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Diagnostics Pipeline: FDA Opens Path for Blood Tests Assessing Genetic Cancer Risk

by | Jan 2, 2024 | Clinical Diagnostic Insider, Dx Pipeline-lir, FDA-lir

First marketing authorization of a blood test assessing genetic variants related to cancer opens the door for clearance of similar tests.

The U.S. Food and Drug Administration (FDA) recently granted marketing authorization for a blood test to help identify genetic variants associated with a higher risk of developing cancer, including in individuals who have been previously diagnosed with cancer. This is the first time the FDA has granted full clearance to such a test. In addition to granting de novo authorization for the new assay, the agency announced that it is also opening a pathway that manufacturers can use to bring similar tests to the US market.1

The diagnostic challenge

According to the National Cancer Institute (NCI), up to 10 percent of all cancers may be caused by inherited genetic changes. Coupled with consideration of family history, identifying whether a person has genes associated with a higher risk of certain cancers can thus be instrumental in screening and early detection. If genetic testing reveals the presence of inherited cancer-related gene variants, the person can take steps to reduce the risk of developing the disease—or be prioritized for further testing to catch the disease early if it has already developed.2

For example, individuals with inherited variants in the BRCA1 or BRCA2 genes that are associated with a higher risk of breast cancer can consider options to lower their risks, such as breast cancer screening at an early age, medications, and/or preventive surgery. In addition to prevention, detection of high-risk cancer genes may inform the treatment of patients who have already been diagnosed with cancer.  

The Invitae test

The FDA granted the de novo authorization to the Invitae Common Hereditary Cancers Panel, which is capable of detecting changes in 47 genes linked to hereditary cancers from a blood sample, including the following clinically significant genes:1

    • BRCA1 and BRCA2 associated with hereditary breast and ovarian cancer;

    • MLH1, MSH2, MSH6, PMS2, and EPCAM genes associated with a genetic condition known as Lynch syndrome that increases an individual’s risk of developing certain cancers;

    • CDH1 associated with diffuse gastric cancer and lobular breast cancer; and

  • STK11 associated with Peutz-Jeghers Syndrome, a rare disorder linked to higher risk of hereditary cancers in the digestive tract.

Genetic tests for assessing hereditary cancer risk have existed for decades. However, the Invitae test is the first to have undergone FDA review to prove its safety and efficacy, according to Lori Minasian, MD, deputy director of NCI’s Division of Cancer Prevention, in a recent NCI article.3  

According to the FDA, in granting de novo clearance, the agency relied on Invitae test performance validation data demonstrating equal to or greater than 99.0 percent accuracy for all variant types in over 9,000 clinical samples tested.1

The test is available by prescription only, with the blood sample collected at the patient’s doctor’s office and sent to a laboratory for testing. The FDA recommends that patients talk about their personal and family history with a genetic counselor or other healthcare professional for help in interpreting the results. The agency also notes that the Invitae test is not intended to evaluate all known genes associated with higher risks of cancer and that it’s important to communicate to patients that “genetics are not the only factor in development of cancer.”1  

The new FDA pathway

The significance of the FDA’s action extends beyond clearing the Invitae test. The agency also created a pathway for other test makers to follow in securing clearance for their own genetic risk blood testing products. Specifically, the FDA established “special controls” that must be met to meet requirements for labeling and performance testing. In combination with general controls, meeting the new special controls will provide a reasonable assurance of safety and effectiveness for these kinds of tests, the agency stated.1

In creating a new regulatory classification, the FDA has opened the 510(k) premarket process to manufacturers of future tests of the same type and intended use. Those test makers will now have the option of securing authorization by demonstrating the device’s substantial equivalence to a predicate device.


