Genomic Medicine Institute - Center for Personalized Genetic Healthcare
 
 

Q&A with Amy Shealy, MS, LGC

Genetic Counselor for the Center for Personalized Genetic Healthcare (CPGH)
Genomic Medicine Institute

Amy earned her Master’s Degree in Genetic Counseling from the University of South Carolina School of Medicine. She is Board Certified and licensed to practice genetic counseling. In addition to seeing patients in prenatal and general genetics clinics, she also is the genetic counselor for the Cleveland Clinic’s Comprehensive Huntington Disease Clinic and patients with Lysosomal Storage Disorders.


Q1: What process does a patient go through to see you at CPGH for genetic counseling?

Our patients typically need to be referred from a treating physician; this could include a primary care physician or specialist. For example, we meet with patients referred to us from Cleveland Clinic Lou Ruvo Center for Brain Health at our two locations, in Cleveland and Las Vegas.

Patients ideally would bring their family health history and health records to help find any possible risks of Alzheimer disease (AD). For example, identifying family who were affected with AD like symptoms and at what age those symptoms started.

Genetic counseling and testing for early onset Alzheimer’s requires a team approach. We work with neurologists for a clinical diagnosis and psychologists to meet with people who would like to have predictive genetic testing to determine if they will inherit the condition and, if they do, help patients adjust to the diagnosis. Genetic counselors work more in the short term, explaining inheritance patterns, how genetic testing works, and how a genetic diagnosis may impact patients and their family.

Q2: Alzheimer disease is fairly common.  Is there any specific type of AD patient that should be referred to genetics?

Although our team at Genomic Medicine Institute is happy to see anyone with a family history of personal diagnosis of AD to discuss the genetics of the condition, most cases of AD occur in people over 60-65 years of age without a family history of the disorder; such late-onset cases are not strongly hereditary.  So, most people referred to me have a personal diagnosis or family history of early-onset disease (symptoms 60-65 or younger, often in a person’s 40s or early 50s) and/or a strong multi-generation family history.  A patient’s risk of getting AD increases when they have family history of early onset Alzheimer’s or dementia symptoms. Genetic testing is often an option for such families. We know of three genes that cause hereditary AD. Mutation in any one of these genes show a 96 -100% rate of AD in impacted patients.

Q3: Do you think there will come a day that everyone will want to be tested to see if they are at risk for AD?

No, it will always be an individual decision and not everyone will feel the same way. If a treatment to stop progression or a cure is discovered, more people might want to be tested. Currently, even though there is no cure for Alzheimer’s, some people may like to know so they can plan their later years of life. For people that are healthy who want to be tested, we have them see a psychologist or psychiatrist before the testing, to identify and treat any depression or anxiety that exists. We also want to insure that they have support and a contact person should testing be abnormal. This type of testing is only available to people 18 years or older. I have helped patients as young as 28, but most are in their forties or fifties.

Q4: Why should someone with AD in their family see you at CPGH?

We have a large and comprehensive team of physicians, psychiatrists, scientists, and genetic counselors to help a patient through this process. Due to the large number of genetic counselors we are able to develop specialties where we are well versed in certain diseases making us a highly knowledgeable resource for patients and their families.

 
 
Cleveland Clinic Genomic Medicine Institute

9500 Euclid Avenue / NE50, Cleveland, OH 44195

Appointment line: 216.636.1768 or 800.998.4785

clevelandclinic.org/genetics

If you have questions or wish to be removed from future newsletters, please email gmieducation@ccf.org