The Experts below are selected from a list of 99294 Experts worldwide ranked by ideXlab platform
Zhiyong Zou - One of the best experts on this subject based on the ideXlab platform.
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early life exposure to severe famine is associated with higher methylation level in the igf2 gene and higher total cholesterol in late adulthood the Genomic Research of the chinese famine grecf study
Clinical Epigenetics, 2019Co-Authors: Luqi Shen, Zhenghe Wang, Ruiyuan Zhang, Ye Shen, Toni P Miles, Jingkai Wei, Zhiyong ZouAbstract:To evaluate the association of early-life exposure to the Chinese Great Famine (1959–1961) with DNA methylation in IGF2 and its subsequent influence on blood lipid levels in late adulthood among participants of the Genomic Research of the Chinese Famine (GRECF) study. The GRECF study recruited 790 participants born between 1956 and 1964 from 2 neighbor provinces, Anhui and Jiangxi, in China through a multistage, clustered, random sampling. The current study included a random sample of 188 GRECF participants. IGF2 differential methylation region (DMR) is an intragenic DMR located upstream of the imprinted promoters of IGF2 exon 3. DNA methylation were quantified at 8 cytosine-phosphate-guanine dinucleotides (CpG) sites at the IGF2 DMR (chr11p15.5) using the Sequenom EpiTYPER method and the MassARRAY system. Multivariate linear regressions were used to evaluate pairwise associations among famine severity, DNA methylation in the IGF2 gene, and lipid levels. We controlled for age and sex in the base model and additionally controlled for education, smoking, and drinking status in the fully adjusted model. Mediation analysis was applied to assess the mediation effect of DNA methylation at the IGF2 gene on the association between early-life exposure to severe famine and adult lipid levels. Exposure to severe famine was associated with elevated methylation at CpG1 (chr11: 2126041, build 36) of the IGF2 DMR (β = 0.07; P = 0.0008) and total cholesterol (β = 0.72; P = 1.09 × 10−7). After adjustment for age and sex, each unit increase in methylation of the CpG1 site was associated with 1.09-unit increase in total cholesterol (P = 0.03). After further adjustment for all covariates, these associations were still significant (Pfamine-CpG1 = 0.002, Pfamine-total cholesterol = 1.28 × 10−6, and PCpG1-total cholesterol = 0.05). Increased methylation level in the IGF2 gene was associated with early-life exposure to severe famine, and this change was also positively associated with total cholesterol in late adulthood.
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early life exposure to severe famine is associated with higher methylation level in the igf2 gene and higher total cholesterol in late adulthood the Genomic Research of the chinese famine grecf study
Social Science Research Network, 2019Co-Authors: Luqi Shen, Zhenghe Wang, Ruiyuan Zhang, Ye Shen, Toni P Miles, Jingkai Wei, Zhiyong ZouAbstract:Objective: To evaluate the association of early-life exposure to the Chinese Great Famine (1959-1961) with DNA methylation in IGF2 and its subsequent influence on blood lipid levels in late adulthood among participants of the Genomic Research of the Chinese Famine (GRECF) study. Methods: Among a random sample of 188 GRECF participants, DNA methylation within the IGF2 gene were quantified at 8 cytosine-phosphate-guanine dinucleotides (CpG) sites. Multivariate linear regressions were used to evaluate pairwise associations among famine severity, DNA methylation in the IGF2 gene, and lipids levels. Mediation analysis was applied to assess the mediation effect of DNA methylation at the IGF2 gene on the association between early-life exposure to severe famine and adult lipids levels. Results: Exposure to severe famine was associated with elevated methylation at CpG1 of the IGF2 gene (β=0.07; P=0.0008) and total cholesterol (TC) (β=0.72; P=1.09x10-7). After adjustment for age and sex, each unit increase in methylation of the CpG1 site was associated with 1.09-unit increase in TC (P=0.03). After additional adjustment for education, smoking, and drinking, these associations were still significant (Pfamine-CpG1=0.002, Pfamine-TC=1.28x10-6, and PCpG1-TC= 0.05). Methylation of the CpG1 site mediated 5% (P=0.30) of the association between exposure to severe famine and adult TC. Interpretation: Increased methylation level in the IGF2 gene was associated with early-life exposure to severe famine and this change was also positively associated with TC in late adulthood. Funding: The GRECF study was funded by the National Science Foundation of China (NSFC81402692). Declaration of Interest: None Ethical Approval: The GRECF study was approved by the Institute Review Board at the Peking University Health Science Center. All participants have signed consent forms.
