Hi Reddit, my name is Dr. Haig Kazazian. Quick background: I’ve been studying human genetics since 1970 at Johns Hopkins. In 1994, I moved to the University of Pennsylvania to become chair of the Genetics department.

In 1995, I was working in a genetics lab at the University of Pennsylvania with my colleague Arupa Ganguly where we tested roughly 500 women per year for the breast-cancer-predicting genes BRCA1 and BRCA2.

In 1999, we received a "cease and desist" letter from Myriad Genetics, which had successfully patented the genes. Arupa and I became the first plaintiffs in the ACLU’s case against Myriad and the U.S. Patent and Trademark Office in 2008, which ultimately went before the Supreme Court.

Last Thursday, the Supreme Court unanimously ruled that naturally occurring DNA sequences aren’t patent eligible. More on the ruling from the SCOTUS blog.

Ask me anything!

Edit: Proof from the Johns Hopkins Medicine Twitter account

Edit 2: I need to run at 2:40 -- I'll try and answer a few more questions in the meantime.

Edit3: Thanks for all your questions. It was nice speaking with all of you. I've got to get back to work now. Best wishes, Haig Kazazian

Comments: 63 • Responses: 20  • Date: 

Swillyums10 karma

If the it were possible and common to patent genes, how would that affect the future of Medicine? Would it result in more treatments being created, with less competition to keep prices down?

HKazazianMD10 karma

I don't think it would change the number of treatments being created. Treatments depend upon finding a use for the gene sequence and uses are patentable. What the court ruled was that the natural gene in our bodies is not patentable until you find a use or a process.

codingsewer5 karma

I'm still trying to wrap my head around the process. Does this mean that everyone is now free to look at and research genes but once they create a "use" they have to worry about what others have patented?

Was Myriad Genetics attempting to gain a monopoly on research based on these patents? Ex: No one else can "look" at these genes without our license.

HKazazianMD6 karma

First question:Yes, they would have to check tomake sure their new use had not been patented. Second question: Myriad did allow research on BRCA1 and BRCA2 genes. However, there patents could have excluded that research, if that is what they wished.

rjk796 karma

How important is the distinction that the court made that naturally occurring genes are not patentable, but that man made genes (cDNA) still are patent eligible? As someone who understands the law side of this way better than the science part, I have trouble figuring out what the real world result of this distinction is.

How difficult is it to create the desired cDNA? Is it just standard procedure for geneticists? Or is there an important step in creating the desired cDNA that should be worthy of a patent?

Is there only 1 cDNA per naturally occurring gene? Or could you make many different cDNA? My understanding is that Myriad was actually using cDNA as part of the test. Could you create a different cDNA from BRCA1 and BRCA2, and therefore be able to design a test around a patent granted to Myriads cDNA patents? Or do the cDNA claims still effectively grant them a monopoly on any BRCA1/2 test?

Sorry for the string of questions, just appreciate the opportunity to get a better grasp on the science side of things that Justice Scalia and I need. Hopefully these questions at least make sense. Thanks for taking the time to do this.

HKazazianMD7 karma

I don't think that the ruling that cDNA is patentable will have is a major effect. Companies are still going to have to come up with a use for their cDNA. By the way, it's intereting to note that cDNA makes up about 1 % of our natural DNA. The Court missed the boat on this, in my opinion. cDNA occurs like this. The gene is copied into RNA with introns (segments that won't be used) and are later taken out. The RNA is then copied back into DNA which is called cDNA and that DNA is put back into the genome (our chromosomal DNA). In fact, this natural process is a subject of my research in the lab. Question two: Not difficult in the lab to create the cDNA. It takes the isolation of the RNA and an inexpensive enzyme called reverse transcriptase. Yes, it's standard procedure for about 25 years. No really important step. Question three: Without going into detail here, I don't think the cDNA claims still grant Myriad a monopoly.

FlavaFlavivirus6 karma

First, I would like to thank you for moving this through the courts. As a microbiologist, I see how IP laws stifle innovation on a daily basis.

In terms of the ruling, it states that cDNA is patentable. I am afraid that this part of the decision could be problematic. For instance, if a RT-PCR assay were developed for the detection of a specific RNA species, would the cDNA sequence, and hence the RNA sequence be patentable? If so, is it the entire replicon that is patented, or only the primers and probe? Could you just design a new set of primers and probe to get around it?

HKazazianMD3 karma

I'm not that up on the patent law, but I think perhaps the RNA sequence might be patentable, but that's debatable. You probably could design new primers and probes to get around any patent of this kind.

TheGobiasIndustries5 karma

I noticed in one of the news stories, they mentioned you had a gene patent of your own. Can you explain your patent?

HKazazianMD2 karma

Yes, we patented four important mutations in the CFTR gene, that is altered in cystic fibrosis. We licensed that patent to a large number of gene diagnostic companies, allowing free competition. That patent expired in April, 2012.

tOTC3 karma

I'm not very well versed on patents, but what exactly does that mean? If you patent something with the idea to allow free competition what is the difference to not patenting it at all?

HKazazianMD4 karma

The patent was licensed to many companies. We received royalties from licensing from those companies. In the Myriad case, the company refused to license the patent to any other testers, companies or academics.

NotSureIfFunnyOrSad4 karma

Do you think a viable cure or prevention method for cancer is on the horizon, if so, is it near future or distant?

What's one of your favoright moments or achievements so far, and something you still want to do?

HKazazianMD7 karma

Question one: Cancer is not one disease, but perhaps hundreds of different diseases. Major treatments are coming for a few cancers all the time based on biomedical research findings. I think that most cancers will be effectively treatable via new drugs and other treatments over the next 20 years.

