Myriad Genetics
Myriad Genetics, Inc. is an American molecular diagnostics company headquartered in Salt Lake City, Utah, that develops and commercializes genetic tests to assess disease susceptibility, guide treatment, and inform reproductive decisions.[1] Founded in 1991, it focuses on hereditary cancer, prenatal, oncology, and mental health applications, with flagship products including the BRACAnalysis CDx test for detecting BRCA1 and BRCA2 variants relevant to cancer therapy and risk.[2][3] The company achieved prominence through its early isolation and commercialization of BRCA genes but encountered major controversy over patenting isolated human DNA sequences, leading to the 2013 U.S. Supreme Court case Association for Molecular Pathology v. Myriad Genetics, Inc., which held that naturally occurring genes are products of nature ineligible for patent protection, while synthetic cDNA remains patentable.[4][5] This ruling dismantled Myriad's exclusive rights to BRCA testing, fostering competition and expanded access to genetic screening despite prior arguments that patents were essential for recouping research investments.[6] Myriad has since diversified its portfolio, reporting 11% revenue growth to $838 million in 2024 amid ongoing advancements in precision medicine.History
Founding and Early Years
Myriad Genetics was established in November 1991 in Salt Lake City, Utah, as a biotechnology company focused on identifying genes linked to hereditary diseases.[7] The founding team included geneticist Mark Skolnick, who had previously led genetic linkage studies using extensive Mormon family pedigrees at the University of Utah, along with Peter Meldrum and Kevin Kimberlin.[8][9] It originated as a spin-off from the University of Utah's Center for Genetic Epidemiology, formed to secure private funding for accelerating the positional cloning of breast cancer susceptibility genes, which public research grants could not adequately support at the time.[10] In its initial years, Myriad prioritized molecular diagnostics for hereditary cancers, leveraging Skolnick's expertise in human genetics.[11] The company's researchers isolated the BRCA1 gene in 1994 and the BRCA2 gene in 1995, marking significant advancements in understanding inherited breast and ovarian cancer risks.[12] These discoveries stemmed from collaborative efforts combining genomic mapping with targeted sequencing, building on earlier linkage data from large kindreds.[10] Myriad commercialized its first molecular diagnostic product, BRACAnalysis—a test for BRCA1 and BRCA2 mutations—in November 1996, enabling clinical assessment of hereditary breast and ovarian cancer risk.[13] This launch represented the company's shift toward precision medicine applications, with early revenue driven primarily by BRACAnalysis sales as it established itself in the emerging field of genetic testing.[7]Key Scientific Discoveries
Myriad Genetics' researchers achieved a major breakthrough in 1994 by isolating and sequencing the BRCA1 gene, determining its precise nucleotide sequence and enabling identification of mutations linked to elevated risks of hereditary breast and ovarian cancers.[14] This effort built on prior genetic linkage studies that mapped BRCA1 to chromosome 17q21, but Myriad's full sequencing provided the foundational data for mutation detection.[6] Mutations in BRCA1 are associated with lifetime breast cancer risks of 55-72% and ovarian cancer risks of 39-44% in carriers.[15] In 1995, Myriad contributed to the cloning and sequencing of the BRCA2 gene on chromosome 13q12-13, revealing additional mutations responsible for hereditary breast, ovarian, and other cancers, with carriers facing breast cancer risks of 45-69% and ovarian risks of 11-17%.[4] These sequences facilitated the creation of targeted diagnostic assays, distinguishing pathogenic variants from benign polymorphisms.[16] Building on these genomic insights, Myriad launched BRACAnalysis in 1996, the first commercial test to detect BRCA1 and BRCA2 mutations, which analyzed over 1 million patients by the early 2010s and informed clinical management guidelines.[17] Subsequent advancements include the development of MyRisk, a multi-gene panel assessing 48 hereditary cancer genes launched in 2013, integrating BRCA findings with risks from genes like TP53 and PTEN.[18] In 2021, Myriad introduced RiskScore, a polygenic risk assessment incorporating over 100 common variants to refine breast cancer risk estimates beyond monogenic testing, validated across diverse ancestries and recognized as a top advance in human genetics for improving risk stratification.[19] This tool complements BRCA discoveries by addressing the limitations of rare variant-focused testing, where polygenic scores can reclassify up to 23% of women into higher or lower risk categories.[20]Growth Through Acquisitions and Expansion
