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.     

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.     

The Disclosure of Genetic Information: A Human Research Ethics Perspective

Increasing emphasis on genetic research means that growing numbers of human research projects in Australia will involve complex issues related to genetic privacy, familial information and genetic epidemiology. The Office of Population Health Genomics (Department of Health, Western Australia) hosted an interactive workshop to explore the ethical issues involved in the disclosure of genetic information, where researchers and members of human research ethics committees (HRECs) were asked to consider several case studies from an ethical perspective. Workshop participants used a variety of approaches to examine the complex ethical issues encountered, but did not consistently refer to the values and principles outlined in the National Statement on Ethical Conduct in Human Research (NHMRC 2007) or apply rational ethical approaches. Overall, the data suggested that both researchers and HREC members may benefit from further education and support regarding the application of ethical frameworks to the issues encountered in genetic research.     

FURTHERING INJUSTICES AGAINST WOMEN: GENETIC INFORMATION, MORAL OBLIGATIONS, AND GENDER

The purpose of this paper is to show that a decontextualized approach to ethical issues is not just unhelpful for the decision making process of real, situated human beings, but dangerous. This is so, because by neglecting the context in which people make moral decisions we run the risk of reinforcing or furthering injustices against already disadvantaged groups. To show this, I evaluate three moral obligations that our ability to obtain genetic information has made salient: the duty to obtain genetic information about ourselves, the obligation to inform family members about genetic risks and the duty not to reproduce when we know that there is a high risk of transmitting a serious disease or defect. I will argue here that in ignoring the context in which these moral obligations are put into practice, and in particular the situation of women in our society, those who defend these moral duties might be furthering injustices against women.     

Disclosure of personal medical information: differences among parents and affected adults for genetic and nongenetic conditions

Protecting the confidentiality of medical information has been an issue of great interest in the fields of bioethics, public policy, and law. Few empirical studies have addressed patient experiences and attitudes toward disclosure of private medical information in multiple contexts such as health insurance, employment, and the family. Furthermore, it is unclear whether differences exist in experiences and attitudes about privacy between those living with a serious medical condition versus those who have a child with a medical condition. The study sought to determine whether attitudes and experiences related to medical privacy and confidentiality differ between affected adults and parents of affected children. Interviews were conducted with 296 adults and parents of children with sickle cell disease (SCD), cystic fibrosis (CF), or diabetes mellitus (DM). This cross-sectional study collected data regarding their experiences, attitudes, and beliefs concerning medical privacy and confidentiality. Multinomial logistic regression analysis was conducted on quantitative data. Qualitative analysis was conducted on data from open-ended response items. Parents disclose their child's diagnosis to others more often than affected adults disclose their own disease status. Parents are less likely than affected adults to regret their disclosure, to hope others do not find out, to have been pressured to share information, and to be asked about their disease by employers. Affected adults express greater concern about disclosure, a greater prevalence and greater fear of discrimination, and experience greater pressure from family members to disclose. Clinicians and researchers working with these populations should consider these differences in privacy and disclosure. Further study is necessary to examine the implications of these differences in attitudes and experiences concerning insurance, employment, and social interactions among persons with these conditions.     

Privacy and disclosure in medical genetics examined in an ethics of care

The progress of genetic knowledge magnifies existing ethical problems in medical genetics. Among the most troubling types of problems -- for medicine, patients, and the larger society -- are those of privacy and disclosure. Examples of the range of problems involving privacy and disclosure are: 1) disclosure of false paternity to an unsuspecting husband; 2) disclosure of a patient's genetic make-up to his or her unknowing spouse; 3) disclosure of information, against a patient's wishes, to relatives at genetic risk; 4) disclosure of ambiguous test results; 5) disclosure of adventitious nonmedical information, e.g., fetal sex; and 6) disclosure to institutional third parties, such as employers and insurers....     

Gender differences in attitudes among those at risk for Huntington's disease

This report presents and discusses selected findings regarding gender differences from an Australian-based study that investigated attitudes of individuals at risk for Huntington's disease (HD) towards genetic risk and predictive testing. Clear gender differences emerged regarding perceived coping capacity with regard to predictive testing, as well as disclosure of the genetic risk for HD to others. Female participants were more likely to disclose their genetic risk to others, including their medical practitioners, while male participants were three times more fearful of disclosing their genetic risk to others. These findings are of interest in light of gender differences that have consistently been reported regarding the uptake of predictive testing for HD, other genetic conditions, and health services more generally. While gender differences cannot provide a fully explanatory framework for differential uptake of predictive genetic testing, men and women may experience and respond differently to the genetic risk for HD and possibly other inherited disorders. The meanings of genetic risk to men and women warrants further exploration, given anticipated increases in genetic testing for more common conditions, especially if post-test interventions are possible. These issues are also relevant within the context of individuals' concerns about the potential for discrimination on the basis of genetic risk or genetic test information.     

