Genetic Test Results and Disclosure to Family Members: Qualitative Interviews of Healthcare Professionals’ Perceptions of Ethical and Professional Issues in France
Abstract
The benefit of disclosing test results to next of kin is to improve prognosis and—in some cases—even prevent death though earlier monitoring or preventive therapies. Research on this subject has explored the question of intra-familial communication from the standpoint of patients and relatives but rarely, from the standpoint of healthcare professionals. The purpose of this study was to interview relevant healthcare professionals in France, where legislation framing the issue was recently passed. A qualitative study consisting of semi-structured interviews was set up to get a clearer picture of the challenges arising from this issue, its consequences in terms of medical care-service practices, and the positions that frontline professionals have taken in response to this new legal framework. The findings from eight interviews with 7 clinical geneticists and 1 genetic counselor highlight very different patterns of practices among care services and among the genetic diseases involved. It is equally crucial to investigate other issues such as the nature of genetic testing and its consequences in terms of disclosing results to kin, the question of the role of genetic counseling in the disclosure process, the question of prescription by non-geneticist clinicians, and practical questions linked to information content, consent and medical follow-up for patients and their relatives.
Introduction
Questions Raised – Interview the Practitioners
The disclosure of genetic test results to next of kin has long been an issue both in France and internationally (Knoppers and Chadwick 1994). The utility of knowing about a disorder likely to affect a family member is that for certain diseases (e.g., breast cancer, colon cancer, childhood metabolic illnesses, etc.) there are screening options or preventive therapies that can forestall the onset of the disorder or improve individual prognosis, and in some cases even prevent death.
This question of disclosing information to next of kin has fuelled debate on the importance of disclosure—when human lives can be improved or even saved, overriding principles of personal privacy and medical confidentiality. What information should be disclosed for what genetic diseases? What are the rights and duties of the actors involved? What are the codes of practice framing how genetic information is disclosed to relatives? Which relatives should be informed? This issue is therefore as relevant to different fields of human and social sciences—law, psychology, and sociology—as it is to the field of medical ethics in human genetics labs and clinical practice.
To date, most of the relevant literature available tends to deal with identifying factors liable to influence patients’ attitudes to the intra-familial communication of genetic information. As the INSERM [French national institute of health and medical research] expert report on genetic tests clearly shows, the “contexts of use” of genetic tests (i.e., the situations in which they are requested and the experiences of persons and families) are extremely wide-ranging (INSERM 2008). The brunt of research has focused on the disclosure of genetic predispositions to breast and ovarian cancer identified by BRCA½ mutation testing [see Chivers Seymour et al. (2010) for a review of the literature, and Bradbury et al. (2012) for a recent paper]. There are also a number of papers on Lynch syndrome, Huntington's disease or inherited heart disease (Delliaux et al. 2008; Katja I Aktan-Collan et al. 2011; Vavolizza et al. 2014). A recent review by Wiseman et al. (2010) and a study by Wiens et al. (2013) have teased out a set of criteria framing the intra-family disclosure of genetic test results.
This strand of scholarship has explored the intra-family disclosure issue from the standpoint of patients and relatives but rarely, from the standpoint of healthcare professionals (Mendes et al. 2015). If we look at the work of McCarthy Veach et al. (2001) who identified in a focus group study, 16 ethical/professional domains encountered by genetic counselors in the United States: some of them deal with the questions of disclosure information to family members (withholding information, value conflicts, directiveness/non-directiveness, confidentiality). Bower et al. (2002) in US, Alliman et al. (2009) in Australia, Gschmeidler and Flatscher-Thoeni (2013) in Austria validated these domains in different national context.
We therefore felt it useful to interview the healthcare professionals engaged in familial disclosure of genetic test results with patients in France. The objective of the interview was to get a clearer picture of the challenges arising from the intra-family disclosure issue, its consequences in terms of medical care-service practices, and the stances that frontline professionals have taken in response to the legislative framework.
Legislative Context
To properly understand the contextual background of this study, it is important to start with how the legislative framework came into existence. The issue of familial disclosure of genetic diseases was first addressed in the law of 6 August 2004 as part of a wider reform bill dubbed “bioethics” law. The issue was sparked by the story of a family that had challenged healthcare professionals on their practices—specifically how they had handled the familial disclosure of genetic test results. In 2002, a young man aged just 22, died in exactly the same conditions as one of his brothers had previously died back in 1985 but without any established diagnosis reached. This death could have been avoided if his cousins had disclosed the fact that a child they had lost in 1995 had been diagnosed with an inherited genetic disease—ornithine-carbamyltransferase deficiency.
Ornithine-carbamyltransferase deficiency is asymptomatic until a severe and potentially fatal late-onset episode occurs. If a person is known to have the disorder, a specific diet can be prescribed that forestalls such episodes, and if it effectively manifests, then the appropriate care can be provided, thereby preventing a fatal outcome.
