The Experts below are selected from a list of 2247 Experts worldwide ranked by ideXlab platform
Dimitrios H Roukos - One of the best experts on this subject based on the ideXlab platform.
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Personalized cancer diagnostics and therapeutics
Expert Review of Molecular Diagnostics, 2009Co-Authors: Dimitrios H RoukosAbstract:Dimitrios H Roukos studied Medicine at the University of Athens, Greece, and specialized in General Surgery at the JW Goethe-University Hospital in Frankfurt (1983–1989), Germany, where he received the title Dr med. Since 1990, Roukos has worked at Ioannina University School of Medicine. His current research activity includes the integration of both standard clinical and treatment data, and genetics/Personal Genomics/protein interactions/signaling pathways network data to predict a genotypic (QTLs) and phenotypic (cancer diversity) map. He also works to integrate systems biology, in silico, bioinformatics and reverse engineering data to achieve Personalized cancer biomedicine. In the past he has published innovative models, algorithms, concepts and invited papers (including editorials and perspectives). He has also participated in keynote plenary presentations and lectures (Quest speaker international meetings). He has acheived over 1500 citations, a Hirsch factor of 28 and a total impact factor of over 600.
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genetics and Personal Genomics for Personalized breast cancer surgery progress and challenges in research and clinical practice
Annals of Surgical Oncology, 2009Co-Authors: Dimosthenis Ziogas, Dimitrios H RoukosAbstract:Background The age of Personal Genomics is here. A flood of translational research discoveries may influence also surgeon oncologist. Breast-conserving surgery (BCS) is standard care in early breast cancer. Classic clinicopathologic factors are suboptimal to predict risk of ipsilateral breast cancer (IBC) recurrence and/or contralateral breast cancer (CBC). Human genetic variation may be involved in local failures.
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genetics and Personal Genomics for Personalized breast cancer surgery progress and challenges in research and clinical practice
Annals of Surgical Oncology, 2009Co-Authors: Dimosthenis Ziogas, Dimitrios H RoukosAbstract:The age of Personal Genomics is here. A flood of translational research discoveries may influence also surgeon oncologist. Breast-conserving surgery (BCS) is standard care in early breast cancer. Classic clinicopathologic factors are suboptimal to predict risk of ipsilateral breast cancer (IBC) recurrence and/or contralateral breast cancer (CBC). Human genetic variation may be involved in local failures. To describe the potential clinical utility of genetics, Personal Genomics, and epigenetics to identify IBC/CBC high-risk patients who might benefit from aggressive surgery (bilateral mastectomy). PubMed (MEDLINE) was searched (January 1990 to November 2008). Even following current guidelines, IBC/CBC as isolated first event in a long-term aspect after treatment suggests a serious problem. Preclinical and clinical data reveal that at highest risk of IBC/CBC are patients with inherited BRCA1/2 mutations who benefited from bilateral mastectomy. Local failure risk prediction is currently unfeasible among familial non-BRCA1/2 (BRCA-test negative) and sporadic (no family history) breast cancer. Genome-wide association studies have already identified novel risk alleles with a series of tumor-initiating single-nucleotide polymorphisms (SNPs). Some of these variants and other novel SNPs and copy-number variants (CNVs) may also be relevant for local failures (IBC/CBC). Beyond established risk factors, genetic testing allows identification of high-risk patients (BRCA mutation carriers) who may benefit from bilateral mastectomy rather than BCS. Human genetic variation (SNPs/CNVs) and DNA methylation may be relevant for local failures assessment. Technological revolution has opened a new avenue but multiple challenges should be overcome to integrate SNPs/CNVs as markers for IBC/CBC risk-stratification-based Personalized surgery.
Scott J Roberts - One of the best experts on this subject based on the ideXlab platform.
