The Power of Public Access
Catherine is a woman I met through my fieldwork in communities of people living with rare disease. When she was pregnant with her second child, she couldn’t shake the feeling something was wrong.
During a routine sonogram about midway through her pregnancy, her doctor identified bilateral choroid plexus cysts, or CPCs, which can be an indication of Down’s syndrome and other conditions. Or they could indicate nothing at all. Her doctor reassured Catherine that the marks were likely a meaningless blip on their radar screen.
But intuition told Catherine to look more closely.
As she says, “I’ve always been a curious, learning sort of person.” She set to work learning everything she possibly could about CPCs and their implications from online medical publications.
Billy was born by emergency C-section and, when he was two weeks old, four light brown birthmarks appeared on his back. Catherine found out that the proper term is “café au lait spots” but to her they were “like a little note from God” to pay attention.
When Billy was 3 years old, a pediatric neurologist tried to reassure Catherine when she pressed for a diagnosis to explain his low muscle tone. Billy was not as lean and muscular as other little boys, the doctor said, but that didn’t mean there was anything seriously wrong with him.
But Catherine had done her homework. When she asked about the possibility of neurofibromatosis, the doctor said that it almost looked like segmented neurofibromatosis, a milder diagnosis. Catherine responded, “That’s what I thought too, but for the mark on the nape of the neck, which does cross the midline.” At that point, the conversation became a debate between two people who had read the same studies, going toe-to-toe with their observations.
To cut a long story short, a pediatric orthopedic surgeon finally diagnosed Billy with McCune-Albright Syndrome, a spontaneous genetic mutation that occurs within days of conception. It’s a one-in-a-million diagnosis. It was Catherine’s careful research using publicly accessible resources that had brought them to this moment — a diagnosis — that eludes many people, especially those with mysterious symptoms.
I have encountered hundreds, even thousands, of people like Catherine, thirsty for the information they need to help themselves or a loved one make a well-informed health decision. They go online these days to scour the medical literature, but also to look for patterns in the data as analytic tools become more sophisticated and widespread.
Today we are celebrating the cultural change that people like Catherine can benefit from as we in the federal government change the default setting on publications and data from closed to open.
The U.S. Department of Health and Human Services (HHS) has embraced this opportunity to increase public access to peer-reviewed scientific publications and digital data. PubMed Central will now include research papers covering a wider range of topics than ever before, such as comparative effectiveness, emergency preparedness, public health, environmental health, and toxicology. Our colleagues at the National Institutes of Health, Food and Drug Administration, Centers for Disease Control, Agency for Healthcare Research and Quality, the Office of the Assistant Secretary for Preparedness and Response , and the Office of the Assistant Secretary for Legislation have been heroic in these efforts to set up systems to handle these changes. The result is that within a year of the publication of the research by these agencies, anyone will be able to read, download, and use published information at no cost.
But we can do more to speed the results of research into the hands of people like Catherine. Democratizing the data derived from the research that led to these publications is an essential next step, yet we must acknowledge the challenges we face:
- We do not have an existing central structure to serve as the data-storage equivalent to PubMed Central.
- We need policies to ensure that important protections for privacy and intellectual property are maintained.
- We need to test new data sharing models that preserve quality, integrity, and credit to those who created the original resource without limiting access to those who could build on and create new value.
It is likely that non-government agencies, such as publishers, universities, and large commercial enterprises with vast data holdings will become vital nodes on this expanding data network. It is important for researchers, federal partners, and users of data to be involved and ensure that the best value can be achieved without impeding our research programs.
We look forward to continuing the momentum, inspired and driven by the solutions that emerge when we allow everyone access to the tools they need to make the best decisions they can for their health — and the health of our country.
Featured image photo credit: melanie cook on Flickr