CiteULike: jasonbobe's library http://www.citeulike.org/user/jasonbobe CiteULike.org en-gb Copyright © 2004-2011 citeulike.org http://www.citeulike.org/user/jasonbobe/article/3458824 <i>Nature</i> Celebrity genomes alarm researchers : Article : Nature Nature 2008-10-29T00:26:08-00:00 Nature no-tag http://www.citeulike.org/user/jasonbobe/article/3441206 <i>Medicine and law, Vol. 27, No. 2. (June 2008), pp. 365-399</i><br /><br />I discuss the significance of respect for personal autonomy in bioethics with reference to its practical expression: rational informed patient choice. The question is whether, given the apparent practical limitations to this notion, bioethical autonomy should be seen as an absolute. After a historical review of informed consent and its development, I discuss the requirements for informed consent. Some inherent tensions are evaluated, as is the applicability of the notion that in order to be legitimate, autonomy should do some ethical work. Limits to the notion of informed consent are explored with reference to six examples: the right of women to reproductive autonomy; the autonomy of legally minor Jehovah's Witnesses; autonomy in cosmetic surgery; inappropriate treatment; autonomy and human medical research, and euthanasia and other end-of-life options. The discussion is within a South African framework with reference to other jurisdictions and decisions where appropriate. I conclude that whilst some unusual instances of limitation of bioethical informed consent might be ethically justifiable, the arguments presented point to the opposite: the unfounded limitation of informed consent.<br /><i>M de Roubaix</i> Are there limits to respect for autonomy in bioethics? M de Roubaix Medicine and law, Vol. 27, No. 2. (June 2008), pp. 365-399 2008-10-22T19:52:46-00:00 2008 Medicine and law 0723-1393 27 2 365 399 autonomy elsi ethics http://www.citeulike.org/user/jasonbobe/article/2620629 <i>J Med Ethics, Vol. 34, No. 4. (July 2008), pp. 275-278, doi:10.1136/jme.2006.019802</i><br /><br />One of the central arguments given to resist testing currently healthy, asymptomatic children for adult-onset diseases is that they may be psychologically harmed by the knowledge gained from such tests. In this discussion I examine two of the most serious arguments: children who are tested may face limited futures, and that testing may result in damage to the child's self esteem (where the test result returns a positive diagnosis). I claim that these arguments do not stand up to critical evaluation. In conclusion, whilst I do not suggest that all at-risk children should be tested for adult-onset diseases we ought to listen carefully to some parental requests for such testing because the putative psychological harms may not be as significant or likely as initially thought. This is because parents generally have the best interests of their children at heart and if they are properly supported and educated about predictive genetic testing and the possible consequences, then the risk of psychological harms occurring may be ameliorated.<br /><i>PJ Malpas</i> Predictive genetic testing of children for adult-onset diseases and psychological harm. PJ Malpas doi:10.1136/jme.2006.019802 J Med Ethics, Vol. 34, No. 4. (July 2008), pp. 275-278, doi:10.1136/jme.2006.019802 2008-10-22T19:52:19-00:00 2008 J Med Ethics 1473-4257 34 4 275 278 predictive predisposition risk http://www.citeulike.org/user/jasonbobe/article/3441202 <i>Human molecular genetics, Vol. 17, No. R2. (15 October 2008)</i><br /><br />The past year has been marked by the emergence of several companies, such as 23andMe, deCODEME, Navigenics and Knome, offering tests using genome-wide technology direct to consumers over the internet. On the basis of the published research findings of GWAS and other studies, these companies will calculate an individual's risk to a number of common diseases, without the necessity of going through a medical practitioner. One of the significant challenges of direct-to-consumer testing is that it shifts the control of genetic testing from the clinical domain and medical professionals into the hands of consumers. No longer is genetic testing being carried out solely for medical reasons, by specialists in clinical genetics. Testing is now being used to empower consumers and can be used 'to shed new light on your distant ancestors, your close family and most of all, yourself' (23andMe). Such information can be shared with family and friends for 'fun', as part of the new 'recreational genomics'. Direct-to-consumer testing challenges many of the assumptions that underpin current practice surrounding genetic tests while at the same time exposing the deficiencies in the current regulatory frameworks to regulate this area. The purpose of this paper is to explore some of these issues, at a time when the science and the law are changing rapidly.<br /><i>J Kaye</i> The regulation of direct-to-consumer genetic tests. J Kaye Human molecular genetics, Vol. 17, No. R2. (15 October 2008) 2008-10-22T19:51:45-00:00 2008 Human molecular genetics 1460-2083 17 R2 dtc http://www.citeulike.org/user/jasonbobe/article/3441201 <i>Ethics &amp;#38; medicine : a Christian perspective on issues in bioethics, Vol. 22, No. 2. (2006), pp. 83-91</i><br /><br />The development of genetic tests marketed and sold direct-to-consumers (DTC) via the internet raises moral concerns and debate about their appropriateness and ethical and clinical significance. These tests are offered for a wide range of diseases and conditions, and the mutations have variable penetrance and associated risk. A number of these tests lack data on their accuracy and reliability, making interpretation of results difficult. DTC genetic testing is undertaken outside the context of the physician-patient relationship and may lack appropriate individual and family genetic counseling, leaving the consumer vulnerable to potential harms, such as misinterpretation of results, including false positive or false reassurance, with limited or no benefits. Beauchamp and Childress's four principles of biomedical ethics provide a framework for analyzing the ethical issues raised by DTC genetic testing. We argue that the potential harms outweigh the potential benefits of such tests, that respect for autonomy should be limited in light of potential harm from DTC testing, and that the availability of genetic testing over the internet may be considered unfair and unjust and affect resource allocation by placing an unfair burden on primary care physicians. In light of the moral issues posed by these tests, practical responses are suggested in the areas of consumer education, medical education, and interaction with commercial companies.