In order to maximize the potential benefit of research using newborn screening residual dried blood samples (DBS), a paradigm shift will be necessary to develop an infrastructure in which parental consent is obtained and the results of genomics research using these samples will be returned to the parents of individual research participants. The goal of this project is to facilitate the development of the normative and legal framework necessary to return results to individual participants in this context. This goal is consistent with the new vision of the National Human Genome Research Institute which discusses the need to re-examine the framework for oversight of genomics research involving human subjects. A systems-based approach will be used to consider the processes involved in using DBS for research and how results might be returned to the parents of individual research participants. Particular attention will be paid to the normative and legal obligations of each stakeholder involved in these processes and to elements that may be unique to newborn screening. These stakeholders include state departments of health, biorepository managers, researchers, and clinicians. A multi-disciplinary team with expertise in law, bioethics, medical genetics, and clinical care will conduct the research.
The Specific Aims of the proposed research are as follows:
SPECIFIC AIM 1 : To evaluate lessons learned regarding the development of state policies in the context of historical experience with the expansion of newborn screening and the development of biorepositories using DBS. SPECFIC AIM 2: To identify key gaps in the regulatory framework in which legal considerations related to the return of results of genomics research using DBS have not been fully considered.
SPECIFIC AIM 3 : To develop specific recommendations regarding key elements that need to be addressed by state policy makers in order to implement a system in which results from genomics research with DBS are returned to individual participants.

Public Health Relevance

In order to maximize the potential benefit of research using newborn screening residual dried blood samples (DBS), a paradigm shift will be necessary to develop an infrastructure in which parental consent is obtained and the results of genomics research using these samples will be returned to the parents of individual research participants. The goal of this project is to facilitate the development of the ethical and legal framework necessary to return results of genomics research using DBS to the parents of individual participants.

Agency
National Institute of Health (NIH)
Institute
National Human Genome Research Institute (NHGRI)
Type
Exploratory/Developmental Grants (R21)
Project #
5R21HG006594-02
Application #
8337333
Study Section
Special Emphasis Panel (ZHG1-ELSI-P (O1))
Program Officer
Boyer, Joy
Project Start
2011-09-23
Project End
2014-08-31
Budget Start
2012-09-01
Budget End
2014-08-31
Support Year
2
Fiscal Year
2012
Total Cost
$119,952
Indirect Cost
$44,952
Name
Johns Hopkins University
Department
Type
Organized Research Units
DUNS #
001910777
City
Baltimore
State
MD
Country
United States
Zip Code
21218
Amendola, Laura M; Jarvik, Gail P; Leo, Michael C et al. (2016) Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium. Am J Hum Genet 98:1067-76
Green, Robert C; Goddard, Katrina A B; Jarvik, Gail P et al. (2016) Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. Am J Hum Genet 98:1051-66
Brothers, Kyle B; Holm, Ingrid A; Childerhose, Janet E et al. (2016) When Participants in Genomic Research Grow Up: Contact and Consent at the Age of Majority. J Pediatr 168:226-31.e1
Daly, Mary B (2015) A Family-Centered Model for Sharing Genetic Risk. J Law Med Ethics 43:545-51
Petersen, Gloria M; Van Ness, Brian (2015) Returning a Research Participant's Genomic Results to Relatives: Perspectives from Managers of Two Distinct Research Biobanks. J Law Med Ethics 43:523-8
Amendola, Laura M; Lautenbach, Denise; Scollon, Sarah et al. (2015) Illustrative case studies in the return of exome and genome sequencing results. Per Med 12:283-295
Lewis, Michelle Huckaby; Goldenberg, Aaron J (2015) Return of Results from Research Using Newborn Screening Dried Blood Samples. J Law Med Ethics 43:559-68
Scollon, Sarah; Bergstrom, Katie; McCullough, Laurence B et al. (2015) Pediatric Cancer Genetics Research and an Evolving Preventive Ethics Approach for Return of Results after Death of the Subject. J Law Med Ethics 43:529-37
Garrison, Nanibaa A (2015) Considerations for Returning Research Results to Culturally Diverse Participants and Families of Decedents. J Law Med Ethics 43:569-75
Gray, Stacy W; Martins, Yolanda; Feuerman, Lindsay Z et al. (2014) Social and behavioral research in genomic sequencing: approaches from the Clinical Sequencing Exploratory Research Consortium Outcomes and Measures Working Group. Genet Med 16:727-35

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