Indications for a Genetics Referral

There are many possible indications for a genetics evaluation.  The categorized indications below can help primary and specialty care providers, as well as individuals and families, to determine when a genetics evaluation could be beneficial.  Multiple types of genetics professionals, including Medical Geneticists (MDs) or Certified Genetic Counselors (CGCs), may provide genetics services.  To locate genetics providers in Wisconsin, please visit Locating Medical Genetics Providers.

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Prenatal and/or Preconceptional Indications

  • Advanced maternal age (>35 years at delivery)
  • Positive maternal serum marker screen
  • Teratogen exposure or maternal illness during pregnancy
  • Three or more miscarriages or stillbirths
  • Abnormalities on ultrasound
  • Previous child with birth defects, chromosomal abnormalities or genetic condition
  • Family history of birth defects, chromosomal abnormalities or genetic condition
  • Ethnic background associated with a genetic condition
  • Consanguinity (mother and father are blood relatives)
  • Known carrier status of one or both partners
  • Parental concerns

Pediatric Indications

  • Developmental delay or mental retardation
  • Dysmorphic features
  • Under or overgrowth
  • Failure to thrive
  • Seizure disorder of unknown cause
  • Hypotonia
  • Abnormal or ambiguous newborn screening results
  • Birth defect – either single or multiple
  • Ambiguous genitalia
  • Family history of genetic or chromosomal condition
  • Family history of childhood cancers
  • Parental concern

Cancer Indications

  • Cancer diagnosed less than age 50
  • Two or more primary cancers diagnosed in the same patient
  • Multiple family members affected by cancer
  • Certain rare cancers or tumors (e.g., medullary thyroid cancer; retinoblastoma; hepatoblastoma; male breast cancer; adrenocortical carcinoma; pheochromocytoma)
  • Known cancer gene mutation in family
  • 10 or more colorectal polyps of any histology

Adult Indications

  • Coronary artery disease under age 50 years
  • Infertility or multiple pregnancy losses
  • Premature ovarian failure
  • Unexplained or hereditary neurologic or neurodegenerative disorders
  • Cognitive impairment
  • Dysmorphic features
  • Connective tissue disorders (i.e. Marfan syndrome, Ehlers-Danlos syndrome, Loeys-Dietz syndrome, etc.)
  • Aneurysms or dilations of the vessels in the body (aortic aneurysm, abdominal dilatations, etc.)
  • Excessive bleeding or clotting
  • Early-onset or progressive hearing loss
  • A progressive eye disorder
  • Family history of genetic or chromosomal condition
  • Patient concerns

*Note: adult patients may be seen in most pediatric or cancer genetics clinics. Call the clinic to inquire if the indication is appropriate.

For more information, please read the following article:

Pletcher BA, Toriello HV, Noblin SJ, Seaver LH, Driscoll DA, Bennet RL, Gross SJ. Indications for genetic referral: A guide for healthcare providers. Genet Med. 2007 Jun;9(6): 385-9.