<br /><i>K Wasson, ED Cook, K Helzlsouer</i> Direct-to-consumer online genetic testing and the four principles: an analysis of the ethical issues. K Wasson ED Cook K Helzlsouer Ethics &#38; medicine : a Christian perspective on issues in bioethics, Vol. 22, No. 2. (2006), pp. 83-91 2008-10-22T19:51:31-00:00 2006 Ethics & medicine : a Christian perspective on issues in bioethics 0266-688X 22 2 83 91 dtc http://www.citeulike.org/user/jasonbobe/article/3249775 <i>EMBO Reports (October 2008)</i><br /><i>Rebecca Carver, Ragnar Waldahl, Jarle Breivik</i> Frame that gene. A tool for analysing and classifying the communication of genetics to the public Rebecca Carver Ragnar Waldahl Jarle Breivik EMBO Reports (October 2008) 2008-09-12T16:46:34-00:00 2008 EMBO Reports communication education public-understanding http://www.citeulike.org/user/jasonbobe/article/3246825 <i>Journal of epidemiology / Japan Epidemiological Association (8 September 2008)</i><br /><br />Background: Although genetic epidemiologic research has added an element of individualization to epidemiologic research, there is neither agreement nor much discussion on whether donors of genetic samples should be offered an opportunity to receive individualized results regarding their genetic susceptibility to disease. Little is known regarding donors' preferences for future disclosure of individual results. The purpose of this study is to investigate the actual preferences of such donors with regard to receiving individual results, to explore the factors related to their decision, and then to discuss ethical issues regarding the disclosure of results.Methods: Participants (n = 1857) of an ongoing Japanese population-based genetic cohort study in Takashima, Shiga, in 2003, were asked at entry about their preferences with regard being recontacted by researchers in the future and whether they wanted to receive reports on their individual genetic results if genetic problems relevant to their health are discovered for which efficacious interventions might be available.Results: Most of the donors wished to be recontacted and receive reports, but some did not want any reports. Those who were younger, former/current drinkers, or had at least 1 parent who had had cancer were more likely to want the results, while those who had at least 1 sibling with a medical history of cancer were less likely to want the results.Conclusion: We observed a high level of positive preference for future disclosure of individual genetic results, which is in line with the professional views on the ethics of this issue. A well-considered procedure for ascertaining donors' preferences for receiving the results of the research is required from an ethical perspective.<br /><i>Kenji Matsui, Reidar Lie, Yoshikuni Kita, Hirotsugu Ueshima</i> Ethics of Future Disclosure of Individual Risk Information in a Genetic Cohort Study: A Survey of Donor Preferences. Kenji Matsui Reidar Lie Yoshikuni Kita Hirotsugu Ueshima Journal of epidemiology / Japan Epidemiological Association (8 September 2008) 2008-09-12T16:39:49-00:00 2008 Journal of epidemiology / Japan Epidemiological Association 1349-9092 disclosure survey http://www.citeulike.org/user/jasonbobe/article/3173638 <i>PLoS Genet, Vol. 4, No. 8. (29 August 2008), e1000167, doi:10.1371/journal.pgen.1000167</i><br /><br />We use high-density single nucleotide polymorphism (SNP) genotyping microarrays to demonstrate the ability to accurately and robustly determine whether individuals are in a complex genomic DNA mixture. We first develop a theoretical framework for detecting an individual's presence within a mixture, then show, through simulations, the limits associated with our method, and finally demonstrate experimentally the identification of the presence of genomic DNA of specific individuals within a series of highly complex genomic mixtures, including mixtures where an individual contributes less than 0.1% of the total genomic DNA. These findings shift the perceived utility of SNPs for identifying individual trace contributors within a forensics mixture, and suggest future research efforts into assessing the viability of previously sub-optimal DNA sources due to sample contamination. These findings also suggest that composite statistics across cohorts, such as allele frequency or genotype counts, do not mask identity within genome-wide association studies. The implications of these findings are discussed. In this report we describe a framework for accurately and robustly resolving whether individuals are in a complex genomic DNA mixture using high-density single nucleotide polymorphism (SNP) genotyping microarrays. We develop a theoretical framework for detecting an individual's presence within a mixture, show its limits through simulation, and finally demonstrate experimentally the identification of the presence of genomic DNA of individuals within a series of highly complex genomic mixtures. Our approaches demonstrate straightforward identification of trace amounts (&#60;1%) of DNA from an individual contributor within a complex mixture. We show how probe-intensity analysis of high-density SNP data can be used, even given the experimental noise of a microarray. We discuss the implications of these findings in two fields: forensics and genome-wide association (GWA) genetic studies. Within forensics, resolving whether an individual is contributing trace amounts of genomic DNA to a complex mixture is a tremendous challenge. Within GWA studies, there is a considerable push to make experimental data publicly available so that the data can be combined with other studies. Our findings show that such an approach does not completely conceal identity, since it is straightforward to assess the probability that a person or relative participated in a GWA study.<br /><i>Nils Homer, Szabolcs Szelinger, Margot Redman, David Duggan, Waibhav Tembe, Jill Muehling, John Pearson, Dietrich Stephan, Stanley Nelson, David Craig</i> Resolving Individuals Contributing Trace Amounts of DNA to Highly Complex Mixtures Using High-Density SNP Genotyping Microarrays Nils Homer Szabolcs Szelinger Margot Redman David Duggan Waibhav Tembe Jill Muehling John Pearson Dietrich Stephan Stanley Nelson David Craig doi:10.1371/journal.pgen.1000167 PLoS Genet, Vol. 4, No. 8. (29 August 2008), e1000167, doi:10.1371/journal.pgen.1000167 2008-09-02T15:14:20-00:00 2008 PLoS Genet 1553-7404 4 8 e1000167 Public Library of Science confidentiality identifiability identification privacy reidentification http://www.citeulike.org/user/jasonbobe/article/3138092 <i>The Journal of molecular diagnostics : JMD (31 July 2008), doi:10.2353/jmoldx.2008.080050</i><br /><br />Previous studies have suggested that patient care may be compromised as a consequence of poor communication between clinicians and laboratory professionals in cases in which molecular genetic test results are reported. To understand better the contributing factors to such compromised care, we investigated both pre- and postanalytical processes using cystic fibrosis mutation analysis as our model. We found that although the majority of test requisition forms requested patient/family information that was necessary for the proper interpretation of test results, in many cases, these data were not provided by the individuals filling out the forms. We found instances in which result reports for simulated diagnostic testing described individuals as carriers where only a single mutation was found with no comment pertaining to a diagnosis of cystic fibrosis. Similarly, reports based on simulated scenarios for carrier testing were problematic when no mutations were identified, and the patient's race/ethnicity and family history were not discussed in reference to residual risk of disease. Remarkably, a pilot survey of obstetrician-gynecologists revealed that office staff, including secretaries, often helped order genetic tests and reported test results to patients, raising questions about what efforts are undertaken to ensure personnel competency. These findings are reviewed in light of what efforts should be taken to improve the quality of test-ordering and result-reporting practices.