Matthew R.G. Taylor, MD

This year has already been a busy one for the two genes most commonly linked to hereditary breast cancer: BRCA1 and BRCA2.

First, BRCA1/2 entered the spotlight after the actress Angelina Jolie revealed she had tested positive for a hereditary breast cancer mutation and had opted for prophylactic surgery to mitigate her cancer risks.

Because breast cancer risk is an important topic to many women and families, patient calls to our genetic services and to others increased during this national conversation (The 'Jolie effect' on BRCA risks, Internal Medicine News, July 2013, p. 13). Although these types of health-interest stories may lead some readers or listeners to overestimate their own risks of hereditary breast cancer, the temporary focus on family histories may induce some patients with concerning family histories to seek genetic counseling.

Shortly after the Angelina Jolie story, another BRCA-related event occurred that is likely to have far broader and longer-lasting effects.

On June 13, 2013, the U.S. Supreme Court ruled on the legitimacy of gene patenting of the BRCA1 and BRCA2 genes. The case pitted Utah-based Myriad Genetics, a genetic testing company, against a coalition of physicians, researchers, and advocacy groups (Association for Molecular Pathology v. Myriad Genetics Inc., 569 U.S. 12-398 [2013]). At stake was the question of whether human genes can be patented and protected under intellectual property laws, or if genes are more akin to "products of nature" and should not be subject to patent protection.

Although the case centered on the roughly $3,000 BRCA1/2 Myriad Genetics test, it had potential implications for many other genetic tests and for roughly 3,000 other patents issued by the U.S. Patent Office related to granted human genetic patents.

In a move hailed by many outside the entrepreneurial and business realms, the Supreme Court ruled unanimously against Myriad Genetics, invalidating five intellectual property claims around the BRCA1/2 patents. The court argued that genomic DNA is a "product of nature" and that "separating that [BRCA1/2] gene from its surrounding genetic material is not an act of invention."

On the surface, this ruling seemed straightforward for many of us in the clinical genetics field. It clarifies that discovering something biologically inherent in all of us (we all carry two copies each of the BRCA1 and BRCA2 genes) was not tantamount to an "invention" deserving of patent protection and commercial control by one company or individual.

Within hours of the ruling, several other laboratories released statements that they would immediately be offering BRCA1/2 testing – with the implication that costs of the expensive test would drop and become more affordable for many patients and clinics. Ambry Genetics briefly displayed a sign on its website that said, "Your Genes Have Been Freed." As prior efforts by clinical labs and even some research labs to sequence BRCA1/2 had been challenged by Myriad Genetics as patent infringement, the "freeing" of the genes was praised by many.

One immediate expectation is that the proliferation of multigene panels – which previously had to exclude patented genes – will likely occur. Whether and how this ruling will affect other aspects of previously patented genetic tests remain to be seen.

Thus, on first glance, the short-term winner would appear to be the patient, who shortly will be able to access less costly genetic testing. In spite of this victory for the patient, legitimate concerns will need to be addressed about the quality of testing by other laboratories that engage in BRCA testing.

From a technical standpoint, there is little reason to doubt the quality of laboratories that add BRCA testing to their menus. However, for more than a decade, Myriad Genetics provided the bulk of hereditary breast cancer testing – and in doing so accumulated invaluable experience from the interpretation of more than 1 million tests.

Initially, the genetic variants discovered were deposited into publicly available databases, but Myriad Genetics halted this practice in 2004, perhaps to further protect their interpretative expertise. Lack of access to the known pathogenic and benign BRCA1/2 variants may hamper other laboratories’ interpretation of some results.

The Supreme Court did not address this lack of data parity between Myriad Genetics and other laboratories. It’s possible Myriad Genetics could argue that, although BRCA1/2 testing has been liberated across the diagnostic laboratory spectrum, Myriad Genetics still offers optimal interpretation of BRCA1/2 test results.

Beyond the ruling on the BRCA1/2 question, there are some other interesting potential fallouts from the court’s actions.

One such area relates to patentability of cDNA. These are DNA sequences typically generated from processed RNA sequences; they differ from DNA principally in their lack of introns. Traditionally, cDNA is generated from the processed RNA transcripts and contains largely just the protein-coding portions of the genetic information.