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genetic counseling following direct to consumer genetic testing consumer perspectives
Journal of Genetic Counseling, 2021Co-Authors: Tessa Marzulla, Scott J Roberts, Raymond Devries, Diane R Koeller, Robert C Green, Wendy R UhlmannAbstract:As the use and scope of direct-to-consumer genetic testing (DTC GT), also becoming known as consumer-driven genetic testing, increases, consumers may seek genetic counseling to understand their results and determine healthcare implications. In this study, we interviewed individuals who sought genetic counseling after receiving DTC GT results to explore their motivations, expectations, and experiences. Participants were recruited from the Impact of Personal Genomics (PGen) Study, a longitudinal cohort study of DTC GT customers. We interviewed 15 participants (9 females, mean age = 38 years) by telephone and analyzed the double-coded transcripts using qualitative methods. Motivations for genetic counseling included family and Personal health histories, concern and confusion about results, and information-seeking; of note, one-third of our interview participants had Ehlers-Danlos syndrome Type III (hypermobility type). Expectations of genetic counseling sessions were high. Participants generally saw DTC GT results as valid and potentially impactful for their healthcare, wanted more thorough explanations in "layman's terms," a pooling of their results with their family and Personal health history and a "game plan." Several participants had already accessed online resources, including resources typically used by genetics clinicians. Our results point to several elements of a successful DTC GT genetic counseling session: 1) effective contracting when starting the clinic visit, especially determining motivations for genetic counseling, results that are concerning/confusing and resources already accessed; 2) ascertainment and management of expectations and clearly communicating if and why all results may not be reviewed; 3) explaining how DTC GT differs from clinical genetic testing and why additional testing may not be indicated and 4) listening to (not dismissing) patient concerns about their results. For those patients who seek genetic counseling about DTC GT results, the findings from our study can help inform case preparation and provision of genetic counseling.
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utilization of genetic counseling after direct to consumer genetic testing findings from the impact of Personal Genomics pgen study
Journal of Genetic Counseling, 2017Co-Authors: Diane R Koeller, Robert C Green, Wendy R Uhlmann, Deanna Alexis Carere, Scott J RobertsAbstract:Direct-to-consumer Personal genomic testing (DTC-PGT) results lead some individuals to seek genetic counseling (GC), but little is known about these consumers and why they seek GC services. We analyzed survey data pre- and post-PGT from 1026 23andMe and Pathway Genomics customers. Participants were mostly white (91%), female (60%), and of high socioeconomic status (80% college educated, 43% household income of ≥$100,000). After receiving PGT results, 43 participants (4%) made or planned to schedule an appointment with a genetic counselor; 390 (38%) would have used in-person GC had it been available. Compared to non-seekers, GC seekers were younger (mean age of 38 vs 46 years), more frequently had children <18 (26% vs 16%), and were more likely to report previous GC (37% vs 7%) and genetic testing (30% vs 15%). In logistic regression analysis, seeking GC was associated with previous GC use (OR = 6.5, CI = 3.1–13.8), feeling motivated to pursue DTC-PGT for health reasons (OR = 4.3, CI = 1.8–10.1), fair or poor self-reported health (OR = 3.1, CI = 1.1–8.3), and self-reported uncertainty about the results (OR = 1.8, CI = 1.1–2.7). These findings can help GC providers anticipate who might seek GC services and plan for clinical discussions of DTC-PGT results.
