A New Wave of Early Cancer Diagnostics is On Its Way
Recent studies in early diagnostics underline just how much focus medical technology companies are making on developing different modalities for very early cancer diagnosis. Here are just some recent examples.
Pancreatic Cancer Detection Using a Breath Test
Researchers published in the British Journal of Surgery, or BJS, a possible breath analysis test that might be able to detect pancreatic cancer earlier. Like most cancers, when detected late, pancreatic cancer has a very poor prognosis. The researchers studied volatile organic compounds in breath samples of patients with benign pancreatic disease and others with a normal pancreas. The tests found 12 organic compounds that indicated pancreatic cancer. The authors wrote, “The final application of breath testing in the patient care pathway will depend on test sensitivity and specificity in large multicenter clinical trials, and its performance in early pancreatic cancer and high-risk groups.”
The research was supported by the National Institute for Health Research (NIHR), the NIHR Diagnostic Evidence Co-operative London at Imperial College Healthcare NHS Trust. All of the researchers are with the Department of Surgery and Cancer, Imperial College of London (UK).
Early Detection of Melanoma
Research by PhD candidate Pauline Zaenker at Edith Cowan University (ECU) in Australia, developed the possibility of using a blood test to detect melanoma in its early stages. In a statement, she said, “Patients who have their melanoma detected in its early stage have a five-year survival rate between 90 and 99 percent, whereas if it is not caught early and it spreads around the body, the five-year survival rate drops to less than 50 percent.”
Currently, melanoma is detected by a visual scan of the skin by a doctor, with suspicious skin lesions biopsied and sent to a pathology lab. Statistically, about three out of four biopsies are negative. Zaenker and her colleagues developed a blood test that detects the autoantibodies the body creates in response to melanoma. Zaenker said in a statement, “The body starts producing these antibodies as soon as melanoma first develops, which is how we have been able to detect the cancer in its very early stages with this blood test.”
The research was published in the journal Oncotarget. A clinical trial to validate the results is being planned.
FDA Approved 23andMe’s Direct-to-Consumer Cancer Test
In May, The U.S. Food and Drug Administration (FDA) approved the first-ever direct-to-consumer genetic test for cancer risk. It allows Mountain View, California-based 23andMe to market its cancer test to customers for specific variations related to risk of breast, ovarian and prostate cancer.
It’s important to note that this is not a broad screening test available to the public without a prescription from a physician. It is for three genetic variants found on the BRCA1 and BRCA2 genes most often found in patients of Ashkenazi Jewish descent. Approximately 1 in 40 individuals in this population have one of these three variants. Women with one of the variants have a 45 to 85 percent risk of developing breast cancer by age 70.
“This test provides information to certain individuals who may be at increased breast, ovarian or prostate cancer risk and who might not otherwise get genetic screening, and is a step forward in the availability of DTC genetic tests,” said Donald St. Pierre, acting director of the FDA’s Office of In Vitro Diagnostics and Radiological Health, in a statement. “But it has a lot of caveats. While the detection of a BRCA mutation on this test does indicate an increased risk, only a small percentage of Americans carry one of these three mutations and most BRCA mutations that increase an individual’s risk are not detected by this test. This test should not be used as a substitute for seeing your doctor for cancer screenings or counseling on genetic and lifestyle factors that can increase or decrease cancer risk.”
Mammoth Biosciences Working to Diagnose Diseases Using CRISPR
In April, Mammoth Biosciences, based in San Francisco, officially launched to develop CRISPR technology for clinical diagnostics. CRISPR is a gene-editing technique that allows researchers to quickly and precisely edit DNA. In drug development, it utilizes a bacterial protein called Cas9. Mammoth, however, is not a drug development company. The company is attempting to develop point-of-care diagnostic tests by using CRISPR. Wired speculates that Mammoth is likely to use Cas12a, formerly known as Cpf1.
Now the company is interested in partnering with universities or corporations that have potential diagnostic biomarkers that can be utilized in its CRISPR program. Trevor Martin, Mammoth’s chief executive officer, told TechCrunch, the plan is to use its device-free system “to bring these biomarkers the last mile or even the last foot into the healthcare system. We’re really excited to partner with these companies to use our platform. [Mammoth] enables these awesome biomarkers to actually get used.”
Illumina and Loxo Oncology Team to Develop Pan-Cancer Companion Diagnostics
Also in April, Illumina announced it was teaming up with Loxo Oncology to develop and commercialize a multi-gene panel for broad cancer profiling. It will seek approval for a version of Illumina’s TruSight Tumor 170 as a companion diagnostic for Loxo Oncology’s larotrectinib and LOXO-292.
TruSight Tumor 170 is a next-generation sequencing test that tests point mutations, fusions, amplifications and splice variants in 170 genes linked to common solid tumors. The companion diagnostic version of the TruSight Tumor 170 would let independent local laboratories provide referring physicians with genomic information that can assist in selecting the best medications for specific cancers. The test will operate on Illumina’s NextSeq 550Dx platform.
Loxo’s larotrectinib is a drug that targets NTRK gene fusions. And LOXO-292 targets RET gene alterations. Both drugs have potential applications across tumor types. Larotrectinib has received Breakthrough Therapy Designation, Rare Pediatric Disease Designation and Orphan Drug Designation by the U.S. Food and Drug Administration (FDA). In November 2017, Loxo and Bayer inked an exclusive global collaboration to develop and commercialize the drug, as well as LOXO-195, a next-generation TRK inhibitor. Bayer and Loxo Oncology will develop the two products jointly.
LOXO-292 is currently being evaluated in a Phase I trial. The drug is being studied in cancers that harbor abnormalities in the rearranged during transfection (RET) kinase. These fusions are seen in about 2 percent of non-small cell lung cancer (NSCLC), 10 to 20 percent of papillary thyroid cancer, and subsets of colon and other cancers.