Duty to warn at-risk relatives for genetic disease: genetic counselors' clinical experience

When a patient refuses to inform relatives of their risk for genetic disease, the genetic healthcare professional is faced with conflicting ethical obligations. On one side of the issue is the obligation to respect and protect patients' right to privacy. On the other side is the obligation to prevent harm and promote the welfare of the family members, which suggests a responsibility to warn at-risk relatives, even without the patient's consent. In an effort to examine the actual clinical impact of this issue, we conducted a pilot study that explored genetic counselors' experience with this conflict. A survey was developed and made available to members of the National Society of Genetic Counselors. Questions were either multiple-choice responses or open-ended. Almost half of respondents (119/259; 46%) had had a patient refuse to notify an at-risk relative. The most commonly cited reasons for refusal were estranged family relationships, altering family dynamics, insurance discrimination, and employment discrimination, respectively. Of these 119 counselors, 24 (21%) reported that they seriously considered warning the at-risk relatives without patient consent, and one actually did disclose. Three factors consistently made the counselors less likely to disclose: their patient's potential emotional reaction, the relationship between the relative and patient, and the chance that the relative could be aware of the disease by another means. These results suggest that while the conflict is often encountered in clinical practice, it is rare that the situation remains unresolved to the extent that genetic counselors actually consider warning at-risk relatives. However, when the situation was encountered, the counselors in this study reported a lower rate of disclosure without consent than would have been anticipated based on previous studies that used hypothetical situations. It may be that counselors do not recognize a duty to warn at-risk relatives as integral to their role and professional obligations.     

Medical Geneticists' duty to warn at-risk relatives for genetic disease

A patient who refuses to notify their relatives of potential at-risk status brings a genetics provider to face conflicting ethical principles and ill-defined legal precedent. Genetics professionals' views on the disclosure of patient information to at-risk relatives have remained largely unexamined. Prior analyses have been limited to identifying factors contributing to genetics providers' self-predicted responses in hypothetical scenarios. Our group was the first to examine the clinical experience of genetic counselors with this issue [Dugan et al., 2003]. We report here results from our follow-up survey of medical geneticists who are members of either the American Society of Human Genetics and/or American College of Medical Genetics in an effort to identify their experiences in warning at-risk relatives and the factors driving their decision-making processes. Over two-thirds of medical geneticists surveyed (69%, 143/206) believe they do bear responsibility to warn their patients' relatives when found to be at-risk for genetic disease. One-quarter (25%, 31/123) of medical geneticists who faced the dilemma of a patient refusing to notify their at-risk relatives seriously considered disclosure to those at-risk relatives without patient consent. Only four respondents proceeded to warn at-risk relatives of their status. Whereas genetic counselors cited emotional issues as playing a primary role in their decision not to warn, medical geneticists identified patient confidentiality, eventual case resolution by other means, and legal liability as the major factors leading to non-disclosure in 76% of actual scenarios. Responsibilities of medical geneticists, genetic counselors, and non-genetics healthcare professionals facing this issue will need to be more clearly defined to provide optimal medical care within the bounds of acceptable practice.     

Disclosing genetic information to family members without consent: Five Australian case studies

Genetic risk information is relevant to individual patients and also their blood relatives. Health practitioners (HPs) routinely advise patients of the importance of sharing genetic information with family members, especially for clinically actionable conditions where prevention is possible. However, some patients refuse to share genetic results with at-risk relatives, and HPs must choose whether to use or disclose genetic information without consent. This requires an understanding of their legal and ethical obligations, which research shows many HPs do not have. A recent UK case held that HPs have a duty to a patient's relatives where there is a proximate relationship, to conduct a balancing exercise of the benefit of disclosure of the genetic risk information to the relative against the interest of the patient in maintaining confidentiality. In Australia, there is currently no legal duty to disclose genetic information to a patient's at-risk relatives, but there are laws and guidelines governing unconsented use/disclosure of genetic information. These laws are inconsistent across different Australian states and health contexts, requiring greater harmonisation.Here we provide an up-to-date and clinically accessible resource summarising the laws applying to HPs across Australia, and outline five Australian case studies which have arisen in clinical genetics services, regarding the disclosure of genetic results to relatives without consent. The issues addressed here are relevant to any Australian HP with access to genetic information, as well as HPs and policy-makers in other jurisdictions considering these issues.     

