DTC基因检测的伦理思考

直接面向消费者提供基因检测服务称为Direct-to-Consumer (DTC)基因检测.随着人类基因组计划测序工作的完成,DTC基因检测服务行业逐渐发展起来,它的出现与人们日益提高的健康需要相适应.但与此同时,一些社会伦理和法律问题也随之产生.对DTC基因检测的现状以及各国对其认可度进行阐述,剖析DTC基因检测存在的伦理问题,如隐私问题,有限的预测价值,检测信息的准确性,检测结果对受试者造成的负面心理影响,以及由此产生的基因歧视和卫生保健资源的浪费等.     

Direct-to-Consumer Genetic Testing: Introduction to the Special Issue

This issue of the Journal of Genetic Counseling is devoted to direct-to-consumer (DTC) genetic testing. The 15 articles in this special issue address practice considerations for genetic counselors and other health care professionals; the benefits and limitations of DTC genetic testing; consumer and provider attitudes towards and experience with DTC testing; and the roles and educational needs of genetic counselors and other health care providers in providing and interpreting DTC genetic testing. In this introduction to the special issue, we provide a brief background on DTC genetic testing, summarize the important contribution of the articles included in this issue, and outline the essential work that still needs to be done as genetic counselors are increasingly engaged in discussions, education, and research about DTC genetic testing.     

Educational Needs of Primary Care Physicians Regarding Direct-to-Consumer Genetic Testing

To assess the educational needs of North Carolina primary care physicians (PCPs) about direct-to-consumer (DTC) genetic testing, surveys were mailed to 2,402 family and internal medicine providers in North Carolina. Out of 382 respondents, 323 (85%) felt unprepared to answer patient questions and 282 (74%) reported wanting to learn about DTC genetic testing. A total of 148 (39%) were aware of DTC genetic testing. Among these, 63 (43%) thought DTC genetic testing was clinically useful. PCPs who felt either unprepared to answer patient questions (OR = 0.354, p = 0.01) or that DTC genetic testing was clinically useful (OR = 5.783, p = 0.00) were more likely to want to learn about DTC genetic testing. PCPs are interested in learning about DTC genetic testing, but are mostly unaware of DTC testing and feel unprepared to help patients with DTC testing results. Familiar and trusted channels that provide the information and tools PCPs need to help answer patient’s questions and manage their care should be used when creating educational programs.     

Counseling Customers: Emerging Roles for Genetic Counselors in the Direct-to-Consumer Genetic Testing Market

Individuals now have access to an increasing number of internet resources offering personal genomics services. As the direct-to-consumer genetic testing (DTC GT) industry expands, critics have called for pre- and post-test genetic counseling to be included with the product. Several genetic testing companies offer genetic counseling. There has been no examination to date of this service provision, whether it meets critics’ concerns and implications it may have for the genetic counseling profession. Considering the increasing relevance of genetics in healthcare, the complexity of genetic information provided by DTC GT, the mediating role of the internet in counseling, and potential conflicts of interest, this is a topic which deserves further attention. In this paper we offer a discourse analysis of ways in which genetic counseling is represented on DTC GT websites, blogs and other online material. This analysis identified four types of genetic counseling represented on the websites: the integrated counseling product; discretionary counseling; independent counseling; and product advice. Genetic counselors are represented as having the following roles: genetics educator; mediator; lifestyle advisor; risk interpreter; and entrepreneur. We conclude that genetic counseling as represented on DTC GT websites demonstrates shifting professional roles and forms of expertise in genetic counseling. Genetic counselors are also playing an important part in how the genetic testing market is taking shape. Our analysis offers important and timely insights into recent developments in the genetic counseling profession, which have relevance for practitioners, researchers and policy makers concerned with the evolving field of personal genomics.     

Informed Choice in Direct-to-Consumer Genetic Testing (DTCGT) Websites: A Content Analysis of Benefits,Risks, and Limitations

An informed choice about health-related direct-to-consumer genetic testing (DTCGT) requires knowledge of potential benefits, risks, and limitations. To understand the information that potential consumers of DTCGT services are exposed to on company websites, we conducted a content analysis of 23 health-related DTCGT websites. Results revealed that benefit statements outweighed risk and limitation statements 6 to 1. The most frequently described benefits were: 1) disease prevention, 2) consumer education, 3) personalized medical recommendations, and 4) the ability to make health decisions. Thirty-five percent of websites also presented at least one risk of testing. Seventy-eight percent of websites mentioned at least one limitation of testing. Based on this information, potential consumers might get an inaccurate picture of genetic testing which could impact their ability to make an informed decision. Practices that enhance the presentation of balanced information on DTCGT company websites should be encouraged.     