<br /><i>Ira M Lubin, Michele Caggana, Carolyn Constantin, Susan J Gross, Elaine Lyon, Roberta A Pagon, Tracy L Trotter, Jean Amos Wilson, Margaret M McGovern</i> Ordering Molecular Genetic Tests and Reporting Results. Practices in Laboratory and Clinical Settings. Ira M Lubin Michele Caggana Carolyn Constantin Susan J Gross Elaine Lyon Roberta A Pagon Tracy L Trotter Jean Amos Wilson Margaret M McGovern doi:10.2353/jmoldx.2008.080050 The Journal of molecular diagnostics : JMD (31 July 2008), doi:10.2353/jmoldx.2008.080050 2008-08-19T21:36:08-00:00 2008 The Journal of molecular diagnostics : JMD 1525-1578 clinical-practice genetic-testing physicians survey http://www.citeulike.org/user/jasonbobe/article/3138090 <i>Clinical pharmacology and therapeutics, Vol. 84, No. 3. (21 September 2008), pp. 362-369, doi:10.1038/clpt.2008.89</i><br /><br />Our objective was to develop a DNA biobank linked to phenotypic data derived from an electronic medical record (EMR) system. An &#34;opt-out&#34; model was implemented after significant review and revision. The plan included (i) development and maintenance of a de-identified mirror image of the EMR, namely, the &#34;synthetic derivative&#34; (SD) and (ii) DNA extracted from discarded blood samples and linked to the SD. Surveys of patients indicated general acceptance of the concept, with only a minority ( approximately 5%) opposing it. As a result, mechanisms to facilitate opt-out included publicity and revision of a standard &#34;consent to treatment&#34; form. Algorithms for sample handling and procedures for de-identification were developed and validated in order to ensure acceptable error rates (&#60;0.3 and &#60;0.1%, respectively). The rate of sample accrual is 700-900 samples/week. The advantages of this approach are the rate of sample acquisition and the diversity of phenotypes based on EMRs.<br /><i>DM Roden, JM Pulley, MA Basford, GR Bernard, EW Clayton, JR Balser, DR Masys</i> Development of a large-scale de-identified DNA biobank to enable personalized medicine. DM Roden JM Pulley MA Basford GR Bernard EW Clayton JR Balser DR Masys doi:10.1038/clpt.2008.89 Clinical pharmacology and therapeutics, Vol. 84, No. 3. (21 September 2008), pp. 362-369, doi:10.1038/clpt.2008.89 2008-08-19T21:34:25-00:00 2008 Clinical pharmacology and therapeutics 1532-6535 84 3 362 369 American Society of Clinical Pharmacology and Therapeutics biobanks personalizedmedicine study-design http://www.citeulike.org/user/jasonbobe/article/3138089 <i>Clin Pharmacol Ther, Vol. 84, No. 3. (2008), pp. 306-309, doi:10.1038/clpt.2008.114</i><br /><i>PC Ng, Q Zhao, S Levy, RL Strausberg, JC Venter</i> Individual Genomes Instead of Race for Personalized Medicine PC Ng Q Zhao S Levy RL Strausberg JC Venter doi:10.1038/clpt.2008.114 Clin Pharmacol Ther, Vol. 84, No. 3. (2008), pp. 306-309, doi:10.1038/clpt.2008.114 2008-08-19T21:33:38-00:00 2008 Clin Pharmacol Ther 84 3 306 309 American Society of Clinical Pharmacology and Therapeutics pgx race http://www.citeulike.org/user/jasonbobe/article/3007361 <i></i> Genetic exceptionalism. Too much of a good thing? 2008-07-16T06:23:16-00:00 privacy http://www.citeulike.org/user/jasonbobe/article/3007026 <i>JAMA, Vol. 300, No. 3. (2008), pp. 326-327</i><br /><i>Ine Van Hoyweghen, Klasien Horstman</i> European Practices of Genetic Information and Insurance. Lessons for the Genetic Information Nondiscrimination Act Ine Van Hoyweghen Klasien Horstman JAMA, Vol. 300, No. 3. (2008), pp. 326-327 2008-07-15T21:14:22-00:00 2008 JAMA 300 3 326 327 discrimination gina policy http://www.citeulike.org/user/jasonbobe/article/3003216 <i>Genome Biology, Vol. 9, No. 7. (15 July 2008), 404, doi:10.1186/gb-2008-9-7-404</i><br /><br />We are a multidisciplinary group of Stanford faculty who propose ten principles to guide the use of racial and ethnic categories when characterizing group differences in research into human genetic variation.<br /><i>Sandra Lee, Joanna Mountain, Barbara Koenig, Russ Altman, Melissa Brown, Albert Camarillo, Luca Cavalli-Sforza, Mildred Cho, Jennifer Eberhardt, Marcus Feldman, Richard Ford, Henry Greely, Roy King, Hazel Markus, Debra Satz, Matthew Snipp, Claude Steele, Peter Underhill</i> The ethics of characterizing difference: guiding principles on using racial categories in human genetics Sandra Lee Joanna Mountain Barbara Koenig Russ Altman Melissa Brown Albert Camarillo Luca Cavalli-Sforza Mildred Cho Jennifer Eberhardt Marcus Feldman Richard Ford Henry Greely Roy King Hazel Markus Debra Satz Matthew Snipp Claude Steele Peter Underhill doi:10.1186/gb-2008-9-7-404 Genome Biology, Vol. 9, No. 7. (15 July 2008), 404, doi:10.1186/gb-2008-9-7-404 2008-07-15T16:40:38-00:00 2008 Genome Biology 1465-6906 9 7 404 ethnicity race http://www.citeulike.org/user/jasonbobe/article/2870514 <i>Science, Vol. 320, No. 5872. (4 April 2008), pp. 53-54, doi:10.1126/science.1156604</i><br /><br />10.1126/science.1156604<br /><i>SH Katsanis, G Javitt, K Hudson</i> PUBLIC HEALTH: A Case Study of Personalized Medicine SH Katsanis G Javitt K Hudson doi:10.1126/science.1156604 Science, Vol. 320, No. 5872. (4 April 2008), pp. 53-54, doi:10.1126/science.1156604 2008-06-06T23:39:48-00:00 2008 Science 320 5872 53 54 personal-genomics personalizedmedicine http://www.citeulike.org/user/jasonbobe/article/2862904 <i>Lancet, Vol. 371 (24 May 2008), pp. 1739-1740</i><br /><i>Priya Shetty</i> Home DNA test kits cause controversy Priya Shetty Lancet, Vol. 371 (24 May 2008), pp. 1739-1740 2008-06-04T22:33:03-00:00 2008 Lancet 371 1739 1740 dtc http://www.citeulike.org/user/jasonbobe/article/2862782 <i>(March 2008)</i> U.S. System of Oversight of Genetic Testing: A Response to the Charge of the Secretary of Health and Human Services (March 2008) 2008-06-04T22:12:52-00:00 2008 dtc elsi genetic-testing regulation http://www.citeulike.org/user/jasonbobe/article/2862774 <i>PLoS Med, Vol. 5, No. 5. (13 May 2008), e91, doi:10.1371/journal.pmed.0050091</i><br /><br />The authors discuss the available data on the effects of communicating aggregate and individual research results on participants, investigators, and the research enterprise.<br /><i>David Shalowitz, Franklin Miller</i> Communicating the Results of Clinical Research to Participants: Attitudes, Practices, and Future Directions David Shalowitz Franklin Miller doi:10.1371/journal.pmed.0050091 PLoS Med, Vol. 5, No. 5. (13 May 2008), e91, doi:10.1371/journal.pmed.0050091 2008-06-04T22:07:24-00:00 2008 PLoS Med 1549-1676 5 5 e91 Public Library of Science disclosure elsi virtuous-circle http://www.citeulike.org/user/jasonbobe/article/2628746 <i>Science (New York, N.Y.), Vol. 320, No. 5872. (4 April 2008), pp. 100-103, doi:10.1126/science.1155157</i><br /><br /> Antibiotics are a crucial line of defense against bacterial infections. Nevertheless, several antibiotics are natural products of microorganisms that have as yet poorly appreciated ecological roles in the wider environment. We isolated hundreds of soil bacteria with the capacity to grow on antibiotics as a sole carbon source. Of 18 antibiotics tested, representing eight major classes of natural and synthetic origin, 13 to 17 supported the growth of clonal bacteria from each of 11 diverse soils. Bacteria subsisting on antibiotics are surprisingly phylogenetically diverse, and many are closely related to human pathogens. Furthermore, each antibiotic-consuming isolate was resistant to multiple antibiotics at clinically relevant concentrations. This phenomenon suggests that this unappreciated reservoir of antibiotic-resistance determinants can contribute to the increasing levels of multiple antibiotic resistance in pathogenic bacteria. <br /><i>Gautam Dantas, Morten Sommer, Rantimi Oluwasegun, George Church</i> Bacteria subsisting on antibiotics. Gautam Dantas Morten Sommer Rantimi Oluwasegun George Church doi:10.1126/science.1155157 Science (New York, N.Y.), Vol. 320, No. 5872. (4 April 2008), pp. 100-103, doi:10.1126/science.1155157 2008-05-16T15:27:19-00:00 2008 Science (New York, N.Y.) 1095-9203 320 5872 100 103 American Association for the Advancement of Science microbiomics http://www.citeulike.org/user/jasonbobe/article/2716998 <i>N Engl J Med, Vol. 358, No. 16. (17 April 2008), pp. 1653-1656, doi:10.1056/nejmp0801736</i><br /><br />Most physicians in the United States have paper medical records ? the sort that doctors have kept for generations. A minority have electronic records that provide, at a minimum, tools for writing progress notes and prescriptions, ordering laboratory and imaging tests, and viewing test results (see line graph).1 Yet electronic health data are poised for an online transformation that is being catalyzed by Dossia (a nonprofit consortium of major employers), Google Health, Microsoft HealthVault, and other Web services that are seeking expanded roles in the $2.1 trillion U.S. health care system. Online repositories will allow patients to store, retrieve, manage, and . . .