In 2003 during discussions in parliament of the draft bill to reform the 1994 “bioethics” law, Professor Arnold Munnich, head of medical genetics at Necker Children's Hospital, addressed MPs by citing this family's case and proposed a move from the legislature to “envisage an arrangement making it mandatory, in life-threatening cases, to warn at-risk relatives” (Giraud 2003, p. 70). The motion was reformulated to question the responsibility for persons who have been diagnosed with a serious genetic disorder, or predisposition, to advise other members of their family who could effectively benefit from treatment and/or preventive measures (Assemblée Nationale 2003). The National Consultative Ethics Committee (CCNE) was asked by Jean-François Mattéi, then Minister of Health, Family and Disability Affairs, “to consider the opportunity of introducing a clause obliging any person carrying or predisposed to a serious genetic disorder to inform their family” (p. 1) The CCNE turned down the motion, citing the need to safeguard confidence and trust between patient and the medical profession built on strict observance of medical confidentiality to facilitate dialogue between geneticist and patient, and heavily stressing the importance of not criminalizing failure to disclose (CCNE 2003).
-
Upholding the patient's right to choose between
- direct disclosure to relatives (the patient himself informs those family members identified with their doctor as concerned)—the doctor's role here is to deliver a written document serving as information support to guide the intra-family disclosure process; and
- indirect disclosure to collateral family (the health professional informs the family members, with the patient's prior consent)—when the patient does not want to know the diagnosis or does not want to have to personally inform his family.
- Allowance for cumulative conditions: the genetic abnormality diagnosed in the proband must be both serious and treatable or preventable. The legal text adds “genetic counseling” within the context of prevention, thus expanding the scope of these conditions compared to the previous version of the law.
- Planning for the eventuality of family disclosure in advance of the genetic test itself so as to talk about the potential risks for family members (including minors), about how the disclosure process can be handled, and so on.
- Also adding asking the patient whether they have previously made an egg or sperm donation, in an effort to forewarn children birthed from these gamete donations.
The reform thus looks to facilitate greater awareness, better disclosure, and a wider realization of the role of genetics in the care pathway of both patients and family. However, as underlined in a poster by Pujol at the 2013 ESHG conference (Pujol et al. 2013), only one-third of at-risk relatives of a proband carrying a BRCA½ gene mutation (hereditary breast cancer syndrome) performed a targeted test, which can be considered a huge opportunity loss due to genetic testing services falling short on familial disclosure.
Purpose of the Study
To explore this point we propose to question how healthcare professionals are engaged in the issue of familial disclosure in cases involving genetic diseases. What practices are employed? Has the law brought about any changes since 2004? Does the 2011 reform now make the law effective? Does the reformed law answer the legislative challenge initially raised back in 2003? Has it brought its own problems? Does it meet the concerns of clinicians to facilitate the communication of genetic information to kin?
Methods
Design
The objective of this qualitative research study is to gauge the self-stated stance adopted by French geneticists (doctors or genetic counselors) on the family disclosure issue and how it works in practice. This study was designed to interview familial disclosure professionals on the challenges they face, and get them to voice their reaction to the 2011 “bioethics” reform. The methodology chosen is based on semi-structured interviews (Blanchet 2007).
Participants
Study participants were selected on the basis of their professional experience as genetic counselors or clinical geneticists but also their engagement on the issue of familial disclosure or their role as representative members of genetics-related professional groups. They were identified step by step through analyze of the bibliography and discussions with genetics professionals. Eighteen professionals meeting these criteria were emailed to outline our project (gender split: 10 males and 8 females; profession split: 4 genetic counselors and 14 clinical geneticists). The content of the email specified academic nature of the research project, the duration of interview and methodology. Eight agreed to participate (gender split: 3 males and 5 females; profession split: one genetic counselor and 7 clinical geneticists). We prefer not to reveal specific information on the respondents not to risk making them identifiable in the French context. This research project was evaluated by the ethics committee CEPRS with the IRB number 20150600001072.
Procedures
The first author conducted eight semi-structured interviews, by phone, in the autumn of 2012. Each interview lasted 60–90 min (median = 68 min), with note-taking during the interview. The interviews were recorded and replayed to refine note taking. Each interview was then written up in depersonalized (ID-code-numbered) format.
