This screening tool, developed by Katherine Medlin of Genzyme Genetics, provides care teams that don’t have genetic professionals a way to determine which patients require a referral to genetics. The questionnaire can be filled out by the patient or can be administered by a health professional.

The tool includes here a section on family history; those with an asterisk may require additional medical records and/or communication with a genetics professional prior to referral to genetics. Questions without an asterisk would warrant a direct referral to genetics. If the patient reports any significant family history or a significant exposure (infection, illness, medication etc.) during pregnancy, it may warrant a referral to a genetics professional.

It is important that you have a contact in the community with whom you can communicate regarding genetic questions and for genetic referrals.  If you do not have a contact, you can search for a genetic counselor in your area (state/city) through the National Society of Genetic Counselors website:  The genetic counselor may or may not be the individual who should evaluate you patient (depending on the diagnosis), but he/she will be able to guide to a genetics professional who can provide appropriate services.