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.
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Here is a great clip about Myriad’s BRCA patent from the documentary film In the Family.
The DNA Exchange 
As a person who did a research study with BRCA testing, I can tell you that Myriad provided a significant discount to us. Instead of $3120, we were charged about $1850 (I don’t recall the exact amount) for comprehensive BRACAnalysis. While I applaud Myriad for the discount, it raises a huge question to me as to why the test can’t always cost so much less?
The last time I investigated this, you could only order research testing if you would not share the test results with the patients — this obviously presents an ethical dilemma in an era in which we understand the implications for the patient and the entire family. As to ‘why the test can’t always cost so much less’ — I think its fair to say we’re looking at the profit margin here.
You should get your facts straight. In the past, Myriad negotiated discounted rates with some investigators who received NIH funding (for example) for genetic counseling/testing studies (in which results were disclosed to patients). Myriad is not doing anything that any other commercial entity doesn’t do – they seek to make a profit. They are not obligated to be in public service. The problem is not with Myriad – it is with the patent system and how broad it is. Ellen, we all get that you are using Myriad as an example of the slippery slope of gene patents but they are operating within a legal structure that permits them to do this. Shall we talk about the ethics of pharmaceutical advertising and drug pricing to make the point?
I think this is a very important issue that we should be discussing. Myriad is a prime example of why companies should not be allowed to patent genes. I will agree that there are many other companies out there who are doing this. Familion has a patent on many of the cardiac genes.
Here is the fact sheet on the ACLU law suit against the patent office alleging that no gene should be patented and sighting Myriad as the prime example of what can go wrong. Unfortunately, BRCA1 was patented in 1994 and BRCA2 in 1995, so it will be 2014/2015 when the patent runs out. Still—I am sure the 5 year window is why they are pushing so hard with their direct to consumer campaign.
http://www.aclu.org/freespeech/gen/39556res20090512.html
Thank you for bringing this to the forum. I think it is a very important issue in the services that we can provide patients!
I’ve always felt very uncomfortable with the entire concept of patenting genes. I have to disagree with Brin above- I don’t think this should even fall into the same category as pharmaceuticals or drug pricing. The idea of having a patent on a gene seems odd to me- it’s like getting a patent on the human pinky finger. Myriad did not “invent” the BRCA genes- yes, they spent a great deal of money helping find the location of these two genes and I understand that they have to turn a profit. But enough already! I don’t understand why Myriad can’t compromise a bit like Athena Diagnostics does with some of their patented genes (not that I think Athena’s that great either, but at least there’s some attempt at a middle ground). In the long run I think the patenting of genes has caused more harm than good, esepecially from the patient perspective.
Brin, thank you for your comments. I agree that this company is a commercial entity trying to make a profit; however, they have taken enforcement of a gene patent to a new level that has never before been seen in the field. So yes, now we have to monitor these patents very carefully. Like Angela, I do not agree that this can be compared to pharma in that they did not discover these genes. Are you willing to disclose your relationship to the company?
This is an interesting discussion. The topic is sure to heat up soon. I wanted to share an opinion from the “other side”. I am part of a well-known genetic testing company in the US. First, I would like to point out that no company can actually patent a gene. The patent is held on the technology and methodology used to diagnose specific diseases caused by a gene. So, it’s not “like getting a patent on the human pinky finger.” Cute analogy though. I would prefer a patent on a different finger used much more often in stressful traffic situations… the royalties would be rolling in!
Another fact to remember when considering this issue is where the patents come from. My company doesn’t actually develop the specific test assays for which we hold patents. Researchers in academia do. They are the ones that provide us with exclusive licenses. We pay a pretty penny in royalty fees which allow that researcher to continue their work.
I also want to touch on why tests can’t always cost what they do in a research setting. Labs like mine spend quote a bit of money validating assays before a test can be launched. It takes a long time to turn a profit on any new test. Additional considerations must be made in order to maintain a high quality, certified laboratory. Our lab has passed regulatory inspections with flying colors because of our significant investment in quality.
Be sure to keep this important discussion going.
Aaron, you raise some interesting points. However, in the case of BRCA testing, several CLIA-approved labs were offer clinically-based testing before this patent was enforced.
Worried that because I think the problem is with the system, not with Myriad operating within the system, I must have financial ties to the company? I have no financial ties or conflicts of interest related to any genetic testing company. I am a physician who works with two wonderful genetic counsellors. I think that you are unfairly using Myriad as a test case and your naivete about the flaws within the system at large are apparent.
They are a commercial for profit company and I believe that they are operating within the law – which invariably puts limitations on access.
Thank you for your opinion, Brin. I respectfully disagree with you on many of your points but appreciate a different perspective. Also, having no idea who I am, what I know about this company, the laws at hand, or these issues, I think its unjustified for you to deem me ‘naive’ — but again, you have a right to your opinion.
I think this discussion topic is an important one. I think that the major underlying issue involved isn’t whether or not the patent’s exist but why the patent’s exist. Myriad and other such companies are for-profit companies with a wealth of resources at their hands. However, even with a large network of resources it still takes alot to develop a testing methodology and validation technique such as time, money, research samples, and multiple technicians and individuals. The NIH needs to help companies like this in their endeavors with the trade-off that grant supported research be available to the public, and cannot be patented. Most of these methods do start in academic laboratories and therefore, are already supported by some form of government funded grant money. Perhaps if our government provided more support for companies and academics to develop new technologies, they wouldn’t be so interested in patenting the technology for their benefit as a company, but more so to benefit the individuals that the grant money seeks to support.