<br /><i>Robert Steinbrook</i> Personally Controlled Online Health Data — The Next Big Thing in Medical Care? Robert Steinbrook doi:10.1056/nejmp0801736 N Engl J Med, Vol. 358, No. 16. (17 April 2008), pp. 1653-1656, doi:10.1056/nejmp0801736 2008-05-16T14:48:53-00:00 2008 N Engl J Med 358 16 1653 1656 Massachusetts Medical Society pchr http://www.citeulike.org/user/jasonbobe/article/2794300 <i>Scientific American (April 2008)</i><br /><i>Mitchell Waldrop</i> Science 2.0 -- Is Open Access Science the Future? Mitchell Waldrop Scientific American (April 2008) 2008-05-16T14:47:52-00:00 2008 Scientific American open-access science20 http://www.citeulike.org/user/jasonbobe/article/2805406 <i>Industrial biotechnology, Vol. 4, No. 1. (2008), pp. 39-49</i><br /><i>Stephen Aldrich, James Newcomb, Robert Carlson</i> Scenarios for the future of synthetic biology Stephen Aldrich James Newcomb Robert Carlson Industrial biotechnology, Vol. 4, No. 1. (2008), pp. 39-49 2008-05-16T14:45:52-00:00 2008 Industrial biotechnology 4 1 39 49 scenario-planning synthetic-biology http://www.citeulike.org/user/jasonbobe/article/1097076 <i>Am J Med Genet C Semin Med Genet, Vol. 142, No. 4. (15 November 2006), pp. 294-303, doi:10.1002/ajmg.c.30105</i><br /><br />It is increasingly clear that medical genetics has broad relevance in adult clinical medicine. More adult patients with genetic conditions are being recognized, genetic testing for adult-onset genetic conditions is expanding, and children with genetic conditions are now more likely to survive to adulthood. While the number of patients who could benefit from medical genetic services increases, adult care providers are less well educated about clinical genetics and are not sufficiently prepared to meet the growing needs of this population. Genetics professionals may also be ill-suited for this challenge, since geneticists and genetic counselors have traditionally had greater experience in pediatric and prenatal settings. Communication between primary care physicians who treat adults and the genetics community is currently suboptimal and the identification and subsequent referral of adult patients for genetic services need improvement. Finally, published guidelines that address how to deliver genetic services to adult patients are unavailable for many genetic conditions. In this article we address the challenges of transitioning genetics services from traditional, and largely pediatric-based models to paradigms that can best address the needs of adult patients with genetic conditions. Potential solutions and the practicality of implementation of a team-based approach to adult genetic medicine, including the application of genetic counseling, are also discussed.<br /><i>MR Taylor, JG Edwards, L Ku</i> Lost in transition: challenges in the expanding field of adult genetics. MR Taylor JG Edwards L Ku doi:10.1002/ajmg.c.30105 Am J Med Genet C Semin Med Genet, Vol. 142, No. 4. (15 November 2006), pp. 294-303, doi:10.1002/ajmg.c.30105 2008-05-13T01:50:12-00:00 2006 Am J Med Genet C Semin Med Genet 1552-4868 142 4 294 303 adult-genetics http://www.citeulike.org/user/jasonbobe/article/2792209 <i>JAMA : the journal of the American Medical Association, Vol. 292, No. 4. (28 July 2004), pp. 442-452, doi:10.1001/jama.292.4.442</i><br /><br />CONTEXT: As the availability of and demand for genetic testing for hereditary cancers increases in primary care and other clinical settings, alternative or adjunct educational methods to traditional genetic counseling will be needed. OBJECTIVE: To compare the effectiveness of a computer-based decision aid with standard genetic counseling for educating women about BRCA1 and BRCA2 genetic testing. DESIGN: Randomized controlled trial conducted from May 2000 to September 2002. SETTING AND PARTICIPANTS: Outpatient clinics offering cancer genetic counseling at 6 US medical centers enrolled 211 women with personal or family histories of breast cancer. INTERVENTIONS: Standard one-on-one genetic counseling (n = 105) or education by a computer program followed by genetic counseling (n = 106). MAIN OUTCOME MEASURES: Participants' knowledge, risk perception, intention to undergo genetic testing, decisional conflict, satisfaction with decision, anxiety, and satisfaction with the intervention. Counselor group measures were administered at baseline and after counseling. Computer group measures were administered at baseline, after computer use, and after counseling. Testing decisions were assessed at 1 and 6 months. Outcomes were analyzed by high vs low risk of carrying a BRCA1 or BRCA2 mutation. RESULTS: Both groups had comparable demographics, prior computer experience, medical literacy, and baseline knowledge of breast cancer and genetic testing, and both counseling and computer use were rated highly. Knowledge scores increased in both groups (P&#60;.001) regardless of risk status, and change in knowledge was greater in the computer group compared with the counselor group (P =.03) among women at low risk of carrying a mutation. Perception of absolute risk of breast cancer decreased significantly after either intervention among all participants. Intention to undergo testing decreased significantly after either intervention among low-risk but not high-risk women. The counselor group had lower mean scores on a decisional conflict scale (P =.04) and, in low-risk women, higher mean scores on a satisfaction-with-decision scale (P =.001). Mean state anxiety scores were reduced by counseling but were within normal ranges for both groups at baseline and after either intervention, regardless of risk status. CONCLUSIONS: An interactive computer program was more effective than standard genetic counseling for increasing knowledge of breast cancer and genetic testing among women at low risk of carrying a BRCA1 or BRCA2 mutation. However, genetic counseling was more effective than the computer at reducing women's anxiety and facilitating more accurate risk perceptions. These results suggest that this computer program has the potential to stand alone as an educational intervention for low-risk women but should be used as a supplement to genetic counseling for those at high risk.<br /><i>MJ Green, SK Peterson, MW Baker, GR Harper, LC Friedman, WS Rubinstein, DT Mauger</i> Effect of a computer-based decision aid on knowledge, perceptions, and intentions about genetic testing for breast cancer susceptibility: a randomized controlled trial. MJ Green SK Peterson MW Baker GR Harper LC Friedman WS Rubinstein DT Mauger doi:10.1001/jama.292.4.442 JAMA : the journal of the American Medical Association, Vol. 292, No. 4. (28 July 2004), pp. 442-452, doi:10.1001/jama.292.4.442 2008-05-13T01:42:51-00:00 2004 JAMA : the journal of the American Medical Association 1538-3598 292 4 442 452 cancer counseling decisionmaking genetic-testing rct web-based http://www.citeulike.org/user/jasonbobe/article/2789804 <i>Oncogene, Vol. 23, No. 38. (23 August 2004), pp. 6445-6470, doi:10.1038/sj.onc.1207714</i><br /><br />The past two decades have brought many important advances in our understanding of the hereditary susceptibility to cancer. Approximately 5-10% of all cancers are inherited, the majority in an autosomal dominant manner with incomplete penetrance. While this is a small fraction of the overall cancer burden worldwide, the molecular genetic discoveries that have resulted from the study of families with heritable cancer have not only changed the way these families are counselled and managed, but have shed light on molecular regulatory pathways important in sporadic tumour development as well. In this review, we consider 10 of the more highly penetrant cancer syndromes, with emphasis on those predisposing to breast, colon, and/or endocrine neoplasia. We discuss the prevalence, penetrance, and tumour spectrum associated with these syndromes, as well as their underlying genetic defects.