Disclosure of genetic risk in the family: A survey of the Flemish general population

ObjectivesResults from genomic sequencing often have implications not just for patients but also for their relatives. To date, there are no studies in Belgium exploring whether potential relatives would want to be informed of a genetic risk in the family and their preferences on different approaches to disclosure.MethodsWe surveyed the attitudes of the Flemish general population (n = 407) towards receiving genetic information from their family members, including attitudes towards breaches in confidentiality, preferences for who communicates genetic risk and how the information is communicated, and policy approaches to nondisclosure.ResultsMost participants wanted to be informed of their genetic risk and receive genetic testing to confirm their diagnosis. Most preferred to be informed of genetic risk by a close family member, but that when given the choice between a distant family member and a clinician, most participants preferred to be contacted by a clinician.ConclusionIn Belgium there is currently no clear legal pathway for clinicians to directly initiate contact with at-risk relatives, but the responses from members of the Flemish population analyzed in this study indicate that this approach to disclosure of genetic risk deserves further consideration. Our findings indicate that the general population would support legislation allowing clinicians to inform relatives even in cases where the patient did not want to inform them. As this is not currently allowed in Belgium, policy alternatives should be considered.     

Attitudes toward the right to autonomous decision‐making in psychiatric genetic testing: Controversial and context‐dependent

Recent breakthroughs in psychiatric genetics have identified genetic risk factors of yet unknown clinical value. A main ethical principal in the context of psychiatric research as well as future clinical genetic testing is the respect for a person's autonomy to decide whether to undergo genetic testing, and whom to grant access to genetic data. However, experience within the psychiatric genetic research setting has indicated controversies surrounding attitudes toward this ethical principal. This study aimed to explore attitudes concerning the right of individuals to self‐determine testing and disclosure of results, and to determine whether these attitudes are context‐dependent, that is, not directly related to the test result but rather to specific circumstances. N = 160 individuals with major depression or bipolar disorder and n = 29 relatives of individuals with either illness completed an online‐questionnaire assessing attitudes toward genetic testing, genetic research, disclosure of results, incidental findings, and access to psychiatric genetic test results. Generally, the right of the person's autonomy was considered very important, but attitudes varied. For example, half of those who considered that children should have the right to refuse psychiatric genetic testing even against their parents' will, also state that they should be tested upon their parents' wishes. Also, the majority of respondents considered the physician entitled to disregard their stated wishes concerning the disclosure of incidental findings in case of good treatment options. Thus, researchers and clinicians must be aware that attitudes toward psychiatric genetic testing are often mutable and should discuss these prior to testing.     

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.     

Mexican geneticists'' opinions on disclosure issues

Here we discuss the opinion on disclosure issues (respect for confidentiality) of Mexican professionals working in clinical genetics. The information was obtained from a comprehensive survey on genetics, ethics and society organized by Wertz and Fletcher in 1993, in which geneticists from 37 nations participated. The responses to 18 questions from 64 of 89 (72%) geneticists invited to participate were analyzed for this paper. The questions were directed to investigate: a) disclosure of clinically relevant information in several situations such as testicular feminization syndrome, mosaic de novo balanced translocation in a fetus, or accidental discovery of non-paternity; b) the protection of patient's privacy from the spouse or blood relatives; and c) confidentiality in cases with high genetic risk to relatives. The results reveal significant disparity between general responses related to disclosure of all clinically relevant information and specific responses in particular cases. In addition, professionals appear to give higher priority to protecting the spouse, blood relatives or public safety, rather than the patient's confidentiality.     

Health-care professionals’ responsibility to patients’ relatives in genetic medicine: a systematic review and synthesis of empirical research

PurposeThe extent of the responsibility of health-care professionals (HCPs) to ensure that patients’ relatives are told of their risk is unclear. Current international guidelines take confidentiality to the individual patient as the default position, but some suggest that disclosure could be default and genetic information could be conceptualized as familial.MethodsOur systematic review and synthesis of 17 studies explored the attitudes of HCPs, patients, and the public regarding the extent of HCPs’ responsibility to relatives with respect to disclosure.ResultsHealth-care professionals generally felt a responsibility to patients’ relatives but perceived a variety of reasons why it would be difficult to act on this responsibility. Public/patient views were more wide-ranging. Participants identified several competing and overlapping arguments for and against HCP disclosure: guidelines do not permit/mandate it, privacy, medical benefit, impact on family dynamics, quality of communication, and respecting autonomy.ConclusionWe argue that HCPs can sometimes share genetic information without breaching confidentiality and that they could factor into their considerations the potential harm to family dynamics of nondisclosure. However, we need more nuanced research about their responsibilities to relatives, particularly as genomic tests are used more frequently in clinical practice.     

