Who Should see a geneticist?
The science of human genetics is rapidly evolving and new genetic causes for diseases are discovered almost on a daily basis. We now know that pathogenic (or damaging) variants in our DNA either directly cause disease or at least play a role in the pathogenesis of many disorders.
Genetics is becoming an integral part of any medical subspecialty and novel treatment approached such as gene therapy are explored in many areas of medicine.
It can be difficult to keep track of these rapid developments. We therefore want to give some guidance on which patients may benefit from a genetic evaluation.
This list is meant to be a guide but is by no means comprehensive. If you are not sure whether to refer a patient or if you have additional questions, please contact us any time!
referRal Guide:
General Genetics - Pediatric
- Birth defects
- Developmental delay
- Autism spectrum disorder
- Seizures
- Congenital heart defects
- Recurrent infections
- Short stature, skeletal dysplasia
- Hearing and/or vision loss
- Café au lait spots
- Family history of a genetic condition
General Genetics - Adult
- Early onset neurologic diseases (stroke, dementia, Parkinson’s)
- Myopathy, muscular dystrophy
- Retinal diseases
- Excessive bleeding or clotting
- Pulmonary diseases: idiopathic pulmonary fibrosis, pulmonary arterial hypertension
- Renal diseases: Chronic renal failure, polycystic kidney disease, kidney stones
- Liver diseases: Wilson’s disease, hemochromatosis, alpha-1-antitrypsin deficiency, liver disease of unclear cause
- Maturity-onset diabetes of the young (MODY)
- Family history of a genetic condition
Cardiovascular Genetics
Cardiovascular Genetics
- Hypertrophic cardiomyopathy
- Dilated cardiomyopathy
- Thoracic aortic aneurysm or unusual history of aortic aneurysms
- Cardiac arrhythmias
- History of cardiac arrest
- Family history of sudden cardiac death
- Severe hyperlipidemia or familial hyperlipidemia
- Connective tissue disorders (Marfan syndrome, Ehlers-Danlos syndrome)
Cancer Genetics
Prenatal Genetics
Cardiovascular Genetics
- Cancer at a young age (<50 y)
- Ovarian, fallopian tube, or primary peritoneal cancer
- Exocrine pancreatic cancer
- Metastatic or intraductal prostate cancer
- Multiple primary cancers in a single individual
- Bilateral or multifocal cancers (e.g. bilateral breast cancer)
- Same type of cancer in close relatives (same side of a family)
- Multiple generations on the same side of a family with related cancers
- Rare tumors (e.g. retino-blastoma, adrenocortical carcinoma)
- Unusual cancer presentation (e.g. male breast cancer)
- Uncommon tumor histology (e.g. medullary thyroid cancer)
- Rare cancers known to be associated with genetic syndromes (e.g. Wilms tumor)
- Family history of a known mutation in a cancer predisposition gene
- Individuals of Ashkenazi Jewish ethnicity, since known to be at increased risk for cancer predisposition syndromes
Prenatal Genetics
Prenatal Genetics
Prenatal Genetics
- Carrier screening for couples planning a pregnancy
- Couples in which one or both partners have Ashkenazi Jewish background (increased risk of being a carrier for inherited disorders)
- Consanguineous (related) couples
- Couples with two or more miscarriages, a stillborn child or a baby that passed away shortly after birth
- Couples who are being evaluated for infertility
- Couples undergoing IVF
- Pregnant women older than 35
- Pregnant women of any age who want to learn about the risk of a genetic abnormality in their fetus
- Pregnant women with abnormal fetal ultrasound findings