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