The bigger picture

Better diagnostics that make use of genomic profiling have wider applications than just precision medicine, the Broad Institute’s Adalsteinsson said.

  • It’s now technically possible to screen for cancer through a simple blood draw, although there’s a lot of work to be done in making those tests more sensitive for earlier-stage cancers, he said.
  • That means eventually, patients could be screened for cancers via a blood test as part of their annual physicals, for example.

Blood tests can also help check the effectiveness of a treatment by essentially seeing how much residual cancer remains after a surgery, and whether further treatment is needed.

  • That’s in contrast to simply treating a patient based on their risk profile for cancer reoccurrence.
  • The tests may cost upward of $1,000, but “when you think about the potential benefit to the patient in knowing whether more precisely this therapy is needed or not, and in some cases avoiding treatment with highly toxic and expensive agents — [that is] a huge factor to consider,” Adalsteinsson said.

Yes, but: Although the cost of genomic profiling has steadily decreased, it’s still relatively expensive, and not all patients have access to it. That could further contribute to health disparities.

  • Even those who do have access may not get matched with a treatment specific to their mutation.
  • “The majority of cancer therapies delivered today are not personalized at the level of genetic mutations,” Delfi Diagnostics’ Bach said, although “if you go back 10 years, nearly all treatments were non-personalized.”
  • “Nothing ever paces perfectly, but finding mutations that are not yet druggable isn’t a bad thing,” he added. “It’s frustrating in the moment, it’s frustrating for a patient and for taking care of that patient, but it’s a good thing to know there’s a potential opportunity that can then be worked on scientifically.”

By the numbers: About a third of cancer patients have a genetic mutation that is predictive of their response to standard-of-care therapies, said David Solit, director of the Marie-Josée and Henry R. Kravis Center for Molecular Oncology at Memorial Sloan Kettering Cancer Center.

  • Drugs have been developed for use against only about a third of those mutations.
  • “I think we’ve identified both the common and even the rare genetic drivers in the vast majority of patients,” Solit said. “We’re going to need to come up with newer diagnostic platforms to move the field forward.”
  • “We need complementary information and we need better drugs,” he added.

The bottom line: “If you’re a cancer patient, you should be looking to seek this out and get sequencing done. I think it helps inform treatment decisions and can improve clinical outcomes,” former FDA commissioner Gottlieb said.

The growing cancer care ecosystem PitchBook coincidentally put out a report this week looking at the oncology healthtech market.”New innovations in cancer screening with liquid biopsy blood tests and image-based detection are likely to result in rising demand for new cancer detection products, and longer-term, regular multicancer detection is set to become part of the standard of care in health screening,” the report predicted.By the numbers: Oncology healthtech startups have raised over $16 billion in venture capital funding since 2020, per the report.PitchBook estimates the global oncology healthtech market to be about $250 billion, with cancer screening making up the largest part. That market alone is an estimated $100 billion globally and $40 billion in the U.S.My thought bubble: Innovation is expensive — and, for some, lucrative.As PitchBook points out: “Though there is broad willingness among payers and providers to improve the rate of cancer screening and a need for more effective diagnostics, adding every new screening test that comes to market is not a viable solution.”

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