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 to the family of breast/ovarian cancer genetic test results: Patient's willingness and associated factors

Informed probands are key actors for disclosing genetic information to their relatives when a mutation has been identified in the family. The objectives were to study women's attitudes towards the family disclosure of positive breast cancer genetic testing results and to determine the predictive factors of the diffusion patterns observed. A national multi‐center cross‐sectional survey was carried out at five French cancer genetic clinics during a 1‐year period. Self‐administered questionnaires were completed after the consultation by 84.5% (398/471) of women attending breast cancer genetic clinics for the first time. Among the 383 respondents who had at least one living first‐degree relative to inform, 8.6% would inform none, 33.2% would inform at least one of them, and 58.2% would inform all of them. The sibship would be the most frequently informed blood relatives, sisters in 86.9% and brothers in 79% compared with mother in 71.4%, children in 70.4%, and father in 64.9%. Women of the family would be more frequently informed than men (P < 0.05). After multivariate adjustment, age, the fact to be affected by cancer, the number of daughters, and the emotional disturbance due to cancer in a close relationship were the main determinants (P < 0.05) of the diffusion patterns observed. The first step of the relatives' attendance to genetic counseling and the proband's willingness to disclose breast cancer genetic tests results was high in this study and was clearly dependent on the women's personal and emotional characteristics. Am. J. Med. Genet. 94:13–18, 2000. © 2000 Wiley‐Liss, Inc.     

To know or not to know,disclosure of a newborn carrier screening test result for cystic fibrosis

PurposeMost newborn screening (NBS) strategies for Cystic Fibrosis (CF) also identify carriers. However, it is unclear if parents want to be informed about their child's carrier status or not.MethodsFocus group discussions with pregnant couples to explore their opinions about disclosure of a carrier result for CF of their newborn.ResultsAll (n = 30) wanted to be informed when newborn screening would show their newborn being a CF-carrier. Their main reason was the implication of this knowledge for further family planning. Other family members could be informed and children within the family could be tested. Parents stated they have the right to know, but others also expressed that the choice of not being informed should be offered as well.ConclusionMost parents want to be informed when NBS for CF reveals that their child is a CF-carrier, but the choice of not being informed should also be offered.     

Attitudes toward an unsolicited approach in relation to status of genetic disease: Exemplified by α1‐antitrypsin deficiency

Knowledge of a genetic disease in an individual raises the questions of whether and how this information should be communicated to his or her family. The aim of the present study was to provide factual information about attitudes towards an unsolicited approach from a physician regarding genetic counseling within affected families. We performed a questionnaire study among patients with α₁‐antitrypsin deficiency, their examined and unexamined relatives, and a control group of Danish citizens. Of 2,146 subjects, the questionnaires were returned by 1,761 (82%), and 1,609 (75%) wanted to participate. Stepwise logistic regression showed that phenotype/subgroup, having descendants, and being female were significantly related to the approval of an unsolicited approach and the informing of relatives. Provided it was difficult for the index case to inform relatives about their risk and about his/her disease, then a total of 75.8% would not proscribe an unsolicited approach by the physician. Most of those for proscribing an unsolicited approach found that relatives should be informed in advance by the index case. The control group of randomly chosen Danes was the most skeptical towards an unsolicited approach. Most individuals found that genetic risk information should be shared with relatives at‐risk. A flexible information policy by the health care system based on active approach towards relatives is acceptable to 75 to 95% of individuals in order to ensure diffusion of genetic risk information within families segregating for a genetic disease with a modifiable outcome. Am. J. Med. Genet. 94:207–213, 2000. © 2000 Wiley‐Liss, Inc.     

Most people share genetic test results with relatives even if the findings are normal: Family communication in a diverse population

PurposeWith increasing utilization of genetic testing, sharing genetic information can become part of general family health communication while providing biological relatives with important information about their own genetic risk. Importantly, little is known about motivations for and barriers to family communication of genetic information in historically underserved populations.MethodsUsing mixed methods, we explored patient experiences with family communication in a study population of English- and Spanish-speaking adults aged 18 to 49 years, enriched for participants from historically underserved backgrounds. Risk screening for hereditary cancer guided genetic testing for cancer risk genes and other medically actionable findings.ResultsMost participants overall (91%), including most with normal findings (89%), shared or planned to share their results with relatives. Common motivations for sharing results were to give relatives information about their genetic risk and because the participant thought the results were interesting. Reasons for not sharing were limited contact with relatives, perceptions of limited clinical utility for relatives, and concern that discussion of genetic information was stigmatized or taboo.ConclusionResults demonstrate high rates of sharing genetic information, indicate motivations for sharing go beyond facilitating genetic testing for relatives, and suggest general willingness to share genetic information as part of family health communication.     

