@article {347,
	title = {Choices for return of primary and secondary genomic research results of 790 members of families with Mendelian disease.},
	journal = {Eur J Hum Genet},
	volume = {25},
	year = {2017},
	month = {2017 05},
	pages = {530-537},
	abstract = {<p>Although consensus is building that primary (PR) and secondary findings (SF) from genomic research should be offered to participants under some circumstances, data describing (1) actual choices of study participants and (2) factors associated with these choices are limited, hampering study planning. We conducted a cross-sectional analysis of choices made for return of PR and SF during informed consent by members of the first 247 families (790 individuals) enrolled in the Baylor-Hopkins Center for Mendelian Genomics, a genome sequencing study. Most (619; 78.3\%) chose to receive SF and PR, 66 (8.4\%) chose PR only, 65 (8.2\%) wanted no results, and 40 (5.1\%) chose SF only. Choosing SF was associated with an established clinical diagnosis in the proband (87.8 vs 79\%, P=0.009) and European ancestry (EA) (87.7 vs 73\%, P<0.008). Participants of non-European ancestry (NEA) were as likely as those of EA to choose SF when consented by a genetic counselor (GC) (82\% NEA vs 88.3\% EA, P=0.09) but significantly less likely when consented by a physician (67.4\% NEA vs 85.4\% EA, P=0.001). Controlling for proband diagnosis, individuals of NEA were 2.13-fold (95\% CI: 1.11-4.08) more likely to choose SF when consented by a GC rather than a physician. Participants of NEA were 3-fold more likely than those of EA to decline all study results (14.7\% NEA vs 5.4\% EA, P<0.008). In this ethnically diverse population, whereas most participants desired PR and SF, more than 20\% declined some or all results, highlighting the importance of research participant choice.</p>},
	keywords = {Databases, Genetic, Female, Genetic Diseases, Inborn, Genome, Human, Genome-Wide Association Study, Humans, Male, Pedigree, Research Subjects},
	issn = {1476-5438},
	doi = {10.1038/ejhg.2017.21},
	author = {Fiallos, Katie and Applegate, Carolyn and Mathews, Debra Jh and Bollinger, Juli and Bergner, Amanda L and James, Cynthia A}
}
@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 = {<p>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.</p>},
	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}
}
