Personalized Genetic Consultations
A genetic consultation can benefit many different individuals including people with…
- a diagnosis of a hereditary condition or a hereditary condition in the family
- a personal and/or family history of cancer
- a personal and/or family history of a neurologic condition (e.g., Alzheimer’s, Parkinson’s, Charcot-Marie-Tooth)
- a personal and/or family history of a cardiac disease (e.g., long QT or Brugada syndrome, dilated or hypertrophic cardiomyopathy)
- a history of not responding to certain medications or need dosing for specific types of medications
- a genetic test who need additional assistance in interpreting the meaning of the results
What is Involved in a Genetic Consultation/Genetic Counseling?
During the genetic counseling process, a detailed medical and family history will be taken to provide a personalized assessment of your risk factors. Once a risk assessment is performed, it will be determine whether you are a candidate for genetic testing. If you are, a discussion will ensue of the risks, benefits and limitations of genetic testing as well as a review of your insurance company’s coverage criteria. We will assist with insurance authorization for genetic testing, if needed. Importantly, not everyone who comes in for a genetic consultation will be a candidate for genetic testing. In some instances, it may be more informative to test a close blood relative rather than yourself.
We will also review how the genetic test results may impact medical management recommendations for you and your family members. If you decide to pursue genetic testing, we will provide personalized post-test result interpretation and again discuss medical management options. Lastly, we will send a letter to you and your healthcare providers informing them of all this information, if you so desire.
If you have already had genetic testing and need assistance with interpretation, we will provide all of the services outlined above, except for the testing. However, in some situations, we may recommend a second, more targeted genetic test to confirm your test results.
How is Genetic Testing Performed?
Most genetic tests can be performed on a specimen collected from saliva. If you wish to undergo genetic testing, a saliva specimen will be collected at the appointment and sent to an outside laboratory for analysis. Ideally, it is best to refrain from eating any food, gum or candy for at least 30 minutes before the collection; this ensures an adequate amount of cells can be obtained for testing. If a blood specimen is required for a specific test, we will work with the outside laboratory to schedule a blood draw in the comfort of your own home. When the specimen gets to the laboratory, the lab will extract your DNA from your cells and perform DNA sequencing to read the genetic code. If any errors are identified in the genetic code (called mutations), this may be an indication of a predisposition to the disease or condition being evaluated. On average, it takes about 2-3 weeks for the test results to come back.
What Should I Bring to My Appointment?
If you have a personal history of a specific condition or cancer, ideally, being able to review any medical records like pathology reports, consultation notes specific to the diagnosis from your physicians or any test results will help with the evaluation. If you or a family member have had genetic testing, it is a requirement for you to bring these results to the appointment; without them, we will not be able to provide an accurate assessment of your risk and/or order genetic testing, if indicated.
How to Get Started
If you would like more information about our services or if you are ready to schedule an appointment, please call (888) 725-GENE (4363) or you can Request an Appointment. Appointments can be in person or virtually through your home computer.