Genomic Sequencing Should be Standard of Care for All Rare Cancer Patients.
Rare cancer patients often face a maze of questions, uncertainties, and decisions after diagnosis. In this complex landscape, it’s always difficult to advocate for any additional test, recommendation, or even consideration. And yet, we at the Rare Cancer Research Foundation witness daily how genomic sequencing is improving patient care. This is why we believe it’s time that it becomes the standard of care for all rare cancer patients.
Whether you’re a patient, a loved one, or someone invested in better care for all rare cancer patients, understanding genomic sequencing is essential. Our goal is to ensure that you have the tools to talk with your oncologist about this technology and advocate for yourself or a loved one.
Image credit: Christina Vivelo, Ph.D., with use of Canva.
What is Genomic Sequencing?
Genomic sequencing is revolutionizing cancer treatment by enabling doctors to choose treatments based on each patient's cancer's unique characteristics - a concept known as precision medicine. The test itself is a lab procedure that takes a small sample of your tumor, determines the DNA or RNA makeup of cancer cells, and then that data can be analyzed and put into a report detailing those cells’ specific features, including any mutations and variations.
There are different sequencing tests such as whole-genome sequencing (WGS), whole exome sequencing (WES), RNA sequencing (RNA-seq), and others, which provide different information about the cancer cells and each provide extremely detailed information that doctors can use to match patients to more effective therapies or new clinical trial options.
Who is Getting Genomic Sequencing Now?
Currently, only a small percentage of rare cancer patients are receiving genomic sequencing. Unfortunately, it is often ordered only after multiple therapies have been tried and failed. Our partners at the Chondrosarcoma Foundation, for example, revealed in a survey that under 19% of their patient community had received genomic sequencing at all. This must change.
Why is Genomic Sequencing So Important?
Genomic sequencing can be transformational for many rare cancer patients, offering:
Correct diagnoses: it can reveal rare subtypes of cancer or a more accurate diagnosis.
Clinical trial eligibility: sequencing can identify specific mutations that qualify patients for cutting-edge trials.
Targeted treatment options: insights from sequencing allow oncologists to use therapies designed to target specific cancer mutations, which are changes in the DNA sequence of a gene that can lead to the development of cancer. .
While this is not the case for every rare cancer patient that has sequencing done, the actionability is increasing every day. We owe this change to rare cancer patients to help them see if they have a mutation that could be targeted or a clinical trial they could qualify for. Because so many rare cancers lack a standard of care at all, and knowing about mutations can be actionable for oncologists – improving outcomes with a more targeted approach.
Why Doesn’t Everyone Get Genomic Testing?
Cost is often cited as the largest barrier to patients accessing genomic sequencing. However, the cost of sequencing is dropping significantly, and most rare cancer patients find that their insurance will cover the test.
For those without coverage, many sequencing companies offer financial aid programs, which can make the tests free or often less than $200. When that is prohibitive, numerous resources are available to help patients overcome cost barriers, and patients should not hesitate to ask their care teams, the genomic sequencing companies directly, or organizations like the Patient Advocate Foundation, for guidance in navigating financial aid options.
Another barrier is the perception that sequencing isn’t necessary for cancers with a known treatment option or that the results are not always actionable. While important to consider, in rare cancers, this just isn’t the case. Even when it doesn't immediately yield actionable results, obtaining genomic sequencing contributes valuable data to cancer research and science. As more patients undergo sequencing, our understanding of rare cancers improves, making future results increasingly actionable. And while many cancers may seem clear-cut at presentation, no clinician can know if an actionable mutation exists if genomic sequencing is not done.
Health equity is another critical concern. Historically, cancer research has disproportionately focused on white patients, leaving significant gaps in our understanding of cancer genomics across diverse populations. Ensuring minoritized patients receive genomic sequencing not only benefits each patient individually but also advances more effective treatments options for all patient groups.
The Path Forward
The time has come for genomic sequencing to become the standard of care for all rare cancer patients. This technology offers clarity, actionable insights, and hope—a powerful combination for patients and families navigating the uncertainties of rare cancer diagnoses. By working together, we can ensure that every rare cancer patient has access to the life-changing benefits of genomic sequencing.
