Medical Geneticist - How Does Genetic Testing Play a Role in my Health?
A Medical Geneticist is a physician that undergoes additional training
and education to become board certified in genetics. This physician can
provide comprehensive diagnostic testing, management, and counseling services
for patients with potential or known hereditary conditions. Examples of
hereditary conditions include cancer (breast, colon, ovarian, thyroid,
pancreatic), cardiovascular disease (hereditary aortic aneurysms, heart
conduction abnormalities), and neurologic disorders (early onset Alzheimer’s
disease and movement disorders such as Huntington’s and Parkinson’s).
If a potential hereditary condition is identified within the patient, genetic
testing is recommended with two main goals in mind:
- To identify a pathogenic mutation (an abnormal change in the gene leading
to abnormal function). Once confirmed, clinical monitoring (serial imaging,
blood work, routine follow up with specialists) is established in order
to prevent a serious medical event.
- To test other family members at risk. For those family members who test
negative, unwanted and unnecessary monitoring can be avoided.
Ultimately, appropriate genetic testing is not only beneficial for the
patient but for their family as well and can improve quality of life.
By reviewing your personal and family history, a primary care physician
is often able to identify a potential hereditary condition that may require
genetic evaluation. Or, a patient may already know the specific hereditary
condition tracking through the family and ask his or her primary care
physician to be referred to a Geneticist for further evaluation. Within
the Hoag Family Cancer Institute, Hoag offers a comprehensive Richard
J. Flamson Hereditary Screening Program, where familial cancers are evaluated
by genetic counselors. Hoag is also in the process of developing multi-disciplinary
clinics for hereditary cardiac and neurologic conditions.