Although processed RNA can be found in nature, the Supreme Court determined that the generated (think "invented") cDNA products are not naturally occurring and do merit patent protection. The legitimacy of this argument comes from noting that RNA does occur in nature, but cDNA has to be coaxed from the naturally occurring processed RNA.

From the biotechnology field’s perspective, this distinction between genomic DNA and cDNA is of paramount importance. Many biologically based therapeutics rely on cDNA technology, and invalidation of these patents would have irrevocably changed the biopharmaceutical landscape.

While cDNA’s patentability had been assumed (as had DNA by some), the Supreme Court’s ruling solidifies for now that cDNA products can be protected. On some level, knowing that cDNA intellectual property is inherently protectable may help pharmaceutical companies rest easier.

Outside the realm of human genetic considerations, the ruling provides some optimism for those wishing to challenge gene patents from other organisms, including many bacterial and viral patents. However, the excitement of being able to contest other patents should be tempered with concerns over how invalidating other gene patents could affect other areas of the biotechnology industry. For example, other patents related to products produced by nonhuman organisms might be subject to challenges, thereby broadening the impact of the BRCA1/2 decision into other areas, including pharmaceuticals, nutraceuticals, and genetically modified foods.

These broader possibilities imply that the BRCA1/2 patent ruling may be just an important chapter in a longer story of biological patents that will be worth following in coming years.

Dr. Matthew R.G. Taylor is trained in both internal medicine and clinical genetics and is associate professor and director of the Adult Clinical Genetics Clinic at the University of Colorado, Denver.

This year has already been a busy one for the two genes most commonly linked to hereditary breast cancer: BRCA1 and BRCA2.

First, BRCA1/2 entered the spotlight after the actress Angelina Jolie revealed she had tested positive for a hereditary breast cancer mutation and had opted for prophylactic surgery to mitigate her cancer risks.

Because breast cancer risk is an important topic to many women and families, patient calls to our genetic services and to others increased during this national conversation (The 'Jolie effect' on BRCA risks, Internal Medicine News, July 2013, p. 13). Although these types of health-interest stories may lead some readers or listeners to overestimate their own risks of hereditary breast cancer, the temporary focus on family histories may induce some patients with concerning family histories to seek genetic counseling.

Shortly after the Angelina Jolie story, another BRCA-related event occurred that is likely to have far broader and longer-lasting effects.

On June 13, 2013, the U.S. Supreme Court ruled on the legitimacy of gene patenting of the BRCA1 and BRCA2 genes. The case pitted Utah-based Myriad Genetics, a genetic testing company, against a coalition of physicians, researchers, and advocacy groups (Association for Molecular Pathology v. Myriad Genetics Inc., 569 U.S. 12-398 [2013]). At stake was the question of whether human genes can be patented and protected under intellectual property laws, or if genes are more akin to "products of nature" and should not be subject to patent protection.

Although the case centered on the roughly $3,000 BRCA1/2 Myriad Genetics test, it had potential implications for many other genetic tests and for roughly 3,000 other patents issued by the U.S. Patent Office related to granted human genetic patents.

In a move hailed by many outside the entrepreneurial and business realms, the Supreme Court ruled unanimously against Myriad Genetics, invalidating five intellectual property claims around the BRCA1/2 patents. The court argued that genomic DNA is a "product of nature" and that "separating that [BRCA1/2] gene from its surrounding genetic material is not an act of invention."

On the surface, this ruling seemed straightforward for many of us in the clinical genetics field. It clarifies that discovering something biologically inherent in all of us (we all carry two copies each of the BRCA1 and BRCA2 genes) was not tantamount to an "invention" deserving of patent protection and commercial control by one company or individual.

Within hours of the ruling, several other laboratories released statements that they would immediately be offering BRCA1/2 testing – with the implication that costs of the expensive test would drop and become more affordable for many patients and clinics. Ambry Genetics briefly displayed a sign on its website that said, "Your Genes Have Been Freed." As prior efforts by clinical labs and even some research labs to sequence BRCA1/2 had been challenged by Myriad Genetics as patent infringement, the "freeing" of the genes was praised by many.

One immediate expectation is that the proliferation of multigene panels – which previously had to exclude patented genes – will likely occur. Whether and how this ruling will affect other aspects of previously patented genetic tests remain to be seen.