Instrumentation: Interview Guide
The authors constructed an interview guide after a structured analysis of the law and the literature. The aim was to enable the interview to capture the issues raised by familial disclosure in medical genetics. The dual objective of these semi-structured interviews was i) to capture the practices and patterns of information disclosure to relatives in interviewee clinician and genetic counselor services before and after the law was passed, and ii) to identify the questions raised and thoughts prompted by the law in light of real-world practitioner experiences with patients. The interview guide was constructed to focus the interviews on each of the topics listed in Table 1.
| Disclosure of information to relatives in practice | • How long has the service been addressing the issue? • Procedures and guidance tools available • Health professionals involved • Ethical and practical issues raised • Difficult experiences |
| Relevance of the law | • Compared to patients’ needs. To what extent? • Compared to healthcare professionals’ needs. To what extent? • Ethical and practical implications of the law • Prospects and perspectives for further reform |
| Any difficulties created by the legal framework | • Scope • Clarity • Applicability |
| Target diseases or eligibility criteria in terms of: | • Seriousness • Treatability/preventability • Familial impact • Genetic counseling |
Data Analysis
The notes obtained from the interviews were analyzed by conducting a thematic content analysis from the theoretical corpus and a floating reading of the interviews (Bardin 2001). Authors analyzed each interview and then they compared their results. After several discussions the authors were able to identify the convergent and divergent positions on each interview point addressed.
Results
First, all the interviewees voiced their standpoints on the issue in a way that was fair and conducive to satisfactory completion of the study. We thus collapsed the analysis into 5 themes: the first on practical issues with implementing familial disclosure at genetic test labs, the second on the relevancy of a legal framework, the third on its effective applicability, the fourth on the indirect professional disclosure channel, and the fifth on persistent unresolved legal ambiguities.
Theme 1: Professional Disclosure of Familial Information Involving Genetic Disease
Medical Genetics: A Complex Array of Situations
The practitioners interviewed voiced their reservations over accepting any overarching law on genetic abnormalities. Their issue is that medical genetics spans a vast range of situations involving different diseases presenting different expression traits, penetrance levels and familial repercussions: “Genetics opens out into a vast panel of very different diseases with very different repercussions” said interviewee 1 (I1), and thus warrants a specific integrative methodology to unravel the complexity and causes of each situation investigated: map the patient's genetic genealogy, run a test if available, analyze and interpret the test results, disclose the information to the patient concerned and—if necessary—increase their awareness of the repercussions for their family: “Medical genetics leads exploration into familial genetic heritage, determines what it means for the proband, and guides the planning of an organized care management path. This integrative set of components makes the discipline impenetrable to outsiders”, added interviewee 2.
The inherently diverse range of situations makes it a complex task to elaborate norms or procedures, especially as most of the time the process requires collaborative input from the various different health professionals engaged along a patient's care pathway, not all of whom are trained in the many aspects of genetics and the consequences involved. Interviewee 3 asserted that “Medical genetics struggles to settle on a standard-template letter due to the diversity of the diseases and disorders involved and their familial repercussions in terms of seriousness and heredity” and “this diversity inherent to genetic diseases makes it even more difficult for doctors and genetic counselors to work together.”
Finally, the practitioners interviewed also emphasized how the different genetics services professionals share very different genetics knowledge sets. They deplored a lack of genetics knowledge ― in the words of interviewee 3, “Some doctors have little grasp of the notion of genetics: there is a huge gap between a specialist clinician and cases where genetic counseling is essential” ― and also a lack of recognition, not just for genetic counselors but also genetic testing centers, among non-geneticist clinicians prescribing the various tests that help characterize a person's genetic makeup — a gap that can lead to diagnostic delay or variable quality of information on a genetic disease and its impacts for both proband and collateral relatives: “Non-geneticist clinicians prescribing tests is a major problem in terms of information quality and therefore the information delivered to the people concerned.” revealed interviewee 4.
The consequence is that even when a genetic disease is diagnosed, the patients are not always—rarely even—referred to genetic centers: “one of the big problems is failure to refer patients to a genetics center post-diagnosis. For Turner syndrome, there is an exhaustive patient registry, but only 10 % of Turner patients make it to a genetic center, which condemns the vast majority of patients to insufficient access to care” said interviewee 2.
Disclosure of Familial Genetic Information: Implications and Implementation
Refocusing on the disclosure of familial genetic information and what a genetic disease means for the family, the practitioners interviewed claim that their patients generally appreciate the need to inform at-risk relatives. However, they accept the fact that diseases where familial disclosure is crucial are rare, as well as the fact that there is no single norm governing the disclosure process—in practice, disclosure happens on a patient-by-patient basis. Interviewee 2, for example, said: “Diseases where familial disclosure is effectively crucial are rare. Otherwise patients will only say what they want to say. The issue resides deep in the patient’s side, which means they need supportive counseling and persuasion.” This same geneticist claimed an unpublished survey conducted in the southeast of France found that 10 % of patients give full disclosure, 10 % say nothing, and 80 % pick out a relative.
Certain practitioners underlined the importance of time devoted to explanations at the first consultation and continued supportive counseling thereafter (I3), to the need for a second consultation once the results are in to educate on any repercussions for the family, and to correct any hasty or irrational fears or misinterpretations (I5) over the genetic disease diagnosed—or genetics in general—especially if the syndrome is treatable or preventable. The 2004 legislation prompted certain clinics to issue an information letter and questionnaire to double-check that patients have fully understood the situation (I4).