Sudden death: ethical and legal problems of post‐mortem forensic genetic testing for hereditary cardiac diseases

Elger BS, Michaud K, Fellmann F, Mangin P. Sudden death: ethical and legal problems of post‐mortem forensic genetic testing for hereditary cardiac diseases. Hereditary non‐structural diseases such as catecholaminergic polymorphic ventricular tachycardia (CPVT), long QT, and the Brugada syndrome as well as structural disease such as hypertrophic cardiomyopathy (HCM) and arrhythmogenic right ventricular cardiomyopathy (ARVC) cause a significant percentage of sudden cardiac deaths in the young. In these cases, genetic testing can be useful and does not require proxy consent if it is carried out at the request of judicial authorities as part of a forensic death investigation. Mutations in several genes are implicated in arrhythmic syndromes, including SCN5A, KCNQ1, KCNH2, RyR2, and genes causing HCM. If the victim's test is positive, this information is important for relatives who might be themselves at risk of carrying the disease‐causing mutation. There is no consensus about how professionals should proceed in this context. This article discusses the ethical and legal arguments in favour of and against three options: genetic testing of the deceased victim only; counselling of relatives before testing the victim; counselling restricted to relatives of victims who tested positive for mutations of serious and preventable diseases. Legal cases are mentioned that pertain to the duty of geneticists and other physicians to warn relatives. Although the claim for a legal duty is tenuous, recent publications and guidelines suggest that geneticists and others involved in the multidisciplinary approach of sudden death (SD) cases may, nevertheless, have an ethical duty to inform relatives of SD victims. Several practical problems remain pertaining to the costs of testing, the counselling and to the need to obtain permission of judicial authorities.     

Reconsidering the duty to warn genetically at-risk relatives

The duty to warn genetically at-risk relatives of patients is one of the most misunderstood legal and ethical issues affecting clinical genetics. The legal doctrines are often associated with three state appellate court cases beginning in the mid-1990s. Since the HIPAA Privacy Rule went into effect in 2003, the duty to warn must be accomplished by warning the patient of the genetic nature of a diagnosed disorder or genetic risk and the necessity of warning at-risk relatives. Health-care providers are neither required nor permitted to warn at-risk relatives without the consent of their patients. Having warnings issued by the patient most closely aligns with traditional ethical principles and the interests of the parties. Physicians and other health-care providers can assist their patients by preparing jargon-free explanations of the genetic risk and offering consultation or referral services. In the future, the need for warnings is less likely to be triggered by diagnoses and more likely to be based on predictive information derived from genome sequencing and other technologies and data sources.     

Should healthcare providers have a duty to warn family members of individuals with an HNPCC‐causing mutation? A survey of patients from the Ontario Familial Colon Cancer Registry

Background

As genetic testing becomes more common and increasingly intertwined with medical care, the issues of genetic privacy and doctor–patient confidentiality are being examined. Hereditary non‐polyposis colorectal cancer (HNPCC) is a genetic predisposition to colorectal and certain other cancers. Effective screening that can prevent colorectal cancer is an important incentive for genetic testing.

Methods

A survey regarding the duty to warn family members of the risks associated with an HNPCC‐causing mutation was mailed to 227 participants in the Ontario Familial Colon Cancer Registry (OFCCR). To our knowledge, the opinions of patients on this subject have not been reported previously in the literature. Responses were analysed quantitatively using the SAS system and qualitatively by the review of written comments.

Results

Completed surveys were returned by 105 participants, with a response rate of 46.3%. The majority felt a personal responsibility to warn relatives, but there was no significant agreement that doctors or genetic counsellors should have a duty to warn relatives without a patient''s permission.

