The Ethics of Patenting Genetic Sequences: Balancing Innovation and Access

Lana El-Etr, Contributing Member 2024-2025

Intellectual Property and Computer Law Journal

I. Introduction

Between any two humans, all but approximately 0.1% of their genetic makeup is identical.[1] Imagine a world where the building blocks of life—that 0.1% of our unique genetic code—could be owned, patented, and controlled by a select few. As scientific breakthroughs in genetics and genomics pave the way for revolutionary innovations, we must confront a crucial ethical question: Should we allow the patenting of our genetic sequences, or does it risk limiting access to the very information that defines us as human beings? The debate over whether to prioritize innovation or accessibility in genetic patents is more pressing than ever.

This article explores the ethical implications of patenting genetic sequences, focusing on striking a balance between encouraging innovation in the genetic field and ensuring access to genetic information and treatments. Part II provides background on the legal framework and stakeholders involved in genetic patenting. Part III discusses the ethical dilemmas associated with genetic patents, including their impact on research, access to treatments, and public health. Finally, Part IV concludes by suggesting potential reforms and future directions for maintaining such a complex balance.

II. Background

Overview of Gene Patenting

Gene patenting is the patenting of genetic sequences such as DNA, RNA, and alternative forms of RNA. [2] Gene patents cover three general types of invention: (1) diagnostics, (2) compositions of matter, and (3) functional uses.[3] Diagnostic patents cover testing various genetic differences and are commonly referred to as “disease gene patents” because they are based on the characterization of one’s genetic makeup at a disease-associated locus specifically for diagnostic or prognostic purposes.[4] These patents generally encompass all known testing methods that are used to observe a genetic variation and its associated phenotypic effect, such as the presence of a disease.[5]

Patents for compositions of matter encompass chemicals and materials, including isolated and purified genes like cDNA, as well as a variety of derivative products.[6] These derivatives include recombinant proteins, viral vectors, gene transfer therapies, and animal models where the patented gene has been inserted or knocked out.[7]

Lastly, functional use patents are an emerging class of patents that claim the functional use of genes based on the discovery of various roles genes play in the disease, bodily functions, cellular functions or pathways, and small molecule drugs used to up- or downregulate the gene.[8] It is important to know that small molecule drugs are typically not actual gene products but are other types of chemicals that are linked to gene functioning, making the drugs likely patentable as unique chemical entities instrumental for therapy.[9]

Stakeholders

There are several stakeholders in the gene patenting industry: (1) biotechnology and pharmaceutical companies: (2) academics, such as researchers and scientists; (3) patients and patient advocacy groups; (4) healthcare providers; (5) regulatory agencies; (6) legal professionals; and (7) bioethicists and policy makers.[10] Each of these stakeholders is addressed in turn:

1. Biotechnology and pharmaceutical companies are the primary players in the commercialization of genetic research, investing heavily in the development of new genetic tests, drugs, and therapies.[11] Gene patents are essential to these companies because they grant them exclusive rights to use, manufacture, and sell their patented genetic inventions in an industry worth approximately 22 billion dollars.[12]
2. Researchers and scientists have used gene patents, trademarks, and copyrights to protect their creations as well as inspire innovation. Patenting their work can provide recognition, financial awards, and potential partnerships in the biotechnology and pharmaceutical industry.[13]
3. Patients and patient advocacy groups represent those directly impacted by the outcomes of gene patenting, specifically regarding genetic tests and potentially life- altering treatment. They play a crucial role in voicing concerns about how these patents affect the affordability, availability, and overall quality of healthcare services.[14]
4. Healthcare providers, including physicians, hospitals, and diagnostic labs, aim to offer accurate and effective treatment options to their patients. Because of the rapidly growing and evolving world of genetic testing, patented genetic tests can be used to better understand a patient’s reaction to a drug or the likelihood of developing a certain disease.[15]
5. Regulatory agencies, such as the United States Food and Drug Administration (FDA) and the United States Patent and Trademark Office (USPTO), are responsible for approving gene patents and tests that meet safety and efficacy standards.[16] The USPTO’s goal is to encourage innovation without overstepping boundaries that could stifle or harm the public interest.[17] On the other hand, the FDA regulates the commercialization of genetic tests to ensure they are safe and effective for patient use.[18]
6. Legal professionals, including attorneys, patent agents, and intellectual property professionals, assist in securing and defending patents, negotiating licenses, and resolving trademark or patent disputes.[19]
7. Bioethicists and policymakers are responsible for analyzing the moral and ethical implications of gene patenting, then crafting legislation and regulations that define what subject matter is patentable in the genetic field.[20] With the increasing need for genetic testing and diverse clinical trials, regulations must be established that ensure individuals’ rights are protected while innovation and scientific progress is not hindered.