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 Attitudes of Physicians and the General Public toward Prognostic Disclosure of Different Serious Illnesses: a Korean Nationwide Study

BackgroundAlthough international guidelines recommend palliative care approaches for many serious illnesses, the palliative needs of patients with serious illnesses other than cancer are often unmet, mainly due to insufficient prognosis-related discussion. We investigated physicians'' and the general public''s respective attitudes toward prognostic disclosure for several serious illnesses.MethodsWe conducted a cross-sectional survey of 928 physicians, sourced from 12 hospitals and the Korean Medical Association, and 1,005 members of the general public, sourced from all 17 administrative divisions in Korea.ResultsFor most illnesses, most physicians (adjusted proportions – end-organ failure, 99.0%; incurable genetic or neurologic disease, 98.5%; acquired immune deficiency syndrome [AIDS], 98.4%; stroke or Parkinson''s disease, 96.0%; and dementia, 89.6%) and members of the general public (end-organ failure, 92.0%; incurable genetic or neurologic disease, 92.5%; AIDS, 91.5%; stroke or Parkinson''s disease, 92.1%; and dementia, 86.9%) wanted to be informed if they had a terminal prognosis. For physicians and the general public, the primary factor to consider when disclosing terminal status was “the patient''s right to know his/her condition” (31.0%). Yet, the general public was less likely to prefer prognostic disclosure than physicians. Particularly, when their family members were patients, more than 10% of the general public did not want patients to be informed of their terminal prognosis. For the general public, the main reason for not disclosing prognosis was “psychological burden such as anxiety and depression” (35.8%), while for the physicians it was “disclosure would have no beneficial effect” (42.4%).ConclusionMost Physicians and the general public agreed that disclosure of a terminal prognosis respects patient autonomy for several serious illnesses. The low response rate of physicians might limit the generalizability of the results.     

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.     

Exploring attitudes,beliefs, and communication preferences of Latino community members regarding BRCA1/2 mutation testing and preventive strategies

PurposeTo inform development of a culturally sensitive hereditary breast and ovarian cancer communication initiative and related clinical genetic services.MethodsFive focus groups were conducted with 51 female and male Latinos. Educational materials were designed to communicate information about hereditary breast or ovarian cancer and availability of relevant clinical services or prevention strategies. Focus groups explored participants' knowledge, attitudes, and beliefs about hereditary breast and ovarian cancer, BRCA1/2 testing, and communication preferences for hereditary breast and ovarian cancer health messages.ResultsOverall, awareness of familial breast and ovarian cancer and availability of genetic risk assessment was low. Once informed, participants held favorable attitudes toward risk assessment and counseling services. Critical themes of the research highlighted the need to provide bilingual media products and use of a variety of strategies to increase awareness about hereditary cancer risk and availability of clinical genetic services. Important barriers were identified regarding family cancer history communication and cancer prevention services. Strategies were suggested for communicating cancer genetic information to increase awareness and overcome these barriers; these included both targeted and tailored approaches.ConclusionThis research suggests that cancer genetic communication efforts should consider community and cultural perspectives as well as health care access issues before widespread implementation.     

Family communication about positive BRCA1 and BRCA2 genetic test results.

PURPOSE: The identification of a BRCA1 or BRCA2 genetic mutation can provide important health information to individuals who receive this result, but it can also provide crucial cancer risk information to family members. Most of the research on communication of genetic test results has focused on first degree relatives. The purpose of this retrospective study was to examine the process of communicating a positive BRCA1 or BRCA2 genetic test result to male and female first, second, and third degree relatives. METHODS: Participants were 38 female mutation carriers who responded to a written survey assessing the number and relationship of relatives informed, methods used to inform relatives, topics discussed, and motivations and barriers for communication. RESULTS: Overall, 59% (470/803) of first, second, and third degree relatives were informed. The proportion of informed parents, siblings, and offspring was nearly twice that of more distant relatives including nieces, nephews, aunts, uncles, grandchildren, and cousins (88% versus 45%; P = 0.02). The method of communication differed by the gender of the relative, as did some of the topics discussed. The most important reasons for discussing the genetic test results were (1) to inform the relatives of their risk, (2) to suggest that they be tested, and (3) to fulfill a perceived duty to inform. The major barrier to communication was little contact and/or emotionally distant relationships. CONCLUSION: Female mutation carriers act on a perceived duty to inform close relatives of their positive test result; however, there is a need for genetic counseling strategies that address communication with more distant relatives.     