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prescription medication changes following direct to consumer Personal genomic testing findings from the impact of Personal Genomics pgen study
Genetics in Medicine, 2017Co-Authors: Deanna Alexis Carere, Scott J Roberts, Robert C Green, Tyler J Vanderweele, Jason L Vassy, Cathelijne H Van Der Wouden, Peter KraftAbstract:To measure the frequency of prescription medication changes following direct-to-consumer Personal genomic testing (DTC-PGT) and their association with the pharmacogenomic results received. New DTC-PGT customers were enrolled in 2012 and completed surveys prior to the return of results and 6 months after results; DTC-PGT results were linked to survey data. “Atypical response” pharmacogenomic results were defined as those indicating an increase or decrease in risk of an adverse drug event or likelihood of therapeutic benefit. At follow-up, participants reported prescription medication changes and health-care provider consultation. Follow-up data were available from 961 participants, of whom 54 (5.6%) reported changing a medication they were taking or starting a new medication due to their DTC-PGT results. Of these, 45 (83.3%) reported consulting with a health-care provider regarding the change. Pharmacogenomic results were available for 961 participants, of which 875 (91.2%) received one or more atypical response results. For each such result received, the odds of reporting a prescription medication change increased 1.57 times (95% confidence interval = 1.17, 2.11). Receipt of pharmacogenomic results indicating an atypical drug response is common with DTC-PGT and is associated with prescription medication changes; however, fewer than 1% of consumers report unsupervised changes at 6 months after testing. Genet Med advance online publication 22 September 2016
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Personal genomic testing for cancer risk results from the impact of Personal Genomics study
Journal of Clinical Oncology, 2017Co-Authors: Stacy W Gray, Sarah E Gollust, Deanna Alexis Carere, Clara Chen, Angel M Cronin, Sarah S Kalia, Huma Q Rana, Mack T Ruffin, Catharine Wang, Scott J RobertsAbstract:PurposeSignificant concerns exist regarding the potential for unwarranted behavior changes and the overuse of health care resources in response to direct-to-consumer Personal genomic testing (PGT). However, little is known about customers’ behaviors after PGT.MethodsLongitudinal surveys were given to new customers of 23andMe (Mountain View, CA) and Pathway Genomics (San Diego, CA). Survey data were linked to individual-level PGT results through a secure data transfer process.ResultsOf the 1,042 customers who completed baseline and 6-month surveys (response rate, 71.2%), 762 had complete cancer-related data and were analyzed. Most customers reported that learning about their genetic risk of cancers was a motivation for testing (colorectal, 88%; prostate, 95%; breast, 94%). No customers tested positive for pathogenic mutations in highly penetrant cancer susceptibility genes. A minority of individuals received elevated single nucleotide polymorphism-based PGT cancer risk estimates (colorectal, 24%; prostate,...
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how well do customers of direct to consumer Personal genomic testing services comprehend genetic test results findings from the impact of Personal Genomics study
Public Health Genomics, 2015Co-Authors: Jenny E Ostergren, Robert C Green, Wendy R Uhlmann, Joanna L Mountain, Deanna Alexis Carere, Sarah S Kalia, Mack T Ruffin, Michele C Gornick, Scott J RobertsAbstract:Aim: To assess customer comprehension of health-related Personal genomic testing (PGT) results. Methods: We presented sample
Robert C Green - One of the best experts on this subject based on the ideXlab platform.
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genetic counseling following direct to consumer genetic testing consumer perspectives
Journal of Genetic Counseling, 2021Co-Authors: Tessa Marzulla, Scott J Roberts, Raymond Devries, Diane R Koeller, Robert C Green, Wendy R UhlmannAbstract:As the use and scope of direct-to-consumer genetic testing (DTC GT), also becoming known as consumer-driven genetic testing, increases, consumers may seek genetic counseling to understand their results and determine healthcare implications. In this study, we interviewed individuals who sought genetic counseling after receiving DTC GT results to explore their motivations, expectations, and experiences. Participants were recruited from the Impact of Personal Genomics (PGen) Study, a longitudinal cohort study of DTC GT customers. We interviewed 15 participants (9 females, mean age = 38 years) by telephone and analyzed the double-coded transcripts using qualitative methods. Motivations for genetic counseling included family and Personal health histories, concern and confusion about results, and information-seeking; of note, one-third of our interview participants had Ehlers-Danlos syndrome Type III (hypermobility type). Expectations of genetic counseling sessions were high. Participants generally saw DTC GT results as valid and potentially impactful for their healthcare, wanted more thorough explanations in "layman's terms," a pooling of their results with their family and Personal health history and a "game plan." Several participants had already accessed online resources, including resources typically used by genetics clinicians. Our results point to several elements of a successful DTC GT genetic counseling session: 1) effective contracting when starting the clinic visit, especially determining motivations for genetic counseling, results that are concerning/confusing and resources already accessed; 2) ascertainment and management of expectations and clearly communicating if and why all results may not be reviewed; 3) explaining how DTC GT differs from clinical genetic testing and why additional testing may not be indicated and 4) listening to (not dismissing) patient concerns about their results. For those patients who seek genetic counseling about DTC GT results, the findings from our study can help inform case preparation and provision of genetic counseling.