Voluntary disclosure of BRCA1 mutation test results

This study assessed the probability that individuals tested for a BRCA1 gene mutation share their test results with family members, co-workers, and insurers. Members of a large kindred known to be at-risk for carrying a BRCA1 gene mutation were tested and they learned their results from a genetic counselor. During a follow-up interview, 4 months later, subjects were asked with whom they had shared their results. Respondents were most likely to have communicated results to family members, followed by co-workers, and insurers. Carrier status affected their willingness to disclose results to insurers. High rates of disclosure to family members should promote awareness of hereditary cancer risk. Selective disclosure to co-workers and insurers may promote information asymmetries that could affect employment and insurance markets.     

Huntington's disease: prediction and prevention

The identification of a DNA restriction fragment length polymorphism closely linked to Huntington's disease on the short arm of chromosome 4 has for the first time allowed presymptomatic prediction to be undertaken in first-degree relatives at risk. The late and variable onset of this dominantly inherited disorder makes such prediction a powerful and potentially valuable aid in genetic counselling, but in the absence of effective therapy there are serious ethical reservations concerning such a predictive test. The new developments have stimulated an active and informative debate among professionals and family members on whether and how predictive tests should be used. Guidelines have emerged which should be useful not only for Huntington's disease, but for other serious late-onset neurogenetic disorders. Meanwhile, studies in Wales and elsewhere have not only confirmed the original linkage but have excluded multi-locus heterogeneity as a significant problem. Genetic prediction for the individual at risk remains critically dependent on a suitable family structure, present in only a minority of families in Wales. A more feasible alternative for most families is prenatal exclusion, which can allow risk prediction for a pregnancy without altering the situation for the person at risk. This approach has already been applied in Wales; the experience gained will be useful in full prediction, which is currently being introduced.     

Hereditary nonpolyposis colorectal cancer family members' perceptions about the duty to inform and health professionals' role in disseminating genetic information

This study's aim was to ascertain hereditary nonpolyposis colorectal cancer (HNPCC) families' views on the duty to inform with particular focus on the role of health professionals in disseminating familial genetic information. Eighty members of 16 families with a clinical or molecular diagnosis of HNPCC completed qualitative interviews regarding views on family members' right to know and who should disseminate familial genetic information. Most indicated that everyone in the family should know about the presence of a mutation in the family, with family members themselves being the preferable informant, supported by health professionals who were seen as helpful in overcoming barriers. All but one respondent indicated that if a parent did not test and presumably did not inform his/her child about the family mutation, the child should be informed by other family members or by a health professional. Many were attuned to confidentiality concerns, but judged them to be outweighed by the importance of family members knowing about the mutation and undertaking proper surveillance. Respondents were more private about the disclosure of individual results to other family members, clearly distinguishing personal results from familial genetic information. These families with a hereditary colon cancer syndrome favor open sharing of genetic information within the family, and desire the supportive involvement of health care professionals in disseminating genetic information.     

Legal obligation of physicians to disclose information to patients.

Obtaining a patient''s consent is a routine daily process for physicians, although many are unaware of the scope of this legal obligation. In 1980 the Supreme Court of Canada changed the law relating to informed consent; promotion of patient autonomy shifted the focus from a standard of professional disclosure to one of a "reasonable patient." Physicians have a legal obligation to disclose to patients specific information, the scope of which is determined by a court on the basis of a reasonable patient''s expectation and the circumstances of the case. This gives rise to many controversies in the practice of clinical medicine. It is difficult for physicians to know which treatment risks require disclosure, since this is decided by a court in a retrospective analysis of the evidence. Will the court recognize exceptions to the duty of disclosing information? If several health care professionals are involved in a patient''s care who has the duty to disclose information? Can this duty be delegated? This paper provides physicians with guidelines that are consistent with the promotion of patient autonomy and comply with the doctrine of informed consent. In addition, it suggests ways of improving awareness of the doctrine and procedures to ease its application.     

