Many health conditions and cancers have a genetic or hereditary component, and for some conditions genetic testing of a blood or saliva sample is available. Genetic testing can clarify a diagnosis, provide guidance regarding appropriate surveillance (such as the frequency of screening tests), and identify family members who may also be at risk.
At the Center for Advanced Digestive Care (CADC) at NewYork-Presbyterian/Weill Cornell Medical Center, genetic services are provided by a master's level-prepared genetic counselor and an MD-PhD geneticist who is a fellow of the American College of Medical Genetics. Genetic counselors are healthcare professionals trained to interpret medical information for patients and to gather appropriate personal and family medical history information to assess their genetic risk.
During a typical first 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 before the visit to clarify specific diagnoses (particularly specific types of cancer) and also their relatives' ages at diagnosis.
If our genetics team determines that there may be a hereditary predisposition to cancer in a family, then genetic testing may be offered. A genetic counselor explains its benefits, risks, and limitations. Genetic counselors can facilitate the testing and communicate the results to patients and their families.
A medical geneticist goes one step further and looks 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 there is a hereditary cancer predisposition syndrome in a family are:
- Young age at onset of cancer
- Multiple individuals in the family affected with the same cancer or an associated cancer. For instance, in families with Lynch syndrome, there may be multiple individuals in the same family with either colorectal and/or uterine cancer.
Genetics Services Staff:
Steven Lipkin, MD, PhD, FACMG, is a board-certified medical geneticist with a focus on digestive diseases and disorders, including Lynch syndrome, familial adenomatous polyposis, and hemochromatosis and hereditary pancreatic cancer syndrome, among others. He is an authority on cancer genetic syndromes, with a particular emphasis on hereditary gastrointestinal cancer syndromes such as colon cancer (colorectal cancer). Dr. Lipkin trained in Internal Medicine at Duke University and in Medical Genetics at the National Human Genome Research Institute.
Francesca Tubito, MS, CGC,is a genetic counselor whose focus includes hereditary gastrointestinal cancer syndromes, including Lynch syndrome and familial adenomatous polyposis syndrome, among others. Francesca is dedicated to patient-centered care and manages the CADCís hereditary GI cancer registry. Francesca trained studied genetics at Rutgers University and genetic counseling at Long Island University-Post before joining the Center for Advanced Digestive Care as a genetic counselor.