Genetic red flags: clues to thinking genetically in primary care practice.
This article presents an approach to "thinking genetically" in primary care. Busy practitioners often lack the time to consider thoroughly whether their patients have an underlying genetic diagnosis. To assist the primary care clinician, a working group of the Genetics in Primary Care Faculty Development Initiative developed a simple mnemonic, Family GENES, that alerts the clinician to consider genetic causes in the differential diagnosis. In addition to family history, the red flags include Groups of anomalies, Early or Extreme presentations of common diseases, Neurodevelopmental or Neurodegenerative conditions, Exceptional or unusual pathology, and Surprising laboratory values. This article discusses the components of the mnemonic, provides examples, and gives guidelines to appropriate actions once the possibility of a genetic diagnosis has been raised.
Whelan
Alison J
AJ
Department of Medicine and Pediatrics, Washington University School of Medicine, Campus Box 8073, 660 South Euclid Avenue, St. Louis, MO 63110, USA. whelana@wustl.edu
Ball
Susie
S
Best
Lyle
L
Best
Robert G
RG
Echiverri
Susan C
SC
Ganschow
Pamela
P
Hopkin
Robert J
RJ
Mayefsky
Jay
J
Stallworth
James
J
D000013:Congenital Abnormalities / Q000175:diagnosis* / Q000503:physiopathology; D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000503:physiopathology; D020022:Genetic Predisposition to Disease; D005826:Genetics, Medical / Q000379:methods*; D006801:Humans; D007255:Information Services; D020407:Internet; D011320:Primary Health Care