I’ve been tasked with presenting the genetic and rare disease perspective on comparative effectiveness.

I’ll dispense with ‘rare’ right away.  If by rare, we mean single gene disorders, then perhaps it is a useful designation.

If by rare, we just mean the equivalent of the US definition of orphan disease, i.e., less than 200,000 people in the US, then we should ask a few questions. In the old model of test and drug development, the ‘block buster, body count’, model, rare was a useful designation.  In a system built for BIG, then rare needed a boost.  In the new age of personalized medicine, all conditions are rare. In fact, they are usually an N of 1 after factoring in the myriad of genes involved, epigenetics, environment and so on.  As we enter new ways of dealing with common conditions, they too will be fragmented into dozens, sometimes hundreds, of rare conditions.  Thus rare and common conditions have similar challenges in that realm.  For these reasons, I recommend we lose the word ‘rare’.  I know it has a rich and abundant history in the Orphan Drug Act, but in addition to the aforementioned issues, I think siloing our thinking around disease into these social constructs of abundance of disease misses opportunities that would blossom were we to consider gene families, pathways and targets instead of incidence and prevalence.

Let’s move then to single gene disorders.  Comparative effectiveness would have to go on unemployment if it depended on single gene disorders for its first tasks.  Most single gene disorders do not have a treatment, let alone several.  And once one is developed, it is hard for a second one to be developed given the lack of financial incentives in the old paradigm.  Perhaps a first step in comparative effectiveness for single gene disorders is creation of ANY treatment for these conditions.

On to genetic conditions.  I think genetic conditions have already been spoken for in all of the preceding posts – because all disease is a mix of genes and environment, and so all of the conditions spoke about, either explicitly or implicitly, are genetic to some extent.  That said, I believe genetic diseases, and genomic signatures of attributes of disease, like tumors, offer ways to quantitatively measure expression thereby offering a new level of scientific scrutiny for disease.  While most genetically and genomically authored tests and treatments are nascent and have not yet been scrutinized, we are seeing some assessments of genetic tests, at least.  These are not complete comparative effectiveness studies, but they use methodology that might offer something to the field of comparative effectiveness.  If the field does use methodologies like those of EGAPP, then it will be important to do a broader assessment of the methodology before wide spread implementation.  From the website, “The project’s goal is to establish and evaluate a systematic, evidence-based process for assessing genetic tests and other applications of genomic technology in transition from research to clinical and public health practice.”  There are those who ask why almost all tests that EGAPP has assessed have failed to meet the requirements to pass into clinical practice, when some of these tests have done so in a variety of ways.  EGAPP is a good example of how hard it will be to do comparative effectiveness, since its assessment (far from comparative effectiveness) is so difficult, resource and time consuming.

However, I look forward to our foray into comparative effectiveness.  I believe it is time for the practice of medicine to move from being a cottage industry.  Comparative effectiveness, coming of age in the genomic/informatics era, while we move toward individualized medicine (commonly known as personalized medicine), will be an effective tool if, in the words of the post by Randel before me:

“A fair, open, cooperative public/private process, if designed properly will enhance the information needs of patients, physicians, and scientists and eliminate wasteful and ineffective medical technologies and procedures. Implemented without a fix of the payment system, however, the fear that this may stifle access and innovation will be realized.”  If we wish to move medicine out of the cottage industry realm, reimbursement has to come too.  There are exciting months ahead of us – let’s not call each other names like rare or common, genetic or infectious, popular or unpopular.  No disease, condition, or disorder should be left standing around the edges of the dance floor while the rest are dancing.

Stay tuned to the collaborative discussion about health reform resulting from the flash mob on June 17, 2009.

Inform Health Reform

http://fastercures.blogspot.com/2009/06/fastercures-joins-healthcare-advocates.html

One of the best things about blogging is the opportunity it provides to “meet” some incredible people. I’d like to introduce you to one of them, Carrie Ostrea, Hannah’s mom. Hannah was born with Gaucher’s Disease—a rare disease. Carrie is on a mission—she shared the following with me and asked if I would help “get the word out” about her efforts, her Hannah, and her hope to make change. A Disruptive Woman in every sense of the word.

To learn more, read on:

It is so important to me that awareness be created regarding the Ryan Dant bill as well as rare diseases such as Gaucher’s Disease. That is why I’ve dedicated my blog not only to sharing updates with family and friends, but to create awareness for rare diseases, legislation, and other life experiences raising a child and family with unique special needs.

Here are some details regarding the Ryan Dant bill. I have actually been emailing with Mark Dant, Ryan’s Dad, about getting Hannah very much involved.

