Angelina Jolie’s recent disclosure that she had undergone a prophylactic double mastectomy following a positive test for a BRCA1 mutation (which increases lifetime breast cancer risk by 60%-87%) prompted a national conversation about genetic testing and preventive surgery.¹ Tests for BRCA1 and BRCA2 cost more than $3000, placing them beyond the reach of many women. The high cost is partly a consequence of intellectual property protection afforded to Myriad Genetics Inc, which sequenced the genes and developed the testing capability.

The Patent Act permits exclusive control for a limited time (currently 20 years) of any “process, machine, manufacture, or composition of matter.” Following a US Supreme Court ruling upholding the patentability of a microbe that dissolves oil,² the US Patent and Trademark Office (USPTO) began routinely granting gene patents. On June 13, 2013, the US Supreme Court unanimously held that extracted and isolated DNA is a product of nature and not eligible for patent, but that complementary DNA (cDNA), which is synthetic DNA created in the laboratory, is patentable because it is not naturally occurring.³

The compromise ruling acknowledged difficult issues in a simmering controversy. Granting commercial rights over naturally occurring biological products seemed unethical because industry should not be able to control access to unaltered materials found in nature. However, failure to afford intellectual property protection could stifle innovation, robbing entrepreneurs of financial incentives for discovery. Myriad lost the exclusive right to isolate the BRCA1 and BRCA2 genes of individuals, but maintained the right to its unique method of synthetically creating BRCA cDNA to produce and market its tests.

SHAPING THE COURSE OF RESEARCH

The Court’s decision will influence the future of human genome research. The rapidly evolving capacity to sequence the genome will usher in an era of relatively inexpensive screening for multiple risks. Myriad plans to phase out BRCA gene tests by mid-2015, marketing instead a more comprehensive test panel for 25 genes. Competitor laboratories will also introduce panels, ultimately enabling detection of hundreds of genes.⁵

Research will be affected beyond human genetics; for example, researchers will likely challenge existing patents on bacterial genes. The Court’s decision may also affect intellectual property protection afforded to a wide variety of naturally occurring substances, such as innovations derived from microorganisms or plants.

Ideally, the law ought to facilitate science as well as make lifesaving technologies more affordable and accessible. The future should be filled with excitement as scientists and innovator companies expand the horizon of medical technologies to prevent, detect, and treat human diseases. Achieving this vision will require massive public investment, private innovation, and the useful application of new diagnostics and pharmaceuticals through the health care system.

REFERENCES

1

Jolie A. My medical choice. New York Times. May 14, 2013; A25.

2

Diamond v Chakrabarty, 447 US 303 (1980).

3

Association for Molecular Pathology v Myriad Genetics, 569 US ___ (2013).

4

Mayo Collaborative Services v Prometheus Laboratories, Inc, 132 S Ct 1289 (2012).

5

Pollack A. After DNA patent ruling, availability of genetic tests could broaden. New York Times. June 14, 2013; A16.

Source: JAMA