@article {631, title = {Enrolling Genomics Research Participants through a Clinical Setting: the Impact of Existing Clinical Relationships on Informed Consent and Expectations for Return of Research Results.}, journal = {J Genet Couns}, volume = {27}, year = {2018}, month = {2018 02}, pages = {263-273}, abstract = {

Genetic counselors working in a clinical setting may find themselves recruiting, enrolling, and returning results for genomic research, and existing clinical relationships with study participants may impact these research interactions. We present a qualitative study using semi-structured interviews of participants enrolled in a genome sequencing/exome sequencing (GS/ES) study at the same institution where they receive clinical care. Interviews were coded for motivations to participate and expectations of this research. The interviews revealed common motivations for participation, including altruism and hope for benefit for themselves, family members, and/or others with their condition. Additionally, themes emerged related to unintentional influence based on trust of the clinical provider that recruited them to the study. Participant trust in the enrolling provider at times appeared to extend to the study team to decide which research results to return and to do so in an appropriate format. Participants also based expectations for research results return on previous clinical genetic testing experiences, which may or may not be realistic depending on study design. It is imperative that genetic counselors enrolling patients into research studies be aware of the potential influence of their clinical relationship on potential subjects, be transparent about their role on the study team, and help set expectations about the study process, including results return.

}, keywords = {Base Sequence, Decision Making, Family, Female, Genetic Testing, Humans, Informed Consent, Male, Motivation, Qualitative Research, Research Design, Trust}, issn = {1573-3599}, doi = {10.1007/s10897-017-0143-2}, author = {Berrios, Courtney and James, Cynthia A and Raraigh, Karen and Bollinger, Juli and Murray, Brittney and Tichnell, Crystal and Applegate, Carolyn D and Bergner, Amanda L} } @article {467, title = {Clinical genomics: from a truly personal genome viewpoint.}, journal = {Hum Genet}, volume = {135}, year = {2016}, month = {2016 06}, pages = {591-601}, abstract = {

The path to Clinical Genomics is punctuated by our understanding of what types of DNA structural and sequence variation contribute to disease, the many technical challenges to detect such variation genome-wide, and the initial struggles to interpret personal genome variation in the context of disease. This review describes one perspective of the development of clinical genomics; whereas the experimental challenges, and hurdles to overcoming them, might be deemed readily apparent, the non-technical issues for clinical implementation may be less obvious. Some of these latter challenges, including: (1) informed consent, (2) privacy, (3) what constitutes potentially pathogenic variation contributing to disease, (4) disease penetrance in populations, and (5) the genetic architecture of disease, and the struggles sometimes faced for solutions, are highlighted using illustrative examples.

}, keywords = {Genetic Diseases, Inborn, Genetic Variation, Genome, Human, Genomics, Humans, Informed Consent, Precision Medicine, Privacy, Sequence Analysis, DNA}, issn = {1432-1203}, doi = {10.1007/s00439-016-1682-6}, author = {Lupski, James R} } @article {221, title = {Informed consent for exome sequencing research in families with genetic disease: the emerging issue of incidental findings.}, journal = {Am J Med Genet A}, volume = {164A}, year = {2014}, month = {2014 Nov}, pages = {2745-52}, abstract = {

Genomic sequencing technology is increasingly used in genetic research. Studies of informed consent for exome and genome sequencing (ES/GS) research have largely involved hypothetical scenarios or healthy individuals enrolling in population-based studies. Studies have yet to explore the consent experiences of adults with inherited disease. We conducted a qualitative interview study of 15 adults recently enrolled in a large-scale ES/GS study (11 affected adults, four parents of affected children). Our study had two goals: (1) to explore three theoretical barriers to consent for ES/GS research (interpretive/technical complexity, possibility of incidental findings, and risks of loss of privacy); and (2) to explore how interviewees experienced the consent process. Interviewees could articulate study goals and processes, describe incidental findings, discuss risks of privacy loss, and reflect on their consent experience. Few expected the study would identify the genetic cause of their condition. All elected to receive incidental findings. Interviewees acknowledged paying little attention to potential implications of incidental findings in light of more pressing goals of supporting research regarding their own medical conditions. Interviewees suggested that experience living with a genetic condition prepared them to adjust to incidental findings. Interviewees also expressed little concern about loss of confidentiality of study data. Some experienced the consent process as very long. None desired reconsent prior to return of study results. Families with inherited disease likely would benefit from a consent process in which study risks and benefits were discussed in the context of prior experiences with genetic research and genetic disease.

}, keywords = {Adolescent, Adult, Aged, Confidentiality, Ethics, Medical, Exome, Family, Female, Genetic Diseases, Inborn, Genetic Research, High-Throughput Nucleotide Sequencing, Humans, Incidental Findings, Informed Consent, Male, Middle Aged, Young Adult}, issn = {1552-4833}, doi = {10.1002/ajmg.a.36706}, author = {Bergner, Amanda L and Bollinger, Juli and Raraigh, Karen S and Tichnell, Crystal and Murray, Brittney and Blout, Carrie Lynn and Telegrafi, Aida Bytyci and James, Cynthia A} } @article {304, title = {Practices and policies of clinical exome sequencing providers: analysis and implications.}, journal = {Am J Med Genet A}, volume = {161A}, year = {2013}, month = {2013 May}, pages = {935-50}, abstract = {

Exome and whole genome sequencing (ES/WGS) offer potential advantages over traditional approaches to diagnostic genetic testing. Consequently, use of ES/WGS in clinical settings is rapidly becoming commonplace. Yet there are myriad moral, ethical, and perhaps legal implications attached to the use of ES and health care professionals and institutions will need to consider these implications in the context of the varied practices and policies of ES service providers. We developed "core elements" of content and procedures for informed consent, data sharing, and results management and a quantitative scale to assess the extent to which research protocols met the standards established by these core elements. We then used these tools to evaluate the practices and policies of each of the 6 U.S. CLIA-certified labs offering clinical ES. Approaches toward informed consent, data sharing, and results return vary widely among ES providers as do the overall potential merits and disadvantages of each, and more importantly, the balance between the two.

}, keywords = {Exome, Humans, Information Dissemination, Informed Consent, Morals, Organizational Policy, Practice Patterns, Physicians{\textquoteright}, Sequence Analysis, DNA, United States}, issn = {1552-4833}, doi = {10.1002/ajmg.a.35942}, author = {Jamal, Seema M and Yu, Joon-Ho and Chong, Jessica X and Dent, Karin M and Conta, Jessie H and Tabor, Holly K and Bamshad, Michael J} }