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utilization of genetic counseling after direct to consumer genetic testing findings from the impact of Personal Genomics pgen study
Journal of Genetic Counseling, 2017Co-Authors: Diane R Koeller, Robert C Green, Wendy R Uhlmann, Deanna Alexis Carere, Scott J RobertsAbstract:Direct-to-consumer Personal genomic testing (DTC-PGT) results lead some individuals to seek genetic counseling (GC), but little is known about these consumers and why they seek GC services. We analyzed survey data pre- and post-PGT from 1026 23andMe and Pathway Genomics customers. Participants were mostly white (91%), female (60%), and of high socioeconomic status (80% college educated, 43% household income of ≥$100,000). After receiving PGT results, 43 participants (4%) made or planned to schedule an appointment with a genetic counselor; 390 (38%) would have used in-person GC had it been available. Compared to non-seekers, GC seekers were younger (mean age of 38 vs 46 years), more frequently had children <18 (26% vs 16%), and were more likely to report previous GC (37% vs 7%) and genetic testing (30% vs 15%). In logistic regression analysis, seeking GC was associated with previous GC use (OR = 6.5, CI = 3.1–13.8), feeling motivated to pursue DTC-PGT for health reasons (OR = 4.3, CI = 1.8–10.1), fair or poor self-reported health (OR = 3.1, CI = 1.1–8.3), and self-reported uncertainty about the results (OR = 1.8, CI = 1.1–2.7). These findings can help GC providers anticipate who might seek GC services and plan for clinical discussions of DTC-PGT results.
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prescription medication changes following direct to consumer Personal genomic testing findings from the impact of Personal Genomics pgen study
Genetics in Medicine, 2017Co-Authors: Deanna Alexis Carere, Scott J Roberts, Robert C Green, Tyler J Vanderweele, Jason L Vassy, Cathelijne H Van Der Wouden, Peter KraftAbstract:To measure the frequency of prescription medication changes following direct-to-consumer Personal genomic testing (DTC-PGT) and their association with the pharmacogenomic results received. New DTC-PGT customers were enrolled in 2012 and completed surveys prior to the return of results and 6 months after results; DTC-PGT results were linked to survey data. “Atypical response” pharmacogenomic results were defined as those indicating an increase or decrease in risk of an adverse drug event or likelihood of therapeutic benefit. At follow-up, participants reported prescription medication changes and health-care provider consultation. Follow-up data were available from 961 participants, of whom 54 (5.6%) reported changing a medication they were taking or starting a new medication due to their DTC-PGT results. Of these, 45 (83.3%) reported consulting with a health-care provider regarding the change. Pharmacogenomic results were available for 961 participants, of which 875 (91.2%) received one or more atypical response results. For each such result received, the odds of reporting a prescription medication change increased 1.57 times (95% confidence interval = 1.17, 2.11). Receipt of pharmacogenomic results indicating an atypical drug response is common with DTC-PGT and is associated with prescription medication changes; however, fewer than 1% of consumers report unsupervised changes at 6 months after testing. Genet Med advance online publication 22 September 2016
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how well do customers of direct to consumer Personal genomic testing services comprehend genetic test results findings from the impact of Personal Genomics study
Public Health Genomics, 2015Co-Authors: Jenny E Ostergren, Robert C Green, Wendy R Uhlmann, Joanna L Mountain, Deanna Alexis Carere, Sarah S Kalia, Mack T Ruffin, Michele C Gornick, Scott J RobertsAbstract:Aim: To assess customer comprehension of health-related Personal genomic testing (PGT) results. Methods: We presented sample
Dimosthenis Ziogas - One of the best experts on this subject based on the ideXlab platform.
