October 4, 2004

Patient advocate calls for Open Access

Patient advocacy organizations are amongst the many groups actively campaigning for increased public access to the scientific literature. When Sharon Terry's two children were diagnosed with a rare genetic disease, she discovered at first hand how difficult it is to get access to primary research papers. Terry has been heavily involved in patient advocacy ever since. She talked to Open Access Now about her work with the Genetic Alliance and how important Open Access is to the lay community.

"My entry into Open Access is personal, because in 1994 my two children were diagnosed with a rare genetic disease called PXE," explains Terry. PXE stands for pseudoxanthoma elasticum, a rare connective-tissue disease that can lead to bleeding, skin lesions and blindness. "Immediately, my husband Patrick and I had a very personal experience of what un-open access looks like. We wanted to get some quality information about the kids' disease, but instead we were subjected to what we could garner through filtered information in reviews or or medical encyclopedias. What we got from those kinds of publications was often incorrect, but we didn't know it at the time because we had nothing to gauge it against." The Terrys had no medical training: she was a college chaplain and he was a fire protection engineer. "We didn't have a shard of medical information in our bones," recalls Terry. "As my husband likes to say, we didn't know a gene from a hubcap."

Parents battling for access
The Terrys' lack of training did not prevent them from wanting to learn more. Sharon Terry has spent the last decade energetically acquiring the skills necessary to contribute decisively to PXE research. But her battle has been constantly hindered by her difficulty in accessing scientific information as a member of the lay public. "At the beginning we really wanted to get more information," she recalls. "But when we went to try to find that information, we discovered that it was very hard to get. We lived in the Boston area at the time and were lucky to be able to go to one of the best medical libraries in the world. We went to the Harvard University library and found that we had to pay $25 to get in the door, which we understood because it's a private university. So we paid the $25, but after about ten trips to the library we decided we couldn't afford to continue that way."

Terry was astonished at how difficult it was to access medical information. "At the time we had no clue that we were fighting an Open Access issue - we just wanted to get the articles we needed to learn about our kids' disease." She persevered, driving out to the public University of Massachusetts library, which was free to use. "But that meant having the kids, who were aged 5 and 6, in the car for the hour drive and then finding someone to take care of them while I went into the library. So we did that for quite a while. In fact, the other day I realized that we have been doing it for 10 years."

Terry founded PXE International to help support scientific research into PXE, and the organization has made a significant contribution to progress in PXE research. Terry herself was involved in the cloning of the gene that is mutated in PXE patients. She actually went into the lab and worked to isolate DNA and sequence the gene, MRP6/ABCC6, which encodes a transporter protein. Terry is listed as a co-inventor on the gene patent and has helped create a consortium of 19 research laboratories that are focusing on the rare disease and developing the first diagnostic tests. PXE International is one of the first groups of lay people to receive NIH funding, without an MD or PhD as the principal investigator, to organize a medical research meeting. "During all these years my own organization has made real strides and all that is wonderful," comments Terry. "But today in 2004 I still can't get the journal articles that I need for this meeting. So, I am back to figuring out how can I get the journal articles. Now I can go to the National Library of Medicine because I live in the DC area, but I have to find the time to go there, and I have to comb through the stacks and photocopy the articles. It would be so much easier if I just could point and click on the Internet. This is still an issue a decade later. It's unbelievable and it really drives me crazy."

"During all these years my organization has made real strides and all that is wonderful. But today in 2004 I still can't get the journal articles that I need."

An alliance of advocates
Last February, Terry was appointed as President and CEO of the Genetic Alliance. Founded in 1986, the Alliance is a coalition of 600 genetic advocacy groups. "Our work is to increase capacity in those groups so that they can do their mission and also to leverage the collective voices of the millions of individuals affected by genetic conditions," explains Terry. "We are trying to help other groups to do the same things that PXE International did and to increase their ability to participate and catalyze research in their own disease areas. And one of the critical pieces - the gold nugget - is the peer-reviewed literature on those diseases, but often our groups don't have access to that information." She says that her members are shocked when they discover that then cannot easily access the literature. They are surprised to be denied access to research that was funded by their tax dollars and to be denied access to information that they desperately need to advance research on 'their' disease.

