At Indiana University’s Precision Genomics Clinic, a breast cancer patient’s standard chemotherapy treatment took a devastating turn. What should have been routine care left her hospitalized for three weeks, fighting the effects of extreme toxicity.
The cause was not the cancer itself but a blind spot in medicine. Later analysis revealed a genetic variant in the DPYD gene, which prevents the body from metabolizing capecitabine, a widely used chemotherapy drug. For most patients, the drug is safe. For her, the standard dose was poisonous.
When “Rare” Is Really “Unseen”
What happened in this case was not an accident of fate. It was the direct result of gaps in the evidence that medicine relies upon. The DPYD variant was unknown to her doctors because it was scarcely present in the genomic datasets that inform guidelines. Clinical trials for chemotherapy regimens, too, had not enrolled populations broadly enough to capture the warning signs.
This is the uncomfortable truth: when whole groups of people are missing from the data, their risks remain invisible. What gets labeled as “rare” is often not rare at all, it is simply unseen, hidden because those who carry the difference were not represented in the first place. And when medicine cannot see, patients pay the price.
The Human Cost of Exclusion
The story from Indiana is just one patient, but it speaks for many. Across the world, most of humanity is still underrepresented in genomic data and in the clinical trials that shape cancer care. Their genetic differences and treatment responses remain overlooked. As long as this continues, standard treatments will carry hidden dangers for those who fall outside the narrow frame of today’s medical data.
The consequences are not abstract. They mean days or weeks in the hospital. They mean toxicities that compromise treatment. They mean lives lost, not because therapies cannot work, but because the data guiding them was never built to serve everyone.
Toward a Different Future
The lesson is urgent: precision medicine cannot be precise if it is blind to most of the world. Inclusion is not just about fairness; it is about survival. By recognizing that “rare” often means “ignored,” we can begin to change how data is collected, how trials are designed, and how treatments are tailored.
Until the real diversity of the world is represented in both research and clinical practice, tragedies like this will continue. Not because patients are truly rare, but because they have been left out of the picture. The path forward is clear: If medicine is to heal, it must first learn to see.
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References
- Gwaltney, C. Patient case study provides insight to toxicity from chemotherapy used for breast, colon cancers. Indiana University School of Medicine. 2020, August 3. Retrieved from https://medicine.iu.edu/blogs/cancer-research/case-study-provides-insight-to-toxicity-from-chemotherapy
