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