This Week in CGREAL

a newsletter of the Center for Genetic Research Ethics & Law in the Department of Bioethics, Case Western Reserve University

August 3 , 2009 

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Genetics in the News

AAHRPP -Proposed Revised Accreditation Standards "As part of its mission to continuously improve those Standards, AAHRPP pledged to review the Standards by 2010. Given the evolution of research, changes in the regulatory environment, and the expansion of research involving populations worldwide, AAHRPP began a review process in late 2008. ..."

Genetic testing may be valuable in treating colorectal cancer "Cost effectiveness study looks at potential value of new genetic test for guiding chemotherapy treatment ..."

Navigenics Announces Clinical Partnership with Toronto’s Medcan Clinic "Genetic testing provider Navigenics has announced a partnership with the Medcan Clinic, a preventive healthcare clinic located in Toronto, Canada. ..."

Preimplantation genetic diagnosis may pose neurological risks "They found that there were no differences in embryo development prior to uterine implantation in the biopsied and control groups, which is consistent with results found in humans. However, following implantation, successful births from biopsied embryos were significantly lower than in controls. ..."

Q&A: CDC's Khoury Discusses GAPPNet's Strategy to Drive Adoption of Personalized Medicine "GAPPNet, or the Genomic Applications in Practice and Prevention Network, is a collaborative effort recently launched by the Centers for Disease Control and Prevention and the National Cancer Institute to drive the adoption of validated and clinically useful genomic technologies. ..."

Pathway Genomics launched "Twenty months after the debut of consumer genomics pioneers 23andMe and deCODEme, San Diego-based Pathway Genomics has launched its own comprehensive direct-to-consumer genotyping service. ..."

Lazy gene favours adventurous choices - New Scientist "At a restaurant, do you order the dish you know you love or try a new one, in case you like it better? The level of the reward chemical dopamine you have in a brain region may determine your reply. The COMT gene codes for an enzyme that breaks down dopamine in the prefrontal cortex. ..."

One gene will not reveal all life's secrets - Telegraph "DNA research is costly, and not necessarily effective ..."

Genetic tests advertised directly to the consumer "Genetic testing services have recently begun to be advertised directly to the patient, and the results of the consumers' response can affect public health, as well as the future adoption of pharmacogenetic/genomic testing, according to a position paper from the American College of Clinical Pharmacology ..."

Technology Review: The Business of Personal Genomes "The cofounder of the genomics startup Knome speaks on the complexities of personal genomics. ..."

CGS : Blood Samples Raise Questions of Privacy "Some Samples Are Stored and Used For Research Without Parents' Consent ..."

Genetic research has led to an 'extraordinary flowering of knowledge', claims criticised charity - Telegraph "Genetic analysis is leading to an 'extraordinary flowering of knowledge', claims an internationally renowned science charity, as it countered accusations of funding costly and misguided research. ..."

House of Lords, Genomic Medicine "In our inquiry, we have investigated these many aspects of genomic medicine, and make recommendations to ensure that the challenges afforded by advances in genomic science are met and the opportunities exploited. ..."

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Genetics in the Literature

Al-Ubaydli, M. and R. Navarro (2009). "Genomic electronic health records: opportunities and challenges." Genome Med. 1(7): 73.

"ABSTRACT : There is value to patients, clinicians and researchers from having a single electronic health record data standard that allows an integrated view, including genotype and phenotype data. However, it is important that this integrated view of the data is not created through a single database because privacy breaches increase with the number of users, and such breaches are more likely with a single data warehouse. Furthermore, a single user interface should be avoided because each end user requires a different user interface. Finally, data sharing must be controlled by the patient, not the other end users of the data. A preferable alternative is a federated architecture, which allows data to be stored in multiple institutions and shared on a need-to-know basis. The data sharing raises questions of ownership and stewardship that require social and political answers, as well as consideration of the clinical and scientific benefits. ..."

Ann, F. C., I. N. Ann, et al. (2009). "Quality assurance in medical and public health genetics services: A systematic review." American Journal of Medical Genetics Part C: Seminars in Medical Genetics 151C(3): 214-234.