Conclusions

Patients undergoing genetic testing for HNPCC generally understand that relatives could benefit from being informed of genetic risk, but may not be willing or able to inform each family member. Healthcare professionals should engage patients in a discussion of familial implications before genetic testing. An agreement should be formulated regarding which of the relatives should be informed. Patients should be encouraged to personally disseminate the information, given the unrealistic burden on practitioners to perform this task and patients'' preference for control over the information.Genetic information is distinct from much medical information because of its familial nature¹ and its applicability to predicting future health.² It has been suggested that with increased availability of health‐related genetic information, individuals should be aware of and accept responsibility to share genetic test results with their family members.^3,4,5 If a patient does not inform at‐risk relatives about a genetic condition that could confer serious harm, the duty to warn may potentially be extended to the healthcare provider.^4,6,7 More clarity is needed to define if and when there is a legal and/or ethical duty to warn family members at risk, especially since this violates autonomy and confidentiality and would probably present an impracticable burden to health professionals.Genetic testing should be performed with informed consent after meeting with a genetics professional to discuss risks, benefits and limitations. Certain laws have been enacted to protect genetic privacy.^2,8,9 The Health Insurance Portability and Accountability Act¹⁰ states that “genetic information” cannot be used by health plans for discrimination. As genetic testing continues to provide information relevant to medical care, it will become increasingly difficult, and perhaps less beneficial to patients, to keep the results confidential.Healthcare providers have been encouraged to discuss with patients the implications of disclosing test results to family members during pretest counselling.¹¹ Acceptance of personal responsibility should reduce the risk of disagreements once results are available. Also, previous research has shown that patients prefer to have control over the process of disclosing genetic information to their relatives.⁹The aim of this study was to survey participants of the Ontario Familial Colon Cancer Registry (OFCCR) regarding their duty to warn family members about a hereditary non‐polyposis colorectal cancer (HNPCC)‐causing mutation. The survey was designed to determine opinions about personal responsibility, barriers to communication and the responsibility of health professionals, particularly if the participant was unwilling or unable to inform relatives.     

Outcome evaluations in group decision making using the majority rule: An electrophysiological study

Event‐related brain potential (ERP) reflecting outcome evaluation is called feedback‐related negativity (FRN). The present study examined the evaluative processes for two different types of outcomes by recording ERPs from three participants during a group decision task. First, we examined the evaluative processing of outcomes associated with group decisions using the majority rule. Second, we investigated whether the majority rule influenced the evaluation of conflicts related to individual opinions among group members. We found that FRN for monetary loss associated with the group decision was reduced when the participant's opinion was in the minority. In addition, conflict of opinions among group members elicited FRN‐like negativity, and greater amplitudes were observed when the participant's opinion was in the minority. The present results suggested that the majority rule can modulate outcome evaluations in group decision making.     

Decision‐making for non‐invasive prenatal testing for Down syndrome: Hong Kong Chinese women's preferences for individual vs relational autonomy

Individual autonomy in antenatal screening is internationally recognized and supported. Policy and practice guidelines in various countries place emphasis on the woman's right to make her own decision and are related to concepts such as self‐determination, independence, and self‐sufficiency. In contrast, the dominant perspective in Chinese medical ethics suggests that the family is pivotal in making medical decisions, hence providing support for relational autonomy. This study explored Hong Kong Chinese pregnant women's preferences for individual vs relational autonomy for non‐invasive prenatal testing (NIPT) for Down syndrome. A qualitative study was carried out using semi‐structured interviews with 36 women who had undertaken NIPT in Hong Kong. The findings show that most Hong Kong Chinese women valued aspects of both relational and individual autonomy in decision‐making for NIPT. Women expected support from doctors as experts on the topic and wanted to involve their husband in decision‐making while retaining control over the outcome. Somewhat surprisingly, the findings do not provide support for the involvement of family members in decision‐making for NIPT. The adequacy of current interpretations of autonomy in prenatal testing policies as an individual approach needs discussion, where policy developers need to find a balance between individual and relational approaches.     

Comparing family members' motivations and attitudes towards genetic testing for hereditary breast and ovarian cancer: a qualitative analysis

Genetic testing for hereditary breast and ovarian cancer reveals significant risk information regarding one''s chances of developing cancer that has potential implications for patients and their families. This study reports on the motivations and attitudes of index patients and their relatives towards genetic testing for hereditary breast and ovarian cancer. In total, 10 female index patients and 20 of their relatives were interviewed regarding their experiences of communicating genetic information within their families, and their motivations and attitudes towards genetic testing. The analysis found two types of ‘family groups'': groups strongly committed to genetic testing and groups uncertain about testing. Within committed family groups, index patients and their relatives felt obliged to be tested for others, leading some relatives to be tested without having fully thought through their decision or the implications of knowing their mutation status. These family groups also described considerations in relation to the value of testing for themselves. In family groups uncertain about testing, relatives had not attended for predictive testing, had postponed decision making until some point in the future or had expressed ambivalence about the value of testing for themselves. Results suggest the value of explicitly acknowledging motivations for genetic testing within the context of family obligations, relationships and communication, and the possible value of involving family members in genetic counselling and decision making from a family''s first contact with genetic services.     