Wendy K Chung - One of the best experts on this subject based on the ideXlab platform.
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Research participants preferences for hypothetical secondary results from Genomic Research
Journal of Genetic Counseling, 2017Co-Authors: Julia Wynn, Josue Martinez, Jimmy Duong, Codruta Chiuzan, Jo C Phelan, Abby J Fyer, Robert L Klitzman, Paul S Appelbaum, Wendy K ChungAbstract:Secondary or incidental results can be identified in Genomic Research that increasingly uses whole exome/genome sequencing. Understanding Research participants' preferences for secondary results and what influences these decisions is important for patient education, counseling, and consent, and for the development of policies regarding return of secondary results. Two hundred nineteen Research participants enrolled in Genomic studies were surveyed regarding hypothetical preferences for specific types of secondary results, and these preferences were correlated with demographic information and psychosocial data. The majority of Research participants (73%) indicated a preference to learn about all results offered, with no clear pattern regarding which results were not desired by the remaining participants. Participants who reported greater interest in genetic privacy were less likely to indicate a preference to learn all results, as were individuals who self-identified as Jewish. Although most Research participants preferred to receive all secondary results offered, a significant subset preferred to exclude some results, suggesting that an all-or-none policy would not be ideal for all participants. The correlations between preferences to receive secondary results, religious identification, and privacy concerns demonstrate the need for culturally sensitive counseling and educational materials accessible to all education levels to allow participants to make the best choices for themselves.
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Researchers views on informed consent for return of secondary results in Genomic Research
Genetics in Medicine, 2015Co-Authors: Paul S Appelbaum, Josue Martinez, Abby J Fyer, Robert L Klitzman, Erik Parens, Yuan Zhang, Wendy K ChungAbstract:Previous studies have suggested that Genomic investigators generally favor offering to return at least some secondary findings to participants and believe that participants’ preferences should determine the information they receive. We surveyed investigators to ascertain their views on four models of informed consent for this purpose: traditional consent, staged consent, mandatory return, and outsourced consent. We performed an online survey of the views regarding return of secondary results held by 198 US genetic Researchers drawn from our subject pool for an earlier study. Potential participants were identified through the National Institutes of Health RePORTER database and abstracts from the 2011 American Society of Human Genetics meeting. Under circumstances in which resource constraints are not an issue, approximately a third of respondents would endorse either staged consent or traditional consent; outsourced consent and mandatory return are favored by only a small minority. However, taking resource constraints into account, roughly half the sample would favor traditional consent, with support for staged consent dropping to 13%. Despite their liabilities, traditional approaches to consent are seen as the most viable under current circumstances. However, there is considerable interest in staged consent, assuming the infrastructure to support it can be provided. Genet Med 17 8, 644–650.
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models of consent to return of incidental findings in Genomic Research
Hastings Center Report, 2014Co-Authors: Paul S Appelbaum, Josue Martinez, Abby J Fyer, Robert L Klitzman, Cameron R Waldman, Erik Parens, Nicholson W Price, Wendy K ChungAbstract:Genomic Research—including whole genome sequencing and whole exome sequencing—has a growing presence in contemporary biomedical investigation. The capacity of sequencing techniques to generate results that go beyond the primary aims of the Research—historically and in this paper referred to as “incidental findings”a— has created considerable discussion as to how this information should be handled, i.e., whether incidental results should be returned, and if so, which ones?1 We previously reported strong support among Genomic Researchers for the return of medically actionable data, and substantial support for offering participants findings related to reproductive choices, pharmacogenetics, and highly penetrant disorders without available clinical interventions.2 Others have reported comparable results,3 and a number of expert groups have taken similar positions.4 Participants in genetic Research have been reported to be extremely interested in the receipt of most classes of genetic findings.5 Important questions remain to be answered about how incidental findings may be identified and returned to Research participants. Some Genomic studies involve interrogation of large parts of the genome, making identification of incidental findings quite likely. However, in many sequencing studies data can be filtered selectively, permitting investigators to control the extent to which incidental findings are likely to be identified.6 Whether Genomic Researchers will ultimately be deemed to have an obligation to search for certain categories of incidental findings, and how extensive those categories may be, remains undetermined. Similarly uncertain is the extent to which participants will be given the choice of which types of findings they desire to receive, although making such options available has been widely endorsed.7 In studies in which identification of incidental findings is probable and investigators undertake to make them available to participants, questions about how best to inform participants and obtain their consent inevitably arise.8 Federal regulations governing most human subjects Research in the United States require the disclosure of “the procedures to be followed” in the Research as part of the informed consent process.9 It seems reasonable to assume—and indeed, many commentators have concluded10—that the prospect of incidental findings becoming available and how they will be dealt with is one of the procedures about which Genomic investigators will be expected to inform participants. Moreover, the regulations also mandate disclosure of “reasonably foreseeable risks” and “any benefits to the subject or to others which may reasonably be expected”11; to the extent that the availability of incidental findings may evoke both risks and benefits for participants, they will need to be revealed as well.12 Other potentially relevant sections of the regulations relate to disclosure of “the extent, if any, to which confidentiality of records identifying the subject will be maintained” and “additional costs to the subject that may result from participation.”13 These are issues that Genomic investigators and institutional review boards will need to consider in drafting and reviewing informed consent procedures for Genomic Research.
