Professional and personal attitudes about access and confidentiality in the genetic testing of children: a pilot study

The ability to perform predictive genetic testing of children raises ethical concerns regarding whether and when to test and the disclosure of results. Semi-structured interviews with a convenience sample of pediatricians (12) and geneticists (13) were conducted to see how they would react to parental requests for predictive genetic testing of their children, and their attitudes about testing their own children. We also asked about disclosure attitudes and practices for their patients' relatives and within their own families. Respondents would provide predictive genetic testing for most conditions, yet were less likely to seek this information about their own children. Respondents believed it was very important for patients to share some types of genetic information with relatives, and were directive in their counseling about intrafamilial disclosure, especially within their own families. Although respondents would almost never breach patient confidentiality, many would breach confidentiality within their own families. Health care professionals distinguish between their professional and personal roles with regard to issues of access and confidentiality in predictive testing of children. They are willing to provide greater access and more confidentiality for their patients than within their own families.     

Bioethics for clinicians: 14. Ethics and genetics in medicine

Information about a patient''s inherited risk of disease has important ethical and legal implications in clinical practice. Because genetic information is by nature highly personal yet familial, issues of confidentiality arise. Counselling and informed consent before testing are important in view of the social and psychological risks that accompany testing, the complexity of information surrounding testing, and the fact that effective interventions are often not available. Follow-up counselling is also important to help patients integrate test results into their lives and the lives of their relatives. Genetic counselling should be provided by practitioners who have up-to-date knowledge of the genetics of and the tests available for specific diseases, are aware of the social and psychological risks associated with testing, and are able to provide appropriate clinical follow-up. Some physicians may elect to refer patients for genetic counselling and testing. However, it is inevitable that all physicians will be involved in long-term follow-up both by monitoring for disease and by supporting the integration of genetic information into patients'' lives.     

Testing participation in BRCA1/2-positive families: initiator role of index cases

The objectives of this study were to: (1) describe diffusion of information by affected women in whom a mutation has been identified (index cases) to their families and testing participation among high-risk relatives; (2) assess information recall and understanding by index cases and their satisfaction with the testing process; and (3) determine the factors associated with higher/lower testing decision in the family. Thirty index cases completed a self-administered questionnaire assessing their personal and family characteristics and their satisfaction with their own genetic testing process and a telephone interview to evaluate their knowledge about the risk of a genetic predisposition to breast and ovarian cancer, the type and number of close relatives that they informed, and the difficulties that they encountered. Information about breast/ovarian cancer risk and test availability was generally well transmitted (75%), predominantly (88%) to first-degree relatives. In contrast, testing participation was low (15%) and essentially occurred among sisters and daughters. There was a general lack of knowledge despite a high level of satisfaction regarding the information given by the geneticist. Family support and the knowledge of index cases about the risk of transmission of BRCA1/2 mutations by women were found to be positively and significantly associated with the testing decision among first-degree relatives. Difficulties in informing relatives appeared to be related to poor understanding of the information by index cases, as well as fear, and avoidance among close relatives. A major challenge for genetic counseling is to ensure that consulting patients not only receive complete understanding but also understand this information and anticipate the impact of the test result before deciding to take the test.     

Genetics providers and the family covenant: connecting individuals with their families

As genetic testing becomes more commonplace, medicine will likely face both family and individual demands for access to, and control of, test result information. Past research has emphasized confidentiality concerns of the individual and contrasted these claims with the "need to know" by others to avoid harm. These confidentiality concerns, based on individual self-interest, are challenged by a singularly important aspect of genetic testing-familial responsibility. As patients are often motivated to obtain genetic testing by an array of "other-directed" considerations toward their own family (such as love, fiduciary responsibility, gratitude, etc.), an accounting of these concerns is warranted. Understanding the relevance of family relationships and obligations facilitates a fuller informed consent for genetic testing. Genetic counselors and geneticists engaging in genetic counseling can account for the concerns of both individuals and their families using the family covenant-a helpful, innovative model to address proactively boundaries of privacy and information sharing within the family. This model focuses on two areas of discussion: (1) the demarcation of the boundaries of confidentiality; and (2) the definition of "family." The family covenant helps genetics providers consider what information "should" be confidential, and with respect to whom.     

