I had just stepped off my broom at the Quidditch World Cup after losing in the quarterfinals when I got the call: "Your grandmother isn't going to make it. You need to come home." It hit me hard, but I wasn't entirely surprised. After all, it was her third cancer. It wasn't until after my grandmother passed, when my aunt was diagnosed with uterine cancer and I discovered that my great-great-grandmother had died from stomach cancer, that a voice from my genetics class started ringing in my head: "Genomics... genetic inheritance... ethical decisions...do you really want to know?"
As genetic testing becomes more accessible, more people will not only consider testing, but also have to understand the immense responsibility and ethical decisions surrounding their results. I am currently at that genetic crossroads, and I am not sure which path to take.
My maternal family history includes two incidences of gastrointestinal (GI) cancer, one a rare form; one case of breast cancer; and one diagnosis of uterine cancer. It was the diagnosis of uterine cancer that led my aunt to consider genetic testing. When I heard my aunt was considering genetic testing, I knew her decision affected me as well. To learn more about the decisions ahead of me, I visited the Massachusetts General Hospital Cancer Center, where genetic counselors assess patients' risk and help make the process of decision-making easier by providing options, a support system and advocacy for families.
My family history suggests that I could be at risk for inheriting the BRCA and Lynch syndrome mutations. BRCA 1 and BRCA 2 are tumor suppressor genes; a person who inherits a mutated BRCA gene no longer has that safeguard against tumors. BRCA is an autosomal dominant gene, which means parents with the mutation have a 50 percent chance of passing it on to their children. In an article published by the Journal for Woman's health, Stanford researchers have estimated that women with a BRCA mutation have a 60-85 percent lifetime risk of getting breast cancer and a 40-50 percent lifetime risk of getting ovarian cancer. Women without these mutations only have a 12 percent lifetime risk of breast cancer and a 2 percent risk of ovarian cancer.
Lynch syndrome, on the other hand, is comprised of five different genes that affect the GI tract in a manner similar to the way that BRCA affects the breasts and ovaries. These genes are also autosomal dominant. A positive result for Lynch syndrome means a 60-85 percent lifetime risk of colon cancer and a 40-65 percent lifetime risk of uterine cancer as well as a heightened risk for other GI cancers. In the general population, the lifetime risk of colon cancer is five percent and the lifetime risk of uterine cancer is two percent.
Some indicators of a potential mutation of these genes are several related cancers in a family, early onset of cancer, rare cancer diagnoses and people with multiple cancers. So, it is easy to understand my concern, not only for myself, but also for my family.
As genetic counselors Devanshi Patel, Janette Lawrence and Meredith Seidel explained, the first thing I need to consider is my insurance. The Genetic Information Non-discrimination Act (GINA), which went into effect in 2010, made it unlawful for health insurance companies or employers to discriminate against a person because of genetic test results. However, this does not apply to life insurance or disability insurance. Genetic counselors may suggest that patients secure life insurance before they sign up for genetic testing. As a potential patient, I will also need to know whether my insurance company covers genetic testing and counseling. Many companies cover it for people already diagnosed with cancer, but charge (over $5,000 full price) for diagnosing the BRCA and Lynch syndrome mutations in those without a cancer diagnosis.
I will also need to consider what health care choices I might make if I test positive for one of these mutations. First, I could elect to get health screens (such as mammograms and colonoscopies) earlier and more often. Getting colonoscopies yearly could reduce the risk of getting colon cancer to almost zero because it is gives doctors a chance to spot growths before they become malignant. I could also choose to go further and have prophylactic surgery--that is, have my ovaries removed--some time before I turn 35. That drastic measure reduces the risk of ovarian cancer to four percent. However, the genetic counselors explained, that intervention cannot start for a young woman until she is 25.
I will also need to consider the implications for my family members. I am lucky that my family is very close and open with each other. Often, the genetic counselors have to help patients write letters to estranged family members to alert them that they are at a high risk of cancer. In my family, the most likely person to get tested would be my aunt, because she already had cancer. If she tested positive for BRCA or Lynch syndrome, it would mean her two children have a 50 percent chance of inheriting either mutation. Although one of her children is male and breast cancer is rare in men, his lifetime risk of breast cancer would rise a hundred-fold and he would have a 50 percent chance of passing the BRCA mutation or Lynch syndrome to his offspring. If she tested negative, neither of her children would have inherited a mutation from her.
The next person to get tested would be my mother, and her results would have the same implications for my brother and me. If she tested negative, my brother and I would not inherit a mutation from her. However, a positive result for either my mother or my aunt could also have implications for my extended family. For example, if my aunt tested positive it would mean one of her parents--my grandparents--is positive as well. My grandparents' siblings would then also have a 50 percent chance of inheriting the mutation, meaning that my cousins could have the mutation as well. Additionally, if siblings get tested together, one sibling may have the mutation and the other may not. This can open up a Pandora's box of emotions from devastation to relief and from "survivors guilt" to resentment.
Finally, I will need to consider the implications for my future family. If I test positive for a mutation, it could mean rushing into relationships or having children too early. The genetic counselors at MGH told me that some parents-to-be choose in vitro fertilization so that they can have multiple embryos screened for cancer-causing mutations. Only those that do not have the mutation are implanted, thus ending the mutation in their family line forever. However, procedures like this are highly controversial and can cost more than $20,000.
Sitting in that genetics class the fall of my sophomore year, I never would have thought that what I was learning would pertain so directly to me someday. The MGH genetic counselors ask their patients, "If you have a genetic mutation with a chance of intervention, what would you do with that information?" Would you completely alter your life? Your family's lives? Or would you use the information to empower your decision-making?" I know I have asked myself all of these questions and weighed my options, but my genomic future still isn't clear. As genetic testing becomes more accessible, it's about time we all ask ourselves: What will we do with that information?
For more on the personal and policy decisions raised by genetic testing, watch NOVA's Cracking Your Genetic Code, premiering Wednesday, March 28 at 9 p.m. on most PBS stations. Please check your local listings to confirm when it will air near you.