Disclosure of genetic information to family members: a systematic review of normative documents

PurposeFindings from genomic sequencing can have important implications for patients and family members. Yet, when a patient does not consent to the disclosure of genetic information to relatives, it is unclear how health-care professionals (HCPs) should balance their responsibilities toward patients and their family members and whether breaches in confidentiality are warranted.MethodsWe conducted a systematic review of normative documents to understand how HCPs should discuss and facilitate family disclosure, and what should be done in cases where the patient does not consent to disclosure.ResultsWe analyzed 35 documents from advisory committees at the national, European, and international level. We identified discrepancies regarding the recommended role of HCPs in disclosure. While almost all normative documents supported the disclosure of genetic information without patient consent in limited conditions, the conditions for disclosure were often not well defined. Documents provided varying degrees of information regarding what actions HCPs must take in such situations.ConclusionOur findings present concerns regarding the ability of these normative documents to guide HCPs’ decision making around the disclosure of genetic information to family members. Clearer guidance outlining the responsibilities and acceptability of disclosure is necessary to facilitate disclosure of genetic information to family members.     

The duty to warn at‐risk relatives—The experience of genetic counselors and medical geneticists

Studies published over 15 years ago surveyed genetic counselors (GC) and medical geneticists (MG) to examine their clinical experiences with the conflict of “duty to warn” versus patient confidentiality. Federal and state laws pertaining to medical professionals' duty to warn have since been implemented following the publications of these studies. Using a merged version of surveys employed in the prior studies, this study seeks to understand clinicians' current decision‐making process when faced with patient refusal to inform at‐risk relatives, as well as their familiarity with and opinions of laws and guidelines covering this issue. Consistent with the previous studies, the majority of MG and almost half of GC experience patient refusal. Significantly, fewer MG and GC believe they had a duty to warn their patients' relatives of genetic risk. Only 8% of participants believe current guidelines effectively address the issue of duty to warn. Participant awareness of federal or state laws regulating the disclosure of genetic information remains low. The conflict of duty to warn remains a shared experience among genetics professionals, and resources are needed to facilitate informed decision‐making. Participants' opinions of current policies and clinical decisions may guide professional actions regarding duty to warn.     

Comparison of individuals opting for BRCA1/2 or HNPCC genetic susceptibility testing with regard to coping, illness perceptions, illness experiences, family system characteristics and hereditary cancer distress

OBJECTIVE: To study differences between individuals opting for genetic cancer susceptibility testing of a known familial BRCA1/2 and HNPCC related germline mutation. METHODS: Coping, illness perceptions, experiences with cancer in relatives and family system characteristics were assessed in 271 applicants for genetic testing before test result disclosure. Hereditary cancer distress, worry and cancer risk perception were assessed before, 1 week after, and 6 months after disclosure. RESULTS: Individuals from BRCA1/2 and HNPCC mutation families did not differ with regard to the number of experiences with cancer in relatives, grief symptoms, the course of cancer distress, worry and risk perception through time and most illness perceptions, coping responses and family characteristics. Individuals from BRCA1/2 families perceived hereditary cancer as more serious. They reported more frequently a passive coping style, cancer worry and a less open communication with their partner and children. CONCLUSION: Besides subtle differences, psychological mechanisms may be mainly identical in individuals opting for BRCA1/2 and HNPCC susceptibility testing. PRACTICE IMPLICATIONS: Based on our findings, using a similar counseling approach for individuals opting for BRCA1/2 or HNPCC genetic susceptibility testing is justified. In this approach, attention should be directed more to individual aspects than to the type of disorder.     

Ethical issues in susceptibility genetic testing for late‐onset neurodegenerative diseases

Genome‐wide association studies have revolutionized our understanding of the genetic architecture of complex traits and diseases over the last decade. This knowledge is enabling clinicians, researchers, and direct‐to‐consumer genetics companies to conduct disease susceptibility testing based on powerful methods such as polygenic risk scoring. However, these technologies raise a set of complex ethical, legal, social, and policy considerations. Here we review and discuss a series of ethical dilemmas associated with susceptibility genetic testing for the two most common late‐onset neurodegenerative diseases, Alzheimer's and Parkinson's disease, including testing in asymptomatic individuals. Among others, these include informed consent, disclosure of results and unexpected findings, mandatory screening, privacy and confidentiality, and stigma and genetic discrimination. Importantly, appropriate counseling is a deciding factor for the ethical soundness of genetic testing, which poses a challenge for the regulation of these tests and the training of healthcare professionals. As genetic knowledge about these diseases continues growing and genetic testing becomes more widespread, it is increasingly important to raise awareness among researchers, medical practitioners, genetic counselors, and decision makers about the ethical, legal, and social issues associated with genetic testing for polygenic diseases.     

