FDA Breaks Ground with Historic Approval: DNA Test for Dozens of Cancer Types’ Predisposition Receives First-Ever Marketing Authorization

In a groundbreaking development, the U.S. Food and Drug Administration (FDA) has granted de novo marketing authorization for the Invitae Common Hereditary Cancers Panel, a revolutionary in vitro diagnostic test designed to detect a wide range of genetic variants associated with an elevated risk of developing certain cancers.

This pioneering test also has the ability to identify potentially cancer-associated hereditary variants in individuals who have already been diagnosed with cancer. It stands as the first of its kind to receive FDA marketing authorization and evaluates DNA extracted from a simple blood sample, scanning for variants in 47 genes linked to an increased risk of specific cancer types.

Jeff Shuren, M.D., J.D., the director of the FDA’s Center for Devices and Radiological Health, praised this innovative test, highlighting its capacity to assess multiple genes in a single test through next-generation sequencing.

This cutting-edge approach not only offers sensitivity and speed but also empowers individuals with valuable information about their health, including potential predispositions for specific cancers. Such insights enable physicians to provide tailored monitoring and potential therapies based on the identified variants.

Cancer, a disease characterized by uncontrolled cell division and tissue invasion, manifests in over 100 documented types, making it the second leading cause of death in the United States, just behind heart disease. Given its devastating impact, the Invitae Common Hereditary Cancers Panel represents a vital tool in identifying inherited causes of various cancer types.

Patients are encouraged to engage with healthcare professionals, such as genetic counselors, to delve into their personal and family history of cancer. This context proves invaluable in comprehending test results. It’s important to note that this test doesn’t aim to identify or evaluate all known genes associated with cancer predisposition.

The specimen collection process is straightforward, with samples gathered at the point of care, typically a doctor’s office, and then sent to a laboratory for analysis. Clinical interpretation of the variants relies on a wealth of evidence from published literature, public databases, prediction programs, and Invitae’s curated variants database, aligning with criteria set by professional organizations or accredited boards.

Notably, some of the most clinically significant genes that the test assesses include BRCA1 and BRCA2, linked to hereditary breast and ovarian cancer syndrome, Lynch syndrome-associated genes (MLH1, MSH2, MSH6, PMS2, and EPCAM), CDH1 (associated with hereditary diffuse gastric cancer and lobular breast cancer), and STK11 (linked to Peutz-Jeghers Syndrome).

The FDA meticulously reviewed the Invitae Common Hereditary Cancers Panel under its De Novo premarket review pathway, which applies to low- to moderate-risk devices of a new type. Rigorous validation procedures, including testing on over 9,000 clinical samples, demonstrated accuracy exceeding 99.0% for all tested variant types.

While the benefits of this test are substantial, certain risks must be acknowledged. These include the potential for false positive and false negative results, as well as the risk of misinterpretation. False negatives might instill a false sense of security, leading to inadequate surveillance and clinical management, while false positives could trigger inappropriate healthcare and lifestyle decisions with their own negative consequences.

Moreover, it’s important to recognize that genetics are just one facet of cancer development, and a negative test result doesn’t eliminate all risk. Nevertheless, these risks are mitigated through analytical performance validation, clinical validation, and appropriate labeling of the test.

In addition to the De Novo authorization, the FDA has established special controls defining requirements related to labeling and performance testing. Stringent criteria, such as accuracy standards, are set to ensure safety and effectiveness, marking a significant advancement in cancer detection and prevention.

This regulatory milestone creates a new classification, potentially expediting the approval process for future devices of the same type with similar intended use, ultimately saving time and resources for developers compared to other review pathways.

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