By Hanna Stockel '25
There I was, standing with my family, as the doctor said aloud, “If only we had known sooner, the outcome could have been different.” The truth within the doctors’ words was undeniable: early detection would have changed everything. After my mother’s battle with breast cancer, my aunts' struggle with thyroid cancer, and my grandfather’s death from prostate cancer, it became evident these chronic illnesses stemmed from genetic predisposition. This pattern was clear and preventable with a proper procedure; detecting the risks of my family's genetic predispositions could have prevented unnecessary suffering. With the power of genetic testing and awareness, my family's history of chronic illness could have had a better outcome.
Unfortunately, life-saving technology has not become available without legal obstacles. The Supreme Court set the precedent for genetic testing in Association for Molecular Pathology v. Myriad Genetics, Inc.. The Association for Molecular Pathology led this case with several other medical associations, doctors, and patients, arguing that patents for Myriad Genetics, an American genetic testing company, over Breast Cancer One (BRCA1) and Breast Cancer Two (BRCA2) genes were prohibited. (1) These two genes produce proteins that repair damaged DNA; however, a mutation in either one increases the risk of developing cancers in the breast, prostate, and ovaries. (2) Myriad Genetics was the first to successfully isolate the two genes from a DNA sequence; thus, they pursued patent control over these genes, including their research and genetic testing.
The Association for Molecular Pathology contested this on the grounds that patenting the BRCA1 and BRCA2 genes violated the 35 USC § 101 Patent Act. (3) This act allows anyone who invents or discovers any “new and useful process, machine, manufacture, or composition of matter, or any new and useful improvement thereof,” to obtain a patent. (4) The argument against Myriad was that these two genes discussed are products of nature and, therefore, cannot be patented. (5) Past legal precedent against laws on natural substances and phenomena supported this argument. (6)
The main issue in court was whether a gene patent violates 35 USC § 101. Myriad Genetics argued that the isolation of the gene would constitute patent eligibility; the Association for Molecular Pathology disagreed. After experiencing a lawsuit in 2010 challenging the original patents on BRCA1 and BRCA2, where the Southern District Court of New York ruled in favor of the petitioners, Myriad appealed the decision to higher-level courts. With repeated appeals, this court case rose to the Supreme Court which, by unanimous decision, reasoned that naturally occurring human genes cannot be patent-eligible. (7)
Justice Clarence Thomas wrote for the court, “For the reasons that follow, we hold that a naturally occurring DNA segment is a product of nature and not patent eligible merely because it has been isolated, but that cDNA is patent eligible because it is not naturally occurring.” (8) He explained that while § 101 of the Patent Act applies to new and valuable inventions and findings, the court holds that genetics within the technology violates 35 USC § 101 since there is a limit to laws of nature and natural phenomena, including BRCA1 and BRCA2.
Association for Molecular Pathology v. Myriad Genetics, Inc. goes beyond the case of Myriad Genetics and its petitioners since it rules that naturally occurring human genes cannot be patented. This element removes the monopolistic control over essential genetic information and testing.
However, Myriad Genetics did have supporting points to their case. For innovation and competition, Myriad Genetics argued that allowing patents on isolated DNA sequences would drive industries to invest in this type of high-level research. The patent would provide financial repercussions for the investments made through research, technology, equipment, and clinical trials. With this available recouping of investments, companies can recover from these costs, lessening the chance that research is performed. Myriad also argued that, if able to monopolize these BRCA genes, their testing would be highly accurate and controlled, benefiting the patients by providing reliability and standardization. The case called on past precedents on patent law cases such as Merck & Co. v. Olin Mathieson Chemical Corporation (1958) and Diamond V. Chakrabarty (1980), in which it was ruled that living organisms can be patented if humans altered them from their natural state, (9) and that a purified product can be patented if its isolation created a new distinct product different from its naturally found form, respectively. (10) From this, Myriad argued in court that isolated DNA was separate from naturally occurring DNA and should be granted the patent based on this logic.
While Myriad Genetics presented these well-perceived arguments, further analysis shows that the reasoning and logic regarding Myriad’s actions were flawed. In brief terms, unlike in Merck & Co. v. Olin Mathieson, gene isolation differs from creating a new product and separates from Diamond V. Chakrabarty. Even when isolated from the body, the BRCA1 and BRCA2 genes were not different from their naturally attached state.
The court's decision boosted innovation within the biotechnology market since companies can develop and offer genetic testing. Before the ruling, Myriad had sole control over the BRCA1 and BRCA2 genes, enabling them to set high prices and restrict access to those who could not afford this potentially life-saving exam. (11) Now, companies like Myriad must offer these tests and information on these genes. This holding creates a fair market while giving more options to users needing these tests.