"We surveyed the English language, peer-reviewed literature to summarize the knowledge-base of quality assessment of genetics services. Our review underscored the urgent need for a coherent model that will provide health care organizations with tools to assess, report, monitor, and improve quality. The structure, process, and outcomes domains that make up the quality framework provide a comprehensive lens through which to examine quality in medical genetics. ..."

Bombard, Y., G. Veenstra, et al. (2009). "Perceptions of genetic discrimination among people at risk for Huntington's disease: a cross sectional survey." Bmj. 338:b2175.(doi): 10.1136/bmj.b2175.

"OBJECTIVE: To assess the nature and prevalence of genetic discrimination experienced by people at risk for Huntington's disease who had undergone genetic testing or remained untested. Self reported experiences of genetic discrimination and related psychological distress based on family history or genetic test results. RESULTS: Discrimination was reported by 93 respondents (39.9%). Reported experiences occurred most often in insurance (29.2%), family (15.5%), and social (12.4%) settings. There were few reports of discrimination in employment (6.9%), health care (8.6%), or public sector settings (3.9%). Although respondents who were aware that they carried the Huntington's disease mutation reported the highest levels of discrimination, participation in genetic testing was not associated with increased levels of genetic discrimination. Family history of Huntington's disease, rather than the result of genetic testing, was the main reason given for experiences of genetic discrimination. Psychological distress was associated with genetic discrimination (P<0.001). CONCLUSIONS: Genetic discrimination was commonly reported by people at risk for Huntington's disease and was a source of psychological distress. Family history, and not genetic testing, was the major reason for genetic discrimination. ..."

Cameron, L. D., K. A. Sherman, et al. (2009). "Impact of genetic risk information and type of disease on perceived risk, anticipated affect, and expected consequences of genetic tests." Health Psychology 28(3): 307-316.

"Objective: Genetic tests vary in their prediction of disease occurrence, with some mutations conferring relatively low risk and others indicating near certainty. The authors assessed how increments in absolute risk of disease influence risk perceptions, interest, and expected consequences of genetic tests for diseases of varying severity. Participants completed measures of perceived likelihood of disease for individuals with mutations, risk-related affect, interest, and testing consequences. Results: Analyses revealed two increment clusters yielding differences in likelihood perceptions: A ?moderate-risk? cluster (20%?70%), and a ?high-risk? cluster (80%?100%). Risk increment influenced anticipated worry, feelings of risk, testing-induced distress, and family obligations, with nonlinear patterns including disproportionately high responses for the 50% increment. Risk increment did not alter testing interest or perceived benefits. These patterns of effects held across the four diseases. Conclusion: Magnitude of risk from genetic testing has a nonlinear influence on risk-related appraisals and affect but is unrelated to test interest. ..."

Capron, A. M., A. Mauron, et al. (2009). "Ethical norms and the international governance of genetic databases and biobanks: findings from an international study." Kennedy Inst Ethics J. 19(2): 101-24.

"This article highlights major results of a study into the ethical norms and rules governing biobanks. After describing the methodology, the findings regarding four topics are presented: (1) the ownership of human biological samples held in biobanks; (2) the regulation of researchers' use of samples obtained from biobanks; (3) what constitutes "collective consent" to genetic research, and when it is needed; and (4) benefit sharing and remuneration of research participants. The paper then summarizes key lessons to be drawn from the findings and concludes by reflecting on the importance of such empirical research to inform future governance norms and practices. ..."

Dean, C. E. (2009). "Personalized Medicine: Boon or Budget-Buster?" Ann Pharmacother 43(5): 958-962.

"While the development of personalized or molecular medicine is a laudable goal, there remain multiple barriers to its implementation. For example, little is known about the functions of noncoding regions of DNA, as well as the interplay of drug response, environmental factors, and the patient's genetic profile. In addition, there is a constant influx of new information on genetic factors such as epigenetic variation that could further complicate the development of medications based on the genetic profile, as well as the cost of profiling. However, assuming that clinically relevant genetic factors will be discovered and that drugs can be developed based on the molecular changes induced by those genetic factors, I suggest that the costs involved may substantially exceed the savings brought about by abandoning our current "one drug fits all" approach. While there is no doubt that our current approach is inefficient and expensive, remarkably little attention has been paid to the potential costs of molecular medicine. Given the current economic crisis, the time is ripe for a debate on this issue. ..."

