Elizabeth J. Horn

How disease advocacy organizations participate in clinical research: a survey of genetic organizations.

Purpose:Disease advocacy organizations may assist in the conduct of research in a variety of ways. We sought to characterize how disease advocacy organizations participate in clinical research and perceive their contributions.Methods:Postal and electronic surveys administered to leaders of disease advocacy organizations for genetic conditions identified through the Genetic Alliance’s Disease InfoSearch.Results:Of the 201 disease advocacy organizations approached, 124 (62%) responded. In the past 2 years, 91% of these organizations had assisted in participant recruitment, 75% collected data, 60% provided a researcher with financial support, and 56% assisted with study design. Forty-five percent of these organizations also supported a research registry or biobank. Few disease advocacy organization leaders (12%) reported regrets about research studies they had supported. Most (68%) felt their involvement in clinical research had increased the amount of research on their condition and that researchers should consult organizations like theirs in deciding how to recruit participants (58%) and in selecting research topics (56%).Conclusion:In addition to providing financial support, disease advocacy organizations participate directly in multiple aspects of research, ranging from study design and patient recruitment to data collection and analysis. Leaders of these organizations feel strongly that scientists and research sponsors should engage them as partners in the conduct of clinical research.Genet Med 2012:14(2):223–228

An End to the Myth: There Is No Drug Development Pipeline

A new map is presented for creating an open, collaborative, and coordinated system for drug development. A new map is presented for creating an open, collaborative, and coordinated system for drug development.

Genetic Alliance Registry and BioBank: a novel disease advocacy-driven research solution

The Genetic Alliance Registry and BioBank was founded in 2003 on the principal that a shared infrastructure would facilitate easy flow of resources and accelerate disease-specific research. Based on the Pseudoxanthoma Elasticum International Registry and BioBank, six disease advocacy organizations came together to identify the best solutions for advocacy organizations to promote and collect biological samples with associated clinical information from their members. This required a flexible system that could accommodate an extensive amount of data and samples, support new avenues of research, yet be adaptable to meet the needs of a variety of organizations, and straightforward to implement and use. After extensive landscape analyses, a cross-disease, infinitely expandable registry and biorepository was established. This article reports on this effort and shares the lessons learned.

Regulating Genetic Tests: Issues That Guide Policy Decisions

The potential and promise of personalized medicine are great (Feero et al., 2008; Chan and Ginsburg, 2011). As science and technology advance, our knowledge base increases and additional genetic tests are developed on the basis of this new information. With improved science and technology, results are becoming available more rapidly at decreased costs. Given these advances in technology, the dialogue surrounding oversight of genetic tests continues, and the issues that guide policy continue to evolve. Some relevant issues related to genetic testing policy are described below.

Engaging Research Participants and Building Trust

Research participants are essential partners in the research enterprise. Through the efforts of participant volunteers, scientists have access to clinical data sets and biological samples. Generally de-identified, these data sets and samples are vital to research progress and are available only through the generous donations from research participants. Individuals participate in research for many reasons, such as to receive benefit from an investigational drug, to improve care for future generations, to contribute to something hopeful, and to advance scientific knowledge. For all participants, a key component of research participation is trust.

Precision medicine: generating real-world evidence for companion diagnostics.

‘‘It’s far more important to know what person the disease has than what disease the person has.’’ Hippocrates stated this over 2000 years ago, and it still holds true today for personalized or, better stated, precision medicine: Knowing the genomic make-up of a person is necessary to understand and treat his or her disease. Precision medicine has been heralded as a game-changer in medicine, with the potential to shift the emphasis from reaction to prevention and to reduce trial-and-error prescribing by tailoring therapies to the individual (Feero et al., 2008; Chan and Ginsburg, 2011). It has the potential to make drugs safer by avoiding individual adverse drug reactions, increasing patient adherence to treatment, and improving quality of life. More precise medicine may also help control the overall cost of care. The public continues to recognize the potential benefits of precision medicine. In a 2010 survey of 1000 U.S. residents, approximately 58% saw the value in using genetic information to help identify which drugs would be most effective in treating them, and 65% were interested in using genetic data to determine whether they would experience adverse effects of a particular drug (Cogent Research Attitudes and Trends, 2010).