<br /><i>R Nagy, K Sweet, C Eng</i> Highly penetrant hereditary cancer syndromes. R Nagy K Sweet C Eng doi:10.1038/sj.onc.1207714 Oncogene, Vol. 23, No. 38. (23 August 2004), pp. 6445-6470, doi:10.1038/sj.onc.1207714 2008-05-12T15:40:47-00:00 2004 Oncogene 0950-9232 23 38 6445 6470 cancer http://www.citeulike.org/user/jasonbobe/article/2789535 <i>Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society (3 May 2008), doi:10.1016/j.jcf.2008.03.009</i><br /><br />It is often challenging for the clinician interested in cystic fibrosis (CF) to interpret molecular genetic results, and to integrate them in the diagnostic process. The limitations of genotyping technology, the choice of mutations to be tested, and the clinical context in which the test is administered can all influence how genetic information is interpreted. This paper describes the conclusions of a consensus conference to address the use and interpretation of CF mutation analysis in clinical settings. Although the diagnosis of CF is usually straightforward, care needs to be exercised in the use and interpretation of genetic tests: genotype information is not the final arbiter of a clinical diagnosis of CF or CF transmembrane conductance regulator (CFTR) protein related disorders. The diagnosis of these conditions is primarily based on the clinical presentation, and is supported by evaluation of CFTR function (sweat testing, nasal potential difference) and genetic analysis. None of these features are sufficient on their own to make a diagnosis of CF or CFTR-related disorders. Broad genotype/phenotype associations are useful in epidemiological studies, but CFTR genotype does not accurately predict individual outcome. The use of CFTR genotype for prediction of prognosis in people with CF at the time of their diagnosis is not recommended. The importance of communication between clinicians and medical genetic laboratories is emphasized. The results of testing and their implications should be reported in a manner understandable to the clinicians caring for CF patients.<br /><i>C Castellani, H Cuppens, M Macek, J J Cassiman, E Kerem, P Durie, E Tullis, B M Assael, C Bombieri, A Brown, T Casals, M Claustres, G R Cutting, E Dequeker, J Dodge, I Doull, P Farrell, C Ferec, E Girodon, M Johannesson, B Kerem, M Knowles, A Munck, P F Pignatti, D Radojkovic, P Rizzotti, M Schwarz, M Stuhrmann, M Tzetis, J Zielenski, J S Elborn</i> Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. C Castellani H Cuppens M Macek J J Cassiman E Kerem P Durie E Tullis B M Assael C Bombieri A Brown T Casals M Claustres G R Cutting E Dequeker J Dodge I Doull P Farrell C Ferec E Girodon M Johannesson B Kerem M Knowles A Munck P F Pignatti D Radojkovic P Rizzotti M Schwarz M Stuhrmann M Tzetis J Zielenski J S Elborn doi:10.1016/j.jcf.2008.03.009 Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society (3 May 2008), doi:10.1016/j.jcf.2008.03.009 2008-05-12T14:03:25-00:00 2008 Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 1569-1993 cf http://www.citeulike.org/user/jasonbobe/article/2784386 <i>Genetics in medicine : official journal of the American College of Medical Genetics, Vol. 9, No. 5. (May 2007), pp. 259-267, doi:10.1097/gim.0b013e31805002f2</i><br /><br />PURPOSE: Individuals affected by genetic conditions are increasingly likely to seek information about inheritance and risk factors from their primary care physicians rather than a geneticist, but several studies suggest that few health care providers are capable of fulfilling that role or are comfortable doing so. Acknowledging that the adoption of new genetics knowledge and technologies is often patient-driven, we asked affected individuals and family members about their experiences in encounters with a variety of nongenetics-trained health care providers. METHODS: Staff at the National Coalition for Health Professional Education in Genetics, the Genetic Alliance, and a University of Maryland graduate student in genetic counseling drafted a web-based survey. We recruited study participants from the Genetic Alliance, and a total of 5915 respondents completed the questionnaire between December 2004 and August 2005. RESULTS: Overall, 64% of respondents reported receiving no genetics education materials from the provider type named most important in the management of the condition in the family. We present knowledge ratings for various provider types and themes emerging from written descriptions of positive and disappointing experiences. CONCLUSION: We discuss the implications of these and other results for continuing genetics education and for clinical practice.<br /><i>EK Harvey, CE Fogel, M Peyrot, KD Christensen, SF Terry, JD McInerney</i> Providers' knowledge of genetics: A survey of 5915 individuals and families with genetic conditions. EK Harvey CE Fogel M Peyrot KD Christensen SF Terry JD McInerney doi:10.1097/gim.0b013e31805002f2 Genetics in medicine : official journal of the American College of Medical Genetics, Vol. 9, No. 5. (May 2007), pp. 259-267, doi:10.1097/gim.0b013e31805002f2 2008-05-11T13:34:16-00:00 2007 Genetics in medicine : official journal of the American College of Medical Genetics 1098-3600 9 5 259 267 education opinion physicians survey http://www.citeulike.org/user/jasonbobe/article/2784377 <i>Academic medicine : journal of the Association of American Medical Colleges, Vol. 82, No. 5. (May 2007), pp. 441-445, doi:10.1097/acm.0b013e31803e86c5</i><br /><br />PURPOSE: Relatively little is known about how medical genetics is being taught in the undergraduate medical curriculum and whether educators concur regarding topical priority. This study sought to document the current state of medical genetics education in U.S. and Canadian accredited medical schools. METHOD: In August 2004, surveys were sent from the Indiana University School of Medicine to 149 U.S. and Canadian medical genetics course directors or curricular deans. Returned surveys were collected through June 2005. Participants were asked about material covered, number of contact hours, year in which the course was offered, and what department sponsored the course. Data were collated according to instructional method and course content. RESULTS: The response rate was 75.2%. Most respondents (77%) taught medical genetics in the first year of medical school; only half (47%) reported that medical genetics was incorporated into the third and fourth years. About two thirds of respondents (62%) devoted 20 to 40 hours to medical genetics instruction, which was largely concerned with general concepts (86%) rather than practical application (11%). Forty-six percent of respondents reported teaching a stand-alone course versus 54% who integrated medical genetics into another course. Topics most commonly taught were cancer genetics (94.2%), multifactorial inheritance (91.3%), Mendelian disorders (90.3%), clinical cytogenetics (89.3%), and patterns of inheritance (87.4%). CONCLUSIONS: The findings provide important baseline data relative to guidelines recently established by the Association of American Medical Colleges. Ultimately, improved genetics curricula will help train physicians who are knowledgeable and comfortable discussing and answering questions about genetics with their patients.