Table 2.

Characteristics of Patients Who Benefit From Genetics Referral and Evaluation

Indication for ReferralGoals of Referral
Suspicion of an underlying genetic syndrome with multisystem involvement:Syndrome diagnosis, care coordination, and implementation of health supervision guidelines
 Intellectual or learning disability; autism; other cognitive impairment
 Dysmorphic features
 Short stature
 Features of connective tissue disease
 Any congenital anomaly
 Endocrine abnormalities
 Sensory deficits such as hearing loss or visual impairment
 Neurological deficits or psychiatric illness
 Unexplained medical conditions
Family history of heritable cardiac conditions, including congenital heart disease, cardiomyopathy, aortopathy, heritable arrhythmias, familial hyperlipidemia, and sudden cardiac deathGenetic evaluation, testing, diagnosis, counseling of patient and family
Isolated congenital heart disease highly associated with specific genetic conditions (eg, interrupted aortic arch, truncus arteriosus, supravalvular aortic stenosis)Genetic evaluation, testing, diagnosis, and counseling of patient and family
Patient or parent interested in discussing recurrence risk for offspring before pursuing pregnancyPreconception or prenatal genetic counseling regarding recurrence risk, options for preimplantation genetic diagnosis
Facilitation of genetic testing; pretest or posttest genetic counselingExplanation of possible outcomes of genetic testing
Discussion of GINA, other insurance issues
Provision of educational resources and anticipatory guidance after a positive genetic test result
  • GINA indicates the Genetic Information Nondiscrimination Act.