Since becoming a genetic counselor, I have met with hundreds of patients. One of my most memorable patients came to see me after he (yes, a man) was diagnosed with breast cancer. This man’s doctor thought BRCA testing might be warranted, since male breast cancer is rare and is often caused by BRCA mutations. The two known BRCA genes, when functioning properly, protect our bodies from developing cancer. A genetic change, or “mutation,” in a BRCA gene alters the performance of the gene and makes a mutation “carrier” more susceptible to cancer (especially breast and ovarian cancer). An individual with a mutation also has a 50% chance of passing it and its associated risks to I have met with hundreds of patientseach of his or her children.
Now, back to my patient. Immediately following his diagnosis, he called his daughter (a 34-year-old mother of two small children) to tell her the news. In a panic, she visited her gynecologist, who found a small lump and diagnosed her with stage 1 breast cancer. She is currently being treated and is expected to have a good prognosis. At the end of our BRCA discussion, my male patient said to me: “I am so thankful to G‑d that I have cancer. If I wouldn’t have found my cancer, my daughter would never have checked, and she would have left behind a 4-year-old and a 1-year-old. I am so lucky.”
I learned two things from this man: First, he is an admirable person who can find the silver lining even in his own cancer diagnosis. If only we all could be that positive! Second, this man is a good father and also a good communicator.
I believe that discussing health history should be a priority among family members—and that both the affected and unaffected individuals have the responsibility to bring up these issues. Don’t assume all is good just because you haven’t heard any bad news. I find that some people may be holding back genetic information because they feel that there is a stigma or Genetics is a family mattershame surrounding genetic carriers, but that should not be the case. We all should work hard to break this stigma and make it more comfortable for people to have discussions about genetic diseases. Even if you don’t usually talk about these things, I want to remind you that genetics is a family matter, whether we like it or not. Siblings and parents share half of your genetic material!
As a genetic counselor, I am trained to take very detailed family histories (what we call “pedigrees”) for each of my patients. The pedigree is one of the most important tools in my field because it can provide clues as to whether a particular disease is hereditary and, more specifically, how it is being passed down in the family. The more information a patient has about his or her family members, the more successful and efficient the counseling will be.
There are times when the pedigree is not as useful as it could be. This may be because some families are too small to make any conjectures, because details about certain diagnoses are just not discussed within the family, or because some families don’t keep in close contact.
From a professional standpoint, I am urging you to keep in touch. I’ve seen so many different and unique ways for families to stay connected via phone, blogs, Facebook, family e‑mails and texts, and networking Take the time to keep each other in the loopwebsites. So, even if you don’t live close to your relatives, take the time to keep each other in the loop.
There also are support organizations for just about every genetic disease, with staff who can help you devise a plan for communicating with family members. In some cases, a genetic counselor can send letters to relatives of patients to let them know that there is a familial mutation, without revealing who the patient is. I myself have sent such letters in regards to patients who are BRCA mutation carriers. It’s okay to ask for help!
The Torah commands us, “Ve-nishmartem me’od le-nafshoteichem”—“Be extremely cautious for your lives” (Deuteronomy 4:15). What better way is there to protect our health and the health of our family members than to be proactive about it? A simple conversation can save a life. It certainly did for my patient’s daughter.
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