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models of consent to return of incidental findings in Genomic Research
Hastings Center Report, 2014Co-Authors: Paul S Appelbaum, Abby J Fyer, Robert L Klitzman, Cameron R Waldman, Erik Parens, Nicholson W Price, Josue Natanael Martinez, Wendy K ChungAbstract:Genomic Research-including whole genome sequencing and whole exome sequencing-has a growing presence in contemporary biomedical investigation. The capacity of sequencing techniques to generate results that go beyond the primary aims of the Research-historically referred to as "incidental findings"-has generated considerable discussion as to how this information should be handled-that is, whether incidental results should be returned, and if so, which ones.Federal regulations governing most human subjects Research in the United States require the disclosure of "the procedures to be followed" in the Research as part of the informed consent process. It seems reasonable to assume-and indeed, many commentators have concluded-that Genomic investigators will be expected to inform participants about, among other procedures, the prospect that incidental findings will become available and the mechanisms for dealing with them. Investigators, most of whom will not have dealt with these issues before, will face considerable challenges in framing meaningful disclosures for Research participants.To help in this task, we undertook to identify the elements that should be included in the informed consent process related to incidental findings. We did this by surveying a large number of Genomic Researchers (n = 241) and by conducting in-depth interviews with a smaller number of Researchers (n = 28) and Genomic Research participants (n = 20). Based on these findings, it seems clear to us that routine approaches to informed consent are not likely to be effective in Genomic Research in which the prospect of incidental findings exists. Ensuring that participants' decisions are informed and meaningful will require innovative approaches to dealing with the consent issue. We have identified four prototypical models of a consent process for return of incidental findings.
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informed consent for return of incidental findings in Genomic Research
Genetics in Medicine, 2014Co-Authors: Paul S Appelbaum, Josue Martinez, Abby J Fyer, Robert L Klitzman, Cameron R Waldman, Erik Parens, Nicholson W Price, Wendy K ChungAbstract:Researchers face the dilemma of how to obtain consent for return of incidental findings from Genomic Research. We surveyed and interviewed investigators and study participants, with the goal of providing suggestions for how to shape the consent process. We performed an online survey of 254 US genetic Researchers identified through the NIH RePORTER database, abstracts from the 2011 American Society of Human Genetics meeting, and qualitative semi-structured interviews with 28 Genomic Researchers and 20 Research participants. Most Researchers and participants endorsed disclosure of a wide range of information about return of incidental findings, including risks, benefits, impact on family members, data security, and procedures, for return of results in the event of death or incapacity and for recontact. However, most Researchers were willing to devote 30 min or less to this process and expressed concerns that disclosed information would overwhelm participants, a concern shared by many participants themselves. There is a disjunction between the views of investigators and participants about the amount of information that should be disclosed and the practical realities of the Research setting, including the time available for consent discussions. This strongly suggests the need for innovative approaches to the informed consent process. Genet Med 16 5, 367–373.
Luqi Shen - One of the best experts on this subject based on the ideXlab platform.
