Similarly, the US Preventive Services Task Force issued a recommendation that Ashkenazim in general, and not only those with a family history of cancer, should be tested for BRCA mutations.
By IRA BEDZOW, TAMMY ADARCancer illustrative(photo credit: PIXABAY)
The push for population-based genetic screening for BRCA (breast cancer susceptibility gene) mutations in Ashkenazi communities continues to gain strength in both the medical and religious communities, which have advocated for wider testing. For example, researchers in the UK have suggested moving toward BRCA testing for the entire Ashkenazi community, not just for people with a family history of breast or ovarian cancer, claiming the wider reach could identify 150% more people who carry a mutation.Similarly, the US Preventive Services Task Force issued a recommendation that Ashkenazim in general, and not only those with a family history of cancer, should be tested for BRCA mutations. A recent report cited a number of Orthodox rabbis who claimed that genetic testing is a mitzvah, and potentially even a biblical obligation that can override Shabbat observance.This is the quintessential example of decision-making in a policy bubble – the type of decision-making that often leads to unintended adverse consequences.Knowledge about one’s genetic predispositions allows people to make informed decisions about their lives and their health. However, advocating for population-based genetic screening without any qualifications or mention of the potential consequences of testing is both irresponsible and potentially misleading.It is irresponsible because increased screening without commensurate genetic counseling as to the medical implications of a positive or negative test leaves people with information, yet without the ability to make informed decisions based on that knowledge. It is potentially misleading because it exaggerates the prevalence of BRCA mutations among Ashkenazim.What is BRCA and how does it cause cancer?BRCA1 and BRCA2 genes prevent cancer by helping repair damaged DNA. Mutations in these genes means that they do not work, so the chances of getting cancer is higher. For example, the lifetime risk of getting breast cancer for the general population is 12%; the risk ovarian cancer is 1.3%. This means that there is still a risk of getting breast or ovarian cancer even if one does not have a BRCA mutation.For those who have a BRCA mutation, the chances of getting breast cancer increase up to 87%, and ovarian cancer up to 54%. The fact that these risk factors are not 100% means that having a BRCA mutation does not guarantee that the person will get cancer. A person’s genes do not solely determine a person’s fate. Environmental and epigenetic factors mitigate the propensity of getting breast or ovarian cancer.Moreover, the risk of getting cancer increases with age. It is not the case that a person with a BRCA mutation will have the same cancer risk at 20 as they do at 40.For the general population, the risk of having a BRCA mutation is less than 0.5%. For Ashkenazim, however, the chance of carrying a BRCA mutation is 2.5%. That means that one out of every 40 Ashkenazim are at risk of having a mutated BRCA gene. It also means that 39 out of 40 of that same group are not.Family history increases risk because BRCA mutations are typically inherited from either parent – and yes, men are also susceptible to increased risks of cancer because of BRCA mutations.We are not trying to minimize the risks associated with BRCA mutations or its prevalence in the Ashkenazi community. But we do believe that it is important to be aware of its prevalence when advocating for a blanket population-based policy. Social pressure for indiscriminate genetic testing would result in a misallocation of resources that could have gone to other health needs of the Ashkenazi community. Social pressure may also create undo anxiety for a larger proportion of the population than is warranted.What are my options if I have a BRCA mutation?Women with BRCA mutations can monitor themselves for cancer through periodic mammograms and pelvic ultrasounds; take risk-reducing medication; or undergo preventative surgery, such as having a mastectomy or removing their ovaries.Screening can help detect breast cancer at earlier stages, but does not prevent it.Risk-reducing medication may have other side effects, including difficulty in getting pregnant.The suitability of any of these options changes over time, as life goals are fulfilled and risks for cancer increase. For example, the feasible options for a 22-year-old single woman who wants to get married and have children may be very different than for a 36-year-old woman with a husband and three children.In addition, the psychological toll of possible future surgeries may have a significant impact on a person’s well-being. All of these factors should be considered when a woman decides to test for a BRCA mutation.Genetic counselors offer tools and help women think about these issues, yet blanket proposals for mass population-based screenings don’t usually take these concerns into account.Understanding the difference between BRCA and other genetic testingIn general, the Ashkenazi community is well-versed in the importance of genetic screening and values the benefits that genetic testing provides. Through the increased testing of genetic diseases that are prevalent in the Ashkenazi community, occurrences of fatal and debilitating genetic diseases, such as Tay Sachs, have decreased tremendously.However, there is a big difference between most Ashkenazi genetic testing and testing for BRCA mutations. For most other Ashkenazi genetic diseases, genetic testing is used to determine whether individuals are carriers of a recessive gene associated with a genetic disease. This information provides guidance regarding reproductive options if both partners carry the same recessive gene mutation.BRCA testing, on the other hand, lets people know if they have the genetic mutation that puts them at risk for cancer. Disclosure that one has the BRCA mutation directly affects the person’s perception of present and future health.As such, it is important for individuals to consider how they will act on the information that genetic testing for a BRCA mutation may present – how it will affect their decision to marry, have children, and undergo prophylactic measures. Advocates for population-based genetic screening, from both the medical and rabbinical community, should be more careful about making blanket statements saying that everyone should get tested, at least by advocating for testing at ages when cancer risks increase and for making sure that their promotion of genetic testing also promotes genetic counseling.Individuals who are concerned about having BRCA mutations should seek guidance and ways to make informed decisions, and the medical and Jewish community should advocate for increased awareness and knowledge. We should not simply be pushing for an increase in obtaining genetic information.Ira Bedzow is the director of the biomedical ethics and humanities program at New York Medical College. Tammy Adar is a certified genetics counselor and manager of the genetic counselor program at the Memorial Cancer Institute of the Memorial Healthcare System in Hollywood, Florida.
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