Even though the practitioners asserted that diseases where familial disclosure is crucial are rare, this does not negate the fact the familial disclosure remains vital in these cases, so when a patient exercises their right not to know or not to disclose, the healthcare professionals—bound by medical confidentiality—could find their hands tied, as witnessed by interviewee 5: “In some cases, we paradoxically end up in an impossible situation, caught between medical confidentiality, the right not to know, and duty of care.”
Measures introduced in clinics to facilitate familial disclosure appear ungoverned by any procedural norms. Some professionals have devised targeted procedures (psychologist–clinician tandem; pro-forma letters; informed consent… I3 and I6) while others state they adapt case-by-case to each individual–family situation, with varying degrees of attentiveness according to the seriousness of the situation and what it means for the family—“you have to go in hard when there is a life-threatening condition at stake and therapy to offer. We will give exactly the same information, but the seriousness involved will prompt us to be more attentive and push harder to get the messages through” (I7). In certain situations or certain populations, successful disclosure to relatives may hinge on finding the right “relay” person (e.g., head of the clan in Gypsy community), because “without the right relay, the disclosure process will not happen” (I8 and 5).
Disclosure of Familial Genetic Information: The Role of Genetic Counseling
The survey conducted in France on a subset of healthcare professionals engaged in genetics-related issues shows that genetic counseling is hazily-defined and hazily-scoped in both construct and practice.
One interviewee claimed that genetic counseling was for couples expecting a child and concerned by genetic disorder or couples wanting children but concerned over familial history of a genetic condition. “Genetic counseling picks up as second-line support when couples have already had a diagnosis for a first child, and generally after prenatal screening has been done. Genetic counseling is there to talk through the procedures—prenatal diagnosis, pre-implantation genetic diagnosis, gamete donation—when they want another child. Genetic counseling can convince women who have nephews presenting typical clinical signs to go and get screened. The aim, here, ultimately, is to avoid pregnancies at risk” (I5).
The other interviewees adopt a broader, more holistic view of genetic counseling, that is, to “discuss the consequences a diagnosis can have for a proband and their family and the reproduction or life-decision options available” (I2); to “explain complex genetic information in simple language, to enable patients to make their own informed decision” (I3); “Genetic counseling helps evaluate the risk of transmitting or developing a genetic disease” (I6). One frontline practitioner interviewed added that multifactor diseases should be sidelined for prenatal indication in order to leave the patient “ready to understand transmission pattern, heritability, recurrence, and risks for patient and family. Prenatal is a component, but not the whole story at all” (I7).
Interviewee 7 sums up the disclosure process in these terms: “genetic counseling aims to inform on the probability of developing or transmitting the disease and to get the wider family informed.”
Some have drawn up a genetic counseling session plan setting out topics to be covered, but claimed they end up adapting interviews in response to each counselee and their perceptions—especially their perception of risk, which will usually need to be gently negotiated over the course of the session: “there is no one outcome set for genetic counseling—the process takes a series of several encounters.” The family issue is brought up early, at the first interview, by mapping the patient's genetic genealogy. Next comes the diagnosis phase, then face-to-face disclosure of the test results, which may be framed under a roadmap for the family: which tests to run? Who to inform?
Given the genetics-factor context, its implications for families, and the disclosure practices of these medical services, what are the interviewees’ perceptions of what has changed in the French law with respect to the disclosure of familial genetic information? To what extent does the law address the material challenges cited?
Theme 2: Relevancy of a Law Governing the Disclosure of Familial Genetic Information
Greater Mobilization of Healthcare Professionals
Certain interviewees took the stance that there was no real need to legislate since informing patients of risks to relatives is part of professional duty, and developing disclosure support is part of professional practice (I2). The practitioners intervieweed nevertheless recognize that while the 2004 law has not reshaped grass-roots practices, it has led to much wider awareness of the familial factor and its implications for patients’ relatives (I3).
Some participants’ recognize that the law gives them something to fall back on in “those rare cases” where patients refuse to warn at-risk relatives (I1), to “counter refusals when the reasons are as much to do with family feuds, geographic separation, or fear of genetics and the allied denial as anything else” (I7).
In addition to bringing greater awareness and an alternative way out, the law has also brought about changes in certain medical or disclosure practices. “In those rare cases where the patient refuses to warn at-risk relatives, the law today offers a way around the problem—health professionals can now refer back to the law, even if it is still pending implementing orders” (I1).
