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Posts Tagged ‘personalized medicine’

In a recent, widely anticipated decision that pertains to rights to some of what makes us us, a federal judge ruled in favor of patients, medical societies, and researchers, who were suing Myriad and the Utah University research foundation, owners of the patent on the two genes whose mutations had been associated with increased risk for breast and ovarian cancer, BRCA1 and BRCA2. Their ownership had allowed them to retain complete rights for these widely prescribed diagnostic tests, which have remained prohibitively expensive for many patients (currently at more than $3,000).

Interestingly, in taking the decision to invalidate such patents, the Department of Justice differs in its opinion from the US Patent and Trade Marks Office (USPTO). Meanwhile the status quo will be maintained. The Biotechnology Industry Organization (BIO), the organization that lobbies for the pharma and biotech companies, has been arguing since the beginning of the case that preventing patenting of human genes will literally impede life science innovation and had stated after the court’s decision that carrying this one out would: “undermine U.S. global leadership and investment in the life sciences”. A variety of people have spoken for and against the decision. The New York Times just wrote an article citing several of them.

The US government filled a “friend of the court” (or “Amicus curiae”) opinion entitled: ”BRIEF FOR THE UNITED STATES AS AMICUS CURIAE IN SUPPORT OF NEITHER PARTY” (you can read the pdf here ). As expected with these types of opinions (see Wiki)- and indicated by its title – the intent was not to support either of the parties. The last point listed in the government’s opinion constitutes a good summary: “Isolated Genomic DNA Is Not Patent-Eligible Merely Because It Is Useful Or Requires Investment To Identify.”

As someone who has dedicated her life to improving human health: I understand the need to recognize and reward discoveries, so that they may continue to advance the available diagnostic and therapeutic interventions. At the same time, in my opinion, a balance needs to found – or maybe a line needs to be drawn. Otherwise, these innovations will remain out of the reach of many patients who need them. The exact balance may not be easy to figure out or accept by consensus.

To what point should we own things we just happened to be the first to discover/figure out? Should various entities (researchers, universities, companies) own pieces of everybody’s proteins, DNA, or maybe their constituent atoms, electrons or the even more ephemeral particles and their interactions? These are all things that make us us. Or, going in the opposite direction, should each disease/syndrome or epidemic have owners that need to be paid before we could proceed with curing them? Am I right to assume that in such case, arrangements and payments would need to be exchanged between the owner of the gene and the person who had discovered the disease, with corresponding arrangements with those who had patented the smaller molecular or atomic pieces of the puzzle? How are we ever going to navigate such complex territorial and legal claims? Maybe Google could develop maps of the human body charting out the parcels to indicate ownership? I am on the opinion that we should only own things we create ourselves. In relation to this specific discussion, I think it is appropriate to own the rights to a new method to test or to control a gene, or a newly created molecule that could be used for diagnostic or therapeutic effect.

I know patients who were unable to take advantage of the BRCA test because of its prohibitive price and who knows how many more cases we might have failed to diagnose and treat because of these legally imposed economic barriers. Can you imagine that currently the actual cost of performing such a diagnostic test is only a few dollars? Would it be possible to compromise by assessing limits on the profit margin of diagnostic tests? I feel that we need to ensure that the initial intent – or what many say is – of our efforts to improve human health is not compromised.

What is your opinion? Should those sequencing one of the genes we all share – and its mutations – gain the exclusive rights to any diagnostic or therapeutic intervention that is related to that gene? Do you know who owns YOUR genes?

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You guessed it! Location, location, location

A new research study from my Alma Mater, McGill University in Montreal, demonstrates major DNA differences between genes in blood cells and tissue cells of the same individual. Specifically, the researchers found a DNA mutation (of the BAK gene involved in cell death) in the tissue cells harvested from patients, but not in their blood cells. This study and other recent ones challenge the major current assumption under which we have operated for years, i.e. that our DNA is the same in all the cells throughout the body, a specific master template faithfully reproduced in each of us. We are not talking cancer where local mutations are known to occur in tumors. What does this mean for you?