III. Discussion

Ethical Implications

The patent system’s overall goal is to promote the public interest and to provide a fair reward to inventors by offering protection in return for disclosure of their inventions. DNA patents hinder access to health care and slow down medical research because they can lead to higher costs for diagnostic tests and treatments.[21] Since there are many discovered genetic markers and many patented ways to test these markers, it is common for genetic testing to be excluded from insurance, often rendering them unaffordable or unavailable to patients.[22] Moreover, the criteria set out in 35 U.S.C. §101, 102, and 103 for claiming a patent—requiring the invention to be “novel, inventive, and useful”—is often too vague and insufficiently precise when applied to DNA sequences.[23] This vagueness becomes problematic because there are multiple ways rights can be asserted over DNA in patent applications, leading to challenges in determining whether these sequences truly meet the established patentability standards. Furthermore, since patents protect all potential uses of a DNA sequence, initial discoverers may be unjustly rewarded, further stifling research and restricting the development of new applications for the gene. Researchers may also be deterred by the substantial legal barriers and licensing fees associated with patented genes. [24]

Additionally, other ethical concerns are reflected on an international scale, affecting both the public and private sectors in terms of accessibility and affordability. Gene patents often result in monopolies over critical genetic technologies and diagnostic tools, which can lead to increased prices and limited access. [25] Wealthier nations and institutions are better equipped to pay for licensing fees, conduct extensive research and clinical trials, and access patented genetic information. Because of this, a significant number of gene patents are filed by companies based in wealthier countries that have the resources to invest in research and development.[26] As a result, these already wealthy countries and companies then control the use, application, and availability of these patents globally. This leads to poorer countries having limited control over genetic resources and relying on foreign entities for access to genetic technologies which ultimately widens the gap in healthcare quality and deepens economic inequality. For example, valuable genetic data, typically not represented in published clinical trials, can be found in populations of developing countries. These genetic resources are often exploited by wealthy countries and companies without providing individuals fair compensation, limiting the ability of the country to benefit economically or medically from its own genetic resources.[27]

Notable Supreme Court Decisions

In light of the complex ethical implications of gene patenting, the United States Supreme Court has done its best to clarify what eligible and patentable genetic subject matter is. The most notable cases in this field are Mayo Collaborative Services v. Prometheus Laboratories and Association for Molecular Pathology v. Myriad Genetics, Inc. In Mayo, Prometheus Laboratories patented a method of testing for accurate dosages of thiopurine drug treatments to treat patients with autoimmune diseases, that relied on analyzing concentrations of genetic metabolites.[28] After Prometheus Laboratories sued Mayo Clinic for attempting to develop a similar test, the Supreme Court held that the patent was invalid because it merely applied a law of nature using conventional steps already recognized in the medical community.[29]

Similarly, in AMP v. Myriad Genetics, when confronted with the question of allowing patents on human genes—specifically the BRCA1 and BRCA2 genes known to be associated with increased risk of breast cancer—the Supreme Court held that naturally occurring gene sequences and their derivative products are not patent eligible.[30] However, it kept the door open for patents on molecules that are created by synthetically refining genetic sequences.[31]