In March 2009, with the implementing orders still pending, tutors and students on Aix–Marseille University's vocational master's in genetic counseling, conducted a focus-group regarding the disclosure of familial genetic information issue and co-hosted a national day-long session conference in tandem with parent associations. This focus-group set out with a dual objective: i) raise awareness among professionals; and ii) collate proposals for a standard-template memo. “The law sparked this focus-group and conference initiative,” “different standard-template memos have been drafted since the 2004 law and its 2011 reform” (I3).
From 2004 to 2011: From Lead Role of the ABM to Lead Role of Practitioner as Indirect Information Disclosure Channel
The founding law, as passed in its original 2004 version, provided grounds for indirect disclosure to at-risk relatives via the Agence de la Biomédecine [French national agency for biomedicine; ABM] in cases where patients refuse to advise them directly. Certain actors called this indirect channel “ridiculous” given the excessively complex issues involved in effective application. The implementing orders of the 2004 law never got past the drafting desk. In 2007, the ABM's policy council ruled that the law proved effectively inapplicable and a source of new problems and ethical issues.
Some practitioners interviewed in the present study, nevertheless saw it as a solution enabling time-constrained healthcare professionals to seek out at-risk relatives while preserving medical confidentiality, all within a procedurally reliable framework for the disclosure of familial genetic information (I3 and 5).
This solution was dropped from the 2011 reform. Now, it is the healthcare professionals following the patient who can—with the patient's consent—serve as intermediary to indirectly handle the disclosure of familial genetic information. “Some professionals see this intermediate facilitator role as a simpler option” (I6).
In short, the first version of the law has been judged very useful as a vector for raising awareness among medical staff, especially geneticists, on the professional disclosure of familial genetic information, and as a backstop in cases where patients refuse to warn at-risk relatives—all of which confirm its material relevancy. “The 2004 bioethics law has proved invaluable as it has served to usher in the notion of familial disclosure and given it a platform. It’s not a problem that the procedure with the ABM didn’t work —the important thing is that people are now aware and mobilized on the issue at hand” (I6).
Although recognized as relevant, does the 2011 reform remedy the practical inapplicability of the older 2004 version? How does it affect medical care-service practices? Have particular issues emerged? The following theme reflects interviewees’ perceptions concerning these questions.
Theme 3: Applicability and Issues Still Unresolved
Scope is Way Too Vast
The practitioners found the law too vast in scope and consequently too fuzzy in practice: for Interviewee 1 “the law has crept away from its original premises grounded in cases of life-threatening risk,” to now address “various special cases,” said Interviewee 6. “A law drafted, “for extremely critical cases” is now just “sticking plaster to patch up a bleeding wound […] We are losing sight of the crux of the issue: getting the information through” (I5).
The fact that successive parliamentary readings and re-readings led to the gamete donation issue becoming tacked onto the final draft of the law was cited as a sign of how the lawmakers prefer to hide behind an umbrella solution hoped to cover all situations but disconnected from the realities of frontline practice and the physician–patient relationship. “You can always ask the gamete donor whether they know they are carrying a genetic disease, but geneticists will never ask a proband if they have donated gametes in the past!” (I2).
Educating Patients on Familial Disclosure Before the Test: Difficult to Put into Practice
“You start with a diagnosis, that gives you a prognosis, and only then can you start talking about relatives […] It's impossible to outline the risks involved before you have a diagnosis, before you known the mutation you are talking about” (I6).
This pre-counseling and its practical forms appear more appropriate to oncogenetics services “where a cancer has already been diagnosed and the next step is to identify whether or not it is a family cancer syndrome” […] That said, in cases like fragile X syndrome, for example, we run 10 exams a week [in the ward] which gets you one diagnosis every 2 months: we cannot be expected to deliver pre-counseling on an issue that will ultimately not be of concern to that many people” (I6).
The overriding message from the practitioners is that educating patients on the risks of refusing to warn at-risk relatives only becomes a meaningfully realistic option (frameworks guiding the communication process, and degrees of family relationship concerned…) “once a diagnosis has been ascertained and its consequences—and thus the familial risks involved—have been assessed” (I4).
The legal requirement to issue a doctor-drafted document at the very first consultation seems to be unfeasible in practice, as the practitioners generally start drafting a letter once the consultation is over “to go back over what was said and draft the letter based on what we learned from the patient” (I3).
That said, practitioners did feel it important to have some kind of document support ready prior to interview to help “prepare for the results appointment, underscore the familial nature of the disease, and think ahead to the [post-diagnosis] genetic counseling appointment” (I3).
Theme 4: Indirect Information Disclosure Channels: Attractive Option
Despite the reticence voiced above, most of the professionals interviewed find it reasonable to serve as facilitator in cases where the patient is effectively unequipped to do so. “Anonymous contact looks like a rational and reasonable way out, because you can’t just leave people in the dark, and they too have a right to decide whether or not they want to know. Still, we try to explain that it is better that the information goes through the patient—it’s more efficient, more reliable, and less of a shock” (I7).