Question two: A favorite scientific moment was when I first learned about PCR, which you've probably heard about on courtroom or detective TV dramas. It's used for DNA analysis to identify suspects in crimes. It was Oct. 1986 and it was while my wife and I were attending Parent's Weekend at Stanford. I was consulting for Cetus Corp. and walked into my client's (Henry Erlich) office, and he said look at this result. It was really amazing! You could actually amplify a segment of DNA more than one-million times.

theopfor4 karma

  • Did you know anything about getting a cease and desist letter before it happened?
  • What was your first thought about receiving the letter?

HKazazianMD8 karma

Yes, I had dinner with Mark Skolnick, the founder of Myriad, in New York in late 1998, and he told me after dinner that Myriad would be sending us the "stop" letter. At least, he paid for the dinner.

Lord_Osis_B_Havior1 karma

Wow, it took 15 years to get it resolved! Are you surprised it took that long?

HKazazianMD2 karma

There was no movement at all until Oct. 2008 when the ACLU came to us looking for plaintiffs in the case. So it only took 4 1/2 years to get through the uS District Court, uS Appellate Court, Supreme Court sending it back to the Appellate Court, and back to the Supreme Court. Not so bad considering all those machinations!

Chazwozel3 karma

I was quite pleased with the overall verdict of the case. It seems absurd to patent naturally occurring genes. I find it analogous to trying to patent sunlight.

HKazazianMD1 karma

Good comment. HHK

logically3 karma

Obviously Ms. Henrietta Lacks cells have played an unbelievable role in human health and the advancement of medicine. Did her situation effect the ruling, specifically because her history lies there at John Hopkins? How is her history at John Hopkins addressed/celebrated?

HKazazianMD4 karma

Thanks for asking about Henrietta Lacks. Indeed, we and other researchers all around the worl still work with her cells (HeLa cells). I don't think her situation affected the ruling, but we do honor her now at Hopkins with an annual lecture and permanent display.

_elementsofstyle3 karma

two Questions: 1) If we start integrating synthetic genes with natural genetic code in people for possible cures to disease or to implement information, will this effect the patent process in the future? For instance if we find that a synthetic gene paired with a humans natural genetic code can save lives will we have to have a future declaration on how it can be dispersed for the betterment of humanity resulting in the current patents on synthetic genes to become irrelevant? (sorry i am not a geneticist or too familiar with that world, just curious about what i have been reading in the news)

2).which would you rather fight? 100 duck size horses or 1 horse sized duck?

HKazazianMD3 karma

Question two: Sounds like a tough choie! Question one:This one is difficult and probably will up to the courts again to decide. Are synthetic genes (which can now be made with a new, different code in the gene that will produce the natural protein) patentable? I don't know.

DMaximus123 karma

From your experiences with this case, has your opinion on patents or the US patent system changed at all?

HKazazianMD4 karma

I'm glad to see that gene patents have been invalidated. Great job, unanimous Supreme Court!

baltimoregal2 karma

Can you talk a little bit about what you think will be the next/best steps in the treatments for cancer? Will any of your work be in the individualized medicine arena?

HKazazianMD3 karma

As we learn about the altered genes in various cancers, we are finding new treatments based on which genes are altered. Some of my work will be at least tangentially related to indiviualized medicine.

CalliopesSong2 karma

If gene patenting were to become the norm in the research industry, what effects do you think this would have on patients and healthcare?

Additionally, do you think it is ethical to patent DNA and naturally occurring mutations? I can understand patenting a protocol or technique, but I'm finding difficulty in understanding how you can patent something that already existed.

HKazazianMD2 karma

The Supreme Court agrees!

Lord_Osis_B_Havior2 karma

I was mystified to see that Myriad Genetics' stock went up after the ruling. Was that just because cDNA was ruled patent-eligible? Will Myriad still have a monopoly on the BRCA test?

HKazazianMD2 karma

Perhaps people thought the ruling might hep Myriad, but the stock ended that day 6% DOWN so somebody came to their senses.

workacct209102 karma

  1. Thank you. 2. I'm an attorney and cannot fathom the difference between this and the genetically modified seed case. To me, it's genetic material and I believe shouldn't be patentable. Do you have an opinion on that case?

HKazazianMD3 karma

For genetically modified plants, a gene is found that alters the makeup of a plant and the gene's function is discovered. This gene is then transferred into a new plant producing some desired feature. This is quite different because a use is found for that gene, whereas in the BRCA case it was merely the natural gene that had been patented without a specific use.

vettel112 karma

Did you always know that you wanted to go into medicine? Also, how did you enter the field of human genetics, and what is it like working at Johns Hopkins?

HKazazianMD6 karma

I didn't know I wanted to go into medicine, but my family thought I was cut out for the profession. decided on medicine when I entered college. One person who had a big influence on me thought I would probably be a scientist, so I've done both. I got interested in human genetics during my last year in medical lschool upon doing a seminar course with Barton Childs, the father of pediatric genetics, at Hopkins. I've been at Hopkins since medical school, except for 16 years at Penn, so I guess you'd say that it's in my blood. It' s a great place to work, very collegial and friendly.

ForTheWin102 karma

General question. It looks like you've been in Baltimore for a while. What are your favorite things to do in the city?

HKazazianMD3 karma

We enjoy the crab cakes, museums, opera, and symphony orchestra.

MeeLawn1 karma


HKazazianMD2 karma

We went through the question of sez selection in our prenatal diagnostic clinic at Hopkins in the late 1970's and early 1980's. We decided at that time not to carry out that procedure. I hope that sex selection does not occur even if it becomes relatively easy to accomplish (which is not yet the case). We still can't determine all the genes involved in common traits like height or blood pressure. We still have much to learn about the function of many, many genes in our genome. So designer babies are still a long ways off. I hope we don't let this happen.