Thus, on first glance, the short-term winner would appear to be the patient, who shortly will be able to access less costly genetic testing. In spite of this victory for the patient, legitimate concerns will need to be addressed about the quality of testing by other laboratories that engage in BRCA testing.

From a technical standpoint, there is little reason to doubt the quality of laboratories that add BRCA testing to their menus. However, for more than a decade, Myriad Genetics provided the bulk of hereditary breast cancer testing – and in doing so accumulated invaluable experience from the interpretation of more than 1 million tests.

Initially, the genetic variants discovered were deposited into publicly available databases, but Myriad Genetics halted this practice in 2004, perhaps to further protect their interpretative expertise. Lack of access to the known pathogenic and benign BRCA1/2 variants may hamper other laboratories’ interpretation of some results.

The Supreme Court did not address this lack of data parity between Myriad Genetics and other laboratories. It’s possible Myriad Genetics could argue that, although BRCA1/2 testing has been liberated across the diagnostic laboratory spectrum, Myriad Genetics still offers optimal interpretation of BRCA1/2 test results.

Beyond the ruling on the BRCA1/2 question, there are some other interesting potential fallouts from the court’s actions.

One such area relates to patentability of cDNA. These are DNA sequences typically generated from processed RNA sequences; they differ from DNA principally in their lack of introns. Traditionally, cDNA is generated from the processed RNA transcripts and contains largely just the protein-coding portions of the genetic information.

Although processed RNA can be found in nature, the Supreme Court determined that the generated (think "invented") cDNA products are not naturally occurring and do merit patent protection. The legitimacy of this argument comes from noting that RNA does occur in nature, but cDNA has to be coaxed from the naturally occurring processed RNA.

From the biotechnology field’s perspective, this distinction between genomic DNA and cDNA is of paramount importance. Many biologically based therapeutics rely on cDNA technology, and invalidation of these patents would have irrevocably changed the biopharmaceutical landscape.

While cDNA’s patentability had been assumed (as had DNA by some), the Supreme Court’s ruling solidifies for now that cDNA products can be protected. On some level, knowing that cDNA intellectual property is inherently protectable may help pharmaceutical companies rest easier.

Outside the realm of human genetic considerations, the ruling provides some optimism for those wishing to challenge gene patents from other organisms, including many bacterial and viral patents. However, the excitement of being able to contest other patents should be tempered with concerns over how invalidating other gene patents could affect other areas of the biotechnology industry. For example, other patents related to products produced by nonhuman organisms might be subject to challenges, thereby broadening the impact of the BRCA1/2 decision into other areas, including pharmaceuticals, nutraceuticals, and genetically modified foods.

These broader possibilities imply that the BRCA1/2 patent ruling may be just an important chapter in a longer story of biological patents that will be worth following in coming years.

Dr. Matthew R.G. Taylor is trained in both internal medicine and clinical genetics and is associate professor and director of the Adult Clinical Genetics Clinic at the University of Colorado, Denver.

This year has already been a busy one for the two genes most commonly linked to hereditary breast cancer: BRCA1 and BRCA2.

First, BRCA1/2 entered the spotlight after the actress Angelina Jolie revealed she had tested positive for a hereditary breast cancer mutation and had opted for prophylactic surgery to mitigate her cancer risks.

Because breast cancer risk is an important topic to many women and families, patient calls to our genetic services and to others increased during this national conversation (The 'Jolie effect' on BRCA risks, Internal Medicine News, July 2013, p. 13). Although these types of health-interest stories may lead some readers or listeners to overestimate their own risks of hereditary breast cancer, the temporary focus on family histories may induce some patients with concerning family histories to seek genetic counseling.

Shortly after the Angelina Jolie story, another BRCA-related event occurred that is likely to have far broader and longer-lasting effects.

On June 13, 2013, the U.S. Supreme Court ruled on the legitimacy of gene patenting of the BRCA1 and BRCA2 genes. The case pitted Utah-based Myriad Genetics, a genetic testing company, against a coalition of physicians, researchers, and advocacy groups (Association for Molecular Pathology v. Myriad Genetics Inc., 569 U.S. 12-398 [2013]). At stake was the question of whether human genes can be patented and protected under intellectual property laws, or if genes are more akin to "products of nature" and should not be subject to patent protection.