That said, the practitioners did stress that if patients fail to give doctors consent or if relatives fail to show up, then there is no other way forward, and no way to check that the information has been disclosed: “If the patient has lost contact with a family member, then the geneticist can’t get hold of their address, either” (I8), “not without leading an intrusive investigation, which is neither the remit nor the mission of healthcare-professional support to patients” (I3). One practitioner even went as far as claiming “that people never actually tell you they don’t intend to inform their relatives” (I5).
Risk of Over-Formalizing the Disclosure of Familial Genetic Information
The practitioners expressed fear that the physician–geneticist's lead role will slip into a kind of formalization that is ill-adapted to patient needs and counterproductive to improving the disclosure of familial genetic information: documents to be handed over, contact details to collate before diagnosis and definition of the nature of the risk for relatives, bringing patients in for interviews without any information other than a signed-for letter.
One clinician voiced concern over the way patients are going to experience these situations: “Imagine, sticking to the letter of the law, the doctor delivers the information with a pro-forma letter… just atrocious!” (I5).
The act of asking the patients for “all contact details in their [the proband's] possession” (specifies the law) was qualified as “grotesque, as the problem creates a loophole—it only really becomes a problem for contact details that the proband is not in possession of; the person could always claim they didn’t have the details, which would only further substantiate their non-communication. It’s just pure hypocrisy!” (I6).
A Definitions Gap
For the present sample of practitioners, even after reading the law, a number of questions go unaddressed due to gaps in the definitions. The law fails to clearly articulate the boundaries of situations concerned by disclosure of familial genetic information. Does it now cover any and all genetic diseases?
The construct of “seriousness” is not defined, its interpretation thus left to the discretion of the professionals who “prefer to withhold judgment,” said interviewee 1. The issue of seriousness in the law echoes the diseases that threaten the health of family or children and their consequences: handicap, suffering, material burden. Short of arriving at a definition of “serious genetic abnormality,” the practitioners nevertheless concluded that it was possible to define levels of seriousness or threshold criteria: life-threatening, urgency, previous history, penetrance, impact of heterozygosis… (I8, I7, I3, I4).
There is even a need to define family itself: who, exactly, is family? What degree of blood relation should be required when considering inclusion in the family? Is it the patient who determines which relatives should be advised? Is it the physician–geneticist?
The position of the add-in clause “including genetic counseling” added to the law at the same juncture as the healthcare treatment or prevention measures dictating whether disclosure of familial genetic information is required—a clause that, as shown above, comes without a clear definition—raised some concerns: “Does it imply the inclusion of all genetic diseases? What level of risk should be considered? Which subset types of prescribed genetic testing are we talking about?” were questions raised by practitioner 6. “Take genetic counseling—where does it stop? Should it extend to cover genetics as a whole? That would be a no–no!” reported interviewee 5.
However, other practitioners felt that the addition at least brings recognition of genetic counseling as an allied health profession—“doctors will realize that it is a profession in its own right” (I7)—although the majority did note that its position in the law could easily lead to misunderstandings.
Some practitioners underlined that it creates confusion over the meaning of “prevention”—does it mean that prenatal diagnosis and its consequences, such as medical termination of pregnancy, should be considered? The majority of the practitioners interviewed indicated they would be against using the prenatal diagnosis and its consequences as a preventive strategy.
“Whereas prenatal diagnosis fell outside the scope of the 2004 law, with the 2011 reform, even though not explicitly cited, it is implicit in the articulation of ‘serious genetic abnormality’ with ‘genetic counseling,’ because for a lot of people, genetic counseling is synonymous with prenatal diagnosis or even pre-implantation genetic diagnosis for any new pregnancy. Prenatal diagnosis is basically proposed when a condition is untreatable, but even when there is treatment, we still propose prenatal diagnosis based on context and collegial cross-consultation decision. Prenatal diagnosis can ultimately prompt medical termination of pregnancy and thus become to all intents and purposes a de facto prevention measure” (I3).
One practitioner admitted that they “wrap prenatal diagnosis into prevention policy—otherwise the law would only encompass cancer and a handful of other diseases” (I6).
The rest of the sample did not consider prenatal diagnosis as a prevention measure, but where does the law stand on the consequences of informing on prenatal diagnosis? Theme 5 reflects the sample's perspectives on this question.
Theme 5: Confusing Legal Aspects
The moral and legal liability of a person who fails to communicate genetic risk to her or his family is not clearly defined in the legislation, neither for the proband nor for doctors when their patients have authorized them to disclose the genetic information in cases where they were unable to contact the relatives concerned. The practitioners interviewed claimed they would have issues with “having to tell the patient that their failure to disclose could be held against them in court—this kind of censorship may well be outside our remit” (I5). What they most clearly advocated is “devoting enough time for supportive counseling and explanations to the patient to increase their understanding and awareness of the repercussions for the family” (I3).
