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