Although the case centered on the roughly $3,000 BRCA1/2 Myriad Genetics test, it had potential implications for many other genetic tests and for roughly 3,000 other patents issued by the U.S. Patent Office related to granted human genetic patents.

In a move hailed by many outside the entrepreneurial and business realms, the Supreme Court ruled unanimously against Myriad Genetics, invalidating five intellectual property claims around the BRCA1/2 patents. The court argued that genomic DNA is a "product of nature" and that "separating that [BRCA1/2] gene from its surrounding genetic material is not an act of invention."

On the surface, this ruling seemed straightforward for many of us in the clinical genetics field. It clarifies that discovering something biologically inherent in all of us (we all carry two copies each of the BRCA1 and BRCA2 genes) was not tantamount to an "invention" deserving of patent protection and commercial control by one company or individual.

Within hours of the ruling, several other laboratories released statements that they would immediately be offering BRCA1/2 testing – with the implication that costs of the expensive test would drop and become more affordable for many patients and clinics. Ambry Genetics briefly displayed a sign on its website that said, "Your Genes Have Been Freed." As prior efforts by clinical labs and even some research labs to sequence BRCA1/2 had been challenged by Myriad Genetics as patent infringement, the "freeing" of the genes was praised by many.

One immediate expectation is that the proliferation of multigene panels – which previously had to exclude patented genes – will likely occur. Whether and how this ruling will affect other aspects of previously patented genetic tests remain to be seen.

Thus, on first glance, the short-term winner would appear to be the patient, who shortly will be able to access less costly genetic testing. In spite of this victory for the patient, legitimate concerns will need to be addressed about the quality of testing by other laboratories that engage in BRCA testing.

From a technical standpoint, there is little reason to doubt the quality of laboratories that add BRCA testing to their menus. However, for more than a decade, Myriad Genetics provided the bulk of hereditary breast cancer testing – and in doing so accumulated invaluable experience from the interpretation of more than 1 million tests.

Initially, the genetic variants discovered were deposited into publicly available databases, but Myriad Genetics halted this practice in 2004, perhaps to further protect their interpretative expertise. Lack of access to the known pathogenic and benign BRCA1/2 variants may hamper other laboratories’ interpretation of some results.

The Supreme Court did not address this lack of data parity between Myriad Genetics and other laboratories. It’s possible Myriad Genetics could argue that, although BRCA1/2 testing has been liberated across the diagnostic laboratory spectrum, Myriad Genetics still offers optimal interpretation of BRCA1/2 test results.

Beyond the ruling on the BRCA1/2 question, there are some other interesting potential fallouts from the court’s actions.

One such area relates to patentability of cDNA. These are DNA sequences typically generated from processed RNA sequences; they differ from DNA principally in their lack of introns. Traditionally, cDNA is generated from the processed RNA transcripts and contains largely just the protein-coding portions of the genetic information.

Although processed RNA can be found in nature, the Supreme Court determined that the generated (think "invented") cDNA products are not naturally occurring and do merit patent protection. The legitimacy of this argument comes from noting that RNA does occur in nature, but cDNA has to be coaxed from the naturally occurring processed RNA.

From the biotechnology field’s perspective, this distinction between genomic DNA and cDNA is of paramount importance. Many biologically based therapeutics rely on cDNA technology, and invalidation of these patents would have irrevocably changed the biopharmaceutical landscape.

While cDNA’s patentability had been assumed (as had DNA by some), the Supreme Court’s ruling solidifies for now that cDNA products can be protected. On some level, knowing that cDNA intellectual property is inherently protectable may help pharmaceutical companies rest easier.

Outside the realm of human genetic considerations, the ruling provides some optimism for those wishing to challenge gene patents from other organisms, including many bacterial and viral patents. However, the excitement of being able to contest other patents should be tempered with concerns over how invalidating other gene patents could affect other areas of the biotechnology industry. For example, other patents related to products produced by nonhuman organisms might be subject to challenges, thereby broadening the impact of the BRCA1/2 decision into other areas, including pharmaceuticals, nutraceuticals, and genetically modified foods.

These broader possibilities imply that the BRCA1/2 patent ruling may be just an important chapter in a longer story of biological patents that will be worth following in coming years.

Dr. Matthew R.G. Taylor is trained in both internal medicine and clinical genetics and is associate professor and director of the Adult Clinical Genetics Clinic at the University of Colorado, Denver.