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early life exposure to severe famine is associated with higher methylation level in the igf2 gene and higher total cholesterol in late adulthood the Genomic Research of the chinese famine grecf study
Clinical Epigenetics, 2019Co-Authors: Luqi Shen, Zhenghe Wang, Ruiyuan Zhang, Ye Shen, Toni P Miles, Jingkai Wei, Zhiyong ZouAbstract:To evaluate the association of early-life exposure to the Chinese Great Famine (1959–1961) with DNA methylation in IGF2 and its subsequent influence on blood lipid levels in late adulthood among participants of the Genomic Research of the Chinese Famine (GRECF) study. The GRECF study recruited 790 participants born between 1956 and 1964 from 2 neighbor provinces, Anhui and Jiangxi, in China through a multistage, clustered, random sampling. The current study included a random sample of 188 GRECF participants. IGF2 differential methylation region (DMR) is an intragenic DMR located upstream of the imprinted promoters of IGF2 exon 3. DNA methylation were quantified at 8 cytosine-phosphate-guanine dinucleotides (CpG) sites at the IGF2 DMR (chr11p15.5) using the Sequenom EpiTYPER method and the MassARRAY system. Multivariate linear regressions were used to evaluate pairwise associations among famine severity, DNA methylation in the IGF2 gene, and lipid levels. We controlled for age and sex in the base model and additionally controlled for education, smoking, and drinking status in the fully adjusted model. Mediation analysis was applied to assess the mediation effect of DNA methylation at the IGF2 gene on the association between early-life exposure to severe famine and adult lipid levels. Exposure to severe famine was associated with elevated methylation at CpG1 (chr11: 2126041, build 36) of the IGF2 DMR (β = 0.07; P = 0.0008) and total cholesterol (β = 0.72; P = 1.09 × 10−7). After adjustment for age and sex, each unit increase in methylation of the CpG1 site was associated with 1.09-unit increase in total cholesterol (P = 0.03). After further adjustment for all covariates, these associations were still significant (Pfamine-CpG1 = 0.002, Pfamine-total cholesterol = 1.28 × 10−6, and PCpG1-total cholesterol = 0.05). Increased methylation level in the IGF2 gene was associated with early-life exposure to severe famine, and this change was also positively associated with total cholesterol in late adulthood.
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early life exposure to severe famine is associated with higher methylation level in the igf2 gene and higher total cholesterol in late adulthood the Genomic Research of the chinese famine grecf study
Social Science Research Network, 2019Co-Authors: Luqi Shen, Zhenghe Wang, Ruiyuan Zhang, Ye Shen, Toni P Miles, Jingkai Wei, Zhiyong ZouAbstract:Objective: To evaluate the association of early-life exposure to the Chinese Great Famine (1959-1961) with DNA methylation in IGF2 and its subsequent influence on blood lipid levels in late adulthood among participants of the Genomic Research of the Chinese Famine (GRECF) study. Methods: Among a random sample of 188 GRECF participants, DNA methylation within the IGF2 gene were quantified at 8 cytosine-phosphate-guanine dinucleotides (CpG) sites. Multivariate linear regressions were used to evaluate pairwise associations among famine severity, DNA methylation in the IGF2 gene, and lipids levels. Mediation analysis was applied to assess the mediation effect of DNA methylation at the IGF2 gene on the association between early-life exposure to severe famine and adult lipids levels. Results: Exposure to severe famine was associated with elevated methylation at CpG1 of the IGF2 gene (β=0.07; P=0.0008) and total cholesterol (TC) (β=0.72; P=1.09x10-7). After adjustment for age and sex, each unit increase in methylation of the CpG1 site was associated with 1.09-unit increase in TC (P=0.03). After additional adjustment for education, smoking, and drinking, these associations were still significant (Pfamine-CpG1=0.002, Pfamine-TC=1.28x10-6, and PCpG1-TC= 0.05). Methylation of the CpG1 site mediated 5% (P=0.30) of the association between exposure to severe famine and adult TC. Interpretation: Increased methylation level in the IGF2 gene was associated with early-life exposure to severe famine and this change was also positively associated with TC in late adulthood. Funding: The GRECF study was funded by the National Science Foundation of China (NSFC81402692). Declaration of Interest: None Ethical Approval: The GRECF study was approved by the Institute Review Board at the Peking University Health Science Center. All participants have signed consent forms.