<br /><i>VC Thurston, PS Wales, MA Bell, L Torbeck, JJ Brokaw</i> The current status of medical genetics instruction in US and Canadian medical schools. VC Thurston PS Wales MA Bell L Torbeck JJ Brokaw doi:10.1097/acm.0b013e31803e86c5 Academic medicine : journal of the Association of American Medical Colleges, Vol. 82, No. 5. (May 2007), pp. 441-445, doi:10.1097/acm.0b013e31803e86c5 2008-05-11T13:29:25-00:00 2007 Academic medicine : journal of the Association of American Medical Colleges 1040-2446 82 5 441 445 education physicians training http://www.citeulike.org/user/jasonbobe/article/2771728 <i>Lancet, Vol. 359, No. 9302. (19 January 2002), pp. 211-218, doi:10.1016/s0140-6736(02)07447-0</i><br /><br />BACKGROUND: There has been much interest in screening populations for disease-associated mutations. A favoured candidate has been the HFE gene, mutations of which are the most common cause of haemochromatosis in the European population. About five people in 1000 are homozygotes for the 845G--&#62;A mutation, but little is known of how many have mutation-caused clinical manifestations. METHODS: We screened 41038 individuals attending a health appraisal clinic in the USA for the 845G--&#62; A and 187C--&#62;G HFE mutations, and analysed laboratory data and data on signs and symptoms of haemochromatosis as elicited by questionnaire. FINDINGS: The most common symptoms of haemochromatosis, including poor general health, diabetes, arthropathies, arrhythmias, impotence, and skin pigmentation were no more prevalent among the 152 identified homozygotes than among the controls. The age distribution of homozygotes and compound heterozygotes did not differ significantly from that of controls: there was no measurable loss of such individuals from the population during ageing. However, there was a significantly increased prevalence of a history of hepatitis or &#34;liver trouble&#34; among homozygotes and in the proportion of homozygotes with increased concentrations of serum aspartate aminotransferase and collagen IV; these changes were not related to iron burden or to age. Only one of the 152 homozygotes had signs and symptoms that would suggest a diagnosis of haemochromatosis. INTERPRETATION: The normal age distribution of people with the haemochromatosis genotype, and the lack of symptoms in patients of all ages, indicate that the penetrance of hereditary haemochromatosis is much lower than generally thought. The clinical penetrance of a disorder is an essential consideration in screening for genetic disease; disorders with low penetrance are more expensive candidates for screening than disorders with high penetrance. Our best estimate is that less than 1% of homozygotes develop frank clinical haemochromatosis.<br /><i>E Beutler, VJ Felitti, JA Koziol, NJ Ho, T Gelbart</i> Penetrance of 845G--> A (C282Y) HFE hereditary haemochromatosis mutation in the USA. E Beutler VJ Felitti JA Koziol NJ Ho T Gelbart doi:10.1016/s0140-6736(02)07447-0 Lancet, Vol. 359, No. 9302. (19 January 2002), pp. 211-218, doi:10.1016/s0140-6736(02)07447-0 2008-05-08T14:06:03-00:00 2002 Lancet 0140-6736 359 9302 211 218 false-positives hfe incidentalome http://www.citeulike.org/user/jasonbobe/article/2767289 <i>Nature, Vol. 452, No. 7190. (24 April 2008), pp. 926-929</i><br /><i>B Trivedi</i> Biomedical science: betting the bank. B Trivedi Nature, Vol. 452, No. 7190. (24 April 2008), pp. 926-929 2008-05-07T20:29:11-00:00 2008 Nature 1476-4687 452 7190 926 929 biobanks cohort http://www.citeulike.org/user/jasonbobe/article/2694458 <i>N Engl J Med, Vol. 358, No. 16. (17 April 2008), pp. 1732-1737, doi:10.1056/nejmsb0800220</i><br /><br />10.1056/NEJMsb0800220<br /><i>Kenneth Mandl, Isaac Kohane</i> Tectonic Shifts in the Health Information Economy Kenneth Mandl Isaac Kohane doi:10.1056/nejmsb0800220 N Engl J Med, Vol. 358, No. 16. (17 April 2008), pp. 1732-1737, doi:10.1056/nejmsb0800220 2008-05-07T20:26:14-00:00 2008 N Engl J Med 1533-4406 358 16 1732 1737 informatics pchr http://www.citeulike.org/user/jasonbobe/article/2767281 <i>(April 2008)</i> A draft proposal for the required Minimum Information about a high-throughput Nucleotide SeQuencing Experiment - MINSEQE (April 2008) 2008-05-07T20:23:30-00:00 2008 sequencing sop standards http://www.citeulike.org/user/jasonbobe/article/2767277 <i>Nature, Vol. 451 (May 2008)</i><br /><i>M Wadman</i> Genetics Bill Cruises Through Senate M Wadman Nature, Vol. 451 (May 2008) 2008-05-07T20:21:19-00:00 2008 Nature 451 elsi gina nondiscrimination http://www.citeulike.org/user/jasonbobe/article/2767262 <i>Nature Reviews Genetics (2008)</i><br /><i>MW Foster, RR Sharp</i> Out of Sequence: How Consumer Genomics Could Displace Clinical Genetics MW Foster RR Sharp Nature Reviews Genetics (2008) 2008-05-07T20:13:55-00:00 2008 Nature Reviews Genetics dtc elsi http://www.citeulike.org/user/jasonbobe/article/2767255 <i>Harvard Magazine (May 2008), pp. 62-65</i><br /><br />Profiles Duana Race in a Genetic World Harvard Magazine (May 2008), pp. 62-65 2008-05-07T20:11:51-00:00 2008 Harvard Magazine 62 65 genetics race http://www.citeulike.org/user/jasonbobe/article/2747163 <i>JAMA : the journal of the American Medical Association, Vol. 296, No. 2. (12 July 2006), pp. 212-215, doi:10.1001/jama.296.2.212</i><br /><i>Isaac Kohane, Daniel Masys, Russ Altman</i> The incidentalome: a threat to genomic medicine. Isaac Kohane Daniel Masys Russ Altman doi:10.1001/jama.296.2.212 JAMA : the journal of the American Medical Association, Vol. 296, No. 2. (12 July 2006), pp. 212-215, doi:10.1001/jama.296.2.212 2008-05-02T22:11:33-00:00 2006 JAMA : the journal of the American Medical Association 1538-3598 296 2 212 215 elsi genomics incidentalome http://www.citeulike.org/user/jasonbobe/article/1107375 <i>European Journal of Clinical Nutrition, Vol. aop, No. current., doi:10.1038/sj.ejcn.1602641</i><br /><i>MD Holmes, IJ Powell, H Campos, MJ Stampfer, EL Giovannucci, WC Willett, </i> Validation of a food frequency questionnaire measurement of selected nutrients using biological markers in African-American men MD Holmes IJ Powell H Campos MJ Stampfer EL Giovannucci WC Willett doi:10.1038/sj.ejcn.1602641 European Journal of Clinical Nutrition, Vol. aop, No. current., doi:10.1038/sj.ejcn.1602641 2008-04-14T02:30:37-00:00 European Journal of Clinical Nutrition 0954-3007 aop current Nature Publishing Group nutrition http://www.citeulike.org/user/jasonbobe/article/1051903 <i>Nature, Vol. 445, No. 7125., pp. 257-258, doi:10.1038/445257a</i><br /><i>Walter Willett, William Blot, Graham Colditz, Aaron Folsom, Brian Henderson, Meir Stampfer</i> Merging and emerging cohorts: Not worth the wait Walter Willett William Blot Graham Colditz Aaron Folsom Brian Henderson Meir Stampfer doi:10.1038/445257a Nature, Vol. 445, No. 7125., pp. 257-258, doi:10.1038/445257a 2008-04-13T13:36:36-00:00 Nature 0028-0836 445 7125 257 258 Nature Publishing Group cohort study-design http://www.citeulike.org/user/jasonbobe/article/2468608 <i>Journal of Medical Ethics, Vol. 34, No. 3. (1 March 2008), pp. 210-213, doi:10.1136/jme.2006.020289</i><br /><br />Many research ethics guidelines now oblige researchers to offer research participants the results of research in which they participated. This practice is intended to uphold respect for persons and ensure that participants are not treated as mere means to an end. Yet some scholars have begun to question a generalised duty to disclose research results, highlighting the potential harms arising from disclosure and questioning the ethical justification for a duty to disclose, especially with respect to individual results. In support of this view, we argue that current rationales for a duty of disclosure do not form an adequate basis for an ethical imperative. We review policy guidance and scholarly commentary regarding the duty to communicate the results of biomedical, epidemiological and genetic research to research participants and show that there is wide variation in opinion regarding what should be disclosed and under what circumstance. Moreover, we argue that there is fundamental confusion about the notion of “research results,” specifically regarding three core concepts: the distinction between aggregate and individual results, amongst different types of research, and across different degrees of result veracity. Even where policy guidance and scholarly commentary have been most forceful in support of an ethical imperative to disclose research results, ambiguity regarding what is to be disclosed confounds ethical action.