CGREAL Empirical Projects (Pilot)

 

  1. Survey of Cord Blood Banks

    Project Director:
    Aaron Goldenberg PhD1

    Research Staff:
    Sherri Broder PhD1, Roselle Ponsaran MA1, Jamie Ott MA1

    1Case Western Reserve University

    Funding: National Human Genome Research Institute, NIH P50HG03390 (CGREAL)

    Timeline:
    July 2010 to May 2011

    Significance:
    A growing number of researchers are using maternal samples taken during pregnancy in conjunction with cord blood samples taken after delivery. Cord blood samples are also being stored for use in pediatric medical research programs that remain in contact with donors and their families and collect longitudinal medical histories of the children whose cord blood was donated at birth in order to create a biobank that can be used for epigenetic research. Given recent growth in the number of public and private cord blood banks and the dynamic nature of cord blood banking for transplant and research, it is important to assess current practices surrounding cord blood banking. This project will increase knowledge regarding current public cord blood banking and research practices. Results will be used to improve our understanding of the informed consent process for cord blood collection, storage, and use in order to inform public policy.

    Project Goals:
    To examine the procedures of public cord blood banking regarding recruitment, collection, storage, and use of umbilical cord blood tissues, as well as the process of informed consent in relation to the use of cord blood in DNA banking and research.

    Methods:
    In-depth semi-structured interviews with cord blood banking personnel; analysis of the donor informed consent documents of participating banks and research programs.

    Status:
    We conducted 15 semi-structured interviews with personnel at cord blood banks as well as personnel from two cord blood banking foundations. We also collected donor informed consents from participating cord blood banks. Informed consent materials and interviews were coded and qualitative data analysis is ongoing.


  2. Parental Attitudes on the Collection and Research Use of Cord Blood (Perinatal Biobanking)

    Project Director: Aaron Goldenberg PhD1

    Collaborator: Patricia Marshall PhD1

    Research Staff: Sherri Broder PhD1, Roselle Ponsaran MA1, Jamie Ott MA1

    1Case Western Reserve University

    Funding: National Human Genome Research Institute, NIH P50HG03390 (CGREAL)

    Timeline: May 2011 to June 2011

    Significance:
    The ability to utilize umbilical cord blood and other biological samples collected at birth for research that integrate genotypic, gene expression and developmental information may be an invaluable resource in promoting epigenetic approaches to disease prevention and health promotion. Nevertheless, the collection and use of these samples and data raise a number of ethical, legal and social concerns regarding approaches to informed consent, confidentiality and security of stored data and samples, investigator access to data and samples, subject identifiably, and limited ongoing links to personal health information. Additionally, there are questions about the potential conditions under which research results may be returned to participants in either aggregated and/or individualized forms. Finally, this type of research also raises a number of unique concerns about the use of biological materials and data associated with children (and their families) whose rights and control regarding their health information will change as they grow older.

    Project Goals:
    Assess parental attitudes and beliefs regarding the collection and use of umbilical cord blood, other biological samples, and related epidemiological data for genetic research purposes. A series of participant observations and in-depth interviews with 1) participants of the University Hospitals Public Cord Blood Donation Program and 2) Participants recruited into the Genomics and Proteomics Core of the Cleveland National Children’s Study (NCS) site.

    Methods:
    In-depth semi-structured interviews with parents recruited in the UH Cord Blood Bank and the National Children’s Study; participant observation of the consent processes for the recruitment of parents into the UH Cord Blood Program and NCS; analysis of the donor informed consent documents of participating banks and research programs.

    Status:
    Development of interview guides, IRB protocols, and recruitment strategies for both samples has begun. We also collected donor informed consents from participating cord blood banks. Informed consent materials and interviews were coded and qualitative data analysis is ongoing.


  3. Exploring the Contributions of Patient Advocacy Groups to Clinical Research

    Project Director:
    Richard R. Sharp PhD1

    Collaborator:
    Michelle McGowan PhD2

    Research Staff:
    Margaret Brinich BA1, Mary Beth Mercer MPH1, Amy Jo Marcano-Reik MA1

    1Cleveland Clinic, 2Case Western Reserve University

    Funding:
    National Human Genome Research Institute P50-HG003390 (CGREAL)

    Timeline:
    August 2010-August 2012

    Significance:
    This study seeks to describe research collaborations between patient advocacy groups (PAGs) and clinical researchers. It expands upon several prior studies, including a national survey examining the extent to which PAGs for rare genetic diseases support various research activities. Results from that survey of 124 PAGs highlighted the extent to which these organizations have substantial relationships with clinical investigators and are participating in study design, subject recruitment, data collection, and other research activities. Building upon these findings, this study is using in-depth interviews to examine these relationships in greater depth.

    Project Goals:
    To characterize research collaborations between clinical researchers and PAGs for persons with rare genetic diseases.

    Methods:
    In-depth interviews with leaders of PAGs.

    Status:
    Data collection in progress.

    Select Publications:
    Sharp RR, Landy DC. The financing of clinical genetics research by disease advocacy organizations: A review of funding disclosures in biomedical journals. Am J Med Genet Part A 2010;152A(12):3051-3056.


