Gene patents will reverse progress in precision medicine

Prior to 2014 and the important Supreme Court decisions referenced above (Mayo, Myriad and Alice), people could, and did, patent not just genes but also each mutation or variation they detected along with its perceived significance for a patient’s health status. These numerous patents created a thicket preventing laboratories from analyzing and interpreting genetic information relevant to a patient’s health. This not only denied many patients the ability to access knowledge about their own health status but also hobbled innovation in precision medicine. At the time of Invitae’s founding in 2010 many investors questioned the viability of Invitae’s ambition to provide broad panels of genetic tests at an economical price precisely because of the existing patent thicket. Scores of patentees held numerous patents that claimed genes and mutations in genes covered by just the first modest panel planned by Invitae. For many, the patent thicket posed both economic and practical barriers to proceeding with even a small panel of genes to test. Testing the entire genome of a patient in the face of all of the then existing patents claiming aspects of human genes would be an impossibility as no one party would be able to assemble the rights to do so.

Invitae has long been committed to greatly expanding patient access to their genetic information, and in keeping with this commitment, Invitae filed an amicus brief in 2013 on behalf of the plaintiffs in AMP v. Myriad. When the AMP v. Myriad decision was handed down in June 2013, it unleashed a new era of precision where information gleaned from the Human Genome Project and other research could be more rapidly translated into medical approaches that work better for patients and their clinicians. It put an end to the practice of privatizing each incremental bit of knowledge about the significance of individual variations in a multitude of genes relevant to patient cancer risk or other diseases.

Since 2013, access to and the availability of genetic testing has increased dramatically. The day before the AMP v. Myriad decision in 2013, only one laboratory offered testing for hereditary breast and ovarian cancer. The day after the decision, at least five companies began offering testing for this indication.1 Today, according to the Genetic Test Registry housed at the National Institutes of Health, there are nearly 500 clinical tests available for the BRCA genes.2 The AMP v. Myriad decision also resulted in a reduction in the cost of genetic testing for both private and public payers as well as improvements in the quality of the tests – the cost of testing plummeted from $4,400 in 2013 to only a couple hundred to the patient at Invitae today. Further, the turnaround time for results fell from months to days, which is essential for healthcare providers and patients to plan and make time-sensitive decisions about life-altering surgery, such as a risk-reducing mastectomy to reduce the risk of developing hereditary breast cancer.

Importantly, single-gene testing utilized in 2013 is now known to be inferior to large multigene panels to evaluate a person’s hereditary cancer risk. Panel testing, as we provide at Invitae, is now the standard of care -- progress that would have been nearly impossible if licensing to overcome an entire patent thicket across scores of genes were required. Moreover, new information about relevant genetic variants and their implications for developing cancer is discovered every day. Had these important court cases not enabled the ability to conduct research, translate the findings into clinically actionable information, and perform diagnostic testing, patents on laws and products of nature would have severely limited the progress in precision medicine that we see today. For instance, the company that held exclusive testing rights under their BRCA patents originally used a testing approach (short-range polymerase chain reaction followed by genomic sequencing) that only accounted for the five most common types of rearrangements in the BRCA1 and BRCA2 genes. Thus, the test that launched in 2002 did not test for 12% of genomic rearrangements that can be detected using a different technology.3 Due to the patent, it took another four years for a test able to detect all known large rearrangements to be made clinically available.4 During that time, it remains unknown how many families may have received incomplete results and subsequently, missed opportunities to diagnose their cancer early or prevent it altogether.