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genetics and Personal Genomics for Personalized breast cancer surgery progress and challenges in research and clinical practice
Annals of Surgical Oncology, 2009Co-Authors: Dimosthenis Ziogas, Dimitrios H RoukosAbstract:Background The age of Personal Genomics is here. A flood of translational research discoveries may influence also surgeon oncologist. Breast-conserving surgery (BCS) is standard care in early breast cancer. Classic clinicopathologic factors are suboptimal to predict risk of ipsilateral breast cancer (IBC) recurrence and/or contralateral breast cancer (CBC). Human genetic variation may be involved in local failures.
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genetics and Personal Genomics for Personalized breast cancer surgery progress and challenges in research and clinical practice
Annals of Surgical Oncology, 2009Co-Authors: Dimosthenis Ziogas, Dimitrios H RoukosAbstract:The age of Personal Genomics is here. A flood of translational research discoveries may influence also surgeon oncologist. Breast-conserving surgery (BCS) is standard care in early breast cancer. Classic clinicopathologic factors are suboptimal to predict risk of ipsilateral breast cancer (IBC) recurrence and/or contralateral breast cancer (CBC). Human genetic variation may be involved in local failures. To describe the potential clinical utility of genetics, Personal Genomics, and epigenetics to identify IBC/CBC high-risk patients who might benefit from aggressive surgery (bilateral mastectomy). PubMed (MEDLINE) was searched (January 1990 to November 2008). Even following current guidelines, IBC/CBC as isolated first event in a long-term aspect after treatment suggests a serious problem. Preclinical and clinical data reveal that at highest risk of IBC/CBC are patients with inherited BRCA1/2 mutations who benefited from bilateral mastectomy. Local failure risk prediction is currently unfeasible among familial non-BRCA1/2 (BRCA-test negative) and sporadic (no family history) breast cancer. Genome-wide association studies have already identified novel risk alleles with a series of tumor-initiating single-nucleotide polymorphisms (SNPs). Some of these variants and other novel SNPs and copy-number variants (CNVs) may also be relevant for local failures (IBC/CBC). Beyond established risk factors, genetic testing allows identification of high-risk patients (BRCA mutation carriers) who may benefit from bilateral mastectomy rather than BCS. Human genetic variation (SNPs/CNVs) and DNA methylation may be relevant for local failures assessment. Technological revolution has opened a new avenue but multiple challenges should be overcome to integrate SNPs/CNVs as markers for IBC/CBC risk-stratification-based Personalized surgery.
Mildred K Cho - One of the best experts on this subject based on the ideXlab platform.
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Medical and graduate students' attitudes toward Personal Genomics
Genetics in Medicine, 2011Co-Authors: Kelly E Ormond, Louanne Hudgins, Jennifer M Ladd, David M Magnus, Henry T Greely, Mildred K ChoAbstract:Purpose: Medical schools are being approached by direct-to-consumer genotyping companies about genotyping faculty or trainees as a method to “teach” them about the potential implications of genotyping. In thinking about the future incorporation of genotyping into a graduate level genetics course, the purpose of this study was 2-fold: first, to assess knowledge, attitudes, and beliefs of students toward Personal Genomics as it related to themselves as both as customers and future physicians and as it related to consumers at large, and second, to determine the impact of the course (as taught without genotyping) on knowledge, attitudes, and beliefs. Methods: We surveyed first-year medical students and graduate students before and after a core genetics course. Results: After the course, students were less likely to believe that genotyping information would be useful to physicians, patients, or consumers; genotyping would provide information to improve their own Personal health; or Personal genomic testing services are diagnostic of medical conditions. They were more likely to answer knowledge questions accurately after the course but still had difficulty with clinical interpretation. Despite these changes, a slight majority of students were, and remained, interested in undergoing genotyping themselves. Of note, the number who believed genotyping “would help them understand genetic concepts better than someone else's data” decreased. General curiosity was the most commonly chosen reason for interest in undergoing genotyping, and approximately 50% of respondents expressed concern about confidentiality of results. Conclusions: In conclusion, even without the genotyping process, an educational program about genotyping increased knowledge, particularly about the clinical limitations of genotyping, but student interest in genotyping did not significantly change. Institutions thinking about offering genotyping to their students as part of a learning experience should consider the pros and cons of doing so.