Bartha Maria Knoppers - One of the best experts on this subject based on the ideXlab platform.
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An international policy on returning Genomic Research results
'Springer Science and Business Media LLC', 2021Co-Authors: Anna C. F. Lewis, Bartha Maria Knoppers, Robert C. GreenAbstract:Abstract The Global Alliance for Genomics and Health has approved a policy for the return of clinically actionable Genomic Research results, the first such policy approved by an international body. The policy acknowledges the potential medical benefits to millions of individuals who are participating in Genomics Research. It ties the pace of implementation to each country’s clinical standards, including for the return of secondary findings, and urges funders to set aside resources to support responsible return
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return of individual Genomic Research results are laws and policies keeping step
European Journal of Human Genetics, 2019Co-Authors: Adrian Thorogood, Gratien Dalpe, Bartha Maria KnoppersAbstract:Efforts are underway to harmonise the return of individual results and incidental findings from whole genome sequencing (WGS) across Research contexts and countries. We reviewed international, regional and national laws and policies applying to return across 20 countries to identify areas of convergence and divergence. Discrepancies between laws and policies are most problematic where they cannot be reconciled through harmonisation of project-level governance. Rules for the return of results apply at different levels in different jurisdictions (e.g., human subjects Research, biobanks, clinical trials, Genomic sequencing, and genetic/personal data), complicating comparison. A particular concern for harmonisation are the (often contradictory) rules about when results must, should, may, or must not be returned. Adding confusion are different thresholds for utility (medical, familial, reproductive, and/or personal). The importance of respecting individual choices to know or not know is widely recognised, though some norms emphasise respect for personal preferences. Another troubling observation is that requirements for data quality, variant assessment, and the effective communication of results are evolving in uneven ways. There is a growing gap between Researchers with the expertise, infrastructure, and resources to meet these requirements and those without, threatening international collaboration. Best practices for the return of individual Genomic results are sorely needed to inform not only the ethical return of results, but also future legislative and policy efforts.
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public private partnerships in cloud computing services in the context of Genomic Research
Frontiers of Medicine in China, 2017Co-Authors: Palmira Granados Moreno, Yann Joly, Bartha Maria KnoppersAbstract:Public-private partnerships (PPP) have been increasingly used to spur and facilitate innovation in a number of fields. In healthcare, the purpose of using a PPP is commonly to develop and/or provide vaccines and drugs against communicable diseases, mainly in developing or underdeveloped countries. With the advancement of technology and of the area of Genomics, these partnerships also focus on large-scale Genomic Research projects that aim to advance the understanding of diseases that have a genetic component and to develop personalized treatments. This new focus has created new forms of PPPs that involve information technology companies, who provide computing infrastructure and services to store, analyze, and share the massive amounts of data Genomic-related projects produce. In this article, we explore models of PPPs proposed to handle, protect, and share the Genomic data collected and to further develop Genomic-based medical products. We also identify the reasons that make these models suitable and the challenges they have yet to overcome. To achieve this, we describe the details and complexities of MSSNG, ICGC, and 100,000 Genomes Project, three PPPs that focus on large-scale Genomic Research to better understand the genetic components of autism, cancer, rare diseases, and infectious diseases with the intention to find appropriate treatments. Organized as PPP and employing cloud-computing services, the three projects have advanced quickly and are likely to be important sources of Research and development for future personalized medicine. However, there still are unresolved matters relating to conflicts of interest, commercialization, and data control. Learning from the challenges encountered by past PPPs allowed us to establish that developing guidelines to adequately manage personal health information stored in clouds, and ensuring the protection of data integrity and privacy would be critical steps in the development of future PPPs.
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building a data sharing model for global Genomic Research
Genome Biology, 2014Co-Authors: Patricia Kosseim, Jane Kaye, Eric M. Meslin, Edward S Dove, Carman Baggaley, Fred H Cate, Jennifer R Harris, Bartha Maria KnoppersAbstract:Data sharing models designed to facilitate global business provide insights for improving transborder Genomic data sharing. We argue that a flexible, externally endorsed, multilateral arrangement, combined with an objective third-party assurance mechanism, can effectively balance privacy with the need to share Genomic data globally.
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Attitudes of parents toward the return of targeted and incidental Genomic Research findings in children.