 

Dorado, P., R. Pacheco, et al. (2009). "Relation between CYP2D6 genotype, personality, neurocognition and overall psychopathology in healthy volunteers." Pharmacogenomics 10(7): 1111-1120.

 

Gilbar, R. "Genetic testing of children for familial cancers: a comparative legal perspective on consent, communication of information and confidentiality." Familial Cancer.

"Genetic testing of children is the subject of ethical and legal debate. On the one hand, the literature emphasises the personal interests and rights of the individual child. On the other, the interests of the parents and the family as a whole are discussed. English law relies by and large on a patient-centred approach where the child has some say about his/her medical care. The view reflected in Anglo-American guidelines, more specifically, is that testing is potentially harmful and may compromise the child’s autonomy and confidentiality. This explains the reluctance to submit children to predictive genetic testing. An analysis of Israeli law, however, reflects a different approach, where the benefit to the child is defined more widely. This accords with the general communitarian position adopted by Israeli law, a legal position that reflects the duality of Israeli society in simultaneously promoting both fundamental human rights and family ethics. In practice, however, there may be little difference, as children in both jurisdictions have access to similar genetic services. ..."

Hens, K., H. Nys, et al. "Biological sample collections from minors for genetic research: a systematic review of guidelines and position papers." Eur J Hum Genet 17(8): 979-990.

Hohmann, E. L. (2009). "Gene Therapy -- Still a Work in Clinical and Regulatory Progress." N Engl J Med 361(2): 193-195.

Jorgensen, J. T. (2009). "New era of personalized medicine: a 10-year anniversary." Oncologist. 14(5): 557-8.

 

Kerry, S., S. Jacquie, et al. (2009). "Outcomes of genetics services: Creating an inclusive definition and outcomes menu for public health and clinical genetics services." American Journal of Medical Genetics Part C: Seminars in Medical Genetics 151C(3): 207-213.

"Third party payers, funding agencies, and lawmakers often require clinicians and public health agencies to justify programs and services by documenting results. This article describes two assessment tools created to assist public health professionals, clinicians, family advocates, and researchers to plan, evaluate, and demonstrate the effectiveness of genetics services. T ..."

 

Kobayashi, E. and N. Satoh "Public involvement in pharmacogenomics research: a national survey on public attitudes towards pharmacogenomics research and the willingness to donate DNA samples to a DNA bank in Japan." Cell and Tissue Banking.

"To assess the attitudes of the Japanese general public towards pharmacogenomics research and a DNA bank for identifying genomic markers associated with ADRs and their willingness to donate DNA samples, we conducted a national survey for 1,103 Japanese adults from the general public, not a patient population. The majority of the respondents showed a positive attitude towards pharmacogenomics research (81.0%) and a DNA bank (70.4%). Considering fictitious clinical situations such as taking medications and experiencing ADRs, the willingness to donate DNA samples when experiencing ADRs (61.7%) was higher than when taking medications (45.3%). Older generations were significantly associated with a decreased willingness to donate (OR&nbsp;=&nbsp;0.45, CI 0.28–0.72 in 50s. OR&nbsp;=&nbsp;0.49, CI: 0.31–0.77 in 60s). Positive attitudes towards pharmacogenomics research, a DNA bank, blood/bone marrow/organ donation were significantly associated with an increased willingness. However, the respondents had the following concerns regarding a DNA bank: the confidentiality of their personal information, the manner by which research results were utilized and simply the use of their own DNA for research. In order to attain public understanding to overcome these concerns, a process of public awareness should be put into place to emphasize the beneficial aspects of identifying genomic markers associated with ADRs and to address these concerns raised in our study. Further study is needed to assess the willingness of actual patients taking medications in real situations, since the respondents in our study were from the general public, not a patient population, and their willingness was assessed on the condition of assuming that they were patients taking medications. ..."

