Sharon Terry

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

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