So I was on the phone with my good friend Deb Heine. She told me that a great tragedy is occurring.....What is that? Well while everyone was out playing patty cake and hyping 23andMe's democratization of SNP scans, Athena was doing something more dastardly.....Who is Athena? In the late Classical Greek myths, Athena is most commonly described as the daughter of Zeus, born from his head after he swallowed her pregnant mother.
You may be asking who in the heck is Deb Heine? Well she is the founder of the Claire Altman Heine Foundation. Her daughter Claire was born with a horrible disease called Spinal Muscular Atrophy. What's crazy is that the carrier rate of this genetic condition is similar to Cystic Fibrosis. You may be asking yourself...."Doesn't every pregnant woman get offered carrier testing for CF?" The answer is yes.....even women who are not of northern European ancestry have been offered CF screening. Why? CF happens in other populations to, just not as frequently.....
Well, in the case of Spinal Muscular Atrophy(SMA), it IS a pan-ethnic disease! Not just for white people. It is a rate of 1:40 people. That's pretty high...
So what is the big deal? Well, in October the American College of Medical Genetics will be making it policy that every pregnant women be offered carrier screening for SMA.
Whoa! How many women is that in the US? 4,315,000 births in 2007 according to the CDC....that potentially means 4 million plus laboratory tests for SMA....which works in the case of Cystic Fibrosis where there are 65 laboratories that do those 4 million samples each year.......
Flash back to Athena, the goddess of war and also the Greek goddess of wisdom, war, the arts, industry, justice and skill. And it's laboratory counterpart who is none of these....
You see, Athena has the patents for SMA testing....and it is now shutting down laboratories all over the country doing this testing. Leaving only 1 laboratory to handle those 4 million samples.....That lab? Genzyme!
This is why patents suck......no matter how good Genzyme is...and trust me they are very god at this biz.........There will be a bottleneck, delays and there will be price gouging, that will costs insurers millions of dollars.
So while 23andMe was hailing the democratization of a minimally clinically useful test, Athena was "Dictatorizing" carrier screening and a much more clinically useful test.
The Sherpa Says: This is the problem with healthcare, all the buzz is on a company backed by google rather than on where the real story is. Why hasn't genetics gotten the time it deserves? It's time has come. I just wish the press would pick up on this too. Stop the gene patents, save healthcare....it is just that simple....patent processes if you want...but make it illegal to patent genes. If we fail on this aspect, we will fail the future of our citizenry.
10 comments:
I completely agree with you. We must fight together against gene patents.
You can patent inventions; there is no sense to patent genes, as genes were already invented by nature. Everyone owns her genes. I'm the owner of BRCA in my body, not Myriad Genetics. Therefore I have the right to now the sequence of that gene in a democratized market environment. The same is applicable to my whole genome.
I think your blog is read by important people, so you should use it as a shutter to fight against gene patents. They have no sense.
Thanks for your comments. I think that we must fight strongly against patenting of genes.....Most importantly Human Genes. If we are ever to make any dent into healthcare expenditures we must bash the possibility of a genetic test consting more than a human genome does. IMHO, many regulators say "well, the 1000 USD genome will quash the patents" But, I think they are wrong. THe courts may uphold the reportability of genes in the genome....That would be a travesty. Patenting genes solves nothing and creates huge problems...
More on this shortly!
-Steve
Did you hear that the new NICE guidelines on familial hypercholesterolemia have recommended cascade screening for familial hypercholesteromia in the UK? Good idea, IMO. Too bad we can't do it here in the U.S.
Unfortunately, I disagree with certain other aspects of the guidelines, including the push to treat all kids with heterozygous familial hypercholesterolemia starting at an early age (I think they chose age 10). The theory is that by starting early you will prevent heart attacks decades into the future. I think that is an option, particularly for boys, since men with heFH sometimes have heart attacks as early as their 30s. In most cases, though, I think waiting until the child is a teenager would make sense also.
I also disagree with using ezetimibe as an add-on to a statin. There is no evidence that adding ezetimibe provides any additional benefit. In many cases, a potent statin such as rosuvastatin or atorvastatin is all that's necessary anyway.
My daughter's LDL went from 246 to 105 on 20 mg atorvastatin.
I had this thought reading your post, it may be completely far fetched, but nevertheless....
When it comes to working around patents I have heard of several examples where business is set up in a country where a given patent doesn't apply. Maybe.., just maybe... one could do that with a patented genetic test as well ? Everything else is globalized why shouldn't lab-services be too ?? The international logistics of mouth swab samples shouldn't pose a problem and frankly I do not see any other practical obstacles either. First thing next week I am going to find out whether our own lab can get such a service up and running without being affected by patent regulations. If we cannot do this for one reason or the other, maybe some other overseas lab could ....? Oh... and don't mention this to Athena Diagnostics and Genzyme.....:-)
SciPhu,
Right, you could probably run the test if you had the lab equipment around and the primers. But do you really think you're the first person to think that if the tests were conducted overseas that they'd be free from defending expensive litigation in the US?
If you do the tests as some token anarchistic rebellion against Athena and Myriad, don't involve your employer! You would probably be OK if you just tested yourself and a few friends and everybody kept their mouths shut. You could publish a walk-thru on sciphu.wordpress.com to do the tests simply to be antagonistic, too... if that's what you want.
Steve, are you saying that no patents should be awarded if the invention can be show to impact health?
Drew,
No. That's silly. My main point is that if it was a naturally occuring substance, I wouldn't think you could award a patent on it. And you can't in the case of omega 3 fatty acids or vitamins. So why do we allow patents on genes...they are naturally occuring macro-molecules. There is no novel creation going on there.....Now artificial genes......that's a whole 'nother story....
-Steve
Andrew. I've got the "lab equipment around and the primers", -and I've got the probes, -and I've got the logistics, -and I've got personell, -and the financial incentives are there (millions of samples), -ready to go really.
However, you are right, I'm not the first person to think this. I am also absolutely confident that setting this up would lead to "expensive litigation". But, that's is part of the point isn't it ? Going to court means that the validity of the patents would be challenged legally. Which is a good thing when these patents are questionable in the first place.
That said, I am not sure I feel as strongly as Dr. Murphy on this point, patents are cornerstones and foundation of building business, and diagnostic business needs IP-protection just as much as pharma industry does. My eagerness to move in on this analyses proves this point, I guess....:-)
Guys,
I guess we are not hitting the point right on its nose. IP protection yes...patent novel sequencing techniques....patent assay kits.....but don't ever patent that which was not created by anyone.....I discovered a new sequence.....bullcrap, you didn't discover anything....it was already there.....you just found it....thus it is not a new thing in the end. VC can patent everything, but the gene.....can you patent a sodium level? what about a cholesterol level? how about a blood pressure?
This whole point needs to be clarified. What is that which the patent protects? The investor? At the risk to the patient? Hmmmm...very nebulous ethics here....
Someone needs to challenge this in court.....T.Boone do you have some money lying aound????
-Steve
We must fight gene patents. These companies are not developing anything that was not there before they came along. Consumers need to be educated about his problem.
Deb and I were also spekaing about this the other day. THank god for people like Deb who have dedicated their time and passion to helping others gain access to what we did not have when we were pregnant. I too lost a child to a horrible condition that is called SMA. It is THE number one genetic killer of infants and children under 2 and we are not offered carrier screening because of patent issues.
Deb has been working with Athena for five years and we are still fighting for Pan Ethnic screening.
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