Mandrekar, S. J. and D. J. Sargent (2009). "Genomic advances and their impact on clinical trial design." Genome Med. 1(7): 69.

"Medical treatment for patients has historically been based on two primary elements: the expected outcome for the patient, and the ability of treatment to improve the expected outcome. The advance in genomic technologies has the potential to change this paradigm and add substantial value to current medical practice by providing an integrated approach to guide patient-specific treatment selection using the genetic make-up of the disease and the genotype of the patient. Specifically, genomic signatures can aid in patient stratification (risk assessment), treatment response identification (surrogate markers), and/or in differential diagnosis (identifying who is likely to respond to which drug(s)). Several critical issues, including scientific rationale, clinical trial design, marker assessment methods, cost and feasibility have to be carefully considered in the validation of biomarkers through clinical research before they can be routinely integrated into clinical practice. Here, we highlight the impact of genomic advances on various aspects of clinical trial design. ..."

Murphy, E. J., P. Wickramaratne, et al. (2009). "Racial and ethnic differences in willingness to participate in psychiatric genetic research." Psychiatric Genetics 19(4): 186-194.

"The National Institute of Mental Health's effort to rectify the underrepresentation of American Blacks in the genetic studies of psychiatric disorders has met with mixed success. This study was designed to understand some of the barriers to recruitment., Methods: Men and women, who were of Black, White or Hispanic race/ethnicity, aged 18-79 years (N = 353), were recruited from clinical and community settings in New York City. Participants responded to a survey that was designed to measure willingness to participate and attitudes toward genetic research. Principal components analyses generated eight factors including perceived benefits, concerns about, and drawbacks of genetic research, and beliefs about genetic or environmental contributions to psychopathology. Analysis of variance assessed within-ethnic group differences on factor scores, as they related to willingness to participate in genetic research., Results: Ethnic groups did not differ significantly in stated willingness to participate in genetic research; more than 70% in each group were willing to participate. Among Blacks and Hispanics, mistrust and wariness, and stigma were significantly increased in those unwilling to participate; for Whites, perceived benefit to society and perceived importance for knowledge/education were associated with willingness to participate. For Blacks and Hispanics, youth (aged 18-29 years) and college education reduced, but did not eliminate the association between wariness and mistrust and willingness to participate., Conclusion: Findings suggest that recruitment efforts aimed at increasing the representation of Blacks should be aware of the barriers among those who are less educated, and involve interactive community collaborations, to fully address the mistrust in this population. ..."

 

Ormond, K. E., S. Banuvar, et al. (2009). "Information preferences of high literacy pregnant women regarding informed consent models for genetic carrier screening." Patient Education and Counseling 75(2): 244-250.

"Objective With the increasing carrier screening options being offered to pregnant women, it is critical to consider what information women want in an informed consent process, and how they make decisions regarding screening.Methods We surveyed 201 pregnant women.Results Subjects prefer "to have as much information as possible" (84%), and valued their physician's recommendations (82%) regarding screening. After reviewing two hypothetical scenarios, 71% of participants preferred more information about genetic carrier screening; however, some participants expressed concern that too much information can also lead to anxiety. When specifically asked about components of a potential informed consent process, the highest preferences were to include: the chance of having a child with the disorder (97%), the options for carriers (93%), the value and purpose of testing (91%), and the prognosis if a child has the disease (94%); preference for "symptoms" information differed based on scenario preference (p < 0.001).Conclusion This study is the first to document variation in patients' views regarding the information desired as part of the informed consent process.Practice implications Providers should consider ways to ascertain their patients' preferred informational style, and how to provide information in the amount and style that patients find useful in making decisions. ..."

 

Pennisi, E. (2009). "Sequencing Neandertal Mitochondrial Genomes by the Half-Dozen." Science 325(5938): 252-.

 

Plass, A. M., M. J. Baars, et al. (2009). "Testing the children: do non-genetic health-care providers differ in their decision to advise genetic presymptomatic testing on minors? A cross-sectional study in five countries in the European Union." Genet Test Mol Biomarkers. 13(3): 367-76.