Reasonable expectations of privacy in non-disclosure of familial genetic risk: What is it reasonable to expect?

Where there is conflict between a patient's interests in non-disclosure of their genetic information to relatives and the relative's interest in knowing the information because it indicates their genetic risk, clinicians have customarily been able to protect themselves against legal action by maintaining confidence even if, professionally, they did not consider this to be the right thing to do. In ABC v St Georges Healthcare NHS Trust ([2017] EWCA Civ 336) the healthcare team recorded their concern about the wisdom of the patient's decision to withhold genetic risk information from his relative, but chose to respect what they considered to be an unwise choice. Even though professional guidance considers that clinicians have the discretion to breach confidence where they believe this to be justified, (Royal College of Physicians, Royal College of Pathologists and the British Society of Human Genetics, 2006; GMC, 2017) clinicians find it difficult to exercise this discretion in line with their convictions against the backdrop of the legal prioritisation of the duty to maintain confidence. Thus, the professional discretion is not being freely exercised because of doubts about the legal protection available in the event of disclosure. The reliance on consent as the legal basis for setting aside the duty of confidence often vetoes sharing information with relatives. This paper argues that an objective approach based on privacy, rather than a subjective consent-based approach, would give greater freedom to clinicians to exercise the discretion which their professional guidance affords.     

Genetic knowledge and moral responsibility: ambiguity at the interface of genetic research and clinical practice

Despite a rapidly expanding literature on the issue of duty to warn at-risk relatives in the context of clinical genetic testing, little has been written on parallel issues with regard to the management of genetic research results. Some might view this lack as an indication that there is little to discuss in this regard. That is, standard practice is that data obtained through medical research should not be treated as though they are clinically relevant, and this standard should hold for genetic research as well. This paper challenges this conclusion and its underlying assumptions. We argue that the line between genetic research and clinical practice is often ambiguous. In some cases, research data gathered from a very small number of subjects could have immediate clinical implications. Hence, it is unethical for genetic researchers to absolve themselves of clinical responsibilities for research subjects and/or their families, on the grounds that the data were obtained for research purposes. Indeed, we argue that it could well be unethical to embark on some forms of genetic research unless advance arrangements have been made for genetic counseling and clinical follow-up. Furthermore, in some cases, it might be unethical to enroll subjects in studies if the subjects are unwilling to receive their individual results.     

ENGAGING CONFLICT: SUPPORTING POWER‐SHARING THROUGH CONSTRUCTIVE CONFLICT RESOLUTION

Ideally, collaborative work combines multiple stakeholders’ resources and efforts to achieve common goals. Within collaborative settings, people from a variety of backgrounds come together to address complex social issues that are beyond the scope of any single community sector. While shared power in decision making has been established as an important feature of effective collaborative settings, our current understanding of members’ experiences of decision‐making power within such settings is limited. The present study examined data collected from Family Violence Councils to investigate the relationship between members’ perceived decision‐making power, defined as their perceived influence over the direction and agenda of the Council, and member characteristics, perceived levels of Council conflict, and conflict resolution strategies utilized by Councils. Findings from this study indicate that the utilization of “constructive” conflict resolution strategies by Councils may be a key factor to consider in effective facilitation of power sharing among members.     

A systematic review of factors influencing decision-making in adults living with chronic kidney disease

Objective

To identify factors influencing patient involvement in decision-making in the context of chronic kidney disease (CKD) and effective interventions to support their decision-making needs.

Methods

A systematic review included studies and decision support tools that involved: (1) adults with CKD, (2) studies published from 1998–2008; and (3) a focus on patient decision-making needs, and/or barriers and facilitators to shared decision-making. Studies were quality appraised.

