It’s long been one of the most vexing questions for doctors who treat cancer.
Why does one patient with a malignant tumor respond well to chemotherapy or to another cancer treatment, and a second patient — with what appears to be the same kind of tumor — doesn’t?
Increasingly, scientists believe that any of a multitude of genetic mutations are responsible for the spread of cancer. If doctors could sequence the disease’s DNA through a standardized test, the thinking goes, they might be able to tailor a treatment to that specific form.
Cambridge-based Foundation Medicine Inc. has been working on just such a diagnostic test, and a top executive says she’s optimistic that federal regulators will approve it by the end of the year.
The testing would detect all four classes of genomic alterations in more than 300 cancer-related genes that cause solid tumors, including those in the lung, colon, breast, ovaries, and — in cases of melanoma — the skin.
“We’ve really shifted from thinking of cancer as a disease of a tissue,” Melanie Nallicheri, chief business officer and head of biopharma for Foundation, said. “Now, we’re thinking of cancer as a genomic disease.”
Nallicheri said she hopes the company’s diagnostic test, FoundationOne CDx, passes muster with both the Food and Drug Administration and the Centers for Medicare & Medicaid Services at about the same time.
If the latter agency grants approval, it would mean Medicare would pick up the cost of the test — likely to be several thousand dollars for each patient — for many Americans with cancer. How many would depend on whether CMS limited the test to certain types of tumors.
Foundation officials have said the test would be the first on the market to analyze all the changes in the DNA of a tumor and identify what precise treatment, approved or in clinical trials, would work best. The results would be compiled in a simple report.
“It’s like the ‘easy button’ for physicians,” said Nallicheri.
While the FDA has approved other diagnostic tests that identify a few genes linked to a particular cancer, Foundation officials said none comes close to assessing over 300 cancer-related genes. They say Foundation’s test would be particularly valuable in predicting how patients would respond to immunotherapy treatment. That approach seeks to boost the body’s immune response to combat cancer, potentially with fewer side effects than chemotherapy.
If Foundation’s diagnostic tool is approved, a doctor would take a biopsy of a tumor and send the tissue to the company’s labs in Massachusetts or North Carolina for genomic sequencing, according to a Foundation spokesman. The doctor would get the results back in less than two weeks and could precisely tailor the treatment to the disorder.
Most cancers caused by such genetic changes don’t yet have FDA-approved targeted treatments, Nallicheri said. But some experimental therapies are being tested in clinical trials, and the Foundation diagnostic tool would identify which of those might be available to patients.
Foundation was founded in 2010 by a team of top-tier Boston area scientists, including Eric Lander, founding director of the Broad Institute of MIT and Harvard, and biotechnology entrepreneur Alexis Borisy. They were among the first to recognize the importance of understanding the human genome in customizing medicines.
The biotech’s largest initial shareholder was the Boston venture capital firm Third Rock Ventures, which has taken several local biotechs public, including Bluebird Bio and Agios Inc. Foundation’s prominent early financial backers included Microsoft Corp. founder Bill Gates.
The company went public on the Nasdaq exchange in 2013.
Jonathan Saltzman can be reached at firstname.lastname@example.org