title: Genetics for the general internist.
abstract: The internist's goal is to determine a patient's disease risk and to implement preventative interventions. Genetic evaluation is a powerful risk assessment tool, and new interventions target previously untreatable genetic disorders. The purpose of this review is to educate the general internist about common genetic conditions affecting adult patients, with special emphasis on diagnoses with an effective intervention, including hereditary cancer syndromes and cardiovascular disorders. Basic tenets of genetic counseling, complex genetic disease, and management of adults with genetic diagnoses also are discussed.
authors.affiliation: Department of Medicine, University of Arizona, Tucson, 85724, USA.
authors.forename: Christina M
authors.initials: CM
authors.lastname: Laukaitis
mesh_terms: D004314:Down Syndrome / Q000503:physiopathology; D005817:Genetic Counseling; D005820:Genetic Testing / Q000639:trends*; D006801:Humans; D007388:Internal Medicine / Q000639:trends*; D009386:Neoplastic Syndromes, Hereditary
references.citation: JAMA. 2001 Nov 14;286(18):2251-6
references.pmid: 11710890
references.citation: Genet Test. 1997;1(1):41-6
references.pmid: 10464624
references.citation: Heart Rhythm. 2009 Aug;6(8 Suppl):S51-5
references.pmid: 19631908
references.citation: N Engl J Med. 2006 Jan 19;354(3):261-9
references.pmid: 16421367
references.citation: JAMA. 2004 Sep 15;292(11):1317-25
references.pmid: 15367553
references.citation: J Natl Cancer Inst. 2001 Nov 7;93(21):1633-7
references.pmid: 11698567
references.citation: J Clin Oncol. 2009 Jul 1;27(19):3235-58
references.pmid: 19470930
references.citation: Am J Hum Genet. 2008 Oct;83(4):435-44
references.pmid: 18940308
references.citation: Int J Cancer. 1995 Dec 20;64(6):430-3
references.pmid: 8550246
references.citation: Eur J Hum Genet. 2008 Apr;16(4):445-52
references.pmid: 18197196
references.citation: J Natl Cancer Inst. 1999 Sep 15;91(18):1541-8
references.pmid: 10491430
references.citation: J Clin Oncol. 2004 Mar 15;22(6):1055-62
references.pmid: 14981104
references.citation: JAMA. 2011 Jun 8;305(22):2295-303
references.pmid: 21642681
references.citation: J Med Genet. 2007 Jun;44(6):353-62
references.pmid: 17327285
references.citation: J Natl Cancer Inst. 1989 Dec 20;81(24):1879-86
references.pmid: 2593165
references.citation: Cancer. 1994 Feb 1;73(3):643-51
references.pmid: 8299086
references.citation: N Engl J Med. 2002 May 23;346(21):1616-22
references.pmid: 12023993
references.citation: J Natl Cancer Inst. 1999 Sep 1;91(17):1475-9
references.pmid: 10469748
references.citation: J Clin Oncol. 2008 Mar 10;26(8):1331-7
references.pmid: 18268356
references.citation: N Engl J Med. 1994 May 12;330(19):1335-41
references.pmid: 8152445
references.citation: J Clin Oncol. 2002 Mar 15;20(6):1480-90
references.pmid: 11896095
references.citation: Lancet. 2005 May 14-20;365(9472):1687-717
references.pmid: 15894097
references.citation: Genet Med. 2009 Jan;11(1):42-65
references.pmid: 19125127
references.citation: Am Fam Physician. 2001 Sep 15;64(6):1031-8
references.pmid: 11578024
references.citation: Am J Hum Genet. 1996 Jan;58(1):191-200
references.pmid: 8554056
references.citation: J Natl Cancer Inst. 2004 Feb 18;96(4):261-8
references.pmid: 14970275
references.citation: CA Cancer J Clin. 2007 Mar-Apr;57(2):75-89
references.pmid: 17392385
references.citation: Genome Res. 1996 Nov;6(11):1029-49
references.pmid: 8938427
references.citation: J Natl Cancer Inst. 2009 Jan 21;101(2):80-7
references.pmid: 19141781
references.citation: Am J Hum Genet. 2001 Oct;69(4):780-90
references.pmid: 11524701
references.citation: F1000 Biol Rep. 2010 Aug 09;2:59
references.pmid: 21173878
references.citation: J Med Genet. 2010 Jul;47(7):476-85
references.pmid: 20591885
references.citation: Am Heart J. 2007 Oct;154(4):624-31
references.pmid: 17892982
references.citation: BJOG. 2007 Dec;114(12):1500-9
references.pmid: 17903229
references.citation: Nature. 1995 Dec 21-28;378(6559):789-92
references.pmid: 8524414
references.citation: J Med Genet. 2001 Jul;38(7):461-6
references.pmid: 11474654
references.citation: N Engl J Med. 2001 Jul 19;345(3):159-64
references.pmid: 11463009
references.citation: J Clin Oncol. 2005 Oct 20;23(30):7491-6
references.pmid: 16234515
references.citation: J Med Genet. 2009 Sep;46(9):593-7
references.pmid: 18413372
references.citation: N Engl J Med. 2011 Jun 23;364(25):2381-91
references.pmid: 21639806
references.citation: J Clin Oncol. 2008 Dec 10;26(35):5783-8
references.pmid: 18809606
references.citation: Int J Cancer. 1999 Apr 12;81(2):214-8
references.pmid: 10188721
references.citation: J Clin Oncol. 2010 Feb 10;28(5):893-901
references.pmid: 20065170
references.citation: J Med Genet. 2007 Feb;44(2):81-8
references.pmid: 17105749
references.citation: Science. 2003 Oct 24;302(5645):643-6
references.pmid: 14576434
references.citation: Genet Med. 2011 Jan;13(1):67-76
references.pmid: 21150787
references.citation: J Clin Oncol. 2003 Jun 15;21(12):2397-406
references.pmid: 12692171
references.citation: N Engl J Med. 2008 Jun 26;358(26):2787-95
references.pmid: 18579813
references.citation: Proc Natl Acad Sci U S A. 2010 Jul 13;107(28):12629-33
references.pmid: 20616022