Gender Stereotyping in Televised Media Sport Coverage

Sports spectators usually experience sportsthrough different mass media. To deepen ourunderstanding of the cultural values embedded in sportsand to explore current values and power structuresregarding men and women, it is necessary to investigatethe potential effect that mass media may have ininfluencing beliefs about gender-appropriate sportbehavior. In several cases previous studies have shownbiases in the representation and portrayal ofathletes, particularly with reference to gender. Thepresent study examined samples of televised sports inSweden during 1995/96 (1,470 minutes), with a follow-up examination in 1998 (528 minutes). The resultsindicated gender differences regarding both quantity andtype of coverage. For example, less than 10% of thetotal examined sports news time covered female athletes, and less than 2% of the time was usedto cover women athletes in sports categorized asmasculine. It seems that televised media sports coveragecontinues to reinforce constructions of divisions along lines of gender and to reproducetraditional expectations regarding femininity andmasculinity.     

Psychological Distress with Direct-to-Consumer Genetic Testing: A Case Report of an Unexpected <Emphasis Type="Italic">BRCA</Emphasis> Positive Test Result

We report a case of a client who discovered she had a BRCA mutation following direct-to-consumer (DTC) genetic testing in the absence of genetic counseling. After testing she presented for genetic counseling with anxiety, distress, and a deficit of knowledge about what the DTC genetic testing revealed. Genetic counseling helped alleviate distress while empowering the client to apply the results of testing to improve medical management. Despite recent studies demonstrating no negative psychological impact of DTC genetic testing on the consumer, this case illustrates that significant psychological distress and confusion can occur as a result of DTC genetic testing for highly penetrant single gene disorders. Pre- and post-test genetic counseling in conjunction with DTC genetic testing may alleviate consumers’ distress and empower clients to proactively utilize their result information.     

关于基因检测的伦理思考

随着基因组学的发展,在临床医学中出现了基因检测的新方法,它的临床应用带来了一些伦理、法律和社会问题.从伦理学的角度出发,对基因检测中出现或有可能出现的伦理问题进行探讨,提出进行基因检测应遵循的伦理原则.     

Effect of Direct-to-Consumer Genetic Tests on Health Behaviour and Anxiety: A Survey of Consumers and Potential Consumers

Direct-to-consumer (DTC) genetic tests can be purchased over the internet. Some companies claim to provide relative genetic risks for various diseases and thus encourage healthy behaviour. There are concerns that exposure to such information may actually discourage healthy behaviour or increase health anxiety. An online survey was conducted (n?=?275). Respondents were composed of individuals who had purchased a DTC genetic test and received their results (consumers, n?=?189), as well as individuals who were either awaiting test results or considering purchasing a test (potential consumers, n?=?86). Consumers were asked if their health behaviour or health anxiety had changed after receiving their results. Respondents’ current health behaviour and health anxiety were queried and compared. In total, 27.3 % of consumers claimed a change in health behaviour, all either positive or neutral, with no reported cessation of any existing health behaviour. A change in health anxiety was claimed by 24.6 % of consumers, 85.3 % of which were a reduction. Consumers had significantly better health behaviour scores than potential consumers (p?=?0.02), with no significant difference in health anxiety. This study points towards an association between receipt of DTC genetic test results and increased adoption of healthy behaviours for a minority of consumers based on self-report, with more mixed results in relation to health anxiety.     

Racial and Ethnic Differences in Direct-to-Consumer Genetic Tests Awareness in HINTS 2007: Sociodemographic and Numeracy Correlates

To examine the association of 1) race/ethnicity and 2) numeracy with awareness of DTC genetic tests. Secondary analysis of 6,754 Hispanic, black, and white adult respondents to the National Cancer Institute’s 2007 Health Information National Trends Survey (HINTS). Logistic regression was used to examine sociodemographic predictors of DTC genetic tests awareness including race/ethnicity, income, education, and gender. Next, two numeracy variables were added to the model. After controlling for sociodemographic variables, black respondents were significantly less likely to have heard of DTC genetic tests compared to white respondents (OR = 0.79; CI: 0.65–0.97). When numeracy variables were added to the model, the effect of black race was no longer significant (OR = 0.84; CI: 0.69–1.04). Hispanic respondents did not significantly differ from white respondents in awareness of DTC genetic tests. Other significant correlates of DTC genetic tests awareness in the full model included education, income, age, and numeracy variables including degree to which people use medical statistics and numbers to make health decisions, and preference for words or numbers when discussing “the chance of something happening.” Although black respondents were generally less aware of DTC genetic tests than white respondents, this relationship appears to be partially mediated by numeracy.     

