Communicating with Families

doctor talking to her male patient at office

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

Key points to communicate to patients and families when making a genetic referral

If referring due to presenting features with a possible genetic cause:

  • 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.  Authorization for genetic testing is sought PRIOR to collecting a sample.

If genetic testing is recommended:

  • The decision to pursue genetic testing is up to the patient (or family if patient is a minor).
  • The blood/saliva/buccal sample may not be collected the day of the visit.
  • Results can take 4-6 weeks to return (2-8 weeks for prenatal and cancer testing).
  • 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 primary care provider (medical home), other specialist(s), family, and geneticist.