Terry is angered by the argument voiced by some publishers that the lay public should not have access to research information because they won't understand it. "That's very insulting. It's ironic; because one of the things that they often say to us is that it's dangerous for us to have that information because we won't know how to interpret it." But Terry feels that often the information on rare diseases is of low quality or even false. She claims that knowledge of some rare genetic diseases is so poor that certain myths get perpetuated in the literature. She feels strongly that patients' experience with the disease could actually help to improve the quality and accuracy of the research literature. "I also don't buy the argument that we should just get review articles." Terry argues that patients have an urgent need for cutting edge research findings and that they cannot afford to wait until reviews are written. Terry has learnt the skills to be able to assess research papers and determine whether they are valuable or clinically relevant. "And I am not unique either. There are 600 groups in the Alliance and I would say that half of them have that kind of savvy."

Terry explains that patient groups use the information in different ways. "Some of the information, if it's accessed by our advocacy group leaders, is used to help drive research. For example, if a new paper describes a gene discovery then one of our groups associated with that disease usually convenes a small meeting to ask what can be done next." The other way in which access to information is important is for discussions with physicians. "Individuals invariably want those articles to be able to bring with them when they go to the doctor," explains Terry. "Because, if there are 6,000 rare diseases, no doctor on the face of the earth is going to know about all those diseases. And every time a new person gets diagnosed with a rare disease they need to educate a new clinician - and it's so much easier if they have in their hands the primary literature."

The Genetic Alliance is trying to educate its groups about Open Access and to bring the issue to the attention of the media and policy makers. "We have to make sure our needs are heard and known," says Terry. In recent weeks she has been involved in discussions with Elias Zerhouni, Director of the National Institutes of Health (NIH), about NIH's dissemination policies. "And I have had several meetings with publishers and editors of journals to talk about the issues with them and to explore the ways that we can work this out. By no means am I saying that we want to see the demise of the journals; rather, there has got to be a way to figure out how to give us access and still have a successful business model." Terry has no preference for one business model over another, but she is emphatic that change is necessary. "I think that the rest of the world has changed so radically because of the Internet and because of electronic access that the publishers must have seen this coming. There has to be a change here just like there was a change in everyone else's business model."

Terry has been very encouraged by discussions with Zerhouni. "He is very concerned that if taxpayers paid for research then they should have access to it, and he would also like a repository of the results of all the money that he has paid out - and that makes complete sense," says Terry. She expresses surprise that funding agencies often don't know how many articles have been published from the work they supported. The Genetic Alliance recommends to member organizations that they make access a requirement for funding. "PXE International has awarded around a half a million dollars in research money. We require pre-publication access to the data and every six months we require a lay report that goes in our newsletter and a scientific report that we keep."

Patient advocacy groups have played an important role in recent demands for greater access and are thankful that their members are likely to be granted improved access in the future. "I am very optimistic that at least federally funded research will be available according to the plan that Zerhouni has put forward. I am not so optimistic that the rest will follow on. I think that the journals are going to try to hang onto this business model for as long as they can. But the NIH proposal is likely to have a good ripple effect." Terry's experience over the last decade has left her with some strong opinions about the research enterprise. "I think that the whole arena of medical research publication and reporting needs a shake up and needs to be handled in a different way - and this [the Open Access debate] might begin to catalyze that kind of change." Terry feels that scientific publishing suffers from too much politics. "There is a lot of good data that never gets published because of politics or because of the medical research culture's disdain for negative results. There are such pressures to publish that researchers are not as forthcoming or sharing as they probably could be. I think that we could be eons ahead of where we are today if we had a very different system for sharing results."