A genetic specialist can provide assistance through a variety of ways—a formal or informal consultation, a genetic counseling session, or a genetic evaluation. A genetic specialist can provide a more accurate assessment of the risk or confirm the diagnosis of a genetic disease. A diagnosis may be made primarily through genetic testing, or a combination of testing, clinical examination, and family history. Genetic specialists are able to provide management options or referrals to specialists as needed; provide advice to primary care practitioners about a genetic condition, prognosis, treatment and long-term outcome; and recommend educational materials to patients and families.
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)
Genetic Alliance; The New England Public Health Genetics Education Collaborative. Understanding Genetics: A New England Guide for Patients and Health Professionals. Washington (DC): Genetic Alliance; 2010 Feb 17. Chapter 6, Indications for a Genetic Referral. Available from: https://www.ncbi.nlm.nih.gov/books/NBK132173/