Prior to the counseling session, a brief medical and family history are collected. This may be done over the telephone or through a questionnaire. At the time of the session, the counselor takes a detailed medical and family history, reviews the principles of both general and cancer genetics, provides the patient with a personal risk assessment, and discusses available options for surveillance and management. If appropriate and the patient is interested, the implications of genetic testing are discussed. The ethical, legal, and psychosocial aspects of familial cancer risk are also addressed.
All patients receive a detailed letter reviewing the counseling and other information presented.
Infants or children with a suspected genetic disease are usually referred by their pediatrician to a pediatric geneticist. Medical records, including laboratory tests, xrays, and growth charts, are often collected and reviewed prior to the evaluation. A detailed family and medical history will be obtained, which may also include developmental history. The child will be examined by the pediatric geneticist, who will decide what further testing if any, is appropriate. If a definitive diagnosis is made, the family will receive thorough genetic counseling and education, psychological support, and information regarding national and community resources.