Closing the gaps in genetics legislation and policy: a report by the new york state task force on life and the law

The New York State Task Force on Life and the Law, a state bioethical policy commission, recently completed a project addressing the ethical, legal, and social concerns surrounding the predictive uses of genetic testing. Its report, Genetic Testing and Screening in the Age of Genomic Medicine, makes legislative, public policy, and practice recommendations on a host of issues. As part of this project, the Task Force reviewed the current policy and legislative landscapes related to confidentiality protections for genetic information and the use of genetic information by insurers. It also assessed requirements for informed consent to clinical genetic testing and for the use of clinical samples for genetics research. The Task Force considered gaps and unintended consequences of relevant genetic testing legislation and assessed its flexibility to address new uses of genetic testing, such as pharmacogenetic testing, and new ways of offering tests, such as multiplex testing panels. The Task Force also considered the relevance of the pleiotropic characteristic of genes for issues of informed consent to genetic testing and the confidentiality of genetic information. The Task Force's recommendations, presented here, seek to promote the appropriate uses of clinical genetic testing and research while preventing potential harms.     

Colorectal cancer cases and relatives of cases indicate similar willingness to receive and disclose genetic information

Context: Recent developments in genetic testing allow us to detect individuals with inherited susceptibility to some cancers. Genetic testing to identify carriers of cancer-related mutations may help lower risk by encouraging preventive behaviors and surveillance. This study assessed willingness of colon cancer cases and relatives to receive genetic information that may indicate an increased risk for cancer, to whom they would disclose genetic information, and whether receiving genetic test results may influence future prevention behaviors among individuals enrolled in the Seattle Colorectal Cancer Family Registry. Methods: Incident invasive colorectal cancer cases were identified from the Puget Sound Surveillance Epidemiology and End Results (SEER) registry. In 2007, a sequential sample of cases and relatives (n = 147) were asked to respond to a questionnaire addressing study aims. The questionnaire was administered during a baseline or 5-year follow-up interview. Results: Patterns of response to each statement were similar between colorectal cancer cases and relatives. Both colorectal cases (95%) and relatives (95%) reported willingness to receive genetic information. Nearly all participants would tell their doctor the results of a genetic test (99% of cases; 98% of relatives), and all married participants would tell their spouses. Cases (96%) anticipated being slightly more likely than relatives (90%) to change their cancer screening behavior, but this difference was not statistically significant (p = 0.33). Conclusions: A high percentage of both colorectal cancer cases and relatives sampled from the Seattle Colorectal Cancer Family Registry are interested in identifying their genetic status, discussing their genetic status with their family and doctor, and adopting behavioral changes that may reduce cancer risk.     

AIDS and medical confidentiality.

In summary, I have argued that the arguments offered or hinted at in favour of doctors'' breaking medical confidentiality by passing on information about their patients'' HIV state to others, including other doctors, when this is against the patient''s considered wishes are generally unconvincing. Although in highly exceptional cases there may be justifications for overriding confidentiality, the requirement of medical confidentiality is a very strong, though not absolute, obligation. Patients, their contacts, doctors and their staff, and the common good are most likely to be best served if that tradition continues to be honoured.     

The Double Helix: Applying an Ethic of Care to the Duty to Warn Genetic Relatives of Genetic Information

Genetic testing reveals information about a patient's health status and predictions about the patient's future wellness, while also potentially disclosing health information relevant to other family members. With the increasing availability and affordability of genetic testing and the integration of genetics into mainstream medicine, the importance of clarifying the scope of confidentiality and the rules regarding disclosure of genetic findings to genetic relatives is prime. The United Nations International Declaration on Human Genetic Data urges an appreciation for principles of equality, justice, solidarity and responsibility in the context of genetic testing, including a commitment to honoring the privacy and security of the person tested. Considering this global mandate and recent professional statements in the context of a legal amendment to patient privacy policies in Australia, a fresh scrutiny of the legal history of a physician's duty to warn is warranted. This article inquiries whether there may be anything ethically or socially amiss with a potential future recommendation for health professionals or patients to universally disclose particular cancer predisposition genetic diagnosis to genetic family members. While much of the discussion remains applicable to all genetic diagnosis, the article focuses on the practice of disclosure within the context of BRCA1/2 diagnosis. An ‘ethic of care’ interpretation of legal tradition and current practice will serve to reconcile law and medical policy on the issue of physician disclosure of genetic results to family members without patient consent.     

