Mitzi Perdue

According to Sharon Terry, as we scrutinize diseases at an ever more granular level, we will find that whatever disease a person has, it’s highly likely to be a “rare” disease.

The task of finding and recruiting sufficiently large cohorts for studying genetic diseases has up to now been a needle in the haystack problem. This is rapidly changing as Sharon F. Terry and her colleagues at Genetic Alliance are making possible aggregation of individual health information in ways and on a scale never seen before. In the process, they may play an unprecedented role in speeding up drug discovery while enabling individuals to have more ownership of and participation in their own health.

Terry heads Genetic Alliance, an organization composed not only of more than 1,200 disease-specific health advocacy organizations, but another 8,000 or so university, government, and private sector groups. Having such a large number of organizations working together may soon make possible research that up until now would have been impossible.

She likes to explain these upcoming changes by reminding us of an experience most of us have already had. “If 20 years ago, I wanted to find a rare book, let’s say one that was published in 1932 and that only applied to a tiny village in Africa, I probably wouldn’t have had a chance of finding it. Today, because so much information is indexed and available on the Internet, I could probably find it in seconds using Google or Ex Libris.”

However, as she goes on to point out, “In spite of so many areas of interest having been indexed, up to now we haven’t indexed one of the things we most care about, our own health information.

“Because of the Internet,” she continues, “we are able to aggregate and share information in ways never before possible. As this sharing accelerates, we will have better interventions and solutions, including validated biomarkers and genetic tests that have clinical utility.”

Among the factors enabling increased data collection and indexing for genetic diseases is first, the internet enables people with genetic diseases to self-aggregate. A disease information resource that Genetic Alliance runs, called Disease InfoSearch, provides information and resources for persons affected by more than 10,000 conditions and their subtypes.

Individuals in these self-aggregated groups now have available a program sponsored by Genetic Alliance that enables them to participate in research related to their own disease. While in the past these individuals may have been hesitant to share information about their individual conditions, Genetic Alliance’s program, PEER (Platform for Engaging Everyone Responsibly), now enables participants to control who sees their information and how it is used.

As Terry explains, “PEER’s emphasis on privacy controls and participant engagement is unique. While there are biobanks and DNA databases that have broad consent, PEER allows participants to fine-tune how their information is shared with particular researchers, institutions, or people studying a specific disease, symptom, or pathway.”

As an example, she says, “I might be willing to offer my orthopedic medical records for a study, but might choose to hold back psychiatric records.” The PEER system gives participants the tools to say ALLOW, DENY, or ASK ME, and they can also change these permissions at will.

Terry’s metaphor for this tiered access is a highway. PEER users who wish to participate are guided onto an on-ramp at the PEER highway. Each lane represents a higher level of participant involvement and disclosure, as the participants experience, in a trusted environment, the opportunity to provide more sensitive data and to make it available (or not) to researchers.

The first lane consists of general questions, and users are able to see the results of each question as they answer it and, in doing so, appreciate how their answers compare with those of others. As users progress to the second engagement lane, they can provide information on the common data elements important for all diseases, enabling the measurement of the same things, the same way, across all diseases. Moving to the third engagement lane, users are asked to respond to in-depth questions specific to their own disease.

Participants have the freedom to share or deny the discovery and/or use of their information, but in Terry’s experience, the participation rate is surprisingly high. “Eighty-five percent of the participants choose the highest level of sharing (ALLOW), enabling the most research, while about 10% click the ‘ASK ME,’ option and only 5% click the ‘DENY’ choice.  

Terry sees this participation as a way of having pharmaceutical companies and the public interact in a promising new way. She expects that as individuals participate in the scientific process, and as they learn, through their own participation, that drugs and therapies don’t just appear by magic, the public and the disease advocacy organizations will become natural partners for the drug discovery organizations.

A benefit of the self-aggregating nature of disease advocacy organizations is that it doesn’t require extensive and expensive patient education. Rather, individual’s own interests will take them there. It’s comparable to the Farmville game on Facebook, which she regularly plays with her young nephew. Currently, roughly 65 million people play the game each month. “They didn’t come there because someone educated them about why they should come to Farmville,” she points out. “People found a ‘natural’ reason to go there, in my case to stay in touch with a young relative far away. With PEER, people come because they’re looking for answers and engagement.”

When Terry steps back and looks at the issue mentioned at the beginning of this article, the problem of finding large cohorts for genetic diseases, she has an interesting insight. As we are able to look into diseases at an ever-more-granular, and even molecular, level, we see that whatever disease a person has, it’s highly likely to be a “rare” disease.

A woman with breast cancer may present with the common manifestations of the disease, but we already know of 150 different pathways that led to this particular disease state, so in practice, every case of breast cancer probably is probably a rare form of it. The same is true of diabetes, which actually is known to be more than 100 different diseases. This is the case with many, many other diseases that were once considered to be just one disease.

With the new ability to find large groups of people for each relatively rare genetic disease, and with the new ability to get permission for sharing extensive health and environmental information from individuals, the needle in the haystack problems become transformed. Because of new technologies and new ways of conceptualizing the problem, Terry and her colleagues know that everyone carries genes that are of biomedical importance and therefore, everyone is a needle. The haystack is made of needles.

For more on Sharon Terry, be sure to check out the video “Sharon Terry & Genetic Alliance” on GEN's Video Channel.

Mitzi Perdue, GEN’s corresponding editor, holds degrees from Harvard and George Washington University. She has authored more than 1,600 newspaper and magazine articles on science R&D and clinical medical applications, as well as on food, agriculture, and the environment. Perdue has a strong understanding of complex scientific and mathematical concepts.  For 22 years, she was a syndicated columnist for the Scripps Howard News Service and before that, California’s Capitol News. Perdue is also the author of the newsletter from the professional association,  Academy of Women’s Health. She has produced and hosted more than 400  interview shows,  often in conjunction with scientists at the University of California at Davis. She is a former Commissioner for the U.S. National Commission on Libraries and Information Science and a former Trustee for the National Health Museum.

This article was originally published in the June 26 issue of Clinical OMICs. For more content like this and details on how to get a free subscription to this new digital publication, go to

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