Attitudes of Genetic Counselors Towards Genetic Susceptibility Testing in Children

Genetic susceptibility research and testing is leading to an era of personalized medicine. Genetic counselors act as liaisons between the medical genetics community and the public. Understanding the opinions of genetic counselors will be important in developing testing guidelines. Attitudes towards genetic susceptibility testing in children were assessed for 216 NSGC members. Genetic counselors were likely to support testing if the results would determine: disease progression or prognosis, likelihood of survival after a specific treatment, or risk for an adverse drug reaction. Genetic counselors were unlikely to support testing to determine susceptibility to later disease development or in the absence of available intervention. There was a strong positive correlation between attitudes associated with desire to test their own child, if at risk and their support for genetic testing in any child at risk. Respondents strongly favored parent/guardian and child’s rights over doctor or insurance rights. They indicated assent should be obtained prior to testing, when appropriate, and that a copy of results should be kept in a permanent medical record. Respondents expressed concerns about insurance discrimination, testing in the absence of medical necessity, and taking away a child’s autonomy.     

近五年新闻界无神论与科学报道剖析

“4·25”事件震动了我国社会。2002年6月全国人大常委会通过《科学技术普及法》,其中专门规定:“科普工作应当坚持科学精神,反对和抵制伪科学”,“新闻出版、广播影视、文化等机构和团体应当发挥各自优势做好科普宣传工作”。     

The Influence of Media Coverage on Responses to a Hypothetical Burglary Scenario1

The present study examined whether media coverage was likely to have an effect on burglars' emotional, cognitive, and behavioral responses to the offense. Questionnaires were distributed to 224 male students, who were asked to imagine that they had committed a “burglary under the influence of alcohol.” They were asked to express their thoughts, feelings, and possible actions, both before and after reading a newspaper article about the offense. A multidimensional scaling procedure identified 4 response themes: guilt, fear, forensic awareness, and pride. Two persuasion variables (inducing guilt and a hidden message) were found to have a multifaceted influence on the 4 themes. Implications for police use of the media as well as limitations of the study are discussed.     

The Family Covenant and Genetic Testing

The physician-patient relationship has changed over the last several decades, requiring a systematic reevaluation of the competing demands of patients, physicians, and families. In the era of genetic testing, using a model of patient care known as the family covenant may prove effective in accounting for these demands. The family covenant articulates the roles of the physician, patient, and the family prior to genetic testing, as the participants consensually define them. The initial agreement defines the boundaries of autonomy and benefit for all participating family members. The physician may then serve as a facilitator in the relationship, working with all parties in resolving potential conflicts regarding genetic information. The family covenant promotes a fuller discussion of the competing ethical claims that may come to bear after genetic test results are received.     

基因检测与治疗中若干问题的伦理学思考

随着基因组学的发展,临床医学中出现了基因检测与基因治疗的新方法,伴随着基因技术的临床应用出现了一些伦理、法律和社会新问题,迫使人们从理论和观念层次加以考察并探讨解决问题的可能性途径,对基因检测和基因治疗中出现或可能出现的伦理学问题进行了初步探讨,结合国际人类基因组计划的有关规范,探索了解决问题的可能性途径。     

Prevalence of Genetic Testing in CHARGE Syndrome

Parents of 145 individuals with a clinical diagnosis of CHARGE syndrome, ages 2 to 39 years, indicated in a survey whether their child had been tested for the CHD7 mutation, which is the only gene presently known to be associated with CHARGE. More than two thirds (68%) of the affected individuals had never been gene tested. Of the 46 who had been tested, 74% tested positive for the mutation. Half (50%) of those who underwent testing did so as a part of a conference blood draw by Baylor College of Medicine in 1999. Children who were tested were significantly younger than those who had not been tested. A second group of 43 parents were informally surveyed at a conference in 2009. More than half of their children had been tested, and nearly 70% were positive for the mutation. Reasons given by these parents for testing included confirming the diagnosis and assisting research. Reasons given for not testing included lack of opportunity, no known benefit, and lack of insurance coverage.