Tag Archives: Myriad

by | November 29, 2012 · 11:10 AM

To Improve Care for Your High Risk HBOC Patients, You Don’t Need the Supreme Court: It Is All in Your Hands — and In Your Files

What happens in 2015 when the essential Myriad patents on BRCA 1 and 2 expire? 

Think about it a while.   What are you imagining?  Lower costs, better tests, quicker turn-around times?  A single panel covering all breast cancer susceptibility genes?  An end to unhappy conversations with patients trying to explain why the process can’t be simpler and cheaper?

While you mull over your utopian fantasies of a patent-free universe, keep this in mind: Myriad has been thinking about it for a while now.  After all, BRACAnalysis remains close to 90% of their total revenue, so it’s probably on the minds of Myriad executives.  It certainly was on their minds at Goldman Sachs when they listed Myriad Genetics as a sell in February 2011. 

Does Myriad have a plan?  It sure looks like it.  In 2006, Myriad ceased to publish BRCA variant information, and ended their relationship with the open-access Breast Cancer Information Core (BIC) database.  Since then, they have assembled a private repository of genotype-phenotype information that seems to be a central component of its strategy for future earnings.  How central?  Well, Dan Vorhaus et al at the Genomics Law Report speculated back in 2011 that a strategy of relying on their “vast—and currently proprietary—database of BRCA test data, including VUS data” was behind the company’s decision not to even bother fighting patent infringement in Europe, citing Myriad CEO Peter Meldrum’s emphasis on “other competitive factors” as an alternate strategy for competitive advantage.

Forget about the ACLU lawsuit, and next-gen sequencing and all the other changes you have read about that may affect genetic testing going forward.  Get the DNA sequence data wherever you want, and however you want, and as cheaply as you can, but as long as Myriad has sole control of the information needed to provide analysis, no other company will be able to challenge them on a competitive basis.

 Is this fair?  Well, it is an end run around the philosophical basis of patent protection, which is meant to provide a 20 year window of unfettered commercial use in return for a free and open sharing of information to stimulate further innovation.  But it is not illegal.  Myriad controls their database, and can’t be compelled to share.  They own the database – but NOT the information.  The information is out there – in report after report after report, languishing in the files of thousands of clinical cancer specialists.  In other words, YOU HAVE IT.

 So now, some exciting news.  Dr. Robert Nussbaum at UCSF is spearheading an effort to collect BRCA 1 and 2 variant data in ClinVar, an accessible archive of anonymized genotype/phenotype information hosted by the National Center for Biotechnology Information (NCBI).  While the goals of ClinVar are very broad – to aggregate information about sequence variation and its relationship to human health – Dr. Nussbaum’s goal are quite specific: to assemble a list of BRCA 1 and 2 variants found since 2005, along with information classifying them as benign, pathogenic, or unknown. 

 But THIS ONLY WORKS AS A COLLABORATIVE EFFORT.  Dr. Nussbaum has contacted 600 clinicians involved in clinical care of HBOC patients (so far, 26 centers have contributed over 3000 BRCA 1/2 variants).  With their cooperation and yours, ClinVar could amass a database to rival that of Myriad, ushering in an era of genuine access to unrestricted, competitively priced information for our patients.  How great is that? 

 To get involved, contact Dawn Lee, a genetic counselor at Partners Center for Personalized Genetic Medicine who is working with Dr. Nussbaum.  Here is her contact information:

Dawn Lee

DLEE30@PARTNERS.ORG

617-768-8548

You can get all the important specifics from Dawn, but for those of you who are interested, I’ve made a stab at some FAQ’s:

 WHAT EXACTLY IS BEING COLLECTED?

This project is limited to collecting information on the variant, identifying it using cDNA and/or genomic numbering, and its classification in a 3-tier scale as benign, pathogenic/deleterious or unknown (some reports use a 5-tier scale including possibly benign and possibly pathogenic, which is also good).  The goal is to capture each variant one time per family.

 IS THIS OK?  ISN’T IT A HIPAA VIOLATION?

Great question!  HIPAA does not place any restrictions on the disclosure of information that is de-identified.  For this reason, no names or other identifiers will be collected, including familial information or the name of the facility where the patient was seen.  Does this mean that the clinician who orders the test has the right to use it in this way?  “Ownership of Information’ issues are governed by state laws, and you can check out your state regulations in this 50-state survey of state laws governing the  collection, storage and use of human tissue specimens by the National Cancer Institute but – spoiler alert – Dr. Nussbaum thinks the answer is yes, in all states.

