Red flags indicate to healthcare providers that their patient (or their patient’s family) may be at increased risk for a genetic condition.  The best way to identify red flags is by taking a family history (in addition to a personal health history).

Download the quick reference Red flags point of care tool.

Find a family history taking tool here.

 

Red Flags

Multiple affected family members may

• Indicate they have the same or a related disorder
  • e.g. family history of endometrial and colon cancer (Lynch syndrome)
• Illustrate both shared genetics and environmental risk factors
• Demonstrate pattern of inheritance (recessive, dominant, X-linked)

Earlier age of onset of disease (or symptom) than typically expected

• May demonstrate genetic predisposition in an individual who is more susceptible to environmental risk factors
  • e.g. pre-menopausal breast cancer (BRCA1 or BRCA2 mutation);  premature ovarian failure before age 40 (fragile X syndrome carrier) 

Disease occurring in an individual of the less commonly affected sex

• e.g. breast cancer in a male

Presence of disease in the absence of other precipitating factors

• e.g. sudden unexplained death in an athletic 20-year-old (hypertrophic cardiomyopathy); diabetes mellitus (hereditary hemochromatosis or myotonic dystrophy)

Ethnicity

• Some genetic disorders are more common in certain ethnic groups
  • e.g. Tay-Sachs disease, Gaucher disease, Familial dysautonomia, Canavan disease  in Ashkenazi Jewish individuals;  Hemoglobinopathies (thalassemia, sickle cell anemia) in individuals of Mediterranean, African, Middle Eastern and South East Asian ancestry

Consanguinity

• Generally defined as a union between two individuals related as second cousins or closer
• The incidence of congenital anomalies in the offspring of first cousins has been estimated to be 1.7–2.8% higher than the background population risk (which is 2-3%), mostly attributable to autosomal recessive diseases.

History of congenital anomalies (e.g. heart defect, imperforate anus), still birth, childhood death, infertility, more than three unexplained miscarriages

• May be suggestive of underlying genetic etiology such as a single gene disorder or a familial chromosome re-arrangement

References

GenetiKit project resources

NCHPEG (National Coalition for Health Professional Education in Genetics) for products and programs

–

GEC-KO aims to aid the practicing non-genetics health professional by providing informed opinions regarding genetic/genomic conditions, services and technologies that have been developed in a rigorous and evidence-based manner with periodic updating.  The content on the GEC-KO site is for educational purposes only.  No resource should be used as a substitute for clinical judgement.  GEC-KO assumes no responsibility or liability resulting from the use of information contained herein.

External links are selected and reviewed at the time a page is published. However, GEC-KO is not responsible for the content of external websites. The inclusion of a link to an external website from GEC-KO should not be understood to be an endorsement of that website or the site’s owners (or their products/services).