Factors determining dissemination of results and uptake of genetic testing in families with known BRCA1/2 mutations

BACKGROUND: Uptake of genetic testing remains low, even in families with known BRCA1 and BRCA2 (BRCA1/2) mutations, despite effective interventions to reduce risk. We report disclosure and uptake patterns by BRCA1/2-positive individuals to at-risk relatives, in the setting of no-cost genetic counseling and testing. METHODS: Relatives of BRCA1/2-positive individuals were offered cost-free and confidential genetic counseling and testing. If positive for a BRCA1/2 mutation, participants were eligible to complete a survey about their disclosure of mutation status and the subsequent uptake of genetic testing by at-risk family members. RESULTS: One hundred and fifteen of 142 eligible individuals responded to the survey (81%). Eighty-eight (77%) of those surveyed disclosed results to all at-risk relatives. Disclosure to first-degree relatives (FDRs) was higher than to second-degree relatives (SDRs) and third-degree relatives (TDR) (95% vs. 78%; p < 0.01). Disclosure rates to male versus female relatives were similar, but reported completion of genetic testing was higher among female versus male FDRs (73% vs. 49%; p < 0.01) and SDRs (68% vs. 43%; p < 0.01), and among members of maternal versus paternal lineages (63% vs. 0%; p < 0.01). Men were more likely than women to express general difficulty discussing positive BCRA1/2 results with at-risk family members (90% vs. 70%; p = 0.03), while women reported more emotional distress associated with disclosure than men (48% vs. 13%; p < 0.01). DISCUSSION: We report a very high rate of disclosure of genetic testing information to at-risk relatives. However, uptake of genetic testing among at-risk individuals was low despite cost-free testing services, particularly in men, SDRs, and members of paternal lineages. The complete lack of testing among paternally related at-risk individuals and the lower testing uptake among men signify a significant barrier to testing and a challenge for genetic counselors and physicians working with high-risk groups. Further research is necessary to ensure that family members understand their risk and the potential benefits of genetic counseling.     

Doctors' rights and patients' obligations

Marshall examines arguments for and against physicians breaching their duty of confidentiality to persons diagnosed with HIV or AIDS by notifying third parties such as sexual partners or general practitioners who give care unrelated to HIV or AIDS. The arguments presuppose that the confidentiality right is not absolute, but may give way under certain circumstances. A physician's obligations to the larger community, for instance, may outweigh the obligation to keep a diagnosis of AIDS or HIV confidential. Marshall also argues that physicians who incur risks by treating patients with AIDS or HIV have a right to knowledge that will help them protect themselves. A patient with AIDS or HIV may be obliged to reveal this fact to physicians when seeking care for other health problems, or to allow the diagnosing physican to do so. These arguments may have implications for the debate over testing patients for AIDS or HIV without consent.     

Seeing and knowing in twenty-first century genetic medicine: the clinical pedigree as epistemological tool and hybrid risk technique

This paper explores the clinical pedigree as a risk technique within the context of the predictive genetic testing (PGT) clinic. We situate the PGT clinic as a site of genetic governance in that it is a site both for the production of knowledge about genetic risk and for intervening in the everyday lives of individuals and their families who learn to cultivate their relations with themselves and their biological relatives in relation to genetic risk knowledge. Drawing on literature of the pedigree as socially constructed and on notions of risk governance, we suggest that the pedigree operates as an epistemological tool and risk technique – that is, as a visual device that assists in organizing the social relations of knowledge production and aids in effecting shifts in patient subjectivity in ways that are consistent with neoliberal notions of active citizenship.     

Experiences of Genetic Risk: Disclosure and the Gendering of Responsibility

The question of ‘who owns genetic information‘ is increasingly a focus of ethical inquiry. Applied to predictive testing, several recent critiques suggest that persons with a genetic disorder have a moral duty to disclose that information to other family members. The justification for this obligation is that genetic information belongs to and may benefit not only a single individual, but also members of a biological kinship. This paper considers this issue from a different vantage point: How does gender intersect with the moral duty to disclose genetic information? Scholars have argued that gender is partly comprised of distinct assignments and assumptions of responsibility. Thus, there is a danger that gendered patterns of socialization will make women feel that they should take primary responsibility for disclosing genetic information to others. This article explores issues of responsibility and disclosure of risk information by drawing on an empirical study of women and men who have undergone genetic testing for hereditary breast/ovarian cancer. The research study suggests that disclosure of genetic information is a gendered activity, with both the benefits and burdens of this task falling primarily on women. It also illustrates that when disclosure is understood contextually, it is a far more complicated matter than when viewed through a theoretical lens. The article considers the relevance of these findings on ethical debate and genetic counselling practices.     