Discussion
Practical Implications
Healthcare professionals interviewed on their professional disclosure of familial genetic information practices cited a complex array of situations and allied familial implications that make it difficult to create standardized protocols. They also described their perceptions of the stakes and challenges involved in the disclosure of familial genetic information: stakes for patients where the information can in some cases prove a vital medical necessity, and challenges to healthcare professionals—bound by medical confidentiality—when they are asked to deal with a patient exercising their right not to know or not to disclose information. The law has tried to resolve these difficulties. When first passed in 2004, the bioethics law instantly sparked heightened awareness across the healthcare community about the professional disclosure of information to relatives, even though it was not effectively applicable. However, even today, there is a feeling the law as it stands is too comprehensive or too complex to effectively enforce.
First, the interviews revealed that the clinicians interviewed deplore an endemic lack of understanding and recognition of genetics as a medical discipline within the French healthcare system, and a lack of interfacing with connected specialized genetics centers, which is seen as the cause behind the failure to further integrate genetics into a number of care pathways. Of note, in France since 2004, the year of the implementation of the legal framework for the profession of genetic counselor, the counselor's role is in the lead-up to the test while the clinical–geneticist's role is to prescribe the test and deliver the result (Cordier et al. 2013).
Another point concerns the different health practitioner encountered by the patient: they do not all share the same professional practice and so may not share the same grasp of the finer points of genetic information. The consequence for both patient and relatives can be a deficit in information concerning the consequences of the diagnosed disease—consequences that nevertheless remain pivotal to the disclosure of familial genetic information.
These findings raise the question of how the disclosure of familial genetic information is effectively implemented in practice. All of the participants emphasized a diversity of the situations encountered and therefore of modalities, which have to be adapted according to age of proband, genetic disorder involved and its associated consequences. A further question raised concerns the cultural origins of the families, which brings in both the proband's receptivity to the information and their family structure—both of which can prove barriers to the disclosure of genetic information of concern.
The present results thus suggest that measures introduced in clinics to facilitate familial disclosure appear ungoverned and ungovernable by any procedural norms. All interviewees stated that for the time being, and contrary to stipulations of the new law, their clinics tend to tackle the disclosure question at the results summary appointment rather than early on in the pre-counseling phase (oncogenetics services may be an exception to the rule).
However, practitioners conducting the first-encounter, pre-counseling could naturally raise the disclosure issue when checking the patient's family history or when mapping the patient's genetic genealogy as a way to highlight how the genetic disorder screened for may also be shared by other family members. The clinician could then explain that once the tests results are in, the mode of transmission of the disorder and its consequences will dictate what levels of relatives need to be informed. Here, genetic counseling emerges as the natural forum to help facilitate understanding of the disease, its mode of transmission, and its potential familial consequences. It would be useful to pilot this proposed approach in different wards and clinics and with different genetic syndromes in order to confirm or disconfirm its feasibility.
The results of the present study indicate that the time devoted to explanations is crucial. The time devoted to the first interview and continued supportive counseling thereafter is a key factor for successful patient-led disclosure of familial genetic information. The time devoted may help even a recalcitrant patient agree to disclose familial genetic information to their family, rather than relying on the doctor to step in.
Participant in the present study believed genetic counseling remains a fairly nebulous concept. There is a need for clarification in terms of the scope and positional role of genetic counseling in the wider patient care pathway—including promotion of better communication of familial genetic information. In a changing context of genetic expanding, professionals to specify their role should handle this matter. They must be helped by ethical, legal, and sociological studies.
Quizzed on the bioethics law, the practitioners agreed that it is materially relevant but fear it could be a premise for over-formalization. A number of practitioners believed the indirect channel should legitimately go through the care staff and not a centralized organization like the ABM (as was the case under the original 2004 law). However, they voiced concerns over the spread of responsibilities and liabilities among the actors involved. That said, a study conducted by Laurent Pasquier in 2012 for his master degree at the University Teaching Hospital of Rennes found that practitioners would welcome a move to use coercive liability as a way to prevent patients refusing to advise relatives. Civil liability charges can be brought for civil tort, that is, unfairly causing someone to suffer loss or harm (personal communication).
This same study also found that most of the practitioners surveyed welcomed the option of indirect disclosure through the physician: “Doctors, through their education and function, will effectively find it difficult to accept they cannot take action to inform or manage a potentially preventable or treatable disease. Note too that several geneticists report a new narrative shifting away from a bilateral doctor–patient relationship and towards a more multi-lateral doctor–family relationship” (L. Pasquier, 2012, personal communication).