Communication of Genetic Information within Families: The Case for Familial Comity

Advances in genetic technologies raise a multitude of ethical issues, some of which give rise to novel dilemmas for medical practice. One of the most controversial problems arising in clinical genetics is that of confidentiality and who may disclose genetic health information. This paper considers the question of when it is appropriate for health professionals to disclose clinically significant genetic information without patient consent. Existing ethical principles offer little guidance in relation to this issue. We build on suggestions that genetic information may be viewed as collective or shared information, and we introduce the concept of ‘familial comity’ as a fresh way to consider the issues.Competing Interests: None declared. Funding: No special funding was secured for this research.     

Presymptomatic testing for late-onset genetic disorders: lessons from Huntington's disease.

Huntington's disease is an inherited, neurodegenerative disorder, usually of adult onset. Since the identification of linked markers, more than 1000 presymptomatic tests have been performed worldwide and multiple ethical issues have been encountered in relation to informed consent, testing of children, exclusion testing during pregnancy, and confidentiality. Further ethical problems are anticipated after identification of the causal mutation (or mutations). As Huntington's disease is a model for other disorders of adult onset for which testing is becoming possible, the successful resolution of these ethical issues is of great importance. A failure to do so might discredit genetic testing as a whole.     

'Hitting you over the head': oncologists' disclosure of prognosis to advanced cancer patients

The disclosure of prognosis to terminally ill patients has emerged as a recent concern given greater demands for patient involvement in medical decision-making in the United States. As part of the informed consent process, American physicians are legally and ethically obligated to provide information to such patients about the risks, benefits, and alternatives of all available treatment options including the use of experimental therapies. Although not legally required, the disclosure of a terminal prognosis is ethically justified because it upholds the principle of self-determination and enables patients to make treatment decisions consistent with their life goals. To understand oncologists' attitudes about disclosing prognostic information to cancer patients with advanced disease, we interviewed fourteen oncologists and conducted one focus group of medical fellows. Although oncologists reported to disclose prognosis in terms of cancer not being curable, they tend to avoid using percentages to convey prognosis. Oncologists' reported reluctance to disclosing prognosis was conveyed through the use of metaphors depicting the perceived violent impact of such information on patients. Oncologists' reluctance to disclose prognosis and preserve patient hope are held in check by their need to ensure that patients have 'realistic expectations' about therapy. We discuss these data in light of the cultural, ethical, and legal dimensions of prognosis disclosure, patient hope and the doctor–patient relationship, and recommend ways to enhance the communication process.     

Ethical,Legal, and Clinical Considerations when Disclosing a High‐Risk Syndrome for Psychosis

There are complex considerations when planning to disclose an attenuated psychosis syndrome (APS) diagnosis. In this review, we evaluate ethical, legal, and clinical perspectives as well as caveats related to full, non‐ and partial disclosure strategies, discuss societal implications, and provide clinical suggestions. Each of the disclosure strategies is associated with benefits as well as costs/considerations. Full disclosure promotes autonomy, allows for the clearest psychoeducation about additional risk factors, helps to clarify and/or correct previous diagnoses/treatments, facilitates early intervention and bolsters communication between providers but there are important considerations involving heritability, comorbidity, culture, and stigma. Non‐disclosure advances nonmaleficence by limiting stigma and stress (which may inadvertently exacerbate the condition), and confusion (related to the rapidly evolving diagnosis) in a sensitive developmental period but is complicated by varying patient preferences and the possibility that, as new treatments without adverse effects become available, the risk with false positives no longer justifies the accompanying loss of autonomy. Partial disclosure balances ethical considerations by focusing on symptoms instead of labels, but evidence that laypersons may interpret this information as a pseudo‐diagnosis and that symptoms alone also contribute to stigma limits the efficacy of this approach. In addition, there are notable societal considerations relating to disclosure involving conservatorship, the reach of insurance companies, and discrimination. We advocate a hybrid approach to disclosure and recommend future research aimed at understanding the effects of stigma on clinical course and a renewed focus on those help‐seeking cases that do not transition but remain clinically relevant.     

Biobanking and deceased persons

Early biomedical research focused primarily on the study of specific diseases or sets of diseases within small groups of living research participants. Accordingly, the first ethical frameworks governing biomedical research addressed short-term, limited-scope research involving living research participants. Due to recent interest in longitudinal population studies and biobanking, research is increasingly long term. This shift raises several ethical and legal issues concerning the impact of a participant’s death on research. This paper offers an overview of these issues in the context of longitudinal biobanking genetic research. Our first part outlines the legal and ethical frameworks that govern the effect of the participants’ death on consent. This will be followed by an analysis of the legal and ethical frameworks that govern the secondary use of deceased participants’ data and samples and the return of deceased participants’ individual research results to biological family members. In our second part, we will review the current literature and discuss the above mentioned issues using the bioethics “principlism” theory before concluding.     