Genetics in democratic societies - the Nordic perspective

This report, with its emphasis on consensus points in the deliberations of the First Bioethics Workshop under the auspices of the Nordic Genome Initiative (an activity under the Nordic Council through its Nordic Programme Committee for Biotechnology), presents a Nordic perspective on the international discussion of ethical and legal issues relating to genetic testing. The Nordic countries have important common denominators with respect to political structure, education, religion, languages, cultural traditions and attitudes towards human values. A comprehensive national health service exists in all Nordic countries and there are important common legal foundations with great similarities between countries. However, in areas related to biotechnology there are considerable legal differences, but these differences do not necessarily reflect differences in underlying principles. Important ethical principles relevant to genetic testing that are shared by the Nordic countries include the concept of social justice with great stress on equality of treatment, the right to autonomy, the right to full disclosure of test results, strict confidentiality with respect to test resulis, the requirement that participation in testing programs must always be voluntary and based on information, and a responsible balance between risks or inconveniences on one hand and benefits on the other.     

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.     

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.     

Psychological aspects of pre-symptomatic testing for Machado-Joseph disease and familial amyloid polyneuropathy type I

Machado-Joseph disease [MJD, also spinocerebellar ataxia type 3 (SCA3)] and familial amyloid polyneuropathy type I (FAP-I or ATTR V30M) are neurodegenerative disorders, inherited in an autosomal dominant fashion, which have a high prevalence in Portugal, probably due to a founder effect. MJD and FAP-I are late-onset diseases, with symptoms emerging usually during adulthood. CGPP, which is the national reference centre for these disorders, has a genetic lab that offers diagnostic, pre-symptomatic and prenatal testing and an outpatient clinic to counsel and follow relatives at risk for hereditary ataxias, FAP-I and Huntington disease (HD). The present work is a review of our 10-year experience with psychological counselling of individuals at risk for MJD and FAP-I. Persons at risk for FAP-I may show a better response to pre-symptomatic testing than those who are at risk for MJD and HD because of the availability of liver transplantation, which may improve their health and life expectancy. Psychological well-being and specific distress of MJD and FAP-I test applicants, before undergoing genetic testing (baseline level) and 3 to 6 months after disclosure of test results, have shown a low level of change, both in identified carriers and non-carriers. A major goal of psychological characterization of at-risk individuals for MJD and FAP-I is to determine the factors that influence the uptake of genetic testing.     

Confidentiality and serious harm in genetics - preserving the confidentiality of one patient and preventing harm to relatives

Genetics can pose special challenges to the principle of confidentiality within the health professional-patient relationship, since genetic information is by its nature both individual and familial. Most professional guidelines allow confidentiality to be broken in rare circumstances, where it will prevent a 'serious', 'imminent' and 'likely' harm. We argue that the types of harms that may result from genetic medicine are particularly diverse. Using clinical examples, we explore ethical issues that arise when balancing individual and family member interests. As genetic testing becomes more, widespread situations will arise where clinicians are faced with a choice between preserving the confidentiality of one patient and preventing harm to another. Professionals need to incorporate the notion of familial implications in their counseling of individuals. Since such dilemmas have been relatively rare in the pre-genetic age, we call for a wider debate on the balance between confidentiality and harm to others.     

Disclosure,confidentiality, and families: experiences and attitudes of those with genetic versus nongenetic medical conditions

Despite policy attention to medical privacy and patient confidentiality, little empirical work exists documenting and comparing experiences of persons with genetic versus nongenetic medical conditions concerning persons' disclosure to others as well as their views about appropriate confidentiality to and within families. The goal of this cross-sectional interview study with nearly 600 participants was to document and compare the experiences, attitudes, and beliefs of persons with strictly genetic conditions to those of persons with or at risk for other serious medical conditions in terms of the degree to which they have disclosed to others that they have the condition and their views about how others ought to maintain the confidentiality of that information. While almost all participants reported that family members knew about their condition, results suggest participants want to control that disclosure themselves and do not want doctors to disclose information to family members without their knowledge. Similarly, participants do not think family members should be able to get information about them without their knowledge but feel overwhelmingly that it is a person's responsibility to disclose information about hereditary conditions to other family members. Ambivalence about confidentiality was evident: while most participants did not mind doctors sharing information with other doctors when it was for their benefit, the majority also felt that doctors should be punished for releasing information without their permission. The views and experiences reported here generally did not differ by whether participants had genetic versus nongenetic conditions, suggesting that the extensive policy focus on genetic information may be unwarranted.     

