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. Prior 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.
- 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.