<br /><i>FA Miller, R Christensen, M Giacomini, JS Robert</i> Duty to disclose what? Querying the putative obligation to return research results to participants FA Miller R Christensen M Giacomini JS Robert doi:10.1136/jme.2006.020289 Journal of Medical Ethics, Vol. 34, No. 3. (1 March 2008), pp. 210-213, doi:10.1136/jme.2006.020289 2008-04-02T20:04:36-00:00 2008 Journal of Medical Ethics 34 3 210 213 disclosure study-design http://www.citeulike.org/user/jasonbobe/article/2624323 <i>Journal of medical ethics, Vol. 34, No. 3. (March 2008), pp. 198-201, doi:10.1136/jme.2006.019109</i><br /><br />Data monitoring committees often are employed to review interim findings of randomised controlled trials. Interim findings are kept confidential until the data monitoring committee finds that they provide sufficiently compelling evidence regarding efficacy, typically because they have crossed the pre-defined statistical boundaries, or they raise serious concerns about safety. While this practice is vital to maintaining the scientific integrity of controlled trials and thereby ensuring their social value, it has been criticised as unethical. Commentators argue that withholding interim findings from research participants is deceptive, inconsistent with valid informed consent, and a violation of respect for participants' autonomy. The present article examines these arguments, focusing specifically on confidential data monitoring for efficacy. This practice need not be deceptive provided its use is disclosed to prospective research participants. In addition, confidential data monitoring does not make research participants worse off than they would be in the clinical setting and represents an acceptable limitation on the options available to prospective research participants. Taken together, these considerations suggest confidential data monitoring, subject to adequate safeguards, is ethically acceptable.<br /><i>FG Miller, D Wendler</i> Is it ethical to keep interim findings of randomised controlled trials confidential? FG Miller D Wendler doi:10.1136/jme.2006.019109 Journal of medical ethics, Vol. 34, No. 3. (March 2008), pp. 198-201, doi:10.1136/jme.2006.019109 2008-04-02T19:54:06-00:00 2008 Journal of medical ethics 1473-4257 34 3 198 201 disclosure elsi study-design http://www.citeulike.org/user/jasonbobe/article/2477710 <i>The Journal of Law, Medicine &amp;#38; Ethics, Vol. 36, No. 1. (2008), pp. 174-178, doi:10.1111/j.1748-720x.2008.00245.x</i><br /><i>Rothstein, A Mark</i> Currents in Contemporary Ethics Rothstein A Mark doi:10.1111/j.1748-720x.2008.00245.x The Journal of Law, Medicine &#38; Ethics, Vol. 36, No. 1. (2008), pp. 174-178, doi:10.1111/j.1748-720x.2008.00245.x 2008-04-02T19:52:15-00:00 2008 The Journal of Law, Medicine & Ethics 1073-1105 36 1 174 178 Blackwell Publishing discrimination elsi gina legislation nondiscrimination policy http://www.citeulike.org/user/jasonbobe/article/2516348 <i>Med Law, Vol. 22, No. 3. (2003), pp. 401-409</i><br /><br />Screening activities in health care are not always useful and sometimes harmful. The mere offer of a screening test puts the individual's autonomy under constraint. With genetic (predictive and risk assessment) tests, the right to free, informed consent and to protection of privacy and medical confidentiality is even more warranted. Screening evokes many questions from the perspective of the right to health care as well as (in particular with genetic screening) from the perspective of respect for individual human rights. Fear of liability puts pressure on professional restraint not to offer every screening test available. States have to take legislative measures for guaranteeing that only those screening activities become available that can significantly contribute to individual and public health. They also should consider additional rules for protecting individual rights where those that are generally accepted in the &#34;ordinary&#34; medical setting (the individual patient-doctor relationship), offer insufficient protection.<br /><i>HR Abbing</i> Some legal aspects of genetic screening. HR Abbing Med Law, Vol. 22, No. 3. (2003), pp. 401-409 2008-04-02T19:48:51-00:00 2003 Med Law 0723-1393 22 3 401 409 esli screening http://www.citeulike.org/user/jasonbobe/article/2516353 <i>Health Policy, Vol. 18, No. 3. (August 1991), pp. 197-206</i><br /><br />Genetic information is a potential tool for selection of job applicants and of candidates for insurance. Social implications of genetic information may represent a threshold for the access to health care facilities. Some of the issues related to the use of predictive genetic information by private life and health insurance companies are discussed. They include the potential threat for the privacy of the individual and his relatives, the pressure to undergo genetic testing and the social consequences of the use of genetic information by private insurance companies. The justified financial interests of insurance companies and the interests of the individual to have his privacy protected and to be able to partake in social attainments have to be brought into balance. A ban on genetic testing in connection with access to insurances and a limitation to the use of existing genetic information have been suggested by the Dutch Health Council. This approach to the problem should be adopted throughout the European Communities, so that medical progress does not turn out to be against the interests of the consumer.<br /><i>HD Abbing</i> Genetic predictive testing and private insurances. HD Abbing Health Policy, Vol. 18, No. 3. (August 1991), pp. 197-206 2008-04-02T19:47:22-00:00 1991 Health Policy 0168-8510 18 3 197 206 elsi insurance http://www.citeulike.org/user/jasonbobe/article/2516412 <i>Hastings Cent Rep, Vol. 28, No. 4. (g 1998), pp. 15-21</i><br /><br />As panels of multiple genetic tests become increasingly available, clinicians face new challenges in helping patients understand the nature of these tests. Diagnostic tests for conditions that inevitably lead to disease, &#34;susceptibility&#34; tests that reveal heightened risk of disease, and tests for carrier status raise different concerns about informed consent and pose different needs for counseling. Clinicians must understand the implications of different kinds of tests, and of different arrays of tests in multiple panels, if multiplex tests are to be used wisely in clinical practice. Multiplex genetic testing. The Council on Ethical and Judicial Affairs, American Medical Association. Hastings Cent Rep, Vol. 28, No. 4. (g 1998), pp. 15-21 2008-04-02T19:34:33-00:00 1998 Hastings Cent Rep 0093-0334 28 4 15 21 elsi mutliplex http://www.citeulike.org/user/jasonbobe/article/2516418 <i>Am