DO WE NEED IRB APPROVAL?

Poor IRB’s!  Everybody hates them so much.  Don’t you think that is hurtful to their feelings?  Sure, lots of people are doing this data collection without IRB approval.  Those people are following Federal Regulation 46.101(4) from the Office for Human Research Protections, which specifies as exempt: “Research involving the collection or study of existing data,documents, records, pathological specimens, or diagnostic specimens, if these sources are publicly available or if the information is recorded by the investigator in such a manner that subjects cannot be identified, directly or through identifiers linked to the subjects.”  But does anyone ask the IRB how this makes them feel? 

IS THIS GOING TO BE A HUGE PAIN IN THE ASS?

First of all, if you have the reports in electronic form, it should be pretty straightforward.  If you have them on paper, you have to make de-identified copies, which means masking the names in two places (Dr. Nussbaum suggests post-it notes).  Dawn reports that there is a small stipend available for paying someone (contact her) – I suggest genetic counseling students (if you are in the NY area, contact me).  And – wait this is exciting! – the next 20 centers to provide >200 variants will receive an Ipad mini. 

 WHY NOT COLLECT MORE PHENOTYPIC INFORMATION?

Why indeed?  Why not report age of onset or bilaterality?  And if you are going to do that, you might as well check for hormone status.  It’s like that child’s book, “If You Give a Mouse a Cookie.”  If you give a researcher laterality, he is going to want oncogene status.  If you give her oncogene status, she is going to want response to treatment data.  The limited goals of this project make it easier for more people to participate (see IS THIS GOING TO BE A HUGE PAIN IN THE ASS?, above), and thus  to advance the primary goal.

 

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by | March 31, 2010 · 9:37 AM

Sweet!! The Judge Rules on the Myriad Patent Case

On Monday, Judge Robert Sweet of the Federal District Court in Southern New York shocked the world by ruling against Myriad Genetics, invalidating claims with regard to patents on BRCA 1 and 2.  This morning, the genetic counselors, oncologists, patients and their families as well as other interested parties like patent lawyers and venture capitalists are wondering: what does it mean, really?

 The ACLU and other parties sued Myriad in 2009, claiming their patents interfered with medical care for families concerned about hereditary breast and ovarian cancer by stifling innovation that might lead to better tests and denying them access to an alternate lab to double check or compare results.  In addition, the lawsuit challenged the idea of gene patenting, suggesting that DNA sequences were a part of nature and that they were discovered rather than invented, and therefore were not in their essence eligible for patenting.  For their part, Myriad maintained that the patent covered not DNA as it appeared in nature, but the isolated gene product that was tested in the laboratory.  This is concept – that purified or isolated DNA is effectively a chemical made by man — underlies many, many patents granted over the past 20 years or so, and Myriad was widely expected to win the case easily.

 But they did not.  Not to get too carried away – the case will be appealed and all the same experts who predicted that it would be dismissed are now predicting that it will be overturned.  But were it to stand, would it change the facts on the ground for consumers of BRCA 1 and 2 testing?  The short answer is, probably not.  The ruling struck down parts of 7 patents relating to BRCA testing; Myriad holds an additional 16 patents on BRCA testing (this might shed some light on the bewildering fact that there are over 40,000 patents on human genes, meaning that gene patents outnumber genes by a factor of nearly two to one).

 Still, the ruling is likely to have a profound effect long term, as it puts industry and investors on notice that the law surrounding patent protection of genes and gene tests is far from settled.  One question that has been debated since the beginning of this lawsuit is whether or not patents on gene sequence (or their moral equivalent, patents on cDNA sequence, which the judge correctly identified as being different only in a petty and legalistic sense) promote or interfere with development of diagnostics, treatments, or cures for genetic disease.