Biobanking Challenges and Informatics Opportunities

Biobanking is the science and practice of storing biological specimens for future use. Biobanking is an emerging field with the potential to improve our understanding of disease and develop better, more targeted treatments for many conditions. Data associated with the specimens must include information about the specimens, the donor, and the conditions (including informed consent) under which the samples were collected, processed, and stored. Biobanking is based upon the premise that the storage of biologic specimens will enable future research, including the use of advanced technologies and methods beyond what currently exists, and without associated data, samples cannot be leveraged for the future. With the completion of the human genome and the promise of personalized medicine and diagnostics, biobanking is being embraced by a variety of stakeholders, including academic institutions, government, industry, and patient advocacy groups. This wide-ranging adoption has led to the development of many biobanks for various purposes. These different categories of biobanks, from population biobanks to disease-specific biobanks, collect a variety of human specimen types, each requiring different descriptive data and associated standards for collection, processing, and storage. In this chapter, we discuss the challenges inherent in biobanking and opportunities for informatics to resolve some of these challenges.

Exploring Priorities for Public Health Genomics

Genetics and genomics, if properly integrated into health, have great promise. Recognizing this, several government agencies—including the Centers for Disease Control and Prevention (CDC), the Health Resources and Services Administration Maternal and Child Health Bureau, and the National Institutes of Health—embarked on a strategic planning mission to assess priorities for the future, with particular attention paid to genomics’ growing impact and potential. The goal of the Developing the Priorities for Public Health Genomics 2012–2017 meeting was to identify priority outcomes, as well as the activities needed to achieve those outcomes in the coming 5 years. The CDC Office of Public Health Genomics led this 2011 initiative and is currently prioritizing both shortand long-term goals. As part of this process, the Office, with support from the University of Michigan and Genetic Alliance, convened members of the diverse public health genomics community to discuss activities that should be carried out by the public health system in the next 5 years, with an emphasis on applying genomic knowledge to public health goals. Stakeholders from federal, state, academic, industry, consumer, and professional organizations were engaged in a facilitated discussion about the changing environment and its effect on priorities, goals, and strategies for public health genomics. Most of the meeting was spent in action-oriented breakout sessions organized around four topic areas: detection, development and evaluation, pathways and interactions, and prevention. Each breakout group engaged individuals with diverse perspectives and expertise. Several crosscutting priority areas emerged, including public education, evidence development, technology development, integration of genetics into all aspects of healthcare, and expansion of public health screening programs that use genetic information. Here, we highlight two of the recommendations from the meeting.

Landscape Analysis of Registries and Biobanks: A Tool for Disease Advocacy Organizations to Enhance Translational Research Systems

Disease advocacy organizations play an increased role in the development and management of registries and biorepositories. Genetic Alliance developed criteria to assist organizations in selecting vendors and conducted a technical assessment survey of potential vendors. More than half offered customizable solutions, and biorepositories surveyed offered a variety of genomic services. Nearly three-quarters collect deidentified data, and few use controlled vocabulary, limiting the ability to recontact participants and share data. While this does not represent the complete registry and biorepository landscape, it is a starting point to assist organizations in assessing appropriate solutions.

Realizing Our Potential in Biobanking: Disease Advocacy Organizations Enliven Translational Research.

Biobanks are increasingly powerful tools used in translational research, and disease advocacy organizations (DAOs) are making their presence known as research drivers and partners. We examined DAO approaches to biobanking to inform how the enterprise of biobanking can grow and become even more impactful in human health. In this commentary, we outline overarching approaches from successful DAO biobanks. These lessons learned suggest principles that can create a more participant-centric approach and illustrate the key roles DAOs can play as partners in research initiatives. DAO approaches to biobanking for translational research include the following: be outcome driven; forge alliances that are unexpected-build bridges to enhance translation; come ready for success; be nimble, flexible, and adaptable; and remember that people matter. Each of these principles led to particular practices that have increased the translational impact of biobank collections. The research practices discussed can inform partnerships in all sectors going forward.