    1. https://www.fda.gov/news-events/press-announcements/fda-grants-first-marketing-authorization-dna-test-assess-predisposition-dozens-cancer-types

    1. https://www.cancer.gov/about-cancer/causes-prevention/genetics

    1. https://www.cancer.gov/news-events/cancer-currents-blog/2023/fda-blood-test-hereditary-cancer-risk


Here are the other key new laboratory testing and diagnostics product clearances that were announced in the period from mid-October to late November 2023:

New FDA Approvals and Emergency Use Authorizations (EUAs)

RocheEUA for new version of cobas® SARS-CoV-2 & Influenza A/B v2 RT-PCR assay to detect and differentiate SARS-CoV-2, influenza A, and influenza B RNA run on Roche’s cobas® 6800/8800 instruments
RocheBreakthrough device designation for Elecsys® Neurofilament Light (NfL) Chain test for multiple sclerosis
RocheClearance for cobas® HPV real-time PCR test for use on cobas® 5800 instrument
Foundation Medicine (Roche subsidiary)Approval for FoundationOne®CDx as companion diagnostic for AstraZeneca’s Truqap (capivasertib) in combination with Faslodex® (fulvestrant) for treating adult patients with hormone receptor-positive, human epidermal growth factor receptor 2 (HER2)-negative locally advanced or metastatic breast cancer with one or more PIK3CA/AKT1/PTEN-alterations after progression on at least one endocrine-based regimen in the metastatic setting or recurrence on or within 12 months of finishing adjuvant therapy
Ad Astra Diagnostics510(k) clearance for QScout point-of-care hematology system for white blood cell counts (WBCs), neutrophil-to-lymphocyte ratio, and differentiation of five types of mature WBCs as well as immature granulocytes
LetsGetChecked510(k) clearance for Simple 2 Test, first diagnostic test for chlamydia and gonorrhea with at-home sample collection to receive marketing authorization
Zymo Research510(k) clearance for DNA/RNA Shield SafeCollect Saliva Collection Kit for COVID-19 molecular testing
Agilent TechnologiesClearance for PD-L1 IHC 22C3 pharmDx as companion diagnostic assay to identify gastric or gastroesophageal junction adenocarcinoma patients for combination treatment with Merck’s KEYTRUDA® (pembrolizumab) checkpoint inhibitor
ACON Laboratories510(k) clearance for Flowflex® COVID-19 Antigen Home Test, which originally received EUA clearance in 2021
AbbottClearance for Alinity m high risk HPV assay
AbbottClearance for Abbott RealTime IDH1 Assay as companion diagnostic for Servier Pharmaceuticals’ Tibsovo (ivosidenib) in patients with relapsed or refractory myelodysplastic syndrome
Inova Diagnostics (subsidiary of Werfen)510(k) clearance for Aptiva® Connective Tissue Disease (CTD) Essential reagent
OwletDe Novo clearance for Dream Sock® over-the-counter medical grade pulse oximeter for infants

New CE marks and global certifications

Notable European CE certifications announced during the period:

New Approvals in Europe

RocheElecsys® HBeAg quant immunoassay for qualitative and quantitative detection of hepatitis B e antigen (HBeAg) in human serum and plasma
RocheElecsys® Anti-HEV IgG immunoassay to detect IgG antibodies to hepatitis E virus in human serum and plasma
RocheElecsys® Anti-HEV IgM immunoassay to detect IgM antibodies to hepatitis E virus in human serum and plasma
RevvityEONIS Q system molecular testing platform for spinal muscular atrophy and severe combined immunodeficiency in newborns
Sansure BiotechSurelite 8 automated chemiluminescence immunoassay system
Sansure BiotechSurelite 16 automated chemiluminescence immunoassay system
Cerca BiotechRNXtract® kit using magnetic beads for RNA extraction from formalin-fixed paraffin-embedded tissue
CleanNAClean Cell Free DNA Kit using magnetic beads to extract cfDNA from 1 mL of human plasma
ARUP LaboratoriesAAV5 DetectCDx electrochemiluminescence antibody assay as companion diagnostic to identify patients for treatment with BioMarin Pharmaceutical’s ROCTAVIAN (aloctocogene roxaparvovec-rvox) gene therapy for severe hemophilia A
Yourgene HealthYourgene® DPYD genotyping assay to identify cancer patients with dihydropyrimidine dehydrogenase deficiency

Other international clearances announced during the period:

DinfectomeChinaDIFSEQ-200 compact desktop sequencer for next-generation sequencing-based testing

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