Quantifying family dissemination and identifying barriers to communication of risk information in Australian BRCA families

PurposeRecommendations for BRCA1 and BRCA2 mutation carriers to disseminate information to at-risk relatives pose significant challenges. This study aimed to quantify family dissemination, to explain the differences between fully informed families (all relatives informed verbally or in writing) and partially informed families (at least one relative uninformed), and to identify dissemination barriers.MethodsBRCA1 and BRCA2 mutation carriers identified from four Australian hospitals (n=671) were invited to participate in the study. Distress was measured at consent using the Kessler psychological distress scale (K10). A structured telephone interview was used to assess the informed status of relatives, geographical location of relatives, and dissemination barriers. Family dissemination was quantified, and fully versus partially informed family differences were examined. Dissemination barriers were thematically coded and counted.ResultsA total of 165 families participated. Information had been disseminated to 81.1% of relatives. At least one relative had not been informed in 52.7% of families, 4.3% were first-degree relatives, 27.0% were second-degree relatives, and 62.0% were cousins. Partially informed families were significantly larger than fully informed families, had fewer relatives living in close proximity, and exhibited higher levels of distress. The most commonly recorded barrier to dissemination was loss of contact.ConclusionLarger, geographically diverse families have greater difficulty disseminating BRCA mutation risk information to all relatives. Understanding these challenges can inform future initiatives for communication, follow-up and support.     

Confidentiality versus duty to inform--an empirical study on attitudes towards the handling of genetic information

We set out to investigate whether potential relatives want to be informed about the existence of hereditary conditions within their family and under which conditions they want healthcare providers to breach confidentiality to inform them. We hypothesized that the willingness to be informed about a hereditary condition in the family would be influenced by characteristics of the disease and by individual characteristics. Surveys were administered to a Norwegian random sample (N = 2,400) to a Swedish random sample (N = 1,200), and to a Norwegian student sample (n = 607). Eight different disease scenarios were constructed, systematically varying three disease characteristics: fatality, penetrance, and availability of treatment. Results show that a majority of participants wished to be informed about the existence of a hereditary disease within their family. The desire to be informed and the acceptability of breaches of confidentiality were predicted by the treatability of the disease, uncertainty avoidance, and age, but not by self-efficacy or worry.     

Attitudes toward an unsolicited approach in relation to status of genetic disease: exemplified by alpha(1)-antitrypsin deficiency

Knowledge of a genetic disease in an individual raises the questions of whether and how this information should be communicated to his or her family. The aim of the present study was to provide factual information about attitudes towards an unsolicited approach from a physician regarding genetic counseling within affected families. We performed a questionnaire study among patients with alpha(1)-antitrypsin deficiency, their examined and unexamined relatives, and a control group of Danish citizens. Of 2,146 subjects, the questionnaires were returned by 1,761 (82%), and 1,609 (75%) wanted to participate. Stepwise logistic regression showed that phenotype/subgroup, having descendants, and being female were significantly related to the approval of an unsolicited approach and the informing of relatives. Provided it was difficult for the index case to inform relatives about their risk and about his/her disease, then a total of 75.8% would not proscribe an unsolicited approach by the physician. Most of those for proscribing an unsolicited approach found that relatives should be informed in advance by the index case. The control group of randomly chosen Danes was the most skeptical towards an unsolicited approach. Most individuals found that genetic risk information should be shared with relatives at-risk. A flexible information policy by the health care system based on active approach towards relatives is acceptable to 75 to 95% of individuals in order to ensure diffusion of genetic risk information within families segregating for a genetic disease with a modifiable outcome.     

Reference frame and emotions may contribute to discrepancies in patient and clinician risk estimates in Long QT syndrome

ObjectivePatients and clinicians need to have similar understandings of cardiac risk, so patients can make informed decisions. The aim of this study was to assess the concordance of risk estimates between Long-QT-Syndrome (LQTS) patients and an experienced clinician.MethodsThis cross-sectional study included 86 LQTS patients recruited from a clinical registry. Participants completed two questions on their risk of cardiac arrest; likelihood (1=very-unlikely to 5=very-likely), and chance (%), and an experienced clinician computed the same based on risk factors.Results30% and 55% of patients had concordant perceptions with the clinician estimate on the chance and likelihood questions respectively. The patients who overestimated their risk (%) had significantly greater emotional responses and concerns about their LQTS. 22 (29%) patients reported a risk of 50% or greater, in contrast to the clinician’s risk estimates not exceeding 30%.ConclusionMany LQTS patients had discordant risk perceptions to the clinician’s. Patients and clinicians may have different frames of reference, and patients’ estimates are linked with emotions.Practical implicationsClinicians need to take into account LQTS patients’ different frame of reference when discussing risk information. This will support shared decision making.     

