Introduction

Over the last two decades major developments in human genetic research have resulted in the molecular and phenotypic details of almost 2000 different genetic conditions being determined.1 Utilising these advances for genetic testing not only provides information about an individual undergoing testing but also has implications about health and reproductive decision making for their family members.2, 3, 4 Individuals who undergo genetic testing need support and education about the implications genetic information carries for themselves and for their relatives.

The counselling process before and after testing provides an opportunity for the genetic health professional to assist individuals to understand the importance of communicating genetic information to their at-risk relatives. Nevertheless, in many countries, the responsibility of disseminating genetic information to family members lies largely with the individual.

The possibility that the individual will not disclose genetic information to family members raises an ethical dilemma for health professionals. This issue is problematic as health professionals will have to weigh up their patient's right to confidentiality versus the potential for harm to uninformed family members.5, 6 This issue is well documented by research7, 8, 9, 10, 11 and a comprehensive review of guidelines has been published recently. Godard et al12 categorises the guidelines into those requiring an individual's consent to inform family members, where ‘exceptional circumstances’ allow disclosure to family members, or where ‘special considerations’ can account for disclosure.12 The American Society of Human Genetics Social Issues Subcommittee on Familial Disclosure also provides an overview of guidelines titled Professional disclosure of familial genetic information, which includes international, regional and national positions on health professionals disclosing genetic information to uninformed at-risk family members.

Despite the availability of literature and guidelines examining non-disclosure of genetic information, research suggests that many individuals do attempt to communicate genetic information to their family members.13 Although these individuals are not actively blocking disclosure of genetic information to their family members, communication of this information is a complicated process and can be affected by family dynamics4, 14, 15, 16 family history,17 personal understanding, ability to explain genetic concepts, and family member's interest and ability to understand the information. Sermijn et al18 demonstrated that when individuals communicated genetic information, it did not result in family members gaining a good understanding and awareness of the genetic condition.

Given the apparent difficulties individuals encounter when communicating genetic information to family members, it may be necessary for genetic health professionals to play a greater role after a genetic test result is given, to support and assist individuals to inform their families. More support from health professionals may result in a greater number of family members becoming aware and gaining a better understanding of their genetic risk. Ethical debate apropos the merits of direct contact from clinical services to at-risk family members encompasses opinions ranging from at-risk relatives' right not to know19 to professionals' moral duty to inform.20

This review presents the existing guidelines, recommendations, reports and policy papers related to the communication of genetic information in families. It also examines the similarities and differences, illustrates general themes and stances, and identifies gaps within recommendations and guidelines.

Methods

Data sources

The data sources were publications in English collected from the websites of national human genetics societies, bioethics committees, research institutes, legal recommendations committees, and regional and international health organisations. Additional organisations were sourced via links from the website of the European Society of Human Genetics (ESHG) including a search of each of the ESHG members' websites and the International Federation of Human Genetics Societies' website. To ensure all relevant guidelines were included, the databases of Medline, Web of Science and Google Scholar were searched using the keywords communic*, family communic*, guideline*, recommendation* and report*.

Study selection

Publications were eligible for inclusion in this review if they were reports, guidelines publications, position papers, recommendations or statements that included commentary about the ethics of genetic testing, genetic information, genetic screening or guidelines for genetic health professionals' practice. The search excluded publications focussing on genetic registers or other unrelated genetic research guidelines.

Results

In total, 19 guidelines met the inclusion criteria, emanating from 18 different organisations from six countries, three regional and three international organisations. The guidelines were published by national human genetics societies (six),21, 22, 23, 24, 25, 26 bioethics committees and councils (four),27, 28, 29, 30 genetics commissions (two),31, 32 international health organisations (two),33, 34 regional health organisations (two),35, 36 a research institute (one)37 and a consumer group (one).38

Key themes

Genetic information has familial implications

Many of the published guidelines begin by explicitly stating that genetic information is not only relevant to the individual receiving it, but also to their family members21, 22, 27, 28, 29, 31, 33, 34, 35, 36, 38, 39 due to ‘genetic heritage’,34 and therefore may have consequences for family planning and personal health of relatives21, 31, 36 who are unaware of their risk.38. Five organisations are more explicit about how genetic information has implications for, specifying ‘blood relatives’,22 ‘the whole family, ascendants, descendants, collaterals, and possibly spouses’,27 ‘future children’,36 ‘relatives, including offspring’,35 or ‘family’ [which] needs to be understood as covering an extended set of relatives linked by blood ties or by marriage or by both'.30 Other guidelines simply specify ‘family’,21, 28, 29 ‘family members’31 or ‘relatives’21 to cover the broad spectrum of those who are at risk of a genetic condition. ‘The ‘true patient’ may be a family’34 is an apt summation to justify the dissemination of genetic information to family members and is used as a platform for such discussion by many of the organisations. For a summary of guidelines, see Table 1.