Myriad Genetics pursued growth by establishing international operations, beginning with the opening of a laboratory in Munich, Germany, in 2012 to support expanded genetic testing services in Europe.[7] This move facilitated broader access to its hereditary cancer tests outside the United States, aligning with increasing global demand for personalized medicine. Subsequent expansions included enhancements to its commercial infrastructure, such as investments in sales and marketing capabilities to drive adoption of tests like myRisk Hereditary Cancer.[21] A series of strategic acquisitions further diversified Myriad's portfolio into reproductive genetics, pharmacogenomics, and advanced oncology testing. In May 2016, the company acquired Sividon Diagnostics, a developer of the Prosigna breast cancer prognostic assay, for €35 million upfront with up to €15 million in additional payments contingent on milestones.[22] Later that year, on August 3, 2016, Myriad announced the acquisition of Assurex Health for $225 million in cash plus up to $185 million in milestones, integrating the GeneSight psychotropic medication guidance test to enter the mental health pharmacogenomics market; the deal closed on August 31, 2016.[23][24] In July 2018, Myriad completed the $375 million purchase of Counsyl, enhancing its capabilities in carrier screening and non-invasive prenatal testing.[25] Subsequent deals targeted consumer and precision oncology segments. On November 1, 2022, Myriad acquired Gateway Genomics for $67.5 million in cash, adding the SneakPeek early fetal sex determination test to broaden direct-to-consumer offerings.[26] In January 2024, the company agreed to acquire Precise Tumor, Precise Liquid, and associated laboratory operations from Intermountain Precision Genomics, closing the transaction on February 1, 2024, to strengthen its tumor profiling and liquid biopsy services for oncology.[27][28] These acquisitions collectively expanded Myriad's test volume and revenue streams, with pharmacogenomics and reproductive testing contributing to diversified growth amid challenges in core hereditary cancer segments.[29]Products and Services
Hereditary Cancer Risk Assessment
Myriad Genetics' hereditary cancer risk assessment centers on the myRisk Hereditary Cancer Test, a multi-gene panel launched on September 5, 2013, that analyzes germline variants in 48 genes linked to elevated risks for 11 hereditary cancer types: breast, ovarian, colorectal, uterine, pancreatic, gastric, prostate, melanoma, renal cell, lung, and adrenocortical carcinoma.[30][31] The test employs next-generation sequencing technology to identify pathogenic mutations, variants of uncertain significance (VUS), and other alterations, with a reported VUS rate below 1.0% for BRCA1 and BRCA2 genes based on internal validation data.[32][33] The myRisk panel expanded from Myriad's foundational BRCA1/2 testing, introduced in 1996 as the first commercial assay for hereditary breast and ovarian cancer risk, to encompass broader hereditary syndromes such as Lynch syndrome (via genes like MLH1, MSH2) and hereditary breast and ovarian cancer syndrome.[17] Validation studies, including a 2013 evaluation of an initial 25-gene version using next-generation sequencing, demonstrated high analytical sensitivity and specificity for detecting single-nucleotide variants, insertions/deletions, and large rearrangements across targeted genes.[33] Clinical utility data from over 2,000 patients presented at the 2017 American Society of Clinical Oncology meeting showed that results informed risk-reducing interventions, such as enhanced screening or prophylactic surgeries, in a significant proportion of cases.[34] In 2017, Myriad integrated RiskScore into myRisk for patients testing negative for pathogenic mutations in breast cancer-associated genes, providing a polygenic risk assessment that incorporates over 130,000 patient outcomes data across ancestries to estimate 5-year and lifetime breast cancer risks, reportedly twice as predictive as the Tyrer-Cuzick model alone.[35][32] This tool combines polygenic risk scores with clinical factors like family history and breast density, aiding personalized management; studies at the 2019 American Society of Clinical Oncology conference validated its ability to refine risk predictions in diverse populations.[36] Results typically return in 14 days, and clinical studies indicate management changes for over 50% of patients with negative pathogenic findings, emphasizing enhanced surveillance rather than dismissal of risk.