  4. Pre-Implantation Genetic Diagnosis

    Project Directors:
    Michelle L. McGowan PhD1,Richard Sharp PhD2

    1Case Western Reserve University, 2Cleveland Clinic,

    External Collaborators:
    Joe Leigh Simpson & Laurence B. McCullough

    Funding:
    National Human Genome Research Institute P50-HG003390 (CGREAL)

    Timeline:
    January 2008-December 2011

    Significance:
    This research is focused on the social and ethical implications of the motivations and experiences of users of preimplantation genetic screening and diagnosis and how they conceptualize reproductive decision making in light of genetic information about their embryos. While there has been much normative work on the moral permissibility of reproductive genetic screening and testing, the current research efforts focus on the ethical and social implications of expanding use of preimplantation genetic
    diagnosis from the perspectives of patients.

    Project Goals:
    To characterize the motivations and experience of users of preconception and preimplantation genetic screening and diagnosis and how they conceptualize reproductive decision making in light of genomic risk information.

    Methods:
    Interviews with patients seeking preimplantation genetic diagnosis for sex selection purposes.

    Status:
    Eighteen couples have been interviewed. One paper has been published and another will be submitted for publication in Summer 2011.

    Select Publications:
    Sharp, Richard R., Michelle L. McGowan, Jonathan A. Verma, David C. Landy, Sallie McAdoo, Sandra A. Carson, Joe Leigh Simpson & Laurence B. McCullough. (2010). “Moral Attitudes and Beliefs among Couples Pursuing PGD for Sex Selection.” Reproductive Biomedicine Online, 21, 838-847.


  5. Universal Carrier Screening

    Project Directors:
    Michelle L. McGowan PhD1, Richard Sharp PhD2

    Research Staff:
    Deborah Cho1

    1Case Western Reserve University, 2Cleveland Clinic

    External Collaborators:
    Mildred Cho, David Magnus, Reed Pyeritz and Barbara Bernhardt

    Funding:
    National Human Genome Research Institute P50-HG003390 (CGREAL)

    Timeline:
    April 2011-July 2014

    Significance:
    Universal carrier tests, also called multiplex carrier tests, are screening tests designed to determine if one is a carrier for multiple genetic conditions. This project addresses individuals’ perspectives and decision-making about preconception carrier screening, particularly the ethical and social implications of its expanding use.

    Project Goals:
    To characterize the motivations and experience of users of preconception and preimplantation genetic screening and diagnosis and how they conceptualize reproductive decision making in light of genomic risk information.

    Methods:
    Convening expert advisory group regarding the ethical, legal and social implications of universal carrier screening

    Status:
    A meeting of experts will be held in Summer 2011. A grant proposal will be submitted in Fall 2011.


  6. Swabbing Students: A proposed legal framework for educational DNA testing

    Project Director:
    Shawneequa L. Callier1,Richard Sharp PhD2

    1Case Western Reserve University, 2Cleveland Clinic

    Funding:
    National Human Genome Research Institute, P50-HG003390 (CGREAL)

    Timeline:
    June 2010 to June 2011

    Significance:
    Numerous authorities, including the Secretary’s Advisory Committee on Genetics, Health, and Society and the National Coalition of Health Professional Education in Genetics have identified genetics education as a high priority for providers and the public. Significant declines in technology costs coupled with an unregulated developing market have enabled companies to offer genomic analyses directly to consumers. These developments have outpaced the education of physicians, to whom consumers will likely turn for answers about the often ambiguous results genomic analyses generate. The dearth of physicians capable of deciphering these confusing data is a warning signal for the future, when diagnoses could be missed or inappropriate therapies administered because physicians lack the tools to utilize novel genetic technologies. Numerous medical schools and one undergraduate institution have experimented with curricula that invite students to undergo personal genomic testing (PGT) as a means to explore the ethical, legal, social, and scientific questions that arise when exploring one’s genome. Shawneequa Callier will provide an analysis of the relevant ethical and legal concerns raised by these programs.

    Project Goals:
    To identify ethical, legal and philosophical issues associated with the use of personal genomic testing as an educational tool.

    Methods:
    Literature reviews and legal analysis, analysis of data from study of physicians’ attitudes regarding the use of PGT in educational settings.

    Status:
    Data analysis is ongoing, with one paper submitted for review and a second in preparation.


  7. GINA and Preemployment Criminal Background Checks

    Project Director:
    Shawneequa L. Callier1

    Collaborators:
    John Huss2, Eric Juengst3

    1Case Western Reserve University, 2University of Akron, 3University of North Carolina, Chapel Hill

    Funding: National Human Genome Research Institute P50-HG003390 (CGREAL)

    Timeline:
    September to October 2009

    Significance:
    In the spring of 2009, the Rules Committee of The University of Akron Board of Trustees created a policy that would require blanket criminal background checks for all prospective UA employees, and potential DNA identification testing.

    Project Goals:
    To discuss the legal and ethical implications of this policy, including the application of the Genetic Information Non-Discrimination Act.

    Methods:
    Literature reviews and legal analysis.

    Status:
    The paper was published in January 2010.

    Select Publications:
    Callier SL, Huss J, Juengst ET. GINA and preemployment criminal background checks. Hastings Cent Rep. 2010 Jan-Feb;40(1):15-9. PubMed PMID: 20169652.

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