Results

Forty studies were appraised. These studies mainly focused on the decisions patients with CKD faced around the choice of renal replacement therapy and withholding/withdrawing dialysis. Moreover, studies typically focused on health care professional's provision of information about the decision rather than identifying decisional conflict and supporting patients in decision-making. No studies were found that identified the patient's point of view about factors that might influence or inhibit quality decision-making. Factors influencing CKD patient's participation in decision included: (1) interpersonal relationships; (2) preservation of current well being, normality and quality of life; (3) need for control; and (4) personal importance on benefits and risks. Of the four patient decision aids identified, none had been evaluated for effectiveness.

Conclusion

Patients with CKD face decisions that are likely to cause decisional conflict. Most studies focused on information needs related to renal replacement therapy and withdrawing or withholding dialysis. There was less focus on other decision-making needs in the context of those choices and across the trajectory of CKD. Although patient decision aids and implementation of shared decision-making have been evaluated in patients with other medical conditions, little is known about interventions to support patients with CKD making quality decisions.

Practice implications

Patients with CKD have decision-making needs across the trajectory of their illness. Although little is known about supporting patients with CKD decision-making, support could be provided with protocols and tools that have been developed for other chronic illness situations. Development of CKD-specific clinical practice guidelines that include decision support best practices could benefit CKD patients. Research priorities include development and evaluation of CKD focused decision support tools and processes.     

The burden of nonadherence among adults with asthma: a role for shared decision‐making

A shared approach to decision‐making framework has been suggested for chronic disease management especially where multiple treatment options exist. Shared decision‐making (SDM) requires that both physician and patients are actively engaged in the decision‐making process, including information exchange; expressing treatment preferences; as well as agreement over the final treatment decision. Although SDM appears well supported by patients, practitioners and policymakers alike, the current challenge is to determine how best to make SDM a reality in everyday clinical practice. Within the context of asthma, adherence rates are poor and are linked to outcomes such as reduced asthma control, increased symptoms, healthcare expenditures, and lower patient quality of life. It has been suggested that SDM can improve treatment adherence and that ignoring patients’ personal goals and preferences may result in reduced rates of adherence. Furthermore, understanding predictors of poor treatment adherence is a necessary step toward developing effective strategies to improve the patient‐reported and clinically important outcomes. Here, we describe why a shared approach to treatment decision‐making for asthma has the potential to be an effective tool for improving adherence, with associated clinical and patient‐related outcomes. In addition, we explore insights into the reasons why SDM has not been implemented into routine clinical practice.     

Secondary uses and the governance of de-identified data: Lessons from the human genome diversity panel

Background

The Albanian medical system and Albanian health legislation have adopted a paternalistic position with regard to individual decision making. This reflects the practices of a not-so-remote past when state-run facilities and a totalitarian philosophy of medical care were politically imposed. Because of this history, advance directives concerning treatment refusal and do-not-resuscitate decisions are still extremely uncommon in Albania. Medical teams cannot abstain from intervening even when the patient explicitly and repeatedly solicits therapeutic abstinence. The Albanian law on health care has no provisions regarding limits or withdrawal of treatment. This restricts the individual's healthcare choices.

Discussion

The question of 'medically futile' interventions and pointless life-prolonging treatment has been discussed by several authors. Dutch physicians call such interventions 'medisch zinloos' (senseless), and the Netherlands, as one of the first states to legislate on end-of-life situations, actually regulates such issues through appropriate laws. In contrast, leaving an 'advance directive' is not a viable option for Albanian ailing individuals of advanced age. Verbal requests are provided during periods of mental competence, but unfortunately such instructions are rarely taken seriously, and none of them has ever been upheld in a legal or other official forum.

Summary

End-of-life decisions, treatment refusal and do-not-resuscitate policies are hazardous options in Albania, from the legal point of view. Complying with them involves significant risk on the part of the physician. Culturally, the application of such instructions is influenced from a mixture of religious beliefs, death coping-behaviors and an immense confusion concerning the role of proxies as decision-makers. Nevertheless, Albanian tradition is familiar with the notion of 'amanet', a sort of living will that mainly deals the property and inheritance issues. Such living wills, verbally transmitted, may in certain cases include advance directives regarding end-of-life decisions of the patient including refusal or termination of futile medical treatments. Since these living wills are never formally and legally validated, their application is impossible and treatment refusal remains still non practicable. Tricks to avoid institutional treatment under desperate conditions are used, aiming to provide legal coverage for medical teams and relatives that in extreme situations comply with the advice of withholding senseless treatment.     

