Genetics for the General Internist - 23/12/11
Requests for reprints should be addressed to Christina M. Laukaitis, MD, PhD, Department of Medicine, University of Arizona, PO Box 245036, 1501 N. Campbell Ave., Tucson, AZ 85724Abstract |
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.
Le texte complet de cet article est disponible en PDF.Keywords : Alzheimer disease, Breast/ovarian cancer syndrome, Down syndrome, Genetics, GINA, Hereditary nonpolyposis colorectal cancer syndrome, Long QT syndrome, Lynch syndrome, Marfan syndrome, Neurofibromatosis 1, Venous thromboembolism
Plan
| Funding: The author received support from the University of Arizona SPORE in GI Cancer (CA95060) and a Cancer Center Support Grant (CA023074). |
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| Conflict of Interest: None. |
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| Authorship: The author had full access to the data and wrote the manuscript. |
Vol 125 - N° 1
P. 7-13 - janvier 2012 Retour au numéro
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