Factors influencing intrafamilial communication of hereditary breast and ovarian cancer genetic information

What factors influence intrafamilial communication of hereditary breast and ovarian cancer (HBOC) genetic risk information? Such information can have health implications for individuals who undergo genetic testing, but it can also have implications for their blood relatives. This literature review adopts an ecological model to summarize factors at the individual, familial, and community levels, as well as cross cutting factors relating to the complexity of HBOC genetic information and responsibilities that this information can give rise to. These factors are complex and may result in conflicting senses of responsibility. Faced with the task of communicating HBOC genetic information, the response may be to attempt to balance the potential negative impact of the information on the well-being of the informee (eg, can s/he handle this information?) against the potential health benefit that the knowledge could result in. This balancing represents an effort to reconcile conflicting approaches to protecting family members, and is a moral dilemma. This review sheds light on the factors that contribute to resolve this dilemma.     

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.     

Statement of the ESHG on direct-to-consumer genetic testing for health-related purposes

Many private companies offer direct-to-consumer (DTC) genetic testing services. Some tests may detect severe and highly penetrant monogenic disorders, while other tests are for genetic variants found associated with increased susceptibility for common and complex diseases in large-scale population studies. Through its Public and Professional Policy committee followed by member and expert consultation, the European Society of Human Genetics has developed the following policy on advertising and provision of predictive genetic tests by such DTC companies: (1) clinical utility of a genetic test shall be an essential criterion for deciding to offer this test to a person or a group of persons; (2) laboratories providing genetic tests should comply with accepted quality standards, including those regarding laboratory personnel qualifications; (3) information about the purpose and appropriateness of testing should be given before the test is done; (4) genetic counselling appropriate to the type of test and disease should be offered; and for some tests psychosocial evaluation and follow-up should be available; (5) privacy and confidentiality of sensitive genetic information should be secured and the data safely guarded; (6) special measures should be taken to avoid inappropriate testing of minors and other legally incapacitated persons; (7) all claims regarding genetic tests should be transparent; advertisement should be unbiased and marketing of genetic tests should be fair; (8) in biomedical research, health care and marketing, respect should be given to relevant ethical principles, as well as international treaties and recommendations regarding genetic testing; and (9) nationally approved guidelines considering all the above-mentioned aspects should be made and followed.Progress in biotechnology and genetic research has led to an increasing number of tests with potential predictive health information. In parallel with this development, private companies have established direct-to-consumer (DTC) genetic testing services, both for monogenic and severe genetic disorders and for genetic variants possibly associated with common complex diseases (susceptibility variants). Tests are also offered for conditions of minor or no health importance.The European Society of Human Genetics (ESHG) is concerned about the way in which commercial companies are currently introducing genetic tests into the market outside of the scope of the traditional healthcare system. With this Statement, we provide a formal policy with regard to DTC advertising and provision of genetic tests with predictive health information. Important issues, such as DTC paternity and ancestry testing, are thus outside the scope of this Statement.In line with the Council of Europe''s Additional Protocol to the Convention on Human Rights and Biomedicine, concerning Genetic Testing for Health Purposes and the OECD Guidelines for Quality Assurance in Molecular Genetic Testing, this Statement highlights the importance of right to information, quality of the test performed, clinical usefulness of the tests provided, the need for individualized medical supervision, the provision of pre-test information and genetic counselling, follow-up and support in the interpretation of results and their psychosocial impact, the protection of persons not able to consent, respect for privacy and confidentiality, and the storing of the samples, their property and respect for ethical principles in research.     

Areas of intervention for genetic counselling of dementia: cross-cultural comparison between Italians and Americans

OBJECTIVE: Purposes of this study are: (1) to evaluate attitudes, beliefs and experiences towards dementia among relatives of Italian familial cases; (2) to perform a cross-cultural comparison between Italian and American samples; (3) to identify predictors of intentions to undergo hypothetical genetic testing. METHODS: Participants were 134 relatives of patients affected by familial forms of dementia. We administered tests measuring health psychological styles, social variables, illness perceptions, intentions regarding genetic testing, and perceptions of the pros and cons of genetic testing. RESULTS: Respondents had a poor Alzheimer's disease knowledge and a low perceived dementia threat. When compared to Americans, Italians reported greater willingness to undergo genetic testing and perceived a different subset of benefits and risks. The strongest predictors of test intention were decisional balance, homemaker status and two beliefs concerning dementia causes. CONCLUSIONS: Italians had a poor knowledge of the disease and a low awareness of personal risk of developing dementia. As compared to Americans, they expressed higher intentions to undergo genetic testing and they have a different perception of benefits and risks. PRACTICE IMPLICATIONS: Understanding of cultural differences in knowledge, attitudes and perception of the disease is important to design optimal health services and education programs for dementia.