–       As a researcher, therapy and/or diagnostic developer, etc., it means that you will likely have to look in the right place in the body, analyzing “the right” (relevant) cells. This is exciting, as it opens up a lot of potential great discoveries, cures and diagnostics. It is also good news for those who had set up or already work with tissue banks (is anybody reading: much more work needed? are we going to run into the needle in the haystack issue?)

–       As a regulator, decision maker, media, etc. you will have to realize that there is much more to come, so you might want to give it a chance… Many have begun not only to openy question the wisdom of genetic testing to derive disease associations, but to actively block any initiative along these lines.

–        As a patient and consumer of health innovation, you might have to be willing to allow removal of tissues (other than blood) from your body for accurate genetic testing. Only you can decide if that is good for you…

Yet another dimension is being added to “personalized medicine”. The biology of our bodies includes features that are manifested and influence locally and systemically (globally). The genetic information is less global than previously thought. Thus the testing, treatment and care will need to be not only tailored to the individual, but also to the specific tissue/body component affected and targeted for prevention or cure of the disease.

So, coming back to the old tried and true wisdom, when it comes to our most precious piece of real estate, our own body, we will need to chose wisely the location (of genetic testing, treatment, etc.)…

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Can anybody become an innovator? Are innovators born or made? How much of the ability to innovate is dependent on learning from luminaries and from how many of them? Of course, one might ask first the question what innovation was. As I have pondered on that question in my first and other earlier posts, for the sake of briefly let’s just use the shortest definition of innovation I can come up with: “practical creativity”.

One could argue that you have to be a special type of person to innovate. Certainly, some are better or more efficient at it, but then again the difference might be that the others just have not been coached or encouraged to try.

One lesson that I would like to share is that it becomes possible to innovate when you realize that all it may take is connecting your gifts with your passion, your values, or what some might consider to be your ultimate goals. The more unlikely the combination between your gifts and your passions, the bigger chances you will be able to innovate – once you allow yourself to operate under this paradigm.

Here is why I think this works: you bring your strengths and then pushed by your motivation you will do your best to make things happen. Because you are passion-driven, you are willing to do what it takes, even if your efforts might not be encouraged and/or you might fail at first. Along the way, you will likely discover what else might be needed, e.g., what you might still have to learn or to be able to do, where do you need to be, with whom you need to associate… No doubt it helps if along the way you encounter people who make your discovery journey more efficient.

I think that real life examples are always useful. Should I talk about my innovation gurus and the insights gained from them? I’d rather not bore you with a list, so I will just mention the one I think to be my first… my 5th grade physics teacher! Somehow she made physics appear so cool and creative, yet useful. I was already studying art hoping to become a fashion or jewelry designer (“wearable art”?) but I was then encouraged to think I might be able to fulfill my inclination for creative endeavors AND in the same time satisfy my strong desire to help people (not only to look better)… Shazam! I could become a biomedical scientist.

I have continued to be fascinated by art and fashion, but went on to use my creativity to design therapies instead of clothing (the idea of personalized medicine is not that different from the idea of wearing clothes that really fit each of us, is it?) I have often gravitated toward art, even when doing science. By finding ways to discover and enhance the intricate beauty of the human body, as seen through a microscope or other imaging instrument, including developing a visually stunning technique to assess chemical reactions triggered by disease, I was able to stay close to practical art while in the same time fulfilling my passion to help people by designing strategies to diagnose medical problems and to enhance their health.

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Now and then a scientific discovery about the human body captures the imagination of large audiences like the recent discovery that remnants of our “baby fat” are able to effectively convert calories into heat. For a long time we have assumed that adults completely lose all their brown fat and its benefits, but it turns out some remains in our upper back, in the dip between our collarbones and shoulders and some along our spines. Wow! How could we have missed it in this era of advanced medical knowledge and sophisticated diagnostic imaging?

The news hit hard the media and everybody’s soft spot (no pun intended!) in the same way as the good news that red wine and dark chocolate are actually good for your health (I am continuing to drink to that!). There were many reports describing the “cool new way to lose weight”. The research suggests that a few ounces of brown fat can help burn up to 400 calories a day, the equivalent of one hour of vigorous exercise, if we would simply turn down our heat a few degrees. Imagine being able to lose all those calories, or if you would prefer, being able to ingest an extra half (!) of a burger, by being willing to… shiver a little bit. People responded enthusiastically: could we maybe completely count on our good brown fat to take care of our bad fat, potentially trading our pot belly for a discreet hump?