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Research ethics recommendations for whole-genome research: consensus statement.
PLoS biology, 2008Co-Authors: Timothy Caulfield, Mildred K Cho, Amy L Mcguire, Janet A. Buchanan, Michael M. Burgess, Ursula Danilczyk, Christina M. Diaz, Kelly Fryer-edwards, Shane K. Green, Marc A. HodoshAbstract:Advances in technology have made it possible to sequence a whole human genome [1,2]. National and international funding initiatives have stimulated whole-genome research activities [3,4], and media coverage of both the science [5,6] and the emerging commercial offerings [7,8] related to genome research has heightened public awareness and interest in Personal Genomics. As technology continues to advance, whole-genome research activities seem likely to intensify and expand, necessitating carefully considered consensus guidelines for ethical research practice. To date, there has been only minimal consideration of the research ethics issues associated with this work [9–12]. We therefore convened an interdisciplinary consensus workshop to develop ethically rigorous and practical guidance for investigators and research ethics boards. What follows are recommendations on the four topics that were the focus of the workshop. These topics—consent, withdrawal from research, return of research results, and public data release—were selected because they were viewed as being among the most pressing research ethics issues and as representing areas where whole-genome analysis creates unique challenges. They are not, of course, the only policy issues that need to be considered; commercialization, patenting, benefit sharing, and the possibility of genetic discrimination are among other topics that warrant reflection. Regardless, the four topics covered in this paper are current issues worthy of immediate attention. The paper starts with initial considerations, including general recommendations about governance and the characterization of the research activities related to the whole genome. It is important to note that while there was consensus on all recommendations, there was a good deal of debate about the degree to which they satisfy existing ethical and legal norms [13]. All participants believed that we need both empirical research and continued conceptual analysis (Box 1). These are early days in the field of whole-genome research. Research ethics guidance is needed immediately, but we should continue to explore the ethical, legal, and social implications of this rapidly evolving field (Box 2). Indeed, the door must remain open for further reflection on these and other social concerns. Box 1. Ethical Questions for the Future The following is a list of research ethics questions that warrant future investigation and analysis. It is not an exhaustive list of the research ethics questions associated with whole-genome research. Duty to Recontact: Given the numerous disciplines and health care providers potentially involved in whole-genome research, further analysis of the legal and ethical obligations of each (particularly in the context of return of results) seems warranted. Who has what obligations? Who, if anyone, has the duty to return results? Is there a “chain of obligation” that runs through the various members of a research team? Right to Withdraw: Because of the potential for the rapid dissemination of research results, the right to withdraw can quickly become impractical. This raises the issue of the degree to which there is an ethical requirement to structure the research and dissemination of results in a manner that will allow the right to withdraw to endure as long as possible. As such, this issue should be investigated with consideration of existing and evolving legal and ethical norms, emerging information technology tools that may facilitate withdrawal, and governance structures that can be implemented. Risk/Benefit Analysis: There is a need for a comprehensive risk/benefit analysis of public data sharing. Studies that explore the impact on research of restricted access versus open access would be useful, and should include a consideration of costs and actual risk of harm. Governance Structures: There is a need to systematically evaluate existing and emerging governance structures. This should include a consideration of the ways in which new information technologies can be utilized to facilitate, inter alia: continued communication with participants; the continued right to withdraw; and, when appropriate, community engagement. Box 2. Personal Genome Research: What Are the Possible Risks? By Timothy Caulfield, Mildred Cho, and Amy McGuire The ability to sequence an individual's entire genome will allow for the production of an unprecedented amount of detailed genetic information, helping researchers to explore the relationship of genes and environment in the development of a wide variety of human diseases. But imagine being a research participant in this exciting new field. Researchers would be seeking to produce a record of all your genetic information. As a result, all known genetic predispositions will be available and, depending on the data sharing