A pilot study of a family history risk assessment tool for cardiovascular disease.
This study evaluated the effectiveness of using a family history questionnaire to ascertain patients and families at-risk for inherited cardiovascular disease. A questionnaire composed of 21 questions was developed based on the experience of a cardiovascular genetic counselor. This questionnaire was administered to 39 patients at a University-based cardiology practice reflecting general and specialized aspects of cardiovascular medicine. Using the number and degree of relatedness of relatives reported and limited age of onset information participants were ranked into three familial risk categories. Thirty-nine patients participated in this pilot study. Of the 39 patients, six Mendelian diseases were identified. All individuals surveyed in this study were found to be at high and/or moderate risk for at least one disease based on the family history questionnaire. Twenty-five out of 39 participants (64.1%) were found to be at high risk for at least one cardiovascular disease, and thirty-three out of 39 participants (84.6%) were found to be at moderate risk for at least one disease. A family history of arrhythmia disorders, hypertension, hyperlipidemia, coronary artery disease and diabetes were more likely to be associated with a personal history in family histories of both moderate and high risk. Family history questionnaires in cardiology clinics can be a cost-effective tool for identifying patients and families who are in the greatest need of genetic evaluation and genetic counseling services.
MacLeod
Heather M
HM
Department of Medicine, Section of Cardiology, The University of Chicago, 5841 S. Maryland, MC6088, Chicago, IL 60637, USA. hmacleod22000@yahoo.com
McNally
Elizabeth M
EM
D000368:Aged; D002318:Cardiovascular Diseases / Q000145:classification / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008487:Medical History Taking; D010865:Pilot Projects; D018570:Risk Assessment / Q000379:methods*; D011795:Surveys and Questionnaires
N Engl J Med. 2000 Feb 10;342(6):365-73
10666426
Prim Care. 2005 Dec;32(4):995-1010
16326224
Europace. 2001 Jul;3(3):169-76
11467456
Genet Med. 2003 Mar-Apr;5(2):84-91
12644777
Am J Obstet Gynecol. 2001 Nov;185(5):1032-4
11717627
Genet Med. 2006 Aug;8(8):491-501
16912580
Circulation. 2005 Jul 12;112(2):207-13
15998675
Diabetes Care. 1990 Jul;13(7):796-8
2387195
Genet Med. 2007 Jan;9(1):23-33
17224687
J Clin Oncol. 2002 Jan 15;20(2):528-37
11786583
Am J Med Genet. 1997 Aug 22;71(3):315-24
9268102
J Clin Oncol. 2006 Dec 1;24(34):5395-402
17088568
BMJ. 1993 Dec 11;307(6918):1528-30
8274922
J Mol Med (Berl). 2005 Jan;83(1):79-83
15551023
J Gen Intern Med. 2004 Mar;19(3):273-80
15009784
Ann Intern Med. 1993 Dec 15;119(12):1187-97
8239250
Circulation. 2007 Feb 6;115(5):e69-171
17194875
Am J Med Genet A. 2004 Dec 1;131(2):111-4
15487010
Circulation. 2004 Oct 12;110(15):2150-6
15466626
Am J Cardiol. 2001 Jan 15;87(2):129-35
11152826