Genetics Evaluation and Counseling
A genetics evaluation provides families and primary care providers with the diagnostic information necessary to ensure proper medical management of an affected individual and to communicate genetic risks to families when appropriate.
You may be offered genetic counseling as part of or in addition to a genetics evaluation.
The essential parts of a genetic clinical evaluation include:
- Medical history.
- Family history.
- Dysmorphology examination.
- Literature review.
- Diagnostic testing (if appropriate).
Frequently Asked Questions
Know what to expect in advance of your appointment.
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. Each of these providers is qualified to diagnose, manage and treat genetic conditions.
Both geneticists and genetic counselors are qualified to offer advice on recurrence risks and future family implications. This information can help parents and caregivers understand what may have caused a genetic disorder. Genetic counselors often help to identify resources in collaboration with school systems, assist with treatment plans, navigate insurance coverage and coordinate referrals to other agencies and support groups associated with a specific diagnosis.
It generally take 45 to 60 minutes to complete a genetics evaluation.
Other family members are welcome to join you at the appointment if they want, but it is not required.
In a typical session, the provider will ask you details about your medical and family histories and in most cases will provide a physical exam. If a genetic condition or disorder is suspected or was diagnosed with previous genetic testing, you would likely receive information about that. A letter summarizing what was discussed is sent to patients after the evaluation or counseling 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, other tests may be recommended to know more information or to confirm a diagnosis, including:
- Genetic testing.
- MRI.
- Ultrasound.
- X-ray.
Sometimes patients are referred to other specialists, including:
- Cardiologist (a heart doctor).
- Neurologist (brain doctor).
- Ophthalmologist (eye doctor).
These specialty providers may facilitate the additional testing to confirm a diagnosis or help with the medical management of a diagnosed condition.
Usually, a genetics consultation is a covered benefit by medical insurance. However, before your appointment it is important that you ask your insurance company about specific coverage.
In many ways, this appointment is similar to a visit with any health care provider. Evaluation appointments are most successful when patients come prepared with answers to questions that will be asked regarding personal and family history.
Before your appointment, gather family history and health information about your relatives, focusing on these details:
- Diseases.
- Age of diagnosis.
- Age and cause of death.