Table 1 Summary of guidelines
Full size table

Should genetic health professionals adopt a directive stance?

There is a general consensus regarding the responsibilities of genetic health professionals to, at minimum, inform clients about the implications that genetic information holds for their family members.23 However, many guidelines take a more in-depth stance recommending that genetic health professionals actively encourage patients to disclose genetic information to family members.24, 27, 28, 30, 31, 32, 34, 37, 38 The language used in the publications varies from a passive stance, ‘it is suggested to the subject the result be disclosed to family members’,24 to more strongly worded ‘a doctor must do everything in his power to convince a patient’27 and ‘medical geneticists are entitled to ask assertively, if not to require’.34 However, within this spectrum, lie more moderate views, such as, ‘individuals can be encouraged to share information by considerate and patient discussion of the issues’.38 In contrast, one committee's guidelines do not concur with the consensus, stating, ‘geneticists who press for the information to be relayed … violate patient autonomy’.21 There is no generalised approach taken by the national human genetics societies' guidelines reviewed towards encouragement to disclose; instead these recommendations originate from a spectrum of the organisations included. For a summary of guidelines, see Table 2.

Table 2 Summary of guidelines
Full size table

Should genetic health professionals identify at-risk family members?

Only two organisations explicitly stated that ‘genetic services’ or ‘clinics’ should assist their clients by identifying the family members who are at risk of also inheriting the genetic condition.26, 31 The ESHG states that ‘genetic services should support the identification of … relatives who are at risk’ but goes on to qualify that statement with ‘who are at risk of serious genetic disorders’.26 The UK Human Genetics Commission takes a more generalistic view by suggesting that ‘clinics may support and indeed encourage the process of family communication and genetic counsellors may give advice on how such information may be disseminated to those for whom it may be most relevant’.31 Also providing some guidance is the UK Nuffield Council on Bioethics, discussing that individuals require information about the implications of a positive test result for their ‘future and existing children, and for other family members’30 before deciding whether to undertake a genetic test. For a summary of guidelines, see Table 3.

Table 3 Summary of guidelines
Full size table

Do individuals have a moral obligation to inform family members?

Some guidelines also discuss the role of the individual and the family when examining the situation involving communication of genetic information. The Nuffield Council states that both individuals and family members have responsibilities to be willing to give and receive genetic information.30 Other publications discuss the ethical principal of non-maleficence34 and encourage individuals to ‘act ethically’38 by sharing the genetic information with family members. An individual's moral obligation to their at-risk family members is presented as a compelling argument, supported by kinship bonds and an assumed desire to protect family members from harm.21, 28, 34 One publication states that an individual would be ‘morally condemnable’ if they withheld information from their family.27 The European Commission also illustrates that individuals may not be free to withhold genetic information due to family pressure.35 For a summary of guidelines, see Table 4.

Table 4 Summary of guidelines
Full size table

Should genetic health professionals assist individuals to inform family members?

Recommendations addressing the provision of support to individuals who are informing their family members range from unambiguous statements that suggest the use of written materials28, 37 to more open-ended suggestions that state support should be offered to individuals who are communicating genetic information.31, 39 Three organisations discuss the option of having the genetic health professional communicate the genetic information to family members at the client's request.25, 28, 34 This suggestion is offered as a solution to clients who ‘would prefer not to contact family members personally’25 and who ‘may feel embarrassed about transmitting bad news’,34 or where ‘direct communication between family members is not an acceptable option’.28 For a summary of guidelines, see Table 5.

Table 5 Summary of guidelines
Full size table

Discussion

The 19 guidelines included in this review address some aspects of genetic health professionals' practice concerning their client's genetic information and the ensuing familial implications. However, the national human genetics societies, do not provide detailed guidance about how genetic health professionals should support clients who are communicating genetic information. Other national human genetics societies may have published guidelines addressing this. However, the guidelines were either not available on their websites or their websites were in a language other than English.