Our own body might be showing us how to innovate, potentially turning our current assumptions about strategies to lose weight on their head. You can bet creative scientists and agile entrepreneurs are already planning experiments and setting up companies to analyze, detect, stimulate, regenerate, or recreate brown fat.

Why all this buzz about the recent discovery?
It’s fresh and unexpected, defying our current assumptions about ourselves and our ability to know it all.
It is apparently easily accessible.
It could immediately address one of our huge problems, the obesity epidemic.
It’s apparently painless for the consumer.

I went on to wonder: could this also be a simultaneous solution to our obesity problem and our energy crisis? People could be spending less energy heating their homes, maybe they would be willing to live in colder places? My son, the keeper of the truth, immediately reminded me that in the longer term, the effects of global warming might limit the existence of such places. In the short term, he said, with the summer coming to the Northern hemisphere, creating lower ambient temperatures could only mean people are going to use even more energy to cool their houses.

I hope this new science translates into innovation, I have always thought it was beneficial to preserve some of our childhood magic no matter how old we get. For some this might turn out to be a life saver. Meanwhile, I’ll be sticking to my rowing routine I already know is an effective way to burn those irresistible dark chocolate calories I ingest daily. Given the choice, personally I’d rather spend a little time in the sun (producing more vitamin D!) than shivering all day long anyway.

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Personalized medicine is going through the usual cycle: from an “out-there” idea to a buzz word, to current band wagon everyone must get on. If we must, we must… but as it turns out, there are many wagons introduced as “personalized medicine” that are pulling into the station… Which is the real one?

A major obstacle is that personalized medicine means different things to different people. However, that should not be a deal breaker (yet) because nobody can claim to have the whole or the only correct picture of what it should look like. There are many considerations, including scientific, economic, political, and ethical, which had been intelligently discussed in other places. I only want to bring up one issue that seems basic, yet hopefully we all realize it’s a sine-qua non for realizing personalized medicine. This issue has everything to do with the common denominator of all the various visions of personalized medicine: YOU, the individual patient. The individual patient is emerging from being lost somewhere in the average value derived from the many participants in a humongous clinical study, to being the sole focus of attention in the development of an individualized health strategy. Each patient is about to become special (not only to his mother!).  Wow! Now what?!?

In developing a personalized therapy and a whole personalized health strategy for you as an individual, we are now going to need the complete medical picture of you. A big question becomes how could someone get all medical information that has already been collected about each of us? If you are like me, you have moved a few times and thus you’ve changed your primary and other specialist physicians; you had a few different jobs offering different health insurance plans. If you are like me, you might have seen these health care workers/places only once. You might have had specific medical tests done more than once, but chances are that many results were never looked at comparatively. However, an increasing number of experts are agreeing that we are indeed so different from each other, that the real value of various test emerges by comparing longitudinally the values collected at different time points for the same person/patient. The opportunity to harvest this value from my test has been certainly lost in the many shuffles of my paper medical files. I say this because I unsuccessfully tried to extract my own medical information from previous providers. I then checked on their obligation in terms of time for which the records needed to be kept. Did you know this is not officially specified? There goes all the time I have spent repeatedly filling in similar questionnaires, all the time and money spent on all those repeated tests. Unless one has been really obsessive about it, one’s medical picture (get an idea of what this might contain) is a puzzle with pieces scattered or even buried or lost all over the place. In my case, the only thing I’ve received were postcards simply stating that there was nothing special to note about my tests, no numbers for my own personal records. The inherited fragmentation of the health care system in the US is currently a major barrier to personalized medicine. Various types of medical information currently collected throughout one’s life, along with new genetic information (equated by some with personalized medicine) could be added up to create the overall medical picture of oneself. This IS the basis for any rational strategy to personalize prevention or therapy of one’s medical problems. 