Furthermore, the Association for Molecular Pathology v. Myriad Genetics, Inc. ruling freed researchers from legal constraints and the fear of patent infringement that hindered the study of natural genes. This ruling drove advancements in genetic testing and treatment. For example, 23andMe began to offer direct-to-consumer genetic testing that scanned for BRCA genes and other health-related information for a low cost to the consumer; this allows individuals to have easier access to early detection risks and take proactive measures. (12) Other companies, such as Ambry Genetics, have developed multi-gene panels that test for more than just BRCA, including other genes associated with hereditary cancers such as PALB2, TP53, and CHEK2. (13) The innovation and developments from the Myriad ruling have greatly expanded the scope of genetic testing.
The ruling in this Supreme Court allowed free enterprise within genetic testing. Because of this, these exams have become more affordable, lessening the price for a BRCA1 and BRCA2 exam from $4000 to as low as $250 (14); this brings the effect of improved access to preventative healthcare and knowledge of one’s genetic predispositions. With these increased options, members of society can now have the choice of what to test for genetically, with options of varying cost, convenience, and personal needs.
Association for Molecular Pathology v. Myriad Genetics, Inc. has profoundly impacted biotechnology, patent law precedent, and public health. The Supreme Court has paved the way for access to genetic testing, benefiting both companies in terms of competition and individuals who, like my family, can now prevent struggle from unanticipated health challenges. Within the pivotal moment of combining ethics, law, and medicine, innovation has been pushed toward further research into genetics and synthetic biology. The importance of this case cannot be overlooked. It upheld the needs of both the general public and freedom within scientific research, reminding the public of the critical role that the law plays in all aspects of life. It emphasizes that these court decisions extend beyond precedent for companies- they affect your family, health, and future.
I urge all individuals to pay attention to the constant change in the medical field and stay vigilant on these issues. As new technologies are created and research further develops, we must ensure that legal challenges, similar to the Myriad genetic case, end with favorable outcomes for the biotech fields and public interest.
As I think back on my family’s heart-wrenching battles with cancer, I am reminded of how vital early detection can be. Ignorance of one’s genetic risks will never be worth the agony of experiencing loved ones suffer. By supporting the Myriad decision and embracing genetic testing opportunities, we can honor those we have lost and those who have suffered by empowering ourselves to be one step closer to managing our health and preventing future despair.
Endnotes
Assoc. for Molecular Pathology v. Myriad Genetics, Inc., 569 U.S. 576 (2013). https://tile.loc.gov/storage-services/service/ll/usrep/usrep569/usrep569576/usrep569576.pdf.
National Cancer Institute, What are BRCA1 and BRCA2? July 19, 2024. https://www.cancer.gov/about-cancer/causes-prevention/genetics/brca-fact-sheet#what-are-brca1-and-brca2
Assoc. for Molecular Pathology v. Myriad Genetics, Inc., 569 U.S. 576 (2013). https://tile.loc.gov/storage-services/service/ll/usrep/usrep569/usrep569576/usrep569576.pdf.
USPTO, 2104 Requirements of 35 U.S.C. 101 [R-07.2022], https://www.uspto.gov/web/offices/pac/mpep/s2104.html#:~:text=101%20Inventions%20patentable.,35%20U.S.C.
Assoc. for Molecular Pathology v. Myriad Genetics, Inc., 569 U.S. 576 (2013). https://tile.loc.gov/storage-services/service/ll/usrep/usrep569/usrep569576/usrep569576.pdf.
ACLU, AMP v. Myriad: The Fight to Take Back Our Genes.
https://www.aclu.org/news/privacy-technology/the-fight-to-take-back-our-genes
Assoc. for Molecular Pathology v. Myriad Genetics, Inc., 569 U.S. 576 (2013). https://tile.loc.gov/storage-services/service/ll/usrep/usrep569/usrep569576/usrep569576.pdf.
Ibid.
Merck & Co. v. Olin Mathieson Chemical Corporation, 253 F. 2d 156 - Court of Appeals, 4th Circuit 1958. https://scholar.google.com/scholar_case?case=9565897413783842026&q=Merck+%26+Co.+v.+Olin+Mathieson+Chemical+Corporation+(1958)&hl=en&as_sdt=40006&as_vis=1.
Diamond v. Chakrabarty, 447 U.S. 303 (1980). https://tile.loc.gov/storage-services/service/ll/usrep/usrep447/usrep447303/usrep447303.pdf.
Lara Cartwright-Smith, Patenting Genes: What Does Association for Molecular Pathology v. Myriad Genetics Mean for Genetic Testing and Research?, 2014.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3982540/#:~:text=While%20asserting%20these%20patents%20to,is%20currently%20priced%20at%20%244%2C040.
23andMe, Homepage. https://www.23andme.com/
Ambry Genetics, About Hereditary Cancer, 5-10% Cancer is hereditary. https://www.ambrygen.com/patients/cancer.
Basser Center, Insurance and Costs. https://www.basser.org/genetic-testing-counseling/insurance-costs.
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