policy, accessible to a wide range of researchers and, possibly, the public at large—this, at a time when we are still seeking to understand the social, clinical, and Personal implications of genetic information. These uncertainties can create unique ethical challenges. What do you tell potential participants during the consent process about risks when we still don't have a clear sense of their nature? Also, it is difficult to know, at the time of recruitment, exactly how the genetic information will be used, and by whom. While most of the risks remain speculative, and we imagine that much of this research will be conducted by highly respected researchers at leading academic centers, one can imagine a number of controversial scenarios. Some of these may seem far-fetched, and we do not intend to be alarmist, but it is important to recognize that just one breach similar to those described below, or even the threat of such a breach, could hurt public trust and significantly hamper the ability to conduct genetic research. Imagine you are watching the news and learn about a study linking race to IQ, which you find offensive. You later learn that they used your DNA for this study. You donated your DNA five years ago for use in a genetic association study of cancer and heart disease. At the time, you were told that other researchers might want to use your DNA for other types of research. You want to withdraw your consent, but it is too late. Your genetic information has been analyzed by many researchers and is now integrated in databanks throughout the world. Imagine that you are sitting home, minding your own business, and the police show up at your door with a search warrant. They are looking for the suspect from a crime scene 2,000 miles away in Des Moines, Iowa. It turns out that some DNA that was left at the crime scene matched a sample from a publicly accessible scientific database that contained DNA from one of your brothers. Imagine that at the time you first donated your sample for genetic research, it was explained as part of the consent process that no information about your genetics would be returned to you. Years later, you develop a heritable form of cancer and learn that the research team must have known you were genetically predisposed to the disease. To complicate matters further, you have a large number of siblings, none of whom want to know about their genetic predispositions. This information is now available to all. Imagine you just opened your own electronics recycling business and are trying to find private health insurance. Your friend recommends that you contact a specific company. As part of the enrollment process, the company finds out that you participated in a genetic study and that your genetic information has been released into a publicly accessible database. By accessing the database, the company finds out that you are at increased risk of early-onset Alzheimer disease and are highly susceptible to cancer from the chemicals encountered in your recycling process. They also find that you are at greatly increased risk of colon cancer, which alerts you to now take early screening and preventive measures. This is, no doubt, an exciting time for genetic research. And it cannot move forward without research participants. As such, it is important to note that the risks associated with this kind of research may be limited and controversial events rare. But history has told us that they do occur and can have a devastating impact on public trust and the research environment. It is therefore critical that as this research moves forward, there are guidelines in place, such as those outlined by this paper, to promote ethical research conduct and to help avoid, as much as possible, scenarios like those described above.
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research ethics and the challenge of whole genome sequencing
Nature Reviews Genetics, 2008Co-Authors: Amy L Mcguire, Timothy Caulfield, Mildred K ChoAbstract:The recent completion of the first two individual whole-genome sequences is a research milestone. As Personal genome research advances, investigators and international research bodies must ensure ethical research conduct. We identify three major ethical considerations that have been implicated in whole-genome research: the return of research results to participants; the obligations, if any, that are owed to participants' relatives; and the future use of samples and data taken for whole-genome sequencing. Although the issues are not new, we discuss their implications for Personal Genomics and provide recommendations for appropriate management in the context of research involving individual whole-genome sequencing.
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research ethics and the challenge of whole genome sequencing
Nature Reviews Genetics, 2008Co-Authors: Amy L Mcguire, Timothy Caulfield, Mildred K ChoAbstract:As Personal genome research advances, investigators and international research bodies must ensure ethical research conduct. The authors discuss three major ethical implications of Personal Genomics that relate to the participants, their next-of-kin and the data.