Significant Science

It is around 4:30 a.m. here in Bethesda, Maryland and I am sitting at my little netbook and writing this before I tackle the task of packing (uuuuugh) before I head home from my time here at the 2010 Genetic Alliance Annual Conference.

As I often do when at conferences, I reflect on how lucky I am to have attended that particular one and think about what those in other professions might benefit from attending it.

For instance, I belong to that that strange species, the librarian without a library. That is, I work for a center for health research and quality as a research information technologist and think of myself as a librarian but spend a great deal of time in the land of Web development and working on the free services for those in the health sciences, ResearchRaven and and ScanGrants. 

Because I work on tools for researchers and students in the health sciences, I have to hustle (which entails sitting and writing about myself to an excessive extent in the wee hours) to keep up on what is going across a range of fields such as basic science, clinical research, disease advocacy, the use of the Web in healthcare, Web science and science on the Web/online science (the first being the  study of how people use the Web and the second being how science is being done on the Web) , public health, disability research, information science, community health and public policy.   And that is just a partial list.

And I can’t think of organization that possesses such a wealth of talent, provides such a range of services and gets so much done vis-à-vis health policy and disease advocacy level at the national health levels and in terms of moral support for its diverse membership as the Genetic Alliance.

Its membership encompasses sizable disease advocacy groups with large staffs and fairly robust budgets to tiny ones run on a shoestring by the devoted family members of those with a disease so rare that only a few hundred cases are known to exist at any one time internationally to those in the fields of academia, biotech and the life sciences, government, health and science policy, citizen activists/thought leaders, policy analysts, scientists and clinicians and again, the family members of those with rare disorders who have been plunged into the world of nonprofit management and health policy activism and now have to speak the language of genetics and genomics simply out of love for a child with, say, a chromosomal or metabolic disorder.

I have been struck here by how slowly and clearly the many parents who lead such foundations pronounce the name of the condition their child has and how articulately they can explain it (e.g., “NBIA stands for Neurodegeneration with Brain Iron Accumulation (NBIA) disorders….”) which probably comes from long hours of lobbying at every level of government, addressing community groups, chatting with potential donors, working on educational materials and Web sites devoted to the illness and so on.

And these parents (and raising any child requires devotion, not to mention raising one with a chronic disease and/or disability) have had to master not only the terminology of that particular illness but the rapidly changing scientific landscape as the field of genomics has advanced. They also have to school themselves in the minutiae of running nonprofits, which covers everything from fundraising to grants management to tax law and privacy regulation. Oh, and throw in mastering the intricacies of the art of effective social media use, Web site operation, public relations, volunteer management, burnout prevention.

As someone who spends huge amounts of time visiting the sites of the members of the Genetic Alliance looking for grants, fellowships, science prizes, calls for papers for scientific conferences and announcements of such conferences to list on ScanGrants and ResearchRaven, it has been fascinating for me to actually meet the people who run these groups and to sit among them as we all listened to the amazingly diverse groups of experts from such federal agencies as the Centers for Disease Control and Prevention’s Office of Public Health Genomics, and such entities as the National Human Genome Research Institute.

One of the sessions featured a talk by Jean Jenkins, a nurse researcher, about G2C2, the Genetics/Genomics Competency Center for Education.

Jenkins made the point that genomic applications in healthcare are increasingly relevant to the day-to-day delivery of care to patients by all health care professionals and has helped create a centralized web resource on that topic for nursing and physician assistant educators. I thought of the many nursing students who passed through the medical library I used to work in and what a new world they will all face as genomics know-how becomes de rigueur in all healthcare settings. The Genetic Alliance excels at public and provider education on such fairly arcane but soon to become common enough concerns in our healthcare experiences, as professionals and as patients.

As I said above when I attend a conference, I think who might have benefitted from also attending it. Here is the agenda—look for yourself.

Offhand, I would think that nurse educators, nurse researchers, health educators, public health workers, health economists, physicians, lawyers in the field of health law, professors of public policy (they could learn a thing or two from the advocacy prowess of the Genetic Alliance) and technologists would all benefit from face time with so many federal and state government people who serve on the advisory boards and committees and bureaus that make policy.

My particular passions and hobby horses, for instance, are Open Science, Open Data, Open Access and Science 2.0. What struck me the most by attending the Genetic Alliance conference are the common interests that the Open Science and Genetic Alliance communities have (e.g., advancing medical and scientific research). What does the Genetic Alliance bring to the table in that regard? Well, sheer brainpower and ability when it comes to public policy in the fields of science and medical research with an impressive track record, such as an instrumental role in the passing of Genetic Information Nondiscrimination Act (GINA) of 2008.

And much of the Open Science agenda will require allies in policymaking circles, given that so much of it is predicated on the exchange of information, funding for higher education and cyberinfrastructure and scientific research. And I can’t think of a better ally when it comes to perseverance and expertise on matters scientific and legal/legislative in the medical research realm than the Genetic Alliance.

And, as I have found of leaders of the Open Science movement (like Jean-Claude Bradley and Bora Zivkovic), the leaders and members of the Genetic Alliance are just plain nice people. I talked to many people who, like me, had never attended the conference before and we were all struck by how pleasant the staff is. Likable, bright, enthusiastic, committed to the cause of helping all of their members from simple moral support in a dismal era for nonprofits to the creation of innovative, practical tools and an increasing array of Web-based repositories both of educational materials and biological materials.

Just as example of how niceness is a big factor in the success of the Genetic Alliance, one of the traditions of the conference is the appearance of Francis Collins, now head of the NIH and one of the giants of the fine art of science administration and a major figure in the field of genetics. I have read about him over the years and of what a decent, lovable caring person he is and he is certainly beloved by the genetics community, personified by the people I met at this conference.

Collins was very approachable—he simply appeared with his guitar and sang songs of the Bob Dylan/Pete Seeger variety and invited one and all to join in. And several of the songs were takeoffs on academia and genetics (not, one would think, promising material or hilarity) and very funny. Much laughter and merriment.

I am a rather conservative person and don’t usually go for “Kumbaya Moments,” but I got quite tearful at one point (actually, tears were streaming down my face) as Collins sang about good people and I knew the room was filled with researchers and family members of the ill or dead from genetic diseases and with students embarking on careers in medicine and genetic counseling and I thought of all those years of study and board meetings and letter writing they had cumulatively put in.

I thought most of my beloved boss in the medical library and her recent death from ALS and I finally worked up the courage to tell Dr. Collins how much Dorothy had meant to me, how she had taught me to use one of the NIH’s finest tools, PubMed and how grateful I am to him for his work in advancing scientific research on ALS and other diseases in his time in government. I got tearful and must have seemed a bit peculiar. But he made me feel quite at ease and just said softly something along the lines of, “We will do whatever we can to fight those diseases.” It shows the high regard the president and CEO of the Genetic Alliance Sharon Terry is held in that a man of the stature of Francis Collins and a man that busy came to hang out with her and people lucky enough to have attended this conference.

I have to pack up now to head home later today. I am happy to report that the session Science 2.0, Medicine 2.0, Health 2.0, and Open Science: The Revolution is Now I helped lead went well. I talked too long and interrupted the attendees. (Ooops!)  But I was impressed by the ideas generated for possible Open Science projects and was grateful for the interest shown in that important topic. Everyone in the room was supportive and patient. Never has one person been rescued by so many people so often. (I have an unfortunate habit of misplacing glasses, hearing aids, etc.)

I learned a lot here and leave with ever greater respect for disease advocacy groups.