Chairman Wu, Congresswomen Edwards and Biggert, and Committee Members. Thank you for this opportunity to testify at this hearing on the National Institute of Standards and Technology.

I ask that my written testimony be accepted into the record.

Today you will hear from accomplished researchers and leaders in their fields of study from Duke University and Stanford. These individuals are scientists, entrepreneurs and biotechnology innovators.

I come here primarily as a mom. I am here today to address the critical link between my experience as a mother striving for treatments, for my kids and millions of others, and the question before this Committee — How our National Institute of Standards and Technology can more effectively influence innovation in life sciences.

I begin with a plain statement about NIST and its activities — it can appear to be boring, non-interesting, and terribly esoteric. NIST suffers from being hidden, embedded into the foundational infrastructure of the scientific and early commercial enterprise of innovation, as well as having the thankless task of creating measurement standards for a whole array of scientific disciplines. However, it is precisely because of these elements that this Committee needs to champion a more active role for NIST in the life sciences.

Some have argued quite convincingly that the next century of scientific and technological innovations will be most profound in the life sciences. NIST is critical to a robust biomedical enterprise and must contribute high quality materials, methods, and expertise for the field to advance on a platform of certainty and high quality measurements.

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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

On June 17, 2009 from 12-4pm EST, individuals in the health community will come together for an urgent meeting on Healthcare Reform. This meeting was convened in an open partnership between health organizations, in response to the growing dialogue on health reform.

The impetus to pass comprehensive health reform legislation continues to grow as an energetic Congress and new leadership in our federal health agencies provide unprecedented support for expanding access to quality healthcare. The road ahead is both exciting and full of the unknown. Congress is promising passage of healthcare reform this summer.

Now is the time for us to come together in urgency and openness to articulate our shared principles that focus reform on what truly matters: improved health for individuals, families and communities.

Bloggers representing each of the co-conveners will be posting on this blog in preparation for, during, and after the urgent meeting on June 17th. We invite you to join the conversations posted here by sharing your ideas, energy, and suggestions for how we move forward in this process. Push each other to think about big picture issues in health reform and how they impact us all.   You can post here or at: Inform Health Reform Blog. In addition to using this blog for virtual participation, you can follow the meeting conversation on Twitter! Follow and contribute to the conversation by using hashtags #healthreform and #hcrmtg for your tweets.

As we move into healthcare reform, it is a good time to consider how we define health. In a series of recent salons* across the country, Genetic Alliance Council and Staff have found that all roads lead to a discussion about how to define health.

Defining something is useful, especially when we are trying to understand each other.  As we begin, inevitably seek to make health small, and to find common ways to describe it.  In these very diverse salons, with individuals affected by disease, others with disability, and still others from companies, policy think tanks, academia and so on, it is not easy to express health in a manner that speaks for everyone.

Inevitably we begin with an absence of disease – but quickly the medicalization of health is too limiting for most of the salon participants.  In an attempt to understand the expansiveness of a non-medical model, it becomes difficult to contain health.  Therein lies the joy.  Health soars in such a conversation, and it is allowed to lose its boundaries.  It no longer requires an absence of disease, and that is so freeing.  In San Francisco’s salon, health was articulated best as JUSTICE.  And in Boston, it filled the room as WELL-BEING.

We begin with health, then we will move to ‘care’ and finally we can re-form it all.

Salons
As a means of transformative visioning, Genetic Alliance regularly holds salons, similar to the 17th – 19th century gatherings of intellectuals and other eminent individuals. In our case, individuals are not chosen for their expertise or the expansiveness of their resumes, but for their characters and their reputations as open-minded, curious, and willing to explore all sides of a given issue. Salons are fueled by the mechanism of open space, allowing unfettered thought and discussion; we leave our certitude and intellectual property at the door. Through our conversation, we realize more than any one of us could have done alone. This is our chief aim: transformative knowledge through conversation with others. We have held several of these salons. The salons are an increasingly useful way to practice openness and transformation; dynamic interaction around rigorous topics inevitably leads to disruptive and exciting solutions.

