Utah's genealogy-powered cancer genetics helped create, and then legally reshape, the clinical market for inherited-risk testing.
Myriad Genetics BRCA Sequencing and Testing
work active confidence: Medium status: Draft updated 2026-08-11
Summary
Myriad Genetics was founded in 1991 by Mark Skolnick, a University of Utah geneticist working in cancer epidemiology. It proved that clinical genetic testing could be a serious business, then became the test case for whether naturally occurring genes could be privately controlled.
Impact
BRCA testing is among the most actionable forms of genetic information in medicine. People with pathogenic BRCA1 or BRCA2 variants face substantially elevated breast and ovarian cancer risks, and test results can change screening, prevention, surgery, and family counseling decisions.
The Myriad story also changed law and industry structure. It proved that clinical genetic testing could be a serious business, then became the test case for whether naturally occurring genes could be privately controlled. The Supreme Court ruling opened competition in genetic testing and reshaped the boundary between discovery and invention in molecular diagnostics.
What It Took
The hard problem was end-to-end translation before genomics was routine: use family studies to find disease-linked regions, sequence and validate genes, build a clinical lab, interpret variants, convince physicians and payers, and scale testing.
Utah's linked genealogy and medical-record infrastructure mattered here. Large multigenerational families and the Utah Population Database gave researchers a way to trace inherited cancer patterns with unusual power.
Utah Context
The Utah claim is not just that Myriad happened to be headquartered in Salt Lake City. The work grew from the University of Utah's human genetics environment, genealogical record advantages, and cancer-family research infrastructure. It is one of the clearest examples of Utah's records culture becoming biomedical leverage.
Caveats
Myriad's patent strategy is an ethical and scientific caveat, not a side note. Monopoly control kept prices high, limited competition, and restricted some research uses. The BRCA1 discovery race was also competitive, with major contributions outside Utah. Myriad's later proprietary variant database has remained controversial because shared interpretation data can improve patient care.
Evidence
- Source record: Association for Molecular Pathology v. Myriad Genetics · https://supreme.justia.com/cases/federal/us/569/576/
- Supreme Court opinion: Association for Molecular Pathology v. Myriad Genetics · https://supreme.justia.com/cases/federal/us/569/576/
- AMA Journal of Ethics: The Supreme Court on Myriad Genetics · https://journalofethics.ama-assn.org/article/supreme-court-myriad-genetics-synthetic-dna-patentable-isolated-genes-are-not/2015-09
- PMC: Gene Patenting — The Supreme Court Finally Speaks · https://pmc.ncbi.nlm.nih.gov/articles/PMC3777541/
- New York Times: My Medical Choice · https://www.nytimes.com/2013/05/14/opinion/my-medical-choice.html
See Also
Open Questions
- Which original announcements or papers best establish the BRCA1 and BRCA2 sequencing milestones?
- What public evidence best explains the development of BRCA test competition after 2013?