J Hum Genet, Vol. 59, No. 2. (August 1996), pp. 471-474</i> ASHG report. Statement on informed consent for genetic research. The American Society of Human Genetics. Am J Hum Genet, Vol. 59, No. 2. (August 1996), pp. 471-474 2008-04-02T19:33:19-00:00 1996 Am J Hum Genet 0002-9297 59 2 471 474 consent elsi http://www.citeulike.org/user/jasonbobe/article/2516423 <i>Am J Hum Genet, Vol. 56, No. 1. (January 1995), pp. 327-331</i><br /><br />The rapid expansion of opportunities for genetic testing has been accompanied by complex questions about the appropriate relationships between providers, patients, and insurers. Some of these questions involve large public-policy decisions, such as whether the government should guarantee access to health care for all citizens. Universal access to health care, without regard to past, present, or future risk of disease, could eliminate risk-oriented underwriting in health-care coverage. A positive response to that question will ameliorate other problems. Until universal access is reality, genetic testing and genetic diagnosis will raise important issues for the practicing geneticist. How much does a client need to know about insurance implications before consenting to a genetic test? Should patients be counseled to purchase insurance before being tested? Should genetic information be excluded from medical records before their release to insurance companies for routine reimbursements or underwriting? What are the ethical and legal responsibilities of the geneticist? Genetic testing and insurance. The Ad Hoc Committee on Genetic Testing/Insurance Issues. Am J Hum Genet, Vol. 56, No. 1. (January 1995), pp. 327-331 2008-04-02T19:32:44-00:00 1995 Am J Hum Genet 0002-9297 56 1 327 331 elsi insurance http://www.citeulike.org/user/jasonbobe/article/2523238 <i>Am J Obstet Gynecol (8 March 2008), doi:10.1016/j.ajog.2007.09.008</i><br /><br />Medical uses of genetic information have multiplied over the last several years. When an individual is a carrier of a clinically important allele, their kindred are at increased risk of carrying the same allele and of sharing the consequent risk of disease. If there were an intervention that could modify the risk of progression to disease, then there would be a clear advantage to kindred to be so informed. However, some probands may resist divulging that information to kindred for any of a variety of reasons, including the potential for discrimination. In this article we will review the manner in which the courts and professional organizations have viewed the conflict between 1 individual's right to privacy and another's right to information that could potentially be life saving or life prolonging. We will then consider the ethics of this issue and suggest an approach that physicians should take when confronting it.<br /><i>Howard Minkoff, Jeffrey Ecker</i> Genetic testing and breach of patient confidentiality: Law, ethics, and pragmatics. Howard Minkoff Jeffrey Ecker doi:10.1016/j.ajog.2007.09.008 Am J Obstet Gynecol (8 March 2008), doi:10.1016/j.ajog.2007.09.008 2008-04-02T19:31:49-00:00 2008 Am J Obstet Gynecol 1097-6868 confidentiality duty_to_warn elsi http://www.citeulike.org/user/jasonbobe/article/2572851 <i>Eur J Hum Genet, Vol. 16, No. 4. (0000), pp. 405-411, doi:10.1038/sj.ejhg.5201929</i><br /><i>S Ayme, G Matthijs, S Soini</i> Patenting and licensing in genetic testing S Ayme G Matthijs S Soini doi:10.1038/sj.ejhg.5201929 Eur J Hum Genet, Vol. 16, No. 4. (0000), pp. 405-411, doi:10.1038/sj.ejhg.5201929 2008-04-02T19:30:28-00:00 0000 Eur J Hum Genet 16 4 405 411 Nature Publishing Group ip http://www.citeulike.org/user/jasonbobe/article/2624228 <i>Nature reviews. Genetics, Vol. 9, No. 5. (01 May 2008), pp. 406-411, doi:10.1038/nrg2360</i><br /><br />Recent advances in high-throughput genomic technologies are showing concrete results in the form of an increasing number of genome-wide association studies and in the publication of comprehensive individual genome-phenome data sets. As a consequence of this flood of information the established concepts of research ethics are stretched to their limits, and issues of privacy, confidentiality and consent for research are being re-examined. Here, we show the feasibility of the co-development of scientific innovation and ethics, using the open-consent framework that was implemented in the Personal Genome Project as an example.<br /><i>Jeantine Lunshof, Ruth Chadwick, Daniel Vorhaus, George Church</i> From genetic privacy to open consent. Jeantine Lunshof Ruth Chadwick Daniel Vorhaus George Church doi:10.1038/nrg2360 Nature reviews. Genetics, Vol. 9, No. 5. (01 May 2008), pp. 406-411, doi:10.1038/nrg2360 2008-04-02T18:48:45-00:00 2008 Nature reviews. Genetics 1471-0064 9 5 406 411 Nature Publishing Group consent elsi open-consent privacy http://www.citeulike.org/user/jasonbobe/article/2622098 <i>Medicine, Vol. 84, No. 4. (July 2005), pp. 197-207</i><br /><br />The herbal extracts kava and valerian are the leading dietary supplements used in the self-management of anxiety and insomnia, respectively. There is limited evidence to support their effectiveness for these common symptoms. The Internet has been used to a limited extent for research, but it is not known whether randomized controlled trials can be conducted entirely using Internet technology. We performed a randomized, double-blind, placebo-controlled trial using a novel Internet-based design to determine if kava is effective for reducing anxiety and if valerian is effective for improving sleep quality. E-mail recruitment letters and banner advertisements on websites were used to recruit a large pool of interested participants (1551) from 45 states over an 8-week period. Participants were first asked to read study information, complete an online informed consent process, and undergo electronic identity verification. In order to be eligible for the study, participants were required to have 1) anxiety as documented by scores of at least 0.5 standard deviations above the mean on the State-Trait Anxiety Inventory State subtest (STAI-State) on 2 separate occasions, and 2) insomnia, defined as a &#34;problem getting to sleep or staying asleep over the past 2 weeks.&#34; We randomly assigned 391 eligible participants to 1 of the following 3 groups, and mailed 28 days' supply: kava with valerian placebo (n = 121), valerian with kava placebo (n = 135), or double placebo (n = 135). The primary outcome measures were changes from baseline in anxiety (STAI-State questionnaire) and insomnia (Insomnia Severity Index [ISI]) compared with placebo. Participants receiving placebo had a 14.4 point decrease in anxiety symptoms on the STAI-State score and an 8.3 point decrease in insomnia symptoms on the ISI. Those receiving kava had similar reductions in STAI-State score (2.7 point greater reduction in placebo compared with kava; 95% confidence interval [CI], -0.8 to +6.2). Those receiving valerian and placebo had similar improvements in sleep (0.4 point greater reduction in the placebo than the valerian group; 95% CI, -1.3 to +2.1). Results were similar when limited to the 83% of participants who adhered to study compounds for all 4 weeks. Neither kava nor valerian relieved anxiety or insomnia more than placebo. This trial demonstrates the feasibility of conducting randomized, blinded trials entirely via the Internet.<br /><i>BP Jacobs, S Bent, JA Tice, T Blackwell, SR Cummings</i> An internet-based randomized, placebo-controlled trial of kava and valerian for anxiety and insomnia. BP Jacobs S Bent JA Tice T Blackwell SR Cummings Medicine, Vol. 84, No. 4. (July 2005), pp. 197-207 2008-04-02T05:06:34-00:00 2005 Medicine 0025-7974 84 4 197 207 internet-based-trials medicine selfreport study-design