CGREAL Empirical Projects (Affiliated)

  1. Presenting Diagnostic Results From Large-Scale Clinical Mutation Testing

    Project Director:
    Richard Sharp PhD1

    Co-Investigators:
    Gail Geller ScD2, Patricia Marshall PhD3, Jennifer McCormick PhD4, Jon Tilburt MD4

    Research Staff:
    Margaret Brinich BA1, Janelle Highland MA1, MaryBeth Mercer MPH1, Krista Harrison BA2, Katherine James MPH4

    1Cleveland Clinic, 2Johns Hopkins University,3Case Western Reserve University, 4Mayo Clinic

    Funding: National Human Genome Research Institute, NIH R01HG004500-03

    Timeline: September 2008 to May 2012

    Significance:
    With recent advances in genotyping methods, specifically improvements in DNA microarrays and chip- scanning instrumentation, it is now technically possible and economically feasible to test large numbers of patients for several thousand known mutations associated with Mendelian disease phenotypes. This possibility suggests numerous clinical applications of large-scale mutation arrays in molecular diagnosis and genetic risk assessment, such as prenatal testing for the most common mutations responsible for severe genetic disorders, screening for autosomal recessive or X-linked mutations, and predictive testing for a range of adult-onset disorders. If genomic testing is to be integrated effectively into clinical care, however, several significant ethical issues must first be addressed.

    Project Goals:
    To describe the attitudes and beliefs of patients and genetic professionals regarding the types of diagnostic possibilities that should be discussed with patients prior to large-scale clinical mutation testing, and to characterize the attitudes and beliefs of patients and genetic professionals regarding the types of diagnostic results that should be returned following genomic testing.

    Methods:
    Patient interviews and surveys; Working Groups of genetic professionals at six academic medical centers in the US.

    Status:
    Data collection is complete; several presentations of major research findings have been given, with additional data analysis ongoing.

    Select Publications:
    Sharp, R. R. (2011). "Downsizing genomic medicine: approaching the ethical complexity of whole-genome sequencing by starting small." Genet Med 13(3): 191-194.
    Foster, M. W., J. J. Mulvihill, et al. (2009). "Evaluating the utility of personal genomic information." Genetics in Medicine 11(8): 570-574.


  2. Patient Perceptions of Bioengineered Probiotics and Clinical Applications of Metagenomics

    Project Directors:
    Richard Sharp PhD1, Ruth Farrell MD1

    Collaborators:
    Patricia Marshall PhD2, Gail Geller ScD3, Jon Tilburt MD4, Jennifer McCormick PhD4

    Research Staff:
    Margaret Brinich BA1, Janelle Highland MA1, MaryBeth Mercer MPH1, Krista Harrison BA3, Katherine James MPH4

    1Cleveland Clinic, 2Case Western Reserve University, 3Johns Hopkins University, 4Mayo Clinic

    Funding:
    National Human Genome Research Institute, NIH R01HG4877

    Timeline:
    September 2008 to July 2011

    Significance:
    The launch of the Human Microbiome Project (HMP), and the interest in bioengineered probiotic therapies that this new NIH initiative has generated, provide a unique opportunity for research examining the ethical, legal and social implications (ELSI) of introducing novel genomic therapeutic modalities into clinical medicine. The overall goal of the study is to characterize patients’ opinions of bioengineered probiotics as therapeutic options for the management of chronic digestive diseases. The data from this study will be used to develop clinical guidelines and health policy recommendations for the responsible translation of novel genome-based therapeutics into clinical care. This study meets a primary aim of CGREAL-to research the ethical and societal issues in human genetic research and the introduction of new genetic technologies into patient care.

    Project Goals:
    To characterize patients’ perspectives of the potential benefits and risks of bioengineered probiotics and clinical applications of metagenomic technologies in clinical gastroenterology.

    Methods: Focus groups with patients with IBD, IBS or other chronic GI diseases for which probiotics are sometimes used; policy development efforts involving an expert working group.

    Status:
    Twenty-two focus groups have been held with 136 patients. Qualitative data analysis is ongoing. Initial manuscripts describing focus group data has been submitted for publication. Other manuscripts reporting results from the focus groups are in progress. The Probiotics Working Group met in April, 2011.

    Select Publications:
    Sharp RR, Achkar JP, Brinich MA, Farrell RM. Helping patients make informed choices about probiotics: a need for research. American Journal of Gastroenterology 104 (2009): 809-813.


  3. Community Voices on Genetics and Health Disparities

    Project Directors:
    Patricia Marshall, PhD1, Aaron Goldenberg, PhD1

    Collaborators:
    Ash Segal, MD2

    Research Staff:
    Michele Abraham, MSSA2, Sanjur Brooks, BA1, Chris Hartmann, MA1, Laura Morello, MA1, Kari Zimmermann, BA1

    1Case Western Reserve University, 2Metro Health Medical Center

    Funding:
    National Human Genome Research Institute, NIHGR 1-RC1-HG005789-01

    Timeline:
    September 2009 to September 2011

    Significance:
    The relevance of genomics research for addressing health disparities between population groups is currently being debated. As a practical matter, if genomics hopes to have any role in reducing health disparities, its assumptions and goals will have to make sense to the communities involved. We know very little about what underserved and minority communities that are experiencing health inequities know and think about genomic research and health disparities, and how they might inform research plans if they were invited to discuss it. This project seeks to fill that gap. The goals of this study are to examine beliefs and experiences that influence understanding of genomic research and its application to health disparities among underserved and minority populations in Cleveland, Ohio, to identify barriers to genomics research relevant to health disparities, and to develop innovative approaches for addressing these barriers through collaborative community-based partnerships. All of these goals will be accomplished by utilizing existing local, regional, and national collaborative partnerships.