"This study, which is part of the larger 5th EU-framework "genetic education" (GenEd) study, aimed to evaluate the self-reported responses of nongenetic health-care providers in five different EU countries (Germany, France, Sweden, the United Kingdom, and the Netherlands) when confronted with a parent requesting presymptomatic testing on a minor child for a treatable disease. METHODS: A cross-sectional study design using postal, structured scenario-based questionnaires that were sent to 8129 general practitioners (GPs) and pediatricians, between July 2004 and October 2004, addressing self-reported management of a genetic case for which early medical intervention during childhood is beneficial, involving a minor. RESULTS: Most practitioners agreed on testing the oldest child, aged 12 years (81.5% for GPs and 87.2% for pediatricians), and not testing the youngest child, aged 6 months (72.6% for GPs and 61.3% for pediatricians). After multivariate adjustment there were statistical differences between countries in recommending a genetic test for the child at the age of 8 years. Pediatricians in France (50%) and Germany (58%) would recommend a test, whereas in the United Kingdom (22%), Sweden (30%), and the Netherlands (32%) they would not. CONCLUSION: Even though presymptomatic genetic testing in minors is recommended for disorders for which medical intervention exists, EU physicians are uncertain at what age starting to do so in young children. ..."

Rao, M. and M. L. Condic (2009). "Musings on genome medicine: is there hope for ethical and safe stem cell therapeutics?" Genome Med. 1(7): 70.

"ABSTRACT : Although most stem cell therapy has been non-controversial, therapy based on pluripotent stem cells has raised both ethical and safety concerns. Despite these concerns, the use of cells derived from pluripotent stem cells has recently been approved for clinical trials. We suggest that recent advances in the field have provided avenues to develop pluripotent cells that raise far fewer ethical concerns. Moreover, advances in cell sorting, gene modification and screening have allowed the development of safer therapeutic approaches. Continued advances in this rapidly evolving field are likely to allow therapy to be delivered in a safe and effective manner without socially divisive ethical controversy in the not-so-distant future. ..."

Ricci, M. L. (2009). "Assisted procreation and its relationship to genetics and eugenics." Hum Reprod Genet Ethics. 15(1): 7-27.

"The article below is intended to reflect on whether or not a eugenic tendency constitutes an intrinsic element of human fertilization in vitro. The author outlines ideas and circumstances which characterized the foundation and propagation of eugenics between the eighteenth and nineteenth centuries. A brief discussion follows on some of the standard procedures of in vitro fertilization, and in particular, those which manifest a trace or hint of eugenics--heterologous fertilization and sperm banking, preimplantation genetic diagnosis (PGD) and embryo selection--practices which, nonetheless, are used on a large scale and shed light on both the essence of procreative medicine and on the current cultural environment. The objective of the article is to explore whether it is possible to eliminate the eugenic connotations without foregoing the benefits of technical and scientific progress. ..."

 

Silversides, A. (2009). "Canada's genetic heterogeneity an asset in cord blood banking." CMAJ 180(13): E117-.

 

 

Slade, C., B. Bozeman, et al. (2009). "Understanding Bureaucracy in Health Science Ethics: Toward a Better Institutional Review Board." Am J Public Health: AJPH.2008.152389.

"Research involving human participants continues to grow dramatically, fueled by advances in medical technology, globalization of research, and financial and professional incentives. This creates increasing opportunities for ethical errors with devastating effects. The typical professional and policy response to calamities involving human participants in research is to layer on more ethical guidelines or strictures.We used a recent case--the Johns Hopkins University/ Kennedy Kreiger Institute Lead Paint Study--to examine lessons learned since the Tuskegee Syphilis Study about the role of institutionalized science ethics in the protection of human participants in research. We address the role of the institutional review board as the focal point for policy attention. ..."

 

St-Louis, M. (2009). "Potential of genotyping to personalize transfusion medicine." Personalized Medicine 6(4): 363-365.

Swauger, M. (2009). "NO KIDS ALLOWED !!!: HOW IRB ETHICS UNDERMINE QUALITATIVE RESEARCHERS FROM ACHIEVING SOCIALLY RESPONSIBLE ETHICAL STANDARDS." Race, Gender & Class 16(1/2): 63-81.