Upcoming salons: http://www.geneticalliance.org/ws_display.asp?filter={0C94D727-0E7A-44E5-8FC2-5D7E06FA5445}

Genetic Alliance staff engaged in a conversation recently about transformation of the healthcare system.  Although we intended to point without us, and find challenges and opportunities for the new administration to ‘fix’, we discovered what many are discovering these days — change begins with me, with us.

The Genetic Alliance staff has a strong interest in health.  We are individuals familiar with the healthcare system: whether through our own personal experiences or those of our family members, our work in health systems, diverse stakeholder engagement, and our commitment to improving the lives of individuals, families, organizations, and communities affected by genetic conditions.  We also have a unique vantage point through our dedication to accelerating the translation of research discoveries to treatments and therapies.  We identify disruptive innovation as a tool for achieving great beneficial impact on systems — we are disruptive women and men.

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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…)

Being a disruptive woman in health care feels very different today than it did yesterday.  I am shocked at the difference.  I did not expect it.  Even while I knew that the election would be significant, I could not have predicted the seismic shift within me, my family, my friends and my organization.

Yesterday, I would have written about the wonderful sense of camaraderie I feel with the other disruptive woman in this blog and beyond.  I would have written as someone in exile, who must fight the revolution to be heard, to make a difference.  I would have written feeling very much ‘other’-ed by the mainstream structures in health.

I imagine that this grew out of being the mother of two kids with a rare condition that the world might never recognize as important, or work to mitigate, except for the work our disease advocacy organization has done.  One could postulate that the other-ness was a product of being a fish out of water in the health care community – I come to it simply as a consumer, no science degrees, no elected career in this field – simply the mission to ‘transform health through genetics’ – the mission of Genetic Alliance, of which I am a part.  I knew some of my otherness was a result of feeling that the current administration doesn’t care about health care the way I think it should. (more…)

Ah, US healthcare. It is rather a shocking question to ask what we might preserve, encourage or replicate. But it is an essential systems-level question, because if there is nothing to name (which might be one’s first reaction), then there is probably no realism in the idealism many of us have for change.

I struggle to name something to preserve. I don’t even like the word – it speaks to me of mothballs and museums. Or perhaps that is what we should intend, let’s put the antiquated systems, the major gaps and disconnects, the huge disparities and inequities in mothballs. Let’s preserve them in a museum, to remind ourselves of what a mess we made of it. And let’s disconnect them from the whole, so they cannot damage it any further.

I heartily encourage innovation in healthcare that takes advantage of strong social trends: the Long Tail, social networking, the generosity of information sharing in programs from large to small. We have examples in the Human Genome Project and Facebook Causes. I encourage the most imaginative and disruptive of the current systems to grow in influence, and for us to provide systems around them so they can flourish. Some of these systems are on the ground, in the new space created by imaginative solutions. They are affinity groups, community-based organizations, and consumer-directed projects.

This leads me to what we should replicate. We should replicate the successes, but not without a critical eye to the future. Looming before us are not only dysfunctional systems, but also vast amounts of information, new technologies, and phenomenally creative minds. The systems, programs, and projects that are working need to be proactively attentive to the future, and need not to fall into the trap of complacency, competition, and territorialism. We need to replicate the disruptive innovation that has been a hallmark of good work in the world since the beginning of time. We must look for leadership that has blown open the doors and transformed systems; and replicate not their work, but their ability to identify places where potential energy is waiting to be transformed into kinetic energy.

I say to the new President and Congress: your task is not to play the hero leader, but instead to discover how to unleash the full potential of the people – from the community leaders, to the heads of companies and agencies – by keeping your eyes on the prize in all cases, and witnessing to the deepest truths. Dissolve boundaries, and we will all be freer to lead.

Leaders have a particular burden, and all too often it is mistaken to be one of power and perfection. It is about authenticity, about community, and about compassion. That, with decisive action, measured against the ultimate goals, will transform health.