Impact of genetic testing for breast-ovarian cancer susceptibility

Previously, we have reported a clinical trial in which any woman in a defined geographic region who had a qualifying family history and who was referred by her physician or who was identified through a regional cancer registry was offered free genetic counseling, BRCA testing, and recommendations based on test results. Each family was represented by one affected and one unaffected person. Of the 87 families actually tested, 13 were found to have deleterious mutations. To assess the impact of the counseling and testing process, we contacted the tested individuals 1 month and 1 year after receiving the test result and those with an abnormal test result after 4 years. Index subjects, we found, differed significantly from relatives. Before coming for counseling, index subjects perceived both their general health and emotional health as worse than did their relatives. After counseling and testing, index subjects continue to worry more about breast cancer than do relatives. Affected subjects, we found, differed significantly from unaffected subjects. Before counseling, affected subjects knew more about breast cancer, perceived their general health as poorer, and reported greater adherence to recommended breast cancer surveillance than did unaffected subjects. After counseling and testing, affected subjects were less satisfied than unaffected subjects with having been tested. This study indicates that the group most prone to distress by cancer risk genetic counseling and testing is not the recruited relatives, nor even those affected with cancer, but rather the index patients themselves. The index patients, i.e., the ones who want the risk information most, appear to undergo the most stress in obtaining it.     

Privacy and Property Issues for a Familial Cancer Service

Approximately 1 in 30 people develop cancer due to an underlying familial predisposition. Genetic counselling and testing for people with (and at risk of) familial cancer are becoming more widely available, but service providers need to address challenging issues in relation to privacy and property. As in any counselling situation, a genetic counsellor seeks to ensure that the principles of autonomy, confidentiality, beneficence, and equity operate in favour of the client. But in dealing with a familial disorder, the application of these principles to the individual must be balanced with the potential for these principles to apply to other family members. This paper summarises the recent experience of a familial cancer service in seeking to avoid situations in which these principles, operating for both individual clients and their relatives, can come into conflict.     

临床医生在基因检测咨询中面对伦理两难问题态度与选择 ——基于情景案例分析

目的 通过情景案例分析,聚焦基因检测咨询中的伦理两难事件,探究临床医生的伦理道德抉择及可能的影响因素。 方法 采用分层随机抽样方法,对624名临床医生进行了匿名问卷调查。 结果 对于XY染色体女性案件,88%的应答者选择告知敏感性信息;对于父系信息的披露,近60%的应答者选择单独告诉母亲;对于是否告知患儿其他亲属相关遗传病信息的案件,应答者的意见则相对分散。 结论 针对三个典型的基因检测咨询中的伦理两难问题,应结合国际相关指南的要求,进一步加大相关的法律与伦理理念、知识的教育与普及。     

Risk reduction and health promotion behaviors following genetic testing for adult-onset disorders

Although clinical genetic testing is available for over 1,000 inherited disorders, consequences of predictive genetic testing have been most extensively examined for hereditary breast and ovarian cancer (HBOC), hereditary colon cancer, and Huntington disease (HD). These focus primarily on psychological, ethical, legal, and social aspects of genetic testing. Genetic testing may also provide information that can lead to behaviors that promote health and reduce risk for disease, reflecting options available for the disorder for which the person is at risk. However, regardless of condition, people completing a genetic test may inform relatives about the results of the test and implications for their risk to develop the condition. Literature on risk reduction behaviors and communication focuses on families with HBOC or colorectal cancer. Few reports document behaviors for other conditions. This paper presents a systematic review of the research literature on risk reduction and health promotion behaviors following clinical genetic testing for adult onset conditions, primarily HBOC, familial colon cancers, and HD. Insights gleaned from this review are discussed as a basis for planning monitoring of health promotion and risk-reduction behaviors for genetic testing for present and future use.     