[32] The test targets individuals with personal or family histories suggestive of hereditary cancer predisposition, per guidelines from organizations like the National Comprehensive Cancer Network, though Myriad reports that 1 in 4 unaffected women may qualify based on broader criteria.[37] Analytical performance includes robust detection of copy number variations, confirmed through validation involving hundreds of thousands of variants, ensuring reliability for guiding decisions on screening, chemoprevention, or surgery.[38] While primarily germline-focused, myRisk supports integration with somatic testing for comprehensive oncology insights, though its core value lies in proactive risk stratification.[39]Prenatal and Carrier Screening
Myriad Genetics offers prenatal and carrier screening through its women's health division, focusing on non-invasive tests to assess risks for chromosomal abnormalities and inherited genetic disorders. The company's primary products in this area are the Prequel® Prenatal Screen and the Foresight® Carrier Screen, which can be ordered together via a combination kit for comprehensive preconception or prenatal evaluation.[40][41][42] The Prequel® Prenatal Screen is a cell-free DNA (cfDNA) test that analyzes maternal blood to detect increased risk for fetal chromosomal conditions, including trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), trisomy 13 (Patau syndrome), and 22q11.2 microdeletion syndrome, along with optional fetal sex prediction. It employs proprietary AMPLIFY™ technology to amplify fetal DNA signals, enabling reliable results regardless of maternal body mass index (BMI) or ancestry, with a reported 99.9% rate of clear results on the first blood draw and a failure rate of 0.1%. The test can be performed as early as eight weeks' gestation, following a November 2024 update that extended its validated window from previous limits around 10 weeks; initial expansions for broader aneuploidy analysis across all 23 chromosome pairs were announced in February 2019. Results include individualized positive predictive values and residual risk estimates, supported by access to board-certified genetic counselors.[40][43][44] The Foresight® Carrier Screen identifies carriers of variants in up to 274 genes linked to serious autosomal recessive and X-linked conditions, using full-exon sequencing and copy number variant detection to achieve detection rates exceeding 99% for most genes across ethnicities. This pan-ethnic approach screens for high-prevalence, severe disorders, yielding the highest published at-risk couple detection rate of 1 in 22 in its universal panel, surpassing ethnicity-specific guidelines. Recommended preconceptionally or during pregnancy, it supports family planning by flagging risks for conditions passable to offspring if both partners are carriers, with peer-reviewed validation confirming its analytical performance. Like Prequel, it includes genetic counseling and is accessible via blood or saliva sample.[41][45] These screens emphasize equity in access, with financial assistance programs and no ancestry-based limitations, aiming to reduce disparities in prenatal genetic testing outcomes. Diagnostic confirmation via invasive procedures like amniocentesis is advised for positive screen results, as these tests indicate risk rather than definitive diagnoses.[46][40]Oncology and Other Specialized Tests
Myriad Genetics provides a range of oncology tests designed to guide cancer treatment decisions through tumor profiling, companion diagnostics, and prognostic assessments, distinct from hereditary risk screening. These include next-generation sequencing-based assays and gene expression analyses that identify actionable mutations, biomarkers, and tumor aggressiveness to inform personalized therapies such as PARP inhibitors and targeted agents.[47][48] The Precise Tumor test, acquired by Myriad in February 2024, is a comprehensive genomic profiling assay analyzing over 500 cancer-related genes via DNA and RNA sequencing, including immuno-oncology biomarkers like tumor mutational burden and microsatellite instability. It supports therapy matching across solid tumors by detecting variants for FDA-approved treatments and clinical trials.[49][28] BRACAnalysis CDx, an FDA-approved germline companion diagnostic launched in 2014 and expanded in subsequent years, detects deleterious BRCA1 and BRCA2 variants from blood samples to identify patients eligible for PARP inhibitors such as olaparib (Lynparza) in ovarian, breast, and pancreatic cancers. The test sequences the entire coding regions and adjacent introns, reporting variants with clinical significance for treatment selection.