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.