Baty J, Ivanovich J, Heath S, Shannon WD, Nagarajan
R, Walter MJ, Link DC, Graubert TA, DiPersio JF, Wilson RK. 2008.
DNA sequencing of a cytogenetically normal acute myeloid leukaemia
genome. Nature. 6;456(7218):66-72.
 Bignell GR, Greenman CD, Davies H, Butler AP, Edkins S, Andrews
JM, Buck G, Chen L, Beare D, Latimer C, Widaa S, Hinton J, Fahey C,
Fu B, Swamy S, Dalgliesh GL, Teh BT, Deloukas P, Yang F, Campbell
PJ, Futreal PA, Stratton MR. 2010. Signatures of mutation and selection
in the cancer genome. Nature. 18;463(7283):893-8.
 Meyerson, M., Gabriel, S. & Getz, G. 2010. Advances in understanding
cancer genomes through second-generation sequencing. Nature Rev.
Genet. 11, 685–696.
 Stankiewicz, P. & Lupski, J. R. 2010. Structural variation in the human
genome and its role in disease. Annu. Rev. Med. 61, 437–455.
 Pao W, Miller V, Zakowski M, Doherty J, Politi K, Sarkaria I, Singh B,
Heelan R, Rusch V, Fulton L, Mardis E, Kupfer D, Wilson R, Kris M,
Varmus H. 2004. EGF receptor gene mutations are common in lung
cancers from "never smokers" and are associated with sensitivity of
tumors to gefitinib and erlotinib. Proc Natl Acad Sci U S A.
 Cohen AL, Holmen SL, Colman H. 2013. IDH1 and IDH2 mutations in
gliomas. Curr Neurol Neurosci Rep. 13(5):345.
 Brooke BS, Habashi JP, Judge DP, Patel N, Loeys B, Dietz HC. 2008.
Angiotensin II blockade and aortic-root dilation in Marfan's syndrome.
N Engl J Med. 26;358(26):2787-95
 D’Hulst, C. & Kooy, R. F. 2009. Fragile X syndrome: frommolecular
genetics to therapy. J. Med. Genet. 46, 577–584.
 Frueh FW, Amur S, Mummaneni P, Epstein RS, Aubert RE, DeLuca
TM, Verbrugge RR, Burckart GJ, Lesko LJ. 2008. Pharmacogenomic
biomarker information in drug labels approved by the United States
Food and Drug Administration: prevalence of related drug use.
Pharmacotherapy 28, 992–998.
 Baars MJ, Henneman L, Ten Kate LP. 2005. Deficiency of knowledge
of genetics and genetic tests among general practitioners, gynecologists,
and pediatricians: a global problem. Genet Med. 7(9):605-10.
 Escher M, Sappino AP. 2000. Primary care physicians’ knowledge and
attitudes towards genetic testing for breast-ovarian cancer predisposition.
 Powell KP, Christianson CA, Cogswell WA, Dave G, Verma A,
Eubanks S, Henrich VC.2012. Educational needs of primary care
physicians regarding direct-to-consumer genetic testing. J Genet Couns.
 Schroy PC, Barrison AF, Ling BS, Wilson S, Geller AC. 2002. Family
history and colorectal cancer screening: a survey of physician
knowledge and practice patterns. Am J Gastroenterol 97:1031–1036.
 Offit, K. 2008. Genomic profiles for disease risk: predictive or
premature? Journal of the American Medical Association, 299 (11),
 Feero, W. G. 2008. Genetics of common disease: a primary care priority
aligned with a teachable moment? Genetics in Medicine, 10, 81–82.
 Emery J, Watson E, Rose P, Andermann A. 1999. A systematic review
of the literature exploring the role of primary care in genetic services.
Fam Pract 16:426–445.
 Fetters MD, Doukas DJ, Phan KL. 1999. Family physicians’
perspectives on genetics and the human genome project. Clin Genet.
 Haga, SB, Julianne M. O’Daniel, Genevieve M. Tindall, Rachel Mills,
Isaac M. Lipkus, and Robert Agans, 2012. Survey of Genetic Counselors
and Clinical Geneticists’ Use and Attitudes towards Pharmacogenetic
Testing. Clin Genet. 82(2): 115–120.
 Watson EK, Shickle D, Qureshi N, Emery J, Austoker J. 1999. The ‘new
genetics’ and primary care: GPs’ views on their role and their
educational needs. Fam Pract. 16:420–425.
 Freedman, AN. Wideroff, L. Olson,L Davis, W. Klabunde, C. Srinath, KP. Reeve, BB Croyle, RT and Ballard-Barbash, R. 2003. US
Physicians’ Attitudes Toward Genetic Testing for Cancer Susceptibility
American Journal of Medical Genetics 120A:63–71.
 Hunter A, Wright P, Cappelli M, Kasaboski A, Surh L. 1998. Physician
knowledge and attitudes towards molecular genetic (DNA) testing of
their patients. Clin Genet. 53:447–455.
 Zgheib NK, Arawi T, Mahfouz RA, Sabra R. 2011. Attitudes of health
care professionals toward pharmacogenetic testing. Mol Diagn Ther.
 Sikkens EH, de Walle HE, Reefhuis J, vanTintelen JP, van Essen AJ.
2002. Referral for genetic counseling after the birth of a child with a
congenital anomaly in the Northern Netherlands. Am J Med Genet.
 Aalfs CM, Smets EM, de Haes HC, Leschot NJ. 2003. Referral for
genetic counselling during pregnancy: limited alertness and awareness
about genetic risk factors among GPs. Fam Pract. 20:135–141.
 Shields AE, Burke W, Levy DE. 2008. Differential use of available
genetic tests among primary care physicians in the United States: results
of a national survey. Genet Med. 10(6):404-14.
 Mainous AG 3rd, Johnson SP, Chirina S, Baker R. 2013.Academic
family physicians’ perception of genetic testing and integration into
practice: a CERA study. Fam Med. 45(4):257-262.
 Harrold, LR., Field, TS., & Gurwitz, JH. 1999. Knowledge, Patterns of
Care, and Outcomes of Care for Generalists and Specialists. J Gen Intern
Med. 14(8): 499–511.
 Gikas, A. & Triantafillidis, JK. 2014. The role of primary care
physicians in early diagnosis and treatment of chronic gastrointestinal
diseases. Int J Gen Med. 7: 159–173.
 Pichert G, Dietrich D, Moosmann P, Zwahlen M, Stahel RA, Sappino
AP. 2003. Swiss primary care physicians' knowledge, attitudes and
perception towards genetic testing for hereditary breast cancer. Fam
 van den Akker-van Marle ME, Gurwitz D, Detmar SB, Enzing CM,
Hopkins MM, Gutierrez de Mesa E, Ibarreta D. 2006. Cost-effectiveness
of pharmacogenomics in clinical practice: a case study of thiopurine
methyltransferase genotyping in acute lymphoblastic leukemia in
Europe. Pharmacogenomics. 7(5):783-92.
 Thompson AJ, Newman WG, Elliott RA, Roberts SA, Tricker K, Payne
K. 2014. The cost-effectiveness of a pharmacogenetic test: a trial-based
evaluation of TPMT genotyping for azathioprine. Value Health.
 Hagaman JT, Kinder BW, Eckman MH. 2010. Thiopurine Smethyltransferase
(corrected) testing in idiopathic pulmonary fibrosis: a
pharmacogenetic cost-effectiveness analysis. Lung. 188(2):125-32.