A preliminary comparison of the hopes of researchers, clinicians, and families for the future ethical use of genetic findings on schizophrenia.

A written questionnaire about genetic testing was distributed to all registrants at The 2004 World Congress of Psychiatric Genetics, mailed to clinical psychiatrists obtained from a directory of clinicians practicing in New York City, and mailed to members of families who have multiple affected family members with schizophrenia. A total of 274 individuals responded (162 researchers, 64 clinicians, and 48 family members). This survey shows that the majority of family members who completed the questionnaire (83.3%) would want to be tested if a genetic test were to become available. Over half of the family members (56.2%) would want prenatal testing. Similarly, over half of the clinicians (56.3%) would recommend it, despite only 25% of the researchers reporting that it would be a future useful tool. All of the clinicians surveyed thought adoption agencies should inform families about a family history of schizophrenia, while only half of the researchers thought this should be done (51.9%). These differences in opinions between consumers, their clinicians, and researchers could be based on a lack of understanding of the amount of risk conferred to family members by reported gene variants. Providing public discussions for placing these risks in perspective should be the responsibility of researchers. Open public discussion of the ethical and social uses of the information gained from psychiatric genetic research and its limitations is encouraged.     

The feasibility of online genetic testing for lung cancer susceptibility: uptake of a web-based protocol and decision outcomes

PurposeTo examine the feasibility of offering genetic susceptibility testing for lung cancer (GSTM1) via the Internet to smokers who were blood relatives of patients with lung cancer. Outcomes include proportion who logged on to the study website to consider testing, made informed decisions to log on and to be tested.MethodsBaseline measures were assessed via telephone survey. Participants could choose to log on to the study website; those who did were offered testing. Informed decisions to log on and to be tested were indicated by concordance between the decision outcome and test-related attitudes and knowledge.ResultsThree hundred four relatives completed baseline interviews. One hundred sixteen eligible relatives expressed further interest in receiving information via the web. Fifty-eight logged on and 44 tested. Those logging on expressed greater quit motivation, awareness of cancer genetic testing, and were more likely to be daily Internet users than those who did not log on. Approximately half of the sample made informed decisions to log on and to be tested.ConclusionInterest in a web-based protocol for genetic susceptibility testing was high. Internet-delivered decision support was as likely as other modalities to yield informed decisions. Some subgroups may need additional support to improve their decision outcomes.     

DNA data sharing: research participants' perspectives

PurposeCurrent genomic research policy calls for public data release with specific consent for data sharing. Because most clinical investigators are not responsible for and do not anticipate data broadcast few include information about data sharing in their informed consent process. Model language is therefore urgently needed and should be responsive to research participants' attitudes and judgments. The purpose of this study was to describe research participants' attitudes and judgments about data release and their preferences for varying levels of control over decision-making.MethodsFocus group sessions with patients and controls from a genetic study of epilepsy.ResultsDespite wide variation in judgments, there was general interest in receiving information and making decisions about data sharing. Participants preferred multiple data sharing options, but were more likely to consent to public data release when given fewer options. For existing samples most participants felt that genomic information should not be publicly released without explicit consent from research participants.ConclusionsSpecific information about data sharing ought to be included in the consent process for all genetic research. These participants desire multiple data release options, but the effect, if any, on consent to public release deserves further investigation.     

Process and outcome in communication of genetic information within families: a systematic review

The communication of risk is a central activity in clinical genetics, with genetic health professionals encouraging the dissemination of relevant information by individuals to their at-risk family members. To understand the process by which communication occurs as well as its outcomes, a systematic review of actual communication in families about genetic risk was conducted. Findings from 29 papers meeting the inclusion criteria were summarised and are presented narratively. Family communication about genetic risk is described as a deliberative process, in which: sense is made of personal risk; the vulnerability and receptivity of the family member is assessed; decisions are made about what will be conveyed; and the right time to disclose is selected. The communication strategy adopted will depend on these factors and varies within families as well as between families. Inherent in these processes are conflicting senses of responsibility: to provide potentially valuable information and to prevent harm that may arise from this knowledge. However, the research 'outcomes' of communication have been professionally determined (number of relatives reported as informed, uptake of testing, knowledge of the recipient) and are typically unrelated to the concerns of the family member. The impact of communication on the individual, family members, and family relationships is of concern to the individual conveying the information, but this is largely self-reported. Currently, there is insufficient information to inform the development of theoretically and empirically based practice to foster 'good' communication. The implications for future research are discussed.