These decisions reinforce the principle that natural occurrences, in this context gene sequences, are not patentable. The Myriad decision increased access to BRCA testing, allowing other companies to continue studying these genes without having to worry about potential infringement suits.[32] It also encouraged genetic research and innovation by removing barriers associated with exclusive licensing and patent rights on naturally occurring genes.[33] On the other hand, Myriad raised concerns among investors and biotechnology companies about the potential for reduced return on investment into new genetic tests and therapies if patent protections are limited.[34] This problem is analogous to the Prometheus decision, in that medical companies became more hesitant to invest in diagnostic tests that rely on genetic information, as patents may not be available to protect their innovations, thus hindering the field of personalized genetic medicine. Both decisions have resulted in uncertainty and ambiguity in the patentability of diagnostic testing and raised questions about the future of gene-based patents.

Recommendations and Future Directions

Various reforms and initiatives are necessary to deal with these issues concerning gene patents. First, permit laws should be reformed to specify the requirements to be eligible for patent protection. Such development would require distinguishing between a naturally occurring gene sequence and man-made creativity to avert vital genetic information from being locked within patents and made available to the scientific community and the healthcare sector. Developing open-access initiatives can also increase opportunities for collaboration by enabling the exchange of genetic data without the burden of licensing fees or fear of infringement, expediting research, and emphasizing equitable access.

Improving equitable licensing practices also helps prevent monopolistic practices in the genetic testing industry by introducing initiatives that modify licensing terms to better protect the interests of consumers. Public awareness campaigns can educate communities about their rights concerning genetic testing, while advocacy groups can push for equitable access to genetic technologies and resources. Focusing on public health instead of profits can lead to cheaper genetic tests through partnerships between public and private sectors, and government agencies will be more motivated to promote universal access to genetic information. Establishing a stronger foundation that is more equipped to address the impact of gene patenting on public health will guarantee that changes needed are made in the future.

IV. Conclusion

In conclusion, there are numerous ethical dilemmas surrounding gene patenting, demonstrating the elaborate interactions between innovation, access, and equity. On one hand, patents incentivize research and development in the genetic field, stimulating advancements in diagnostics and treatments that can save lives. However, the exclusivity conferred by patents often leads to monopolies, driving up costs and limiting access to essential genetic tests and therapies, particularly for underserved populations and countries. This disparity raises significant ethical concerns regarding health equity and the exploitation of genetic resources from diverse populations. Moreover, the ambiguity in patent eligibility, as highlighted by key Supreme Court cases, perplexes investors and researchers alike. As the world of gene patenting continues to evolve, it is essential to establish a regulatory structure that balances the interests of innovation with the fundamental rights of individuals to access healthcare, ensuring that the benefits of genetic advancements are equitably distributed across society.

---

[1] National Center for Biotechnology Information (US), Understanding Human Genetic Variation, Bethesda (MD): National Library of Medicine (US) (2005), https://www.ncbi.nlm.nih.gov/books/NBK20363/#:~:text=Between%20any%20two%20humans%2C%20the,different%20between%20any%20two%20individuals. [https://perma.cc/JT6X-NCCV].

[2] Avens Blog, Can Genes Be Patented?, Avens Pub. (Oct. 24, 2018), https://www.avensonline.org/blog/can-genes-be-patented.html. [https://perma.cc/X3J5-5CDA].

[3] Jon F. Merz et al., What are Gene Patents and Why are People Worried about Them, 77 Milbank Q. 637 (1999), https://pmc.ncbi.nlm.nih.gov/articles/PMC2220018/.  [https://perma.cc/D3AE-XHEU].

[4] Id.

[5] Id.

[6] Id.

[7] Id.

[8] Id.

[9] Id.  