Accuracy of cancer family histories: comparison of two breast cancer syndromes

Cancer risk programs rely on accurately reported family history information. This study compares the accuracy with which cancer sites and ages at diagnosis are reported by Li-Fraumeni syndrome (LFS) and hereditary breast-ovarian cancer syndrome (HBOCS) families undergoing genetic testing. We analyzed the accuracy of 191 cancer diagnoses among first-degree (FDRs) and second-degree (SDRs) relatives reported by 32 LFS and 52 HBOCS participants in genetic testing programs. Cancer diagnoses of relatives were more accurately reported in the HBOCS cohort (78%) than in the LFS cohort (52%). Almost all breast cancer diagnoses were accurately reported, whereas 74% of ovarian cancer diagnoses and only 55% of other LFS-related cancers were accurately reported. Age at diagnosis was accurate within 5 years for 60% of LFS relatives and 53% of HBOCS relatives. Factors correlating with accurate reporting of cancer history included: being member of BRCA1 family, higher education level, female historian, degree of closeness to affected relative, and having fewer than 5 affected FDRs and SDRs. Relying on verbal histories would not have altered eligibility for genetic testing among HBOCS historians, but fewer than half of LFS historians provided information that would have led to TP53 testing. Our data suggest that it may not be necessary to confirm breast cancer diagnoses routinely; however, documentation of other cancer types remains important for appropriate risk assessment and follow-up.     

Society and ethics - the genetics of disease

Established guidance for the protection of human subjects in research has provided the framework for research and clinical practice in genetics. Three key principles to emerge are the requirements for consent, privacy and confidentiality. However, recent research on genetic susceptibility to common diseases indicates that it may be more difficult to decide if and when genetic testing will be appropriate. Risks of disease may be low and interventions may not be available. Today, debate is primarily focussed on ethical issues raised by the use and storage of genetic information. One of the earliest experiences of genetic testing for some people is likely to be in the area of pharmacogenetics. Debate about ethical issues has been focused on the implications of patient stratification, particularly with regard to the availability of medicines for small groups and the significance of racial variation in response to medicines. The possible use of personal genetic information by insurance companies and employers has also been an issue that legislators have taken seriously.     

SHOULD CHILDREN AND ADOLESCENTS BE TESTED FOR HUNTINGTON’S DISEASE? ATTITUDES OF FUTURE LAWYERS AND PHYSICIANS IN SWITZERLAND

The objective of the study was to identify future lawyers' and physicians' views on testing children for Huntington's disease (HD) against parents' wishes. After receiving general information about HD, patient autonomy and confidentiality, law students and advanced medical students were shown an interview with a mother suffering from HD who is opposed to informing and testing her two children (aged 10 and 16) for HD. Students then filled out questionnaires concerning their agreement with testing. No significant differences were found between medical and law students or between students from different courses concerning the adolescent son. Three quarters of students thought that he should be told about his mother's disease, and 91% thought the adolescent son should have the opportunity of genetic testing for HD himself. However, significant differences were found concerning the 10-year old son, with 44% of law students and 30% of medical students in favour of testing the child for HD. Students raised some important ethical issues in their elective comments. In conclusion, we found highly positive attitudes towards informing a 16-year old of his mother's HD and offering to test him. These attitudes were not in tune with guidelines. Students did not consider several practical and ethical issues of genetic testing of children and adolescents. Specific education should ensure that attitudes are based on sufficiently detailed knowledge about all aspects of genetic testing of children to discourage pressures on persons at risk of HD.     

Opinion: predictive testing for Huntington disease in childhood: challenges and implications.

Predictive testing for HD strongly highlights the need for autonomy and the need for each individual to decide about his or her willingness-or unwillingness-to obtain genetic information predictive of the future outcome. In respect of this principle, testing for minors should not be offered at the request of a third party, and prenatal testing which would result in the birth of a child at increased risk for HD should, where possible, be avoided. If we accede to the wishes of the parents for their children to be tested, we will have broken the primary principles of confidentiality, privacy, and individual justice that are owed to those children. This could be the thin edge of a wedge which could result in adoption agencies, educational institutions, insurance companies, and other third parties demanding genetic testing for another individual. Despite years of careful planning, predictive testing for HD is turning out to be more complex and challenging than ever expected. We need a great deal of care and concern in developing our response to this challenge. Careful long-term assessment and documentation of the impact of such testing is needed, so that the appropriate guidelines can be developed, guidelines which both protect families with HD and at the same time give individuals the opportunity to participate in predictive testing programs.