Certain interviewees in the present study expressed concerns over a series of amendments to the spirit of the law between the first bill read before parliament in 2003 and the 2011 reform. The original purpose was to save lives by facilitating the disclosure of familial genetic information. The question today is whether the law has now expanded to encompass genetic diseases that take it away from this original purpose. Prompting these doubts, as expressed by some of the interviewees, is the addition of the words “including genetic counseling” which appears to count all genetic diseases plus prenatal aspects among the criteria governing the obligation to disclose genetic information of concern to the family. Likewise, “seriousness” is a term open to several definitions and could thus elicit different interpretations of the scope of the law.
Note that an act (Legislative Decree 2013) and implementing order (Legislative Order 2013) have been published since this study was conducted. These legislative amendments add procedural provisions governing the disclosure of familial genetic information. These provisions set out the list of information items to be recorded in the candidate proband's medical records, and frame dialogue and exchanges between different doctors over the course of the procedure. A legislative order published in 2013 included a standard-template memo for information disclosure to family members by any doctor assigned to make the disclosure (Legislative Order 2013b).
The latest text published late in 2014 attempts to provide criteria for integrating “seriousness” as a factor, criteria for differentiating treatment and preventive care measures from genetic counseling measures, criteria for identifying the family members effectively concerned, information to be given in cases where the proband refuses to disclose the information, and the forms of support offered to guide probands through the process of self-communicating the information of concern to their families. The various legal texts drafted since the interviews reported herein were conducted have visibly cited or addressed many of the issues raised (Legislative Order 2014).
We find that a number of points captured in this study require deeper clarification in order to meet the original goals of the law and the expectations of practitioners. The implementability of the legislation needs to be reconsidered for a number of issues—the nature of genetic testing and its consequences in terms of disclosing results to next of kin; the issue of the role of genetic counseling in the disclosure process; the issue of prescription by non-geneticist clinicians; practical issues tied to quality and procedural governance of information content, consent and continued medical follow-up; and the roles of patient associations.
Study Limitations and Research Recommendations
This study is based on a relatively small number of interviews, so the findings are not necessarily representative of all genetics professionals in France. Mitigating this limitation is the fact that all the practitioners interviewed occupy roles and responsibilities in professional practice or academic communities, which enabled us to get responses that are relevant and informative to the debate over the issues involved. This qualitative study was designed to build the foundations of a wider-scale analysis. Another limitation stems from the fact that the decrees and implementing orders discussed had not yet been published at the time the practitioners were interviewed, and so the practitioners’ positions may have changed since.
To pursue further debate on the issues studied herein, we have built a multidisciplinary research project (integrating legal, ethical and ethnographic analyses and approaches) designed to accomplish three objectives: (1) to capture the questions posed by field practitioners, (2) to delve deeper into the grey-area issues facing an array of medical professional sub-disciplines concerned by the disclosure of familial genetic information, and (3) to question the professional–patient interface on this fraught issue. One axis of this project is to use the preliminary findings from the present study to build a broad-release questionnaire addressed to professionals so as to quantitatively and qualitatively explore the implementation of family disclosure in cases involving familial genetic disorders and the ethical challenges raised by both top-down legislation and bottom-up real-world practices. The target audience for this project is not just geneticists and genetic counselors but also non-geneticist clinicians.
Conclusion
The legal ambiguities that emerged herein may reflect ethical ambiguities the practitioners were unwilling or unable to resolve. This is precisely where ethical reflection should take primacy, when different visions of the identity and dignity of the human being collide. Identifying and exploring these ethical ambiguities is a vital step towards empowering healthcare professionals with a real-world framework in which to perform their primary mission, which is to deliver patient care. Note that the ESHG policy statement on whole-genome sequencing states that further guidelines need to be established to frame the issue of disclosure to family members—an issue compounded by these new whole-genome technologies (Van El et al. 2013).
We cannot understate the importance of getting genetic information disclosed and the material relevancy of the law in cases where disclosure can effectively save lives, but there is also latitude to question the scope of the law. There is a dilemma and a conflict of interests when the protection of a fundamental individual right (here, medical confidentiality and data privacy) is at odds with the interests of a third party. This law attempts to make two conflicting principles cohabit, but fails to meet all the challenges to norms of practice in the disclosure of familial genetic information. We are at the crux of a debate opposing individual and collective responsibility, with the healthcare professional—as actor in disease prevention and in matters of public health—at the center, caught in the crossfire between acting in the interests of the general population and acting in the interests of their patient and family.
Acknowledgments
The authors thank the Agence de la Biomédecine, the Cancéropole—Ile-de-France and the INCa for funding the research project “Implications and implementation of family disclosure in familial genetic disorders 2013–2015”.
Conflict of Interest
Diane d'Audiffret Van Haecke and Sandrine de Montgolfier declare that they have no conflict of interest.
Human Studies and Informed Consent
All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (5). Informed consent was obtained from all patients for being included in the study. Additional informed consent was obtained from all patients for which identifying information is included in this article.
Animal Studies
No animal studies were carried out by the authors for this article.