Genetics in Medicine, 2014Co-Authors: Conrad V. Fernandez, Bartha Maria Knoppers, Eric Bouffet, David Malkin, Nada Jabado, Colleen O’connell, Denise Avard, Meghan Ferguson, Kym M. Boycott, Poul H. SorensenAbstract:Attitudes of parents toward the return of targeted and incidental Genomic Research findings in children
Paul S Appelbaum - One of the best experts on this subject based on the ideXlab platform.
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Research participants preferences for hypothetical secondary results from Genomic Research
Journal of Genetic Counseling, 2017Co-Authors: Julia Wynn, Josue Martinez, Jimmy Duong, Codruta Chiuzan, Jo C Phelan, Abby J Fyer, Robert L Klitzman, Paul S Appelbaum, Wendy K ChungAbstract:Secondary or incidental results can be identified in Genomic Research that increasingly uses whole exome/genome sequencing. Understanding Research participants' preferences for secondary results and what influences these decisions is important for patient education, counseling, and consent, and for the development of policies regarding return of secondary results. Two hundred nineteen Research participants enrolled in Genomic studies were surveyed regarding hypothetical preferences for specific types of secondary results, and these preferences were correlated with demographic information and psychosocial data. The majority of Research participants (73%) indicated a preference to learn about all results offered, with no clear pattern regarding which results were not desired by the remaining participants. Participants who reported greater interest in genetic privacy were less likely to indicate a preference to learn all results, as were individuals who self-identified as Jewish. Although most Research participants preferred to receive all secondary results offered, a significant subset preferred to exclude some results, suggesting that an all-or-none policy would not be ideal for all participants. The correlations between preferences to receive secondary results, religious identification, and privacy concerns demonstrate the need for culturally sensitive counseling and educational materials accessible to all education levels to allow participants to make the best choices for themselves.
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Researchers views on informed consent for return of secondary results in Genomic Research
Genetics in Medicine, 2015Co-Authors: Paul S Appelbaum, Josue Martinez, Abby J Fyer, Robert L Klitzman, Erik Parens, Yuan Zhang, Wendy K ChungAbstract:Previous studies have suggested that Genomic investigators generally favor offering to return at least some secondary findings to participants and believe that participants’ preferences should determine the information they receive. We surveyed investigators to ascertain their views on four models of informed consent for this purpose: traditional consent, staged consent, mandatory return, and outsourced consent. We performed an online survey of the views regarding return of secondary results held by 198 US genetic Researchers drawn from our subject pool for an earlier study. Potential participants were identified through the National Institutes of Health RePORTER database and abstracts from the 2011 American Society of Human Genetics meeting. Under circumstances in which resource constraints are not an issue, approximately a third of respondents would endorse either staged consent or traditional consent; outsourced consent and mandatory return are favored by only a small minority. However, taking resource constraints into account, roughly half the sample would favor traditional consent, with support for staged consent dropping to 13%. Despite their liabilities, traditional approaches to consent are seen as the most viable under current circumstances. However, there is considerable interest in staged consent, assuming the infrastructure to support it can be provided. Genet Med 17 8, 644–650.