[10] Robert Cook-Deegan & Christopher Heaney, Patents in Genomics and Human Genetics, 11 Annu. Rev. Genomics Hum. Genet. 383 (2010),[https://perma.cc/MTS6-4NDL].

[11] Gold, E. R., & Carbone, J. (2010). Myriad Genetics: In the eye of the policy storm. Genetics in Medicine, 12(4), S39-S70. https://pmc.ncbi.nlm.nih.gov/articles/PMC3037261/. [https://perma.cc/9QL6-BCWY]

[12] Genetic Testing Market Size, Share, and Trends 2024 to 2034, Precedence Research, https://www.precedenceresearch.com/genetic-testing-market. [https://perma.cc/A368-WH3M] (last updated Sept. 2024).

[13] Murray, F., & Stern, S. (2007). Do formal intellectual property rights hinder the free flow of scientific knowledge? Evidence from patent-paper pairs. Journal of Economic Behavior & Organization, 63(4), 648–687.

[14] The Impact of Gene Patents on Access to Genetic Testing and Healthcare. Congressional Testimony by the American Civil Liberties Union (ACLU), 2010.

[15] Kathy Hudson, Mary K. Holohan & Francis S. Collins, Keeping Pace with the Times—The Genetic Information Nondiscrimination Act of 2008, 358 New Eng. J. Med. 2661 (2008).

[16] U.S. Food & Drug Admin., Laboratory Developed Tests, FDA, https://www.fda.gov/medical-devices/in-vitro-diagnostics/laboratory-developed-tests (last visited Nov. 21, 2024). [https://perma.cc/76PW-RLM5].

[17] USPTO Manual of Patent Examining Procedure (MPEP) § 2106: Patent Subject Matter Eligibility.

[18] Id.

[19] Arti K. Rai & Rebecca S. Eisenberg, The Public and the Private in Biopharmaceutical Research, 10 Harv. J.L. & Tech. 123 (1997), https://scholarship.law.duke.edu/cgi/viewcontent.cgi?article=2225&context=faculty_scholarship. [ https://perma.cc/3TM5-2ZW3%5D

[20] David B. Resnik, DNA Patents and Scientific Discovery and Innovation: Assessing Benefits and Risks, 7 Sci. & Eng’g Ethics 29 (2001).

[21] Heller, M. A., & Eisenberg, R. S., Can Patents Deter Innovation? The Anticommons in Biomedical Research, 280 Science 698, 698-701 (1998).

[22] Id.

[23] 35 U.S.C. §§ 101, 102, 103 (2020).

[24]  The Ethics of Patenting DNA: A Discussion Paper, Nuffield Council on Bioethics (2002), https://cdn.nuffieldbioethics.org/wp-content/uploads/The-ethics-of-patenting-DNA-a-discussion-paper.pdf.  [https://perma.cc/X6NG-NRWT].

[25] Resnik, supra, at 46-47.

[26] National Human Genome Research Institute, Intellectual Property, U.S. NAT’L LIBRARY OF MED. (Feb. 1, 2021), https://www.genome.gov/about-genomics/policy-issues/Intellectual-Property. [https://perma.cc/4WTH-673E].

[27] D.R.J. Macer, Patent or Perish? An Ethical Approach to Patenting Human Genes and Proteins, 2 Pharmacogenomics J. 361 (2002), [https://perma.cc/KJ8G-X934].

[28] Mayo Collaborative Servs. v. Prometheus Labs., Inc., 566 U.S. 66, 66 (2012).

[29] Id. at 17.

[30] Ass’n for Molecular Pathology v. Myriad Genetics, Inc., 569 U.S. 576, 580-81 (2013).

[31] Id. at 595.

[32] Id. at 590-91.

[33] Id. at 584-85.

[34] Cho, M., Patently Unpatentable: Implications of the Myriad Court Decision on Genetic Diagnostics, Trends in Biotechnology, 28(11), 548-551 (2010).