After reading Angelina Jolie’s editorial in The New York Times today, I came away with a few questions. How common is it to choose to have a double mastectomy as in response to a genetic test when technically you don’t yet have cancer? What do genetic counselors typically advise in these circumstances? Would insurance cover it?
Jacquelyn Powers is a certified genetics counselor with the Abramson Cancer Center of the University of Pennsylvania. In an interview with MedCity News she said: “I would say what is our gold standard is what’s in the family’s personal history that sets us down a certain path,” said Powers. “Women are more inclined to [choose] preventive surgery if they have lost someone close to them — that’s a big factor.”
She added: “Genetic testing for BRCA1 and BRCA2 is not necessarily common but is indicated for individuals who have a personal history and/or family history that is suggestive of a heritable predisposition.”
About 5 percent to 10 percent of breast cancers are due to an inherited mutation in either the BRCA1 or BRCA2 genes. A woman’s lifetime risk for developing ovarian cancer if she has the BRCA1 gene is 30 percent to 45 percent, Powers said.
“Some women choose to undergo a mastectomy because it drastically reduces the chances of developing breast cancer,” she said. Patients may choose to make the decision to have surgery as early as college age or continue to opt for screenings even beyond post-menopausal age.
She also pointed out that counselors encourage patients to take their time and consider their options so they can make the right choice for themselves. “For those who are ruminating back and forth, we encourage them to come back in six months” and re-evaluate their options.
Penn Medicine runs a research facility focusing on BRCA1 and BRCA2 genes called the Basser Research Center for BRCA1 & BRCA2. It’s the only research center of its kind in the country and has been open for the past year. Powers said it has amassed a collection of DNA from 4,000 families. Although the collection includes several hundred BRCA carriers, the majority do not have it but may have other mutations that can cause breast cancer.
A Deep-dive Into Specialty Pharma
A specialty drug is a class of prescription medications used to treat complex, chronic or rare medical conditions. Although this classification was originally intended to define the treatment of rare, also termed “orphan” diseases, affecting fewer than 200,000 people in the US, more recently, specialty drugs have emerged as the cornerstone of treatment for chronic and complex diseases such as cancer, autoimmune conditions, diabetes, hepatitis C, and HIV/AIDS.
Myriad Genetics is the only facility in the country that conducts BRAC analysis.
So how far away are we from a point when we get whole genome sequencing to better assess our cancer risks and option? Powers says it’s still restricted to the research arena but clinical gene panels could offer another option.
“…A complicating factor in gene panels is that some of the genes offered on the panel are of low to moderate penetrance. That is, mutations in these respective genes are associated with increases in cancer risk but the magnitude of risk is marginal and it is challenging to incorporate this information into clinical care. To contrast this, mutations in genes such as BRCA1 and BRCA2 (and others) confer an exponentially higher chance to develop certain cancers to the point where we act upon this information clinically. We start screening at earlier ages and more frequently as well as recommendation for certain surgical interventions. Undoubtedly, clinical gene panels will be utilized more frequently in the future as more and more is learned regarding cancer susceptibility.”
But what about insurance coverage? Arthur Caplan, a medical ethicist at New York University’s Langone Medical Center, had an interesting take on Jolie’s news for CNN’s website:
“Many insurance companies do not cover the cost of genetic testing for cancer and other conditions. The cost of the breast cancer test that Jolie had is prohibitive for many women. Some insurance companies won’t pay for elective preventive mastectomy. And still others balk at the cost of reconstruction — denying payment on the grounds that it is merely cosmetic or aesthetic.”
Although I didn’t get into the issue of reconstructive surgery, I did email some insurance companies to find out if they covered the genetic test and preventive surgery. For its part, Aetna stated in an email:
“Aetna has led the way in the coverage of genetic services since 1998. We encourage women to discuss BRCA testing with their doctors.”
It also sent a link from its policy bulletin outlining the categories for which it considers BRCA testing, pophylactic mastectomy and prophylactic bilateral oophorectomy are medically necessary.
[Photo Credit: Confused from Big Stock Photos]
