Our knowledge of genetics has exploded in the last couple of decades and now it can play a huge role in personalized medicine for patients!
Vanessa Mazzoli, MD, a gynecologist at Carolina Women’s Health, shares that a comprehensive family history is important to help determine the need for genetic counseling and possible testing. And, as always, it is patients who make the final decision on whether or not to pursue this option.
However, we all deserve to be informed about our options when it comes to genetic counseling and testing.
The role of genetic counseling and testing in gynecology
According to Dr. Mazzoli, when patients come in for a well woman visit, we look at family history of certain types of cancer to determine if a patient should be offered genetic counseling. These cancers include breast, colon, pancreatic, prostate, melanoma and certain types of uterine, ovarian, kidney or renal collecting system and thyroid cancer.
“For some of these, even just one family member affected can make a patient eligible for genetic counseling,” Dr. Mazzoli adds.
For example, breast cancer in a patient’s mother or sister, especially if at a young age, is a reason to seek out genetic counseling. In other situations, a provider might look for several affected members, showing a pattern of concern.
“In the mid 1990s, testing for BrCa mutations became available,” Mr. Mazzoli explains. “These genes increase the risk for breast and ovarian cancer. But now, the panels we use are much larger and test for 70+ worrisome genetic variants.”
Genetic counseling is more comprehensive, more helpful in caring for patients, but also more complicated. However, our team members can get patients to the right expert to help provide education about one’s family history, what testing is available, the pros and cons of testing and what screenings can be done periodically to help keep a patient healthy.
And it is very important to understand that receiving educated does not commit you to having testing done.
“After education you can have testing, or not have testing or defer to later down the road.”
The role of genetic counseling and testing in obstetrics
For obstetrics, also known as care received during pregnancy, family history for both the mother’s and father’s side is important.
Inform your physician of family members born with birth defects, autism, intellectual disabilities and inherited diseases,” Dr. Mazzoli advises. “Examples of inherited diseases include sickle cell anemia, Tay Sachs disease, cystic fibrosis and muscular dystrophy. Ideally, we love to see patients before pregnancy so we can discuss family history and other health concerns that may impact the health of both mother and baby.”
Genetic testing can be done on the mother to determine her risk for having a child with one of these chronic diseases. And, again, our team members can refer patients to the proper experts for appropriate education, counseling and testing, if desired by the patient.
Where the world of obstetrics is a little different from gynecology? There are many chronic diseases that are inherited in what is called a “recessive” fashion. This means a baby must receive an abnormal gene from each parent to show any evidence of disease. These conditions can run through families silently. So, all pregnant couples and those planning to conceive in the future, are candidates for carrier screening.
“Carrier screenings apply even for couples with no family history issues whatsoever,” Dr. Mazzoli shares. “However, most commonly, this screening is for genetic changes associated with cystic fibrosis, Fragile X disorders and spinal muscular atrophy. Sometimes Duchenne muscular dystrophy is added.”
Other specific things can be added to the screening if family history dictates. And again, ideally this testing is done before conception, so that couples at risk can be receive counseling and education about what the findings may mean for their children.
Do you live in the Greenville, SC area? If so, learn more about the women’s care services we provide at Bon Secours in this market.