Basically, the bill will remove the income requirement for Medicaid if the applicant’s medical treatment would cost more than $250,000 a year (Hannah’s medication will cost about $250,000 to $300,000 a year as an adult, and that doesn’t include doctor’s fees, other procedures, therapies, and surgeries). If Hannah was a young adult, she would have to get a low-paying job (poverty level) in order to get Medicaid for her treatments because there are very few insurance companies that would accept an adult with that kind of insurance cost.

Here is a copy of my letter.

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In the spirit of President Elect Obama’s/HHS Secretary Designee Tom Daschle’s efforts to mobilize a grassroots “get out the health” series of house parties, I am re-posting my first Disruptive Women post:

My Top 10 Priorities for the Next HHS Secretary (NOTE: this was written prior to the selection of Tom Daschle–not surprisingly, I was holding out hope for a woman–no offense to Mr. Daschle):

The next Secretary of the US Department of Health and Human Services (DHHS) will have a plate that is not only full, but is overflowing. While all the political rhetoric is focused around access—health insurance for all—there are a number of other critical areas that need immediate attention as well.

Clearly there are many more than 10 priority areas. However, if I just so happened to find myself sitting across from the next Secretary of HHS, I would remind her (just indulge me on that) that she is the Secretary of Health AND Human Services—that for her to make a dent on the health side of things, she must take into account whether people have: the support systems they need, heat, a home, transportation, enough to eat.

Here is my list of the top 10 priorities, in no particular order:

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Transforming health through genetics. That is the mission of the organization I lead – Genetic Alliance.  Almost 5 years ago I took on the leadership of this organization.  I had some strong inklings at the time, about transformation, about health.  While I was developing Genetic Alliance’s path to transformation, both internally and externally, with some phenomenal colleagues, the world around us was changing in similar fashion.

I sometimes see genetics as a leading edge, a knife that is cutting through the old, crusty, barriers.  It does this perhaps because it is new, but after leading with the novel edge, it has a great deal more punch.  I believe it will be an innovative disruption (a la Clay Christensen) because the health care system will not be able to adjust enough to fit its value inside the system (or lack thereof).

Starting with the power of understanding family history (still perhaps the most powerful genetics tool) to the sophistication of personalized medicine (using genetics and genomics to tailor diagnosis and treatment), genetics and genomics will both buoy and stress an overstressed healthcare system.  It is time for change.  It is in the works, on the drawing tables and in people’s hearts and minds. (more…)

So-called “medical homes” are finally receiving national attention from the Centers for Medicare and Medicaid and foundations after their purported inception over 30 years ago by pediatricians (home care nurses have been coordinating health care for people with chronic illnesses for more than a century). But we’re about to make the same mistake that we’ve made in developing other approaches to improving health care nationwide—we’re medicalizing it, instead of focusing on health.

Medical homes are proposed to be primary care practices where people can get help with coordinating their care, particularly for chronic illnesses. The U.S. health care system emphasizes specialty practice rather than primary care. It’s one of the reasons why we pay more than any other nation for health care but have outcomes that lag behind those of even moderately developed nations. If I have diabetes and heart failure, I go to one specialist for treatment of my diabetes, the cardiologist for my heart failure, the gynecologist to get my annual GYN exam, a podiatrist, a retinopathist or ophthamologist, a dentist who may prescribe medications before and after procedures, a shrink to help me cope with this mess, and possibly others to screen my various body parts for myriad diseases. Each is prescribing medications that may interact in adverse ways. In fact, I may end up with a costly hospitalization because of these adverse effects. No one knows all of me or focuses on my overall health—unless I have a primary care provider who can oversee all of these specialties, follow all of my treatments and medications, and coordinate my care. (more…)

Shortly after the passage of the Genetic Information Nondiscrimination Act, in the 110th Congress, a reporter asked me why I thought the bill was so important. I pondered the question briefly and replied, perhaps in a way she was not expecting, that I felt we now were poised with an informed congress who better understands the potential importance of an individual’s genome information.

To take that thought one step further, I believe this landmark legislation and the thirteen years which led up to its passage have provided our country and our citizens with a renewed energy to guide our congress once again to build the next story – providing our citizens with the potential for better and more personalized healthcare.

Earlier this month, we once again saw the topic of genomics and medicine brought to the halls of the 111th Congress with Representative Kennedy’s introduction of the Genomics and Personalized Medicine Act of 2008 (H.R.6498). The bill originally proposed by Senator Obama in the 110th Congress once again brings new hope for patients and signals that scientific innovation is important in our country.

As a scientist who is passionate about the ability to use the knowledge of the genome to improve human health through better disease diagnosis and treatment, this legislation let the debate begin.

I am anxious to see once again how science and technology can disrupt the future of “health care as usual.”

I look forward to sharing our progress in this field of personalized medicine and sharing my experiences in both the pharmaceutical industry during my time at Pfizer and in my new role as the CSO at Helicos, an innovative single molecule DNA sequencing company poised to play a key role in our path to the future.