SAN FRANCISCO – At the 41st Annual JP Morgan Healthcare Conference, Myriad Genetics executives highlighted three new products coming in 2023 across its women's health and oncology segments.
In its women's health business, the Salt Lake City-based firm is preparing for the Q3 launch of its FirstGene 4-in-1 prenatal screening test covering noninvasive prenatal screening, carrier screening, fetal recessive status, and feto-maternal blood compatibility. During the company's presentation, Myriad CSO Dale Muzzey called the test a "transformative product in the reproductive space," due to its faster turnaround time, fewer inconclusive fetal recessive results, and a lower cost compared to alternative methods. It also has three times the number of genes compared to BillionToOne's Unity prenatal screening test, a competitor in the space, according to Muzzey.
Two components of the test, the NIPS screening for common aneuploidies and the carrier screening for common conditions in the mother, are guideline-based recommended screening, and reimbursed by insurers and can be billed on the same date of service, Muzzey said.
The fetal recessive status component of the test can look at the fetal genome to determine whether the fetus is affected by a condition, a carrier of the condition, or normal, while the feto-maternal blood compatibility part of the assay can determine whether the mother needs to take an immunosuppressant, he said.
Muzzey emphasized that the test only requires one blood sample and no testing of the father to return results. The test utilizes Myriad's Amplify technology for its Prequel prenatal screening assays to increase the fetal DNA fraction of a sample to provide better visibility into the genome.
On the oncology side of the business, Myriad CEO Paul Diaz said Myriad is filling out the rest of its product portfolio with the launch of its Precise Liquid molecular profile test and Precise MRD monitoring test. Precise Liquid is a 523-gene comprehensive genomic profiling test that could serve as a standalone product or as a reflex test if the solid tumor is insufficient and "rounds out" the firm's CGP offering. Myriad launched Precise Tumor, which looks at the same number of genes but includes RNA analysis to detect fusions in solid tumors, last year. Precise Liquid is expected to launch in the second half of 2023, Muzzey said.
According to Muzzey, the Precise MRD test uses whole genome sequencing to interrogate tumors, detect recurrence earlier, and help guide treatment decisions. Compared to an undisclosed competitor MRD test, the assay looks at 30 times more sites on the genome, has a 10 times lower tumor-fraction detection threshold, and looks at 100 times more of the cancer genome, he said.
In developing the high-definition test, Myriad tried to pursue a tumor-informed approach to ensure optimal sensitivity and specificity, he added. The tumor-informed approach also "builds upon competencies we currently have in house," such as tumor and normal sample preparation and sequencing, as well as bioinformatic identification of somatic variants, which are covered in Myriad's MyChoice CDx assay, and cell-free DNA isolation with target-and-capture and deep sequencing, found in the FirstGene test.
Looking at the whole genome instead of the exome also allows the test to track more sites, leading to higher sensitivity in more tumors and earlier detection of recurrence, Muzzey said, adding this is particularly important in tumors without high tumor mutational burden..
Internal data shows that the test has greater than 99 percent sensitivity at .01 percent tumor fraction and works consistently across tumor types, such as colorectal, endometrial, and ovarian cancers, although Muzzey said Myriad is working to lower the detection threshold to .0001 percent.
Myriad is "deep in negotiations with a leading cancer center" for a pilot study for the test and will launch the assay as a research-use-only test, run entirely in house, in mid-2023. Also in 2023, the company plans to submit an analytical validation for peer review, begin a retrospective clinical validation and prospective clinical validity study with Intermountain Healthcare and other institutions, and apply the test for use with biopharma partners. Moving to 2024, Myriad will launch the assay as a laboratory-developed test with a focus on BRCA-related cancers, publish its clinical validity studies, submit the test to Medicare for reimbursement, begin a clinical utility study, and scale its laboratory operations.
Muzzey added that the company is also planning to move its panel-based screening to an exome platform to make them more scalable and more efficient and to facilitate growth of those panels.
Business growth and market opportunity
Also during his presentation, Diaz emphasized the momentum of the firm's GeneSight pharmacogenomic test, which has seen "exceptional growth," with volumes increasing 40 percent year over year in 2022. In the coming year, the firm's goals are to increase payor coverage and decrease the test's no-pay rate. The GeneSight model, which focuses on digital engagement and inside sales, will be commercially extended into Myriad's other business channels, first with women's health.
Diaz also covered the $67.5 million Gateway Genomics acquisition, announced in November. The deal helps extend Myriad's market reach and will allow Myriad to convert customers of Gateway's SneakPeek Early Gender DNA Test to prenatal and cancer screening patients in a cross-selling opportunity, he said.
In 2022, the firm saw traction in the hereditary cancer business and a nearly 20 percent increase in the average selling price of its tests. Myriad is targeting at least 10 percent annual organic revenue growth by 2024, he added.
He added that Myriad has been "playing catch-up" in its oncology business compared to its competitors, but the firm has made a lot of progress in the last 12 to 18 months. Oncology has been an area where Myriad "historically gave up leadership," but Diaz said he believes the firm can regain some of that share in the future.