Now we come to the other important part of this question: are we willing to let all this information about us be gathered and put to use? Economical and ethical considerations among others put aside, is the current mind set in the US itself undermining the patients’ willingness to let a complete medical picture be put together and “immortalized” in a personal electronic format?  Many personal topics are off limits even among good friends, a preference that applies of course to personal medical information. Since living here I learned that people place great value on “personal space”. People do not want to feel cramped in any way, spatially or physiologically. In addition, the individual’s uniqueness further fades away by the wide application of a great equalizer. When it comes to first names, one of our most personal and defining feature, many Americans prefer generic names. Foreigners are likely to have to accept one themselves, or maybe some short version of their name. I myself was re-baptized by associates “Dr. Z” (or even just “Z”). I had to accept it at some point (I like my first name!), figuring Dr. Z should be unique enough to represent me. Then one day, I was surprised to learn that my personal physician had voluntarily and officially changed his fist name to the initial Z and shortened his last name to the first few letters, exasperated by complains about needing to remember or pronounce his actual name.  Dr. Z here to see Dr. Z!”… It did not end there, a friend signaled that she had heard of another Dr. Z (this one of a “certain” fame). So, apparently I had managed to become one of the generic Drs. Z…

Does anybody still harbor the hope we could achieve personalized health care without comprehensive personal health records?  A lot of people will need to get comfortable soon with the idea of allowing the collection and use of the information that makes them unique from a medical point of view, or else there can be no personalized medicine.

Please comment here (constructively interfere) and/or join our discussion at BIO2009.

See more: articles on personal health records  from Medline Plus A service of the National Library of Medicine and National Institutes of Health (NIH) and FAQs about your health record

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Life sciences and medical practice have made tremendous advances, creating the opportunity for great medical innovations that will allow us to cure most major diseases, and live healthier, longer lives. Yet, what is known as the “unmet medical need” continues to outweigh our capacity to find viable solutions.

What are the major, maybe specific, challenges that confront this type of innovation? My take is that the best chance to come up with solutions will come from genuinely seeking to understand all points of view and by working together to overcome barriers amongst the major stakeholders in the process, a fine example of “constructive interference”.  Reportedly a similar view was recently publicly expressed by Andrew von Eschenbach, the outgoing head of the U.S. Food and Drug Administration. Miriam Hill cited him on philly.com saying: “the drug industry will have to break down the walls not only between competitors but between big drug companies, smaller biotechnology firms and medical-device makers. The era of personalized medicine will require diverse types of companies to cooperate to generate solutions for patients, acting more like a team than individuals focusing on their own products. ‘They’re all playing golf,’ he said. ‘They need to play basketball.'”

At the upcoming Biotechnology International Conference, BIO2009 I had proposed and will be facilitating an interactive discussion between representatives of major stakeholders on the topic of: Fast forwarding life science innovation: what works, what doesn’t, where do we go from here. Meanwhile I am seeking to gain a better understanding of different points of view through this blog.

To get started, I will offer several perspectives on the current challenges I have gained from the different standpoints I came across during my work in the area of life science innovation, and as a user/consumer of medical products. Check the accompanying postings following this one. Hopefully they will be stirring enough, please do interfere!

The other posts regarding various perspectives: consumer, scientist, developer, investor, can be found by clicking on the BIO2009 category/tag under this post or in the tag “cloud” on the right hand side menu.

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We all are, have been, or will be at some point in our lives, users/consumers of medical products, that is unless someone is a “Superman/woman”. We all have thoughts and specific opinions about what we would like or expect. Two great examples were provided by answers to my previous request to define medical innovation. Kathy said:” From a consumer perspective, I want to see new products and care that consider the quality of my life and my body – not the statistical average”. Allen Fahden commented more broadly in response to the same:Life science/medical innovation means to me that the model of reaction to failure gets updated with preventing failure.” Kathy is expressing the growing support for “personalized medicine”, Allen is touching upon the need to shift more towards preventive medicine.

My own view as a consumer is that I subscribe 100% to these two goals. I should say I did not know or discuss with either Kathy or Allen before they offered their visions on life science/medical innovation. Let’s see what might be the answer to these opinions from the other perspectives.

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