 This is really the million dollar question.  Promoting innovation is the point of patents; it is the sine qua non of the whole patent deal.  It is tempting, but fatally wrong, to think of patenting as a system of social justice, ensuring that the deserving individuals receive the benefits of their labor and/or inspiration.  This is lovely, but false. A patent is not a right, like free speech or pursuit of happiness.  An individual or a corporation has no right to demand that the government throw its weight behind protecting their intellectual property.  Without a patent, they can protect their intellectual property simply by keeping it secret, like the formula for Coke.  In fact, one part of the deal when you get a patent is that you agree to make the information public.  This, in addition to making new ideas lucrative, is how patents are designed to promote innovation.  In this way, it is reasoned, we are spared the wasted energy of reinventing the wheel, and can go on to the society-enhancing process of improving our brakes, or our steering, or our floor mats.  (Are you listening, Toyota?)

 This ruling (maybe temporarily) invalidates sequence as the point at which a patent can be applied, a standard that might then be considered in other patent cases (or it might not.  Judge Sweet’s decision sets a precedent, but it doesn’t change any laws).  It leaves the door open for patents to be acquired for subsequent steps, such as testing methods or diagnostic algorithms (think Mammoprint).  The hope of many who argue against patents on sequence is that by eliminating the obstacle of a patent at this early stage, it will allow for more open and vigorous research to continue after the gene discovery phase, leading to more success in the development of diagnostics and treatments.  Which is, after all, what the whole thing is supposed to be about.

 For many years, the research system was divided, roughly, into basic science, which was generally funded by government or philanthropic sources and generally took place in academic settings, and commercial applications, which were generally funded by industry with a profit motive.  In 1980, Congress passed the Bayh-Dole Act, which actively encouraged universities to pursue patents and academic-industry partnerships, so that more of the government investment in science might be translated into advancements available to consumers.  As hoped, the number of patents resulting from NIH-backed science soared.  Bayh-Dole was very successful in promoting commercial use of scientific research; at the same time, it broke down the imaginary wall between academia and commercial interests, with consequences for everything from collegial information sharing to the dynamics of peer review that we are still sorting out today.  For example, it used to be a given that patents were not enforced in research settings.  Today, however, academics are routinely vested in companies, while companies often fund joint ventures with universities.  Companies are less inclined to wink at patent infringement in research when they see Washington University or UCSF as proxies for Monsanto or Genentech.

 But theoretically, a changing patent landscape could shift genetic research back in the direction of earlier models, with basic gene identification done mainly in academic settings using NIH or other public funding.  Detractors say that academic curiosity alone cannot drive discovery at the same pace as the dangling of dollar signs; others point to examples where research has been robust even without the financial inducement of an exclusive, patent-protected, market edge.  I am inclined to believe that intellectual curiosity and the desire to discover can do great things among the science-minded, but then, hell, I have always been a crazy optimist.  I mean, against all the odds in the world, I thought we could pass health care reform just because it was the right thing to do.

 Crazy, right?

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by | September 15, 2009 · 6:40 AM

Guest Post: Female Buyer Beware

By Lola Cook

Lola Cook, a board-certified genetic counselor, currently works as a prenatal genetic counselor at a private hospital in Indianapolis. Previously, she worked in pediatric and adult genetics for 11 years at Indiana University Medical Center. She is the Project Director of a Maternal-Fetal Medicine and Genetics Maternal Child Health grant funded by the Indiana State Department of Health.

This past week, I was skimming my Journal of Genetic Counseling when my attention was drawn to the article by Tamara Somers and her co-authors about women’s interest in cancer genetic services, even when they do not have a significant family history. Part of the interest seemed related to their cancer distress. I am not surprised, for it mirrors my own level of interest or, should I say truthfully, anxiety about breast cancer. Added to my background worry, is the fact that my colleague who is the same age as I, in her 40’s, was recently diagnosed with stage III breast cancer following a normal screening Myriad BRAC Admammogram a year before and a limited family history. And then there are the new Myriad direct-consumer ads about BRCA gene testing finding their way into our own homes!

The National Cancer Institute estimates that currently the lifetime risk for a woman to develop breast cancer is 12.7%, which translates into 1 out of 8 women.  They go on to state:

“These probabilities are averages for the whole population. An individual woman’s breast cancer risk may be higher or lower, depending on a number of factors, including her family history, reproductive history, race/ethnicity, and other factors that are not yet fully understood.”

To be honest, it blows my mind that not more is done to offer and provide breast cancer risk assessment to women when you consider the background risk and so many mitigating factors. In addition, some of us are worriers, and not necessarily objective ones.