Review of patient decision‐making factors and attitudes regarding preimplantation genetic diagnosis

The increasing technical complexity and evolving options for repro‐genetic testing have direct implications for information processing and decision making, yet the research among patients considering preimplantation genetic diagnosis (PGD) is narrowly focused. This review synthesizes the literature regarding patient PGD decision‐making factors, and illuminates gaps for future research and clinical translation. Twenty‐five articles met the inclusion criteria for evaluating experiences and attitudes of patients directly involved in PGD as an intervention or considering using PGD. Thirteen reports were focused exclusively on a specific disease or condition. Five themes emerged: (1) patients motivated by prospects of a healthy, genetic‐variant‐free child, (2) PGD requires a commitment of time, money, energy and emotions, (3) patients concerned about logistics and ethics of discarding embryos, (4) some patients feel sense of responsibility to use available technologies, and (5) PGD decisions are complex for individuals and couples. Patient research on PGD decision‐making processes has very infrequently used validated instruments, and the data collected through both quantitative and qualitative designs have been inconsistent. Future research for improving clinical counseling is needed to fill many gaps remaining in the literature regarding this decision‐making process, and suggestions are offered.     

How does The Journal of Pathology deal with conflict of interest?

Here we outline the approach of The Journal of Pathology to the issue of conflict of interest. We aspire to have a fair and transparent review process where conflict of interest or prejudice does not influence the review and decision‐making process, such that readers can be confident of the objectivity of peer‐review and reliability of content. Transparency and openness from all involved is the cornerstone of this and our processes are intended to prevent, as far as is possible, financial, personal, intellectual, professional, political, religious, racial, gender‐related or other conflicts of interest affecting our peer‐review. Copyright © 2009 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.     

Evaluating stakeholder's perspective on referred out genetic testing in Canada: a discrete choice experiment

The expanding number and increasing utility of clinical genetic tests is creating a growing burden on the Canadian healthcare system. Administrators are faced with the challenge of determining which genetic tests should be publicly funded. A discrete choice experiment (DCE) was utilized to assess the importance stakeholders place on five attributes of a genetic test. One hundred ninety individuals completed the DCE questions. Analysis of the data revealed that medical benefit of a test had the greatest impact on a respondent's decision to select a test for funding. The detection rate of the test ranked second in importance followed by severity of the condition, aim of the test, and cost. With limited resources available for referred out molecular genetic testing within a public healthcare setting such as Canada's, funding guidelines are critical. Our findings provide further evidence for the value of a decision‐making framework and the relative importance of specific test attributes within such a framework.     

Validation of CollaboRATE and SURE – two short questionnaires to measure shared decision making during CPAP initiation

Adherence to continuous positive airway pressure (CPAP) treatment tends to be low. Brief validated instruments focusing on shared decision making have not been used in a CPAP context. The aim was to investigate factorial structure, categorical functioning of the response scale and differential item functioning across sub‐populations of the CollaboRATE and Sure questionnaires among patients with obstructive sleep apnea (OSA) before CPAP treatment is initiated. A prospective design, including 193 objectively diagnosed (polygraphy) OSA patients (68% men, 59.7 years, SD 11.5) from two CPAP clinics was used. Data were collected with the following questionnaires; Sure, CollaboRATE, Attitudes to CPAP Inventory, Epworth sleepiness scale, minimal insomnia symptoms scale, and hospital anxiety and depression scale. Objective CPAP use was collected after 6 months; 49% demonstrated decisional conflict on SURE and 51% scored low levels of shared decision making on CollaboRATE. Unidimensionality was found for both CollaboRATE (one factor explaining 57.4%) and SURE (one factor explaining 53.7%), as well as local independence. Differential item functioning showed both to be invariant across both male and female patients. Internal consistency (Cronbach's alpha 0.83) and composite reliability (0.89) were good. Latent class analyses showed that patients with low decisional conflict and high shared decision making were more adherent to CPAP treatment. CollaboRATE and SURE provided good validity and reliability scores to measure shared decision making and decisional conflict in relation to CPAP treatment. The questionnaires can be used by healthcare personnel as a tool to simplify the assessment of shared decision making.