[50][51][52] MyChoice CDx, another FDA-approved companion diagnostic, evaluates homologous recombination deficiency (HRD) in advanced ovarian cancer tumors by combining BRCA1/2 sequencing with a genomic instability score derived from loss of heterozygosity, telomeric allelic imbalance, and large-scale state transitions. Positive HRD status indicates potential benefit from PARP inhibitors like niraparib (Zejula), with the test processing formalin-fixed paraffin-embedded tissue to yield a binary HRD-positive/negative result.[53][54][55] Prolaris, a prognostic test for prostate cancer, measures expression of 31 cell-cycle progression genes and 15 housekeeping genes in tumor biopsies to generate a score predicting 10-year metastasis risk and cancer-specific mortality. It aids in stratifying intermediate-risk patients for active surveillance versus aggressive treatment, with scores integrated into nomograms alongside PSA and Gleason data; clinical validation studies report improved risk stratification over standard clinicopathologic factors alone.[56][57] The Precise MRD test employs whole-genome sequencing on plasma to detect circulating tumor DNA with high sensitivity, particularly for low-shedding cancers, monitoring treatment response and early recurrence across multiple tumor types. Launched as part of Myriad's Precise Oncology solutions, it provides quantitative tumor fraction measurements to guide adjuvant therapy decisions.[58][59]Business Operations
Corporate Structure and Subsidiaries
Myriad Genetics, Inc., a Delaware corporation headquartered at 322 North 2200 West, Salt Lake City, Utah 84116, operates as the parent company of a network of wholly owned and partially owned subsidiaries focused on molecular diagnostics and precision medicine.[60] The company maintains a single operating segment, with operations reviewed by its President and CEO as the Chief Operating Decision Maker, encompassing genetic testing in oncology, women's health, and pharmacogenomics across CLIA-certified laboratories in the United States.[60] International activities are supported through dedicated sales channels in the United States and Japan, with other global markets served indirectly via subsidiaries.[60] The company's subsidiaries include several U.S.-based entities handling core laboratory, testing, and specialized services, as well as international operations for market expansion. Key U.S. subsidiaries comprise Myriad Genetic Laboratories, Inc. (Delaware, wholly owned), which supports primary genetic testing operations; Assurex Health, Inc. (Delaware, wholly owned), focused on pharmacogenomics; Gateway Genomics, LLC (Delaware, wholly owned), specializing in prenatal screening; and Myriad Women’s Health, Inc. (Delaware, wholly owned), derived from the 2018 acquisition and integration of Counsyl for hereditary cancer and carrier screening.[60] [61] Crescendo Bioscience, LLC (Delaware), which provides autoimmune diagnostics, is co-owned by Myriad Genetics, Inc. and its Japanese subsidiary Myriad Genetics GK.[60] International subsidiaries facilitate localized operations and regulatory compliance abroad. These include Myriad GmbH (Germany, wholly owned), Myriad Genetics GmbH (Switzerland, wholly owned), Myriad Genetics B.V. (Netherlands, wholly owned), and Myriad Genetics GK (Japan, wholly owned).[60] Notable divestitures have streamlined the structure, such as the 2021 sale of wholly owned subsidiary Myriad RBM, Inc. to IQVIA's Q2 Solutions for biomarker services, and the 2023 sale of Myriad myPath, LLC to Castle Biosciences.[62] [61] As of December 31, 2024, these subsidiaries collectively supported approximately 2,700 full-time equivalent employees engaged in sales, research, and administration.[60]| Subsidiary | Jurisdiction | Ownership | Primary Focus |
|---|---|---|---|
| Myriad Genetic Laboratories, Inc. | Delaware | Wholly owned | Genetic testing operations |
| Assurex Health, Inc. | Delaware | Wholly owned | Pharmacogenomics |
| Gateway Genomics, LLC | Delaware | Wholly owned | Prenatal screening |
| Myriad Women’s Health, Inc. | Delaware | Wholly owned | Hereditary cancer and carrier screening |
| Crescendo Bioscience, LLC | Delaware | Co-owned (with Myriad Genetics GK) | Autoimmune diagnostics |
| Myriad GmbH | Germany | Wholly owned | International operations |
| Myriad Genetics GmbH | Switzerland | Wholly owned | International operations |
| Myriad Genetics B.V. | Netherlands | Wholly owned | International operations |
| Myriad Genetics GK | Japan | Wholly owned | Japanese market sales and operations |