What Will Happen at a Consult? 

The following descriptions apply to adult genetic consultations. Prenatal consults follow a slightly different format.  Please visit the prenatal genetic counseling area for more information.

Initial Visit (1-2 hours) 

We will review your history, perform a risk assessment, and discuss available testing and risk management options.

Review of Your Personal Medical History and Family History 

  • A genetic counselor will meet with you and discuss your main concerns and the questions that you would like to have answered during your visit.
  • Your counselor will obtain a thorough history of your health problems, risk factors, past screening practices, and current health.
  • Your counselor will ask you about the ages (not dates) and health status of your relatives, (including a minimum of three generations), and the ages at which they were diagnosed with the condition of interest. A family tree or pedigree will be drawn to show this information in a picture format.

Risk Assessment and Genetic Evaluation 

  • Your counselor will explain basic genetic principles, what is currently known about the role of heredity in the disease you are interested in, and available genetic testing options and procedures.
  • The medical geneticist and genetic counselor will discuss your individualized risk with you, and help you to explore your options. This includes:
    • Genetic Testing Recommendations
      If genetic testing is available and likely to be helpful, we will discuss the risks, benefits, and costs with you.  While it may be possible to obtain a blood sample for testing during your initial consultation, we always suggest that you take some time to consider your decision and discuss the issues with your family members. In addition, most insurance reimbursement requires pre-authorization for testing, and this can take some time.  In some cases, testing other relatives first and/or reviewing their medical records is necessary to clarify diagnoses. If you decide to pursue genetic testing, there will be at least 1-2 additional appointments. Is genetic testing right for you?
    • Surveillance Recommendations
      We will explain and discuss individualized disease screening methods and help you plan a course of action.
    • Prevention Recommendations
      We will discuss current prevention strategies and the latest scientific findings relevant to the disease of interest.
    • Coordination of care with your physicians
      We will provide your physicians with written or verbal recommendations for management of your risks, based on guidelines established by national experts.
    • Follow-up letters and telephone contact
      You will receive a detailed case summary letter reviewing your complete consultation including personal and family history, your individualized risk assessment, testing choices and outcomes, and screening and management recommendations. A copy of your family tree is included. We can also provide letters of support to help with insurance reimbursement, and “family information letters” for you to share with relatives, if appropriate.

Genetic Testing Visit (15-20 minutes) 

  • We will have you sign informed consent documents assuring that you understand what is involved in the testing.  
  • After obtaining informed consent, we will draw a 10 ml blood sample (one-to-two tubes of blood) and send it to the testing lab. Results generally take 4-6 weeks. Payment or preauthorization from your insurance carrier is usually required by the testing laboratories at the time of sample submission.
  • We will assist you with determining insurance coverage for genetic testing. We will also discuss Federal and State Laws that protect your privacy and insurance coverage. 

Results Disclosure Visit (30-60 minutes) 

  • Genetic testing results are only disclosed in person, during a separate visit. Genetic testing results are not always straightforward and a significant amount of interpretation is involved. The medical geneticist and genetic counselor will discuss your individualized risk with you, and help you to explore your options.

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