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models of consent to return of incidental findings in Genomic Research
Hastings Center Report, 2014Co-Authors: Paul S Appelbaum, Josue Martinez, Abby J Fyer, Robert L Klitzman, Cameron R Waldman, Erik Parens, Nicholson W Price, Wendy K ChungAbstract:Genomic Research—including whole genome sequencing and whole exome sequencing—has a growing presence in contemporary biomedical investigation. The capacity of sequencing techniques to generate results that go beyond the primary aims of the Research—historically and in this paper referred to as “incidental findings”a— has created considerable discussion as to how this information should be handled, i.e., whether incidental results should be returned, and if so, which ones?1 We previously reported strong support among Genomic Researchers for the return of medically actionable data, and substantial support for offering participants findings related to reproductive choices, pharmacogenetics, and highly penetrant disorders without available clinical interventions.2 Others have reported comparable results,3 and a number of expert groups have taken similar positions.4 Participants in genetic Research have been reported to be extremely interested in the receipt of most classes of genetic findings.5 Important questions remain to be answered about how incidental findings may be identified and returned to Research participants. Some Genomic studies involve interrogation of large parts of the genome, making identification of incidental findings quite likely. However, in many sequencing studies data can be filtered selectively, permitting investigators to control the extent to which incidental findings are likely to be identified.6 Whether Genomic Researchers will ultimately be deemed to have an obligation to search for certain categories of incidental findings, and how extensive those categories may be, remains undetermined. Similarly uncertain is the extent to which participants will be given the choice of which types of findings they desire to receive, although making such options available has been widely endorsed.7 In studies in which identification of incidental findings is probable and investigators undertake to make them available to participants, questions about how best to inform participants and obtain their consent inevitably arise.8 Federal regulations governing most human subjects Research in the United States require the disclosure of “the procedures to be followed” in the Research as part of the informed consent process.9 It seems reasonable to assume—and indeed, many commentators have concluded10—that the prospect of incidental findings becoming available and how they will be dealt with is one of the procedures about which Genomic investigators will be expected to inform participants. Moreover, the regulations also mandate disclosure of “reasonably foreseeable risks” and “any benefits to the subject or to others which may reasonably be expected”11; to the extent that the availability of incidental findings may evoke both risks and benefits for participants, they will need to be revealed as well.12 Other potentially relevant sections of the regulations relate to disclosure of “the extent, if any, to which confidentiality of records identifying the subject will be maintained” and “additional costs to the subject that may result from participation.”13 These are issues that Genomic investigators and institutional review boards will need to consider in drafting and reviewing informed consent procedures for Genomic Research.
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models of consent to return of incidental findings in Genomic Research
Hastings Center Report, 2014Co-Authors: Paul S Appelbaum, Abby J Fyer, Robert L Klitzman, Cameron R Waldman, Erik Parens, Nicholson W Price, Josue Natanael Martinez, Wendy K ChungAbstract:Genomic Research-including whole genome sequencing and whole exome sequencing-has a growing presence in contemporary biomedical investigation. The capacity of sequencing techniques to generate results that go beyond the primary aims of the Research-historically referred to as "incidental findings"-has generated considerable discussion as to how this information should be handled-that is, whether incidental results should be returned, and if so, which ones.Federal regulations governing most human subjects Research in the United States require the disclosure of "the procedures to be followed" in the Research as part of the informed consent process. It seems reasonable to assume-and indeed, many commentators have concluded-that Genomic investigators will be expected to inform participants about, among other procedures, the prospect that incidental findings will become available and the mechanisms for dealing with them. Investigators, most of whom will not have dealt with these issues before, will face considerable challenges in framing meaningful disclosures for Research participants.To help in this task, we undertook to identify the elements that should be included in the informed consent process related to incidental findings. We did this by surveying a large number of Genomic Researchers (n = 241) and by conducting in-depth interviews with a smaller number of Researchers (n = 28) and Genomic Research participants (n = 20). Based on these findings, it seems clear to us that routine approaches to informed consent are not likely to be effective in Genomic Research in which the prospect of incidental findings exists. Ensuring that participants' decisions are informed and meaningful will require innovative approaches to dealing with the consent issue. We have identified four prototypical models of a consent process for return of incidental findings.
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informed consent for return of incidental findings in Genomic Research
Genetics in Medicine, 2014Co-Authors: Paul S Appelbaum, Josue Martinez, Abby J Fyer, Robert L Klitzman, Cameron R Waldman, Erik Parens, Nicholson W Price, Wendy K ChungAbstract:Researchers face the dilemma of how to obtain consent for return of incidental findings from Genomic Research. We surveyed and interviewed investigators and study participants, with the goal of providing suggestions for how to shape the consent process. We performed an online survey of 254 US genetic Researchers identified through the NIH RePORTER database, abstracts from the 2011 American Society of Human Genetics meeting, and qualitative semi-structured interviews with 28 Genomic Researchers and 20 Research participants. Most Researchers and participants endorsed disclosure of a wide range of information about return of incidental findings, including risks, benefits, impact on family members, data security, and procedures, for return of results in the event of death or incapacity and for recontact. However, most Researchers were willing to devote 30 min or less to this process and expressed concerns that disclosed information would overwhelm participants, a concern shared by many participants themselves. There is a disjunction between the views of investigators and participants about the amount of information that should be disclosed and the practical realities of the Research setting, including the time available for consent discussions. This strongly suggests the need for innovative approaches to the informed consent process. Genet Med 16 5, 367–373.