"Institutional Review Boards (IRBs) undermine qualitative researchers from achieving ethical standards that are promoted by youth, feminist, critical race, queer, and cultural studies. While conducting my dissertation research, I learned that although IRBs seek ethical research approaches, their restrictive requirements limit studies on youth in ways that exclude or silence them, and further marginalize disadvantaged people whom qualitative researchers want to make visible. IRB policies and procedures inadvertently block the voices of youth, homogenize youth subjects, prioritize the consent of adult gatekeepers while limiting the consent of youth, and control the dissemination of research, all in the name of protection of vulnerable subjects. Current IRB policies may steer researchers away from qualitative inquiry, especially with young people. ..."

Tekola, F., S. J. Bull, et al. (2009). "Tailoring consent to context: designing an appropriate consent process for a biomedical study in a low income setting." PLoS Negl Trop Dis. 3(7): e482.

"We explored factors relating to information and communication during the process of informed consent, and the approach that should be followed for gaining consent. The study was conducted prior to a family-based genetic study among people with podoconiosis (non-filarial elephantiasis) in southern Ethiopia. We found that the extent of use of everyday language, the degree to which expectations of potential participants were addressed, and the techniques of presentation of information had considerable impact on comprehension of information provided about research. Approaching podoconiosis patients via locally trusted individuals and preceding individual consent with community sensitization were considered the optimal means of communication. Prevailing poverty among podoconiosis patients, the absence of alternative treatment facilities, and participants' trust in the local NGO were identified as potential barriers for obtaining genuine informed consent. CONCLUSIONS: Researchers should evaluate the effectiveness of consent processes in providing appropriate information in a comprehensible manner and in supporting voluntary decision-making on a study-by-study basis. ..."

 

Zineh, I. and L. J. Lesko (2009). "Pharmacogenetics in medicine: barriers, critical factors and a framework for dialogue." Personalized Medicine 6(4): 359-361.

Zwart, H. (2009). "Genomics and identity: the bioinformatisation of human life." Med Health Care Philos. 12(2): 125-36. Epub 2009 Feb 26.

"The genomics "revolution" is spreading. Originating in the molecular life sciences, it initially affected a number of biomedical research fields such as cancer genomics and clinical genetics. Now, however, a new "wave" of genomic bioinformation is transforming a widening array of disciplines, including those that address the social, historical and cultural dimensions of human life. Increasingly, bioinformation is affecting "human sciences" such as psychiatry, psychology, brain research, behavioural research ("behavioural genomics"), but also anthropology and archaeology ("bioarchaeology"). Thus, bioinformatics is having an impact on how we define and understand ourselves, how identities are formed and constituted, and, finally, on how we (on the basis of these redefined identities) assess and address some of the more concrete societal issues involved in genomics governance in various settings. This article explores how genomics and bioinformation, by influencing research agendas in the human sciences and the humanities, are affecting our self-image, our identity, the way we see ourselves. The impact of bioinformation on self-understanding will be assessed on three levels: (1) the collective level (the impact of comparative genomics on our understanding of human beings as a species), (2) the individual level (the impact of behavioural genomics on our understanding of ourselves as individuals), and (3) the genealogical level (the impact of population genomics on our understanding of human history, notably early human history). This threefold impact will be assessed from two seemingly incompatible philosophical perspectives, namely a "humanistic" perspective (represented in this article by Francis Fukuyama) and a "post-humanistic" one (represented by Peter Sloterdijk). On the basis of this analysis it will be concluded that, rather than focussing on human "enhancement" by adding or deleting genes, genome-oriented practices of the Self will focus on using genomics information in the context of identity-formation. Genomic bioinformation will increasingly be built into our self-images and used in order to tailor and adapt our practices of Self to our "personalised" genome. We will keep working on ourselves, no doubt, not by modifying our genomes, but rather by fine-tuning our behaviour. What we are experiencing is a bioinformatisation of the life-world. Genomics-based technologies will increasingly pervade our daily lives, our autobiographies and narratives, as well as our anthropologies, rather than our genomes as such. ..."

 

 

 

 

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