Many health conditions and cancers have a genetic or hereditary component and for some conditions genetic testing via a blood or saliva sample is available. Genetic testing can clarify a diagnosis, provide guidance regarding appropriate surveillance, and can identify family members who may be at risk.
At the Center for Advanced Digestive Care, genetic services are provided by a master's level genetic counselor and an MD-PhD geneticist who is a fellow of the American College of Medical Genetics. Genetic counselors are health professionals trained to interpret medical information for patients and to gather appropriate personal and family history information in order to assess genetic risk. During a typical initial genetic counseling visit a three- to four-generation family tree, or pedigree, will be drawn and pertinent health information will be collected. It is helpful if patients can speak to their relevant family members ahead of the visit to clarify specific diagnoses (particularly specific types of cancer diagnoses) and also ages at diagnosis.
If it is determined that there may be a hereditary predisposition to cancer in the family, then genetic testing may be available and a genetic counselor can explain the benefits, risks and limitations of testing. Genetic counselors can facilitate the testing and convey results.
A Medical Geneticist can go one step further and look for physical clues of a cancer predisposition syndrome such as unusual skin pigmentation, large head size and other benign but informative features. This additional data can suggest other, more uncommon syndromes that may not have been originally suspected.
Some findings that may suggest a hereditary cancer predisposition syndrome are:
- Young age at onset of cancer
- Multiple individuals in the family affected with the same cancer or an associated cancer. For instance, in Lynch syndrome there may be multiple individuals with either colorectal and/or uterine cancer in the same family.
Genetics Services Staff:
Steven Lipkin, MD, PhD, FACMG is a board certified Medical Geneticist with a focus on gastrointestinal diseases, including the Lynch Syndrome, Familial Adenomatous Polyposis, Hemochromatosis and Hereditary Pancreatic Cancer among others. He is an authority on cancer genetic syndromes, with a particular emphasis on hereditary gastrointestinal cancer syndromes. Dr. Lipkin trained in Internal Medicine at Duke University and Medical Genetics at the National Human Genome Research Institute.