What is a genetics evaluation?
A genetics evaluation is intended to provide a family and primary care provider with the diagnostic information necessary to ensure proper medical management of an affected individual and to communicate genetic risks to a family when appropriate. Genetic counseling may be offered as part of or in addition to a genetics evaluation.
Patients and families meet with either a geneticist (a medical doctor who has expert training in genetics), a genetic counselor (a health care provider with specialized genetics education), or both, and each of these providers is qualified to diagnose, manage and treat genetic conditions.
In a typical session, medical and family histories are reviewed in detail and a physical exam is conducted. Patients can expect to receive information about the suspected or diagnosed genetic condition or disorder. Sessions generally take 45 to 60 minutes, and patients are welcome to bring other family members if they wish. A letter summarizing what was discussed is sent to patients after the appointment.
Information from a patient’s family tree, including ethnicity (some genetic conditions occur more frequently in individuals with specific ethnic backgrounds), can be just as important as information from a genetic test and may help in making a diagnosis. Family history is often recorded as a family tree or a pedigree. This allows for an illustrative representation of family relationships and those family members affected by medical conditions.
A family history may provide the following information:
- Reveal patterns of inheritance
- Reveal the strength of the genetic component in a family by highlighting the number of people affected by a particular condition
- Help make or refine a diagnosis
- Help assess the likelihood of genetic disease in relatives
- Affect testing, treatment and management strategies
- Highlight the need for referral to a specialist
In some cases, additional studies, such as X-ray, ultrasound, MRI, or genetic testing may be recommended to gather more information or to confirm a diagnosis. Sometimes patients are referred to other specialists, such as a cardiologist (a heart doctor), neurologist (brain doctor) or ophthalmologist (eye doctor).
Usually, a genetics consultation is covered by medical insurance. However, prior to an appointment it is important that patients ask their insurance carriers about specific coverage.
In many ways, this appointment is similar to a visit with any health care provider. When patients come prepared with answers to questions that will be asked regarding family history it is extremely helpful for both the patient and the provider. Before your appointment, gather detailed family history and health information about your relatives, concentrating on any diseases, age of diagnosis, and age and cause of death.