I was lucky (or just a worrier with resources). I knew to call the cancer genetic counselor where I work, when my cancer distress was increasing.  She suggested a general breast cancer risk assessment clinic in our hospital, not the cancer genetics clinic, since I did not “qualify” with my mere late-onset breast cancer mother. It took a few contortions to get into this clinic for breast cancer risk assessment, and then it was found I qualified for yearly MRI breast examinations based on my personal and family histories. I was high risk. In fact, the radiologist reluctantly admitted after my mammogram this year “that with your dense tissue, the detection rate of the mammogram is probably a little better than 60%. It’s good you are having an MRI”. How many years had I obediently done my annual mammogram with no specifics provided or context given to the results, just assuming I was in the clear zone? Those of us interested and yes, even anxious, can not assume basic and individualized breast cancer risk assessments and/or referrals will happen during our 15-minute primary doctors’ visits or even by our local breast centers!

As a genetic counselor and as a female, I suggest that we get the word out to our friends, families, and patients with limited family history about the option of breast cancer risk assessment in a formal setting, whether it is like the clinic I attended or a specialty genetics clinic. As health care providers, the more difficult task is to figure out how to make breast cancer risk assessment services more readily accessible to all women. At a time when we are faced with direct consumer ads in our own living rooms, women can not be fooled that screening and testing are enough. Cancer risk assessment services can do much to adjust risk perceptions, reduce anxiety, plan truly useful and individualized screening and testing protocols, and coordinate care. Based on this small study, we know the likely response, if we just take the time to ask and refer.

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by | July 2, 2009 · 7:34 AM

Guest Post: Gene Patents- Why should genetic counselors care?

By Ellen T. Matloff

Ellen T. Matloff, M.S. received a Bachelor of Science degree cum laude from Union College, and a Master’s in Genetic Counseling from Northwestern University. Ms. Matloff currently serves as the Director of Cancer Genetic Counseling at Yale Cancer Center in New Haven, Connecticut and previously worked at SUNY Health Sciences Center in Syracuse, NY. She is board certified by the American Board of Genetic Counseling and is a member of the National Society of Genetic Counselors, the American Society of Human Genetics and the American Society of Clinical Oncology.

Should we, as genetic counselors, care about gene patents?

We have plenty of other things to worry about: patient care, publication pressures, administrative responsibilities, growing caseloads, shrinking health care budgets (I could go on, but why raise our collective blood pressure?) — so why, oh why, would we add gene patents to this list?

Because gene patents have a major impact on many things that affect our practice. This includes, but is not limited to:

  • Cost of genetic testing, which influences: Patient access and insurability
  • Market competition, or lack thereof, which affects: Cost (see above), our ability as practitioners (or as a Society) to drive change within commercial genetic laboratories regarding issues such as price setting, marketing, advertising, turnaround time, reporting mechanisms, etc.
  • Clinical research, clinical research, clinical research. It is pretty hard to enroll patients in a study with an extra $3000 price tag per subject. Even a small study of 100 patients would cost more than $300,000 in genetic testing costs alone if patients were to receive their genetic testing results. And as those of us who have written grants know all too well, 100 subjects is a small ‘n’ and $300k is a huge chunk of most available grants.

In short, a strictly enforced patent creates a monopoly. Our patients need a test, we have to order it from one company, and they hold all of the cards. Lump it or leave it.

In the case of BRCA1 and BRCA2 testing, the cost of testing was $1600 in private laboratories in 1997. Twelve years later with the advent of more efficient and less expensive technology, the cost of the testing has not dropped, but soared: $3120 for full sequencing + an additional $650 for BART analysis = >$3770 per patient. Cha ching!

Perhaps in response to rising costs and direct-to-consumer advertising, many insurance companies have tightened their belts and their inclusion criteria for testing. HealthNet tried to drop coverage for genetic testing altogether two years ago, before an angry mob of rioters (also called genetic counselors) bled the story to the press. Medicare will now only pay for testing in a person who already has cancer. Kind of obliterates the whole preventive healthcare angle, doesn’t it?

For all of the above reasons, genetic counselors should care about gene patenting. This is important, its effects are far-reaching, and this is precedent-setting. Educate yourself and educate others.

———-

Here is a great clip about Myriad’s BRCA patent from the documentary film In the Family.

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