    Project Goals:
    1) To attain greater understanding into the knowledge, beliefs and experiences related to translational genomics research and health disparities in underserved and minority communities, and 2) To collaborate with local, regional, and national partners in study design and implementation and develop innovative methods for disseminating study results to underserved and minority communities.

    Methods:
    Focus groups and interviews with individuals from the African-American, Latino and White communities; study design and dissemination efforts involving a Community Advisory Board with local, regional and national experts and leaders.

    Status:
    Thirteen groups have been held with 98 individuals and 119 individual interviews have been completed. Qualitative data analysis is ongoing. An initial manuscript describing focus group data is currently in progress. Our plan is to disseminate the results to the community in collaboration with our Community Advisory Board.

    Photo Documentation Project Results

  4. Anticipating Personalized Genomic Medicine

    Project Directors:
    Michelle McGowan PhD1, Eric Juengst PhD2, Jennifer Fishman PhD3, Rick Settersten PhD4

    Research Staff:
    Marcie Lambrix MA1, Michael Flatt MA1, Roselle Ponsaran MA1, Kristi Ninneman MA1

    1Case Western Reserve University, 2University of North Carolina, Chapel Hill, 3McGill University, 4Oregon State University

    Funding:
    National Human Genome Research Institute, NIH 2R01HG005277-07A1

    Timeline:
    September 2010 to September 2014

    Significance:
    Personalized genomic medicine (PGM) is being promoted as a "new paradigm for health care" and a major goal for translational genomic research (TGR). In addition to overcoming TGR's remaining scientific hurdles, achieving that goal will involve addressing a number of ethical, legal, and social challenges. Some of those challenges reflect the ways that different social policies and health care economies will complicate TGR's ability to realize PGM as a viable health care paradigm. But other challenges might emerge from the goal itself, depending upon how PGM is interpreted by those who shape it as a social practice. This project explores this suggestion by documenting how PGM and its most attractive virtues are interpreted by those involved in defining them for TGR and society, and the challenges and choices they are encountering in the process.

    Project Goals:
    1. To anticipate the ethical, legal and social implications of translational genomic research as it moves towards its goal of “personalized genomic medicine” (PGM).
    2. To describe and analyze the interpretations that genome scientists, their sponsors, and clinicians give to PGM as it moves through the pipeline from basic research to clinical and commercial use and as a goal for translational genomic research.


    Methods:
    In depth interviews with various PGM stakeholders, including (1) individual scientists; (2) institutional sponsors and public policy proponents; (3) medical educators and clinicians; and (4) potential consumers and patients as “end users” of PGM services. These descriptive studies will then inform the creation of an analytic map of the potential virtues and possible correlative vices of PGM, designed to draw out its ethical, legal and policy implications for translational biomedical research and healthcare.

    Status:
    43 interviews have been conducted. Data collection and qualitative data analysis is ongoing.


  5. Effects of trust and social obligations for research participation on patients’ attitudes toward cancer genomic studies

    Project Directors:
    Patricia Marshall PhD1

    Collaborators:
    Georgia Wiesner MD1, Aaron Goldenberg PhD1, Stephen Zyzanski MD1, Louise Acheson PhD1, Christopher Burant PhD1

    Research Staff:
    Roselle Ponsaran MA1, Margaret Winchester PhD1, Nancy Gerson BA1, Susan Lewis MSW1

    1Case Western Reserve University

    Funding: Office of the Director, National Institute of Health, 2R01HG002207-08A1

    Timeline:
    September 2010 to September 2011

    Significance:
    Trust in physicians and medical research has been identified as an important ingredient in risk assessments of genetic research. However, it is not yet clear how the experience of cancer affects beliefs about research obligations, or how these beliefs, along with trust in physicians and medical research, affect attitudes toward cancer genomics research. Study results will provide the architects of cancer genomics with an account of how the patients they hope to work with are likely to experience their invitations to participate in research. This pilot study represents the first empirical investigation of the mediating effects of trust and social obligations for research participation on attitudes toward cancer genomics research among colon cancer patients and patients with no history of cancer. Results of this pilot project will be used to develop a large-scale investigation of the mediating effects of trust and social obligations for research participation among other cancer patient populations.

    Project Goals:
    To describe the effect of being a colon cancer patient compared to being a patient without a cancer history, on attitudes toward cancer genomics research and willingness to participate in genomics research.

    Methods:
    A survey questionnaire will be administered to 160 patients (80 patients who have had colon cancer and 80 patients with no prior history of cancer). In-depth interviews will be conducted with a sub-sample of 12 individuals who completed the survey to strengthen our understanding of meanings ascribed to cancer and cancer genomics research. Ethical analysis of issues associated with trust and social obligation for the design of cancer genomics research and recruitment protocols will be conducted throughout the duration of the study.

    Status:
    Data collection is ongoing at all sites.


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