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 to determine when a genetics evaluation could be beneficial.  Multiple types of genetics professionals, including Medical Geneticists (MDs) or Certified Genetic Counselors (CGCs), or Advanced Practice Professionals with specialized training in genetics may provide genetics services.

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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, autism, intellectual disability or neurodevelopmental disorder
  • Developmental regression or loss of acquired skills
  • Dysmorphic features
  • Under or overgrowth
  • Failure to thrive
  • Seizure disorder of unknown cause
  • Hypotonia
  • Abnormal or ambiguous newborn screening results
  • Birth defect (single major anomalie or 3 or more minor anomalies)
  • 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
  • Known cancer gene mutation in family
  • 10 or more colorectal polyps of any histology
  • Hereditary cancer susceptibility syndromes, including but not limited to:
    • Birt-Hogg-Dube
    • Carney complex
    • Constitutional Mismatch Repair Deficiency
    • Cowden syndrome (aka PTEN Hamartoma Tumor syndrome)
    • Familial Adenomatous Polyposis and Attenuated Familial Adenomatous Polyposis
    • Familial Gastrointestinal Stromal Tumor
    • Familial Pancreatic Cancer
    • Familial Prostate Cancer
    • Hereditary Breast-Ovarian Cancer syndrome
    • Hereditary Diffuse Gastric Cancer
    • Hereditary Leiomyomatosis and Renal Cell Cancer
    • Hereditary Melanoma (aka Familial Atypical Mole and Malignant Melanoma)
    • Hereditary Mixed Polyposis syndrome
    • Hereditary Papillary RCC
    • Hereditary Paraganglioma-Pheochromocytoma syndrome
    • Hereditary Retinoblastoma
    • Juvenile Polyposis syndrome
    • Li-Fraumeni syndrome
    • Lynch syndrome
    • Melanoma-Astrocytoma syndrome
    • Multiple Endocrine Neoplasia type 1
    • Multiple Endocrine Neoplasia type II
    • MUTYH-associated Polyposis
    • Nevoid Basal Cell Carcinoma
    • Peutz-Jaghers syndrome
    • Rhabdoid Tumor Predisposition syndrome types I and II
    • Serrated Polyposis syndrome
    • Tuberous Sclerosis complex
    • Von Hippel-Lindau syndrome

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, Loeys-Dietz syndrome, Ehlers-Danlos syndrome etc.).  Note that Hypermobility type Ehlers-Danlos syndrome referrals may be denied by some genetics providers given a genetic cause has not yet been identified, even though one may exist.
  • Aneurysms or dilations of the vessels in the body (aortic aneurysm, abdominal dilatations, etc.)
  • Suspicion of hereditary cardiomyopathy or arrhythmia
  • Excessive bleeding or clotting
  • Early-onset or progressive hearing loss
  • Early-onset or progressive vision loss
  • 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.

What to Know Before You Refer

A genetic specialist can provide assistance through a variety of ways—a formal or informal consultation, a genetic counseling session, or a genetic evaluation. A genetic specialist can provide a more accurate assessment of the risk or confirm the diagnosis of a genetic disease. A diagnosis may be made primarily through genetic testing, or a combination of testing, clinical examination, and family history. Genetic specialists are able to provide management options or referrals to specialists as needed; provide advice to primary care practitioners about a genetic condition, prognosis, treatment and long-term outcome; and recommend educational materials to patients and families.

The referring professional should discuss expectations and possible outcomes of the genetic evaluation before making the referral. The referring professional should be aware of what is involved in such a consultation and the potential diagnostic yields and should share this information with the patient/family.  (Schafer et al, 2013 Gen in Med: 15 399-407)

Genetic Alliance; The New England Public Health Genetics Education Collaborative. Understanding Genetics: A New England Guide for Patients and Health Professionals. Washington (DC): Genetic Alliance; 2010 Feb 17. Chapter 6, Indications for a Genetic Referral. Available from: https://www.ncbi.nlm.nih.gov/books/NBK132173/

The Pediatric Genetics Evaluation: What to Expect

This is the second video in a four-part series entitled, “Improving Care for Developmental Disabilities & Dysmorphic Features”.  This American Board of Pediatrics approved MOC4 was created by the HRSA-funded Midwest Genetics Network (MGN) and its partners.

Key Points to Communicate to Parents/Family/Individual When Referring to Genetics

  • The referral is made to evaluate whether a genetic cause may exist for the presenting features.
    • There will likely be a long wait before receiving an appointment.
    • Most insurance plans allow coverage of genetic evaluation services. Many insurance plans allow coverage of genetic testing.  Prior authorization for genetic testing is sought PRIOR to collecting a sample.
  • If genetic testing is recommended,
    • Patient/family autonomy guides decisions to pursue genetic testing
    • Blood/saliva/buccal sample, likely will not be collected the day of the visit AND
    • Results can take 4-6 weeks to return AND
    • A genetic cause may not be identified, even though one may exist
  • If genetic testing yields a diagnosis,
    • Prognostic, management, and recurrence risk information may or may not be available
    • Long term care and management is achieved through partnership with the PCP (medical home), other specialist(s), family, and geneticist

Requirements for a Genetics Referral

The requirements for a referral will vary from system to system. In general a genetic referral requires the following information:

  • Patient information
  • Reason for the referral (accompanying medical documentation is valuable when triaging referrals)
  • A suspected diagnosis (if known)
  • Family history