Genetic predictive testing for bowel cancer predisposition: the impact on the individual.

When considering the impact of a genetic diagnosis of hereditary predisposition to colon cancer, there are many similarities to other predictive genetic tests, but also many differences. The development and availability of such genetic diagnoses, and the concept of testing being linked to effective prevention, have advanced rapidly, opening up not only unique opportunities but also unique psychosocial situations for the affected families-and unusual ethical issues for the professional. Compared to a diagnosis of sporadic colorectal cancer for a patient, hereditary colorectal cancer requires an understanding of genetics, heredity, and the attendant mathematics of risk calculation, but, most importantly, there must be a belief that it is possible to remain healthy whilst having an increased risk. This paper outlines the possible impact of a genetic diagnosis of hereditary non-polyposis colorectal cancer (HNPCC) or familial adenomatous polyposis (FAP) on both the individual and the family and concludes that genetic testing should be accompanied by genetic counseling. Relevant ethical issues are also introduced, with the opinion presented suggesting that if primary considerations are always for the individual rather than the family or society, then unethical or eugenic decisions are likely to be avoided.     

A computer model to simulate family history of breast/ovarian cancer in BRCA1 mutation carriers

The BRCA1 gene and its relationship to family history of breast/ovarian cancer are difficult to study in a population because of practical and ethical issues. The paucity of information on BRCA1 in the general population was a major theme in a recent review of genetic testing in Canada. We develop a simulation model to mimic genetic inheritance and cancer incidence in the family of someone with a germline BRCA1 mutation. Given someone's age and family structure, our model simulates his or her family history in three steps: (1) determine which family members have the mutation, (2) determine the ages of family members and (3) determine which family members have breast/ovarian cancer. Each step involves random variation. Some parameters in our model are estimated using local (British Columbia, Canada) population data. The breast/ovarian cancer risk associated with BRCA1 mutations is estimated using values published in the literature. An example is provided to illustrate the model's application. The model incorporates results from genetics, demography and epidemiology, but requires several additional assumptions. Research to address these assumptions is recommended.     

Ethical concerns in the research and treatment of complex disease

Research on and treatment of complex diseases raise familiar ethical issues concerning informed consent, privacy, confidentiality, insurability, employability and social stigma. Consideration of the family as the unit of study, or point of medical intervention, presents some additional twists to these common ethical concerns. In addition, complex diseases present particular ethical challenges because different social and political incentives accompany placing emphasis on either the genetic or the environmental components of the diseases (e.g. in allocating research funds or ascribing responsibility for illness).     

Patient Perspectives on the Experience of Being Newly Diagnosed with HIV in the Emergency Department/Urgent Care Clinic of a Public Hospital

We sought to understand patient perceptions of the emergency department/urgent care (ED/UC) HIV diagnosis experience as well as factors that may promote or discourage linkage to HIV care. We conducted in-depth interviews with patients (n=24) whose HIV infection was diagnosed in the ED/UC of a public hospital in San Francisco at least six months prior and who linked to HIV care at the hospital HIV clinic. Key diagnosis experience themes included physical discomfort and limited functionality, presence of comorbid diagnoses, a wide spectrum of HIV risk perception, and feelings of isolation and anxiety. Patients diagnosed with HIV in the ED/UC may not have their desired emotional supports with them, either because they are alone or they are with family members or friends to whom they do not want to immediately disclose. Other patients may have no one they can rely on for immediate support. Nearly all participants described compassionate disclosure of test results by ED/UC providers, although several noted logistical issues that complicated the disclosure experience. Key linkage to care themes included the importance of continuity between the testing site and HIV care, hospital admission as an opportunity for support and HIV education, and thoughtful matching by linkage staff to a primary care provider. ED/UC clinicians and testing programs should be sensitive to the unique roles of sickness, risk perception, and isolation in the ED/UC diagnosis experience, as these things may delay acceptance of HIV diagnosis. The disclosure and linkage to care experience is crucial in forming patient attitudes towards HIV and HIV care, thus staff involved in disclosure and linkage activities should be trained to deliver compassionate, informed, and thoughtful care that bridges HIV testing and treatment sites.