Testing beyond BRCA in breast and ovarian cancers was the focus of a recent article in JAMA Oncology. The conclusion was:
In a clinically representative cohort, multigene panel testing for HBOC risk assessment yielded findings likely to change clinical management for substantially more patients than does BRCA1/2 testing alone. Multigene testing in this setting is likely to alter near-term cancer risk assessment and management recommendations for mutation-affected individuals across a broad spectrum of cancer predisposition genes.
Increased testing certainly offers more opportunities to find the patients who are likely to benefit most. But for a pharmaceutical company, success isn’t guaranteed if you have a prognostic biomarker—they must invest in having a conversation with the patient because there are emotional and subconscious barriers to getting tested, and the uncertainty of what to do with it. Pharma has opportunity to be part of the solution, helping bring clarity and engaging before the diagnosis.
Take my own situation: I have been thinking about and talking with my spouse about this a lot lately. We are getting older, and I suppose the odds are against us—something somewhere is already mutated, I am sure of it. As patients, we are heading into a world that will be able to quantify a lot of our health risks, and yet many more will remain unknown only to be found out when I am diagnosed. A dystopian future where your mutation profile may be with you the same as your SSN is today—constantly present in every healthcare transaction. Right now, my odds of dying:
- In an airplane crash are one in 11 million (2006 study by Harvard University prof David Robeik)
- In a car crash are about one in 5,000 (same study by Robeik)
- Developing cancer: one in two (one in three for women)
- Dying from cancer: one in five (one in five for women)
Cancer, as evidenced by the numbers above, is a very real risk. The realist in me sees it as a question of when, not if, so anything that helps inform this could be good. “Cancer predisposition genes” are exactly what they promise—indicators of higher probability but no guarantee of it happening or not. We struggle with estimating probabilities of events in our lives anyway. The probability that we are all better than average is 80% (there is a psychological experiment that consistently shows this), which, for the uninformed, is impossible. We are equally bad at inferring probability or rather good at neglecting probability.
A 1993 study by Baron et al. concluded this bias could make actors drastically violate expected-utility theory in their decision making, especially when a decision must be made in which one possible outcome has a much lower or higher utility but a small probability of occurring (e.g., in medical or gambling situations). In this case, one of the outcomes, as rare as it may be, has highly negative utility associated with it. But all the theories in the world don’t quite capture irrationality. If we don’t find out, it’s not there, and hence I can ignore the probability. If we found out, we would be predisposed to doing something about it because that’s the right thing to do—and perhaps along the way forget that higher odds are still just odds.
Fast-forward to the future. Your spouse could go get a multigene panel run (almost in a retail-like setting), and some singularity in the results has the potential to suddenly become the center of our lives. We will become part of the statistic? (I exaggerate but is it real?) If you know the answer, what would you do with it? Would you abandon everything and do something else? Get double mastectomies? Would you double down and say, “Let it happen”? Can you do nothing? I ultimately fear the testing is going to leave the question of “what should I do?” hanging, and doing nothing just won’t be an option.
Ultimately, the choice remains: To test or not to test? My answer right now is: Yes, but not yet.
Pharmaceutical manufacturers: Talk to me (and the rest of us) before we become a patient, and help us get through the rationality and fear that surrounds these decisions. Patient conversation is needed now, and the best outcomes will come with understanding the moments where the clinical clarity isn’t the only driver in how we make choices.
We, at ZS, are thinking about these issues as well. There are many opportunities to establish a strong and meaningful strategy & dialogue with Oncology patients, and ZS’ patient & consumer practice can help.