Do You Have A Right To Know If You Are Sitting On A Ticking Timebomb? Apparently Not

Over the last few years, I have devoted a lot of space on this platform to women’s health and oncology. That is because I am both a cancer scientist currently working in breast cancer and because I have always regarded myself as a person who is generally in favor of promoting women’s health through education and research (whether that qualifies me as a feminist or not is currently up for debate). Therefore, we have been discussing much of the infamous BRCA1 and BRCA2 mutations (for example here and here). If you do not have time to go through and read those articles, here is the short version of the story. Some women have mutations in their BRCA1 and/or BRCA2 genes, which make them more susceptible to being diagnosed with breast and ovarian cancer. This means that those who do are kept under close observation when they are healthy, so that the cancer may be caught early when it arises and treated with higher probabilities of success. Some women also choose to have preventive surgery – in this case mostly hysterectomies and mastectomies – removing the tissue that is at risk and therefore bypassing the issue all together. The bottom line is that while having BRCA1 and BRCA2 mutations is scary – essentially the genetic equivalent of sitting on a ticking time bomb – it is also something that we can very much do something about. To continue with the Mission Impossible-esque metaphor, we can diffuse the bomb, or at least evacuate the area so that when it goes off there is a limited risk of casualties. What’s more, even patients who are diagnosed with breast cancer can benefit form testing as different treatments can have different effects on patients with different genetic backgrounds, This means that if you have a BRCA2 mutation, for instance, you will respond better to certain treatments than others, which is further incentive towards getting tested. This is part of the reason why I encourage all my personal friends and relatives to undergo genetic testing (other than – because it’s fun). The notion that one would rather “not know” is intrinsically linked to the idea that our genes are the modern equivalent of our fate, unchangeable and yet written in the stars (or hand lines, or tea leaves, or whatever). Of course, genetics has nothing to do with destiny. The clever scientists who figured out that BRCA1 and BRCA 2 mutations increase the risk of cancer also figured out why, which is how we can now very much do something about that particular time bomb. That is, if we know we are sitting on it.

A troubling study  from researchers at Johns Hopkins University and Vanderbilt University looking at patients who attend community health centers in the southeastern United States has revealed that only about 8% of the women who are eligible for testing do so. This is in striking contrast with a test rate of over 50% achieved by patients in Georgia and in Los Angeles County. Perhaps unsurprisingly, the women surveyed in those studies seemed to have an average higher income than the women from the community health center study, with more than half of the patients surveye in Los Angeles and Georgia reporting an annual income higher than $40k, as opposed to an average annual income of less than $15k in the community health center based study. Also unsurprisingly, the women who reported higher income and genetic testing rates also reported much higher levels of education.

On one hand, these results could be labeled as unremarkable. Women who have more resources attend better clinics, where they receive better treatment. Moreover, they tend to be more educated and to have more access to outreach programs, which likely signifies that they are more likely to be interested in genetic testing in the first place. At the same time, it is interesting to consider that this may well be one of the first examples of how the marvels of modern genomics are becoming divided across social divides. All the work and progress that came from decades of research and that has lead us to understand disease so much more is only really benefiting the wealthy – or at least the wealthy-er. It is depressingly unsurprising that while the cohort of wealthy patients was mostly white, the cohort of patients who attended community clinics and received almost no access to genetic testing was mostly black. Of course, the latter group of patients still regularly paid taxes, which funded much of the research that has lead to the amazing medical advances they are now denied. It does not take a team of ethicists to determine that this is wrong.

It does, however, take a team of specialists to understand how to fix this problem before it gets to post-apocalyptic proportions. If the trend continues, it would not be unreasonable to imagine a future when half the population frequently perishes to diseases that are easily treated in the other half. While of course this awful paradigm is already a reality on a global scale, where millions die of easily prevented diseases or simply of lack of clean water an malnutrition, stopping it from spreading throughout the country seems to be an effective first step towards addressing the issue world-wide. addressing the root causes of social and ethnic inequality is, of course, the root solution this country needs. In the meantime, however, diverting slightly more time and resources towards effective scientific and medical communication for the general public and for patients in particular might prove to be effective. After all, changing the patient culture through all parts of society may well lead to patient-driven change. Patients knowing about the importance of genetic testing and requesting it would have, for instance, driven up the testing rate in the community clinic study. Patients in that specific study, in fact, were all entitled to receive testing through Medicaid, which rules out affordability as a reason to not go through with the testing. On the other hand, physicians not mentioning it as an option or lack of interest from a patient perspective were the most likely culprits, both of which could be at least partially addressed by more effective communication. We look forward to seeing more of it in the future.

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