The UK Nuffield Council on Bioethics and the French National Consultative Ethics Committee for Health and Life Sciences provide comprehensive and insightful discussion regarding the genetic health professionals' need to adoptive a directive stance and seek to persuade clients to disclose genetic information. These organisations also discuss the moral obligations individuals face when deciding whether to communicate, and the need for genetic health professionals to assist clients by identifying at-risk family members. Alternatively, many organisations focus on recommendations that address situations of non-disclosure of genetic information to family members.23, 32

Research in the area of communication of genetic information in families readily illustrates that clients report high frequencies of communication to first- and second-degree relatives and less communication to those that are more distantly related.4, 9 In contrast, research involving family members revealed a lack of understanding and awareness that a genetic condition was present in their family.18 This supports the notion that clients do attempt to communicate genetic information to family members; however, this role can be daunting and despite best efforts is undertaken poorly.18 Other research documenting how frequently clients report non-disclosure to genetic health professionals6 found only 65 reported cases of non-disclosure out of 40 000 clients attending genetics clinics over a 1-year period internationally. Therefore, the reported frequency of non-disclosure accounts for <1% of all genetics consults, and despite this figure being reliant on an honest portrayal of the familial situation by clients to the attending counsellor,6 it would seem the overwhelming majority of clients report disclosing genetic information to their family members.

Given that the literature suggests that the majority of consultations will involve clients who will attempt to communicate genetic information to family members, and that many organisations focus more greatly on non-disclosure rather than communication, it is important to redress this imbalance by providing more comprehensive guidelines and recommendations to genetic health professionals to assist their clients when undertaking communication of genetic information. It is timely for the human genetics societies to develop and publish more in-depth discussions on this topic, similar to the publications emanating from the bioethics committees.27, 30 Some issues for consideration may include: the need for genetic health professionals to be directive in their counselling so that clients are encouraged to communicate genetic information; to identify family members who are at risk of also inheriting the genetic condition; to encourage discussion with clients about their personal responsibilities to their family members; and the provision of further support after consultation, which may assist with the communication process.

Guidelines also fail to advise whether practice should differ given the variation of familial implications inherent in different genetic conditions. Clinical practice is highly variable as implications for at-risk relatives may include the availability of surveillance and/or treatment, the risk of serious disease in future generations or an unpreventable fatal condition. Guidelines or recommendations addressing practice for specific conditions would be useful, given this variation, and further research in this area would assist with the development of these guidelines.

The majority of the organisations reviewed contain some discussion about the familial implications that are inherent in genetic information. These preliminary discussions are fairly generic with some, but not all, organisations using this initial discussion as a platform for further recommendations about the client's role as a communicator and/or the genetic health professional's role as a facilitator of this process.

Guidelines for medical genetics and genetic counselling practice strongly emphasise that clients should be counselled in a non-directive manner,39 which is in accordance with the current ethos of non-paternalistic practice in medicine. However, contrary to this, many of the guidelines strongly encourage genetic health professionals to be directive with their clients when discussing the communication of genetic information. Practising in a directive manner may be justified in this area of genetic counselling to better ensure family members are made aware of their genetic risks.

Although many organisations discuss the familial implications of genetic information and the need for directive counselling when encouraging clients to inform their family members, few explicate the need for genetic health professionals to assist clients by identifying the at-risk relatives to whom the information should be given. Although many genetic health professionals may already undertake this task in their practice, the guidelines could be more insistent.

Contiguous to these issues of clarifying genetic health professionals' practice is the issue regarding clients' responsibilities to family members. It is well documented in the literature that clients report communicating genetic information to family members due to possessing a duty of care and/or a moral obligation21 towards their relatives.40 Therefore, guidelines need to better address how genetic health professionals discuss clients' responsibilities and direct them to pass on genetic information.

A number of the publications also mention the need for genetic health professionals to provide support to their clients beyond the consultation. Two guidelines, the Australian National Health and Medical Research Council28 and the US Institute of Medicine,37 suggest that written letters could be provided to relatives with information about the genetic condition. As mentioned previously, individuals are often burdened with the responsibility of informing family40 and attempts to communicate may result in a poor understanding of the genetic information being disseminated.18 Consequently, any support provided from the genetics service to individuals may be well received.

Conclusion

None of the guidelines, reports and recommendations reviewed provided a comprehensive overview of the process involved when clients receive genetic test results and are being counselled about the familial implications. The primary gap identified in the guidelines is the need for genetic health professionals to assist clients by identifying at-risk relatives, and the options for continued support while disseminating genetic information. Second, there is a lack of guidelines that address the differences in clinical practice due to the varying familial implications inherent in genetic conditions.

To develop more comprehensive guidelines, research is needed to investigate the current practice of genetic health professionals when caring for patients with genetic conditions, with varying familial implications. Further research exploring families' experiences of communicating genetic information would also assist with the development of evidence-based guidelines and it would subsequently be beneficial for the practice of medical genetics for the human genetics societies to review their guidelines, given this is becoming an increasingly topical and important area.