This story was originally published by the Indian SCENE in February 2019.
It was a little over two years ago that Anjali Karamchandani got the phone call and felt like a ton of bricks had fallen on her: “I’m sorry to tell you this, but your genetic test results have come back positive for a BRCA2 gene mutation. This means you have a significant risk of developing several types of cancer, including breast cancer, ovarian cancer and pancreatic cancer…”
What followed was what the 32-year-old mother of four and former Michigan resident calls “a series of decisions and events that would alter the course of my life as I knew it.” Now, 20 doctor’s appointments, an oophorectomy and a preventative double mastectomy later, she looks back on the journey and recognizes it as the most difficult thing she has ever experienced but is confident that she made the right decisions for her children and her family.
Dr. Sofia Merajver, scientific director of the Breast Cancer Program and director of the Breast and Ovarian Cancer Risk Evaluation Program at the University of Michigan’s Rogel Cancer Center, says that too few patients predisposed to cancer will receive the genetic testing and counseling needed to help them manage their risk — through medical or surgical procedures or through lifestyle choices.
Merjaver’s clinic, the first of its kind in the state of Michigan, focuses on helping prevent breast cancer from occurring in those at increased risk because of certain gene mutations. Her specific research interest is in making genetic counseling and testing more widely accessible to people across ethnic minority groups and socio-economic status.
She and her colleagues estimate that only 12 percent of at-risk patients who should be referred for genetic testing will be and that only about 5 percent of those referred patients belong to ethnic minority groups or have low socio-economic status. “We feel that the disparity in access is really profound,” Merajver says. “The reasons for that are complex and not uniform across populations.”
Karamchandani had long worried about her cancer risk; both of her grandparents and her aunt on her mother’s side had died of cancer. But when she first met with a genetic counselor in 2015, the counselor was convinced that her chances of a genetic mutation were small. Only after much persuading and a reminder that much of Karamchandani’s family’s medical information was missing from earlier generations in India did the counselor agree to perform genetic testing.
For ethnic minorities with recent immigration history or those who are adopted, incomplete medical records can be quite common, Merajver says. “Those are especially the people we like to help. Those people need to be referred, because the assumption is that if you don’t know, err on the side of caution.”
If patients choose not to seek out genetic testing or counseling, Merajver says that’s their choice, but she does worry that people are doing so because they’re afraid of the consequences — familial, societal or economic. “That’s what keeps me up at night. I feel that there are a lot of people who should be protecting themselves and taking precautions who are not.”
She says she has heard a number of reasons why patients of color are not accessing genetic risk evaluation services: “Some people just don’t feel that comfortable today talking about cancer history. Sometimes parents and grandparents, older generations, are not at all comfortable talking about it, they’re concerned that it’ll affect the reputation of their children. Or in some groups that it might affect the chances of their son or daughter having a good marriage.”
“The most difficult part of this journey is that there is knowing that there is a 50 percent chance I have passed this genetic mutation on to my children,” says Karamchandani. “It scares me and worries me to think that any of my children may be affected. I constantly battle with this realization, and it has been the most difficult part to accept.”
Uncertainty about the future of the Affordable Care Act, which bans insurance discrimination on the basis of pre-existing conditions, may also be dissuading members of ethnic minority groups from seeking these services, Merajver suggests. “There is a cadre of reasons and more work to be done and more outreach that needs to take place to better educate potential patients about the need for prevention of cancer, for finding out as much information as they can to be able to protect themselves.”
To address the systemic barriers — aspects of the health care system that may be responsible for the disparities — Merajver has worked to implement an online tool in primary care clinics that allows patients to outline their family history of cancer, data which is then used to generate a simple risk report for patients and their physicians. She is hoping to translate the tool into many languages in the near future.
Despite the cultural and personal baggage that may surround family health history, Merajver is emphatic that such information is vital for the health of future generations. “It an enormous help for your children.”
Karamchandani says it was precisely this love for her children and family that pushed her to take proactive measures after learning she was positive for the BRCA mutation. “Every woman in this situation has to make the decision that is best for them,” she says. “For me, I could not wait for the day that something happened; I used the knowledge and information I had to take whatever actions I could.”
It wasn’t easy — she and her husband, Samir, had recently moved to New York, and were still adjusting to new jobs, schedules and the fast pace of the East Coast, all while raising three children and a newborn. With the support of Samir and the counsel of her gynecological oncologist, she decided to undergo the oophorectomy and double mastectomy. It was a painful process, emotionally and physically — she still feels some discomfort from the procedures and says there are days she is overcome by the sheer magnitude of what she has endured in the last three years. Growing up overweight and having given birth to four children, Karamchandani had already spent a long time struggling to accept her body, compounding the difficulty.
“Losing any part of your body is physically and mentally difficult, and this decision was especially heartbreaking, as I was making a conscious decision to remove something so sacred to my womanhood,” she says. “But, I knew what my priority was. I was determined to always be there for my family.”