Familial disclosure of genetic information is an important, long-standing ethical issue that still gives rise to much debate. In France, recent legislation has created an innovative and unprecedented procedure that allows healthcare professionals (HCPs), under certain conditions, to disclose relevant information to relatives of a person carrying a deleterious genetic mutation. This article will analyse how HCPs in two medical genetics clinics have reacted to these new legal provisions and show how their reticence to inform the patients’ relatives on their behalf leads them to use this option sparingly.
- family communication
- breast cancer
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Familial disclosure to relatives is a central issue arising from ‘new genetics’, that is to say from biomedical practices that came up with gene sequencing since the 1970s.1 Whenever a harmful genetic mutation is identified in an individual, it raises the question of whether other family members are also carrying the mutation. In such cases, disclosure of this information gives relatives the chance to have familial testing and to seek the relevant care, prevention or counselling services, especially for late-onset diseases. However, people sometimes find it difficult to pass on this sensitive information,2 3 even though the medical consequences of withholding it can be serious, thus giving this health issue an important ethical dimension. Since the 1990s, there have been many studies on raising awareness of the importance of familial disclosure and supporting individuals in this task.4 5 What lies behind this question is the threat of legal proceedings between relatives and healthcare professionals (HCPs), as has been the case in the UK.6 To address this ethical and legal issue, France implemented a bioethics law in 2011 which aims to protect HCPs from potential lawsuits brought against them by relatives.7
This legislation was innovative because it enabled HCPs, at the patient’s request and on their behalf, to directly disclose to relatives a diagnosis of a pathogenic variant associated with a serious disease for which prevention and/or treatments exist.8 Legally, ‘the person is required to inform the members of their family who are potentially affected […]’. However, if the person does not wish to do so themselves, then they are legally entitled ‘to make a request in writing to the prescribing physician, who will acknowledge the request and that they will provide this information’.1 Since 2011 in France, people having genetic testing have two choices: to inform other family members themselves or to authorise a HCP to do it. In the first case, the person being tested becomes liable if they knowingly withhold information from family members. In the second, the HCP uses a generic letter which was government-approved in 2013, provides good-practice guidelines and transfers liability for disclosure to the HCPs.2 With this legal provision, which is intended to forestall the failure of intrafamilial communication, the patient does not have the option to refuse consent for their relatives to be informed. This emphasis on patient responsibility to decide is, as far as the authors are aware, the first in the world.9 10 In Australia, for example, HCPs can legally disclose genetic information to a genetic relative if they reasonably believe that disclosure is necessary to lessen/prevent a serious threat to the life, health or safety of the genetic relative. Patient consent is not legally required11 if HCPs have tried as much as reasonably possible but have been unsuccessful in obtaining patient consent; the choice to inform rests entirely with the HCP. Among the issues brought about by the Law, knowing whether it is being used is a crucial one. To what extent does this legal provision enable the social actors involved to overcome the difficulties encountered in disclosing genetic information to relatives? In practice, is it a useful resource for those routinely confronted with this concern?
Since 2014, we have been conducting fieldwork on the implementation of this legal provision in genetics clinics, as part of a multidisciplinary research project.3 The objective is to follow the negotiation process between HCPs and laypersons in order to adjust the legal norms to local and familial ethical practices in relative disclosure. For this purpose, we conducted ethnographic-type fieldwork using direct observations and interviews during prolonged immersion in two genetics wards. Between May and December 2014, we worked in the oncogenetics unit of a cancer care centre in the Ile-de-France region of France, where we followed the unit’s daily activity (three geneticists and two genetic counsellors), attended genetic multidisciplinary consultation meetings (n=19), observed patient consultations (n=93) and conducted a series of non-directive interviews with patients in the unit (n=29). Selected patients were diagnosed for at least 6 months and monitored by the cancer centre’s gynaecologists. At least a week before their follow-up visit, these patients were sent a letter that asked them for an interview and that provided information on the research and the interview conditions. Thereafter, we continued our work between January and May 2015 in one of the leading red blood cell genetic disorders centres (Ile-de-France region). Focus was placed on interviews with geneticists (n=4) and patients (n=39) and in this case, patients were recruited during their hospital visit for a phlebotomy. The long duration of this technically simple treatment made it possible to interview patients who were willing to recount their disease narrative. All HCPs from both units were interviewed.
In this study, we focused on two types of genetic disorder: predispositions to hereditary breast and ovarian cancers (HBOCs) linked to a pathogenic variant of BRCA1 or BRCA2 genes, diagnosis of which made up three quarters of the activity of the first clinic. Based on extensive epidemiological studies, the cumulated risk of developing breast cancer before the age of 80 for women carrying a deleterious genetic variant of BRCA1 is estimated to be 72% (BRCA2 69%) against circa 12% for the general population. Similarly, the risk of ovarian cancer before the age of 80 increases to 44% for BRCA1 and 17% for BRCA2 against circa 1% for women not carrying the pathogenic variant in either gene.12 The cumulative risk thus increases very significantly for these cancers, which have 5-year survival rates of 75% and 30%, respectively. Today, this increased risk can be addressed by preventive medical care in the form of radiological monitoring and/or prophylactic surgery. This genetically increased risk of HBOC in this context is a dominant trait and therefore concerns a large number of people in a family. HCPs therefore consider familial disclosure to be an essential part of prevention within families.
In the red blood cell genetic disorders clinic, we chose to focus on haemochromatosis. This recessive autosomal metabolic disorder is characterised by the excessive storage of iron in the body, which can progressively lead to irreversible liver damage (steatosis, cirrhosis and cancer). The disease evolves slowly and silently, and late diagnosis can jeopardise successful treatment by phlebotomy, which is simple, inexpensive and efficacious. In France, population screening has long been a subject of debate.13 With a prevalence ranging from 1/1000 to 1/200 according to the region,14 haemochromatosis is the most frequent genetic disorder in France and with around 42 000 genetic tests that have been carried out, it is the disease for which genetic testing is most frequently prescribed in France.15
The data collected underwent a transversal thematic analysis developed according to the inductive principles of grounded theory.16 We coded different themes including ‘informed consent’, ‘willingness to inform’ and ‘indirect way’. Emergent categories such as ‘HCPs reticence’, ‘expressed consensus’, ‘information difficulties anticipated’ and so on were identified. This led us to interpret data in the symbolic interactionist theoretical framework17 allowing us to understand how the information process is more socially negotiated by individuals rather than regulated by law. We then selected relevant cases to show that the French legal way of indirectly informing relatives only appears to be useful in a limited number of cases. The results were discussed with multidisciplinary experts during two workshops organised during the research programme.
Negotiating responsibility during consultation
Probands willing to inform members of their family
The observations made during consultations suggested a marked preference among probands (persons tested) to personally inform family members about a deleterious genetic variant. This preference was clearly expressed when signing the consent after the initial information consultation.18 In France, the legal framework governing familial disclosure requires HCPs to ask probands to state, in writing, their preferred method for disclosing genetic information to relatives. In the clinic under study, for example, the consent form had two options: ‘I myself would like to inform the members of my family who are potentially affected by the results of the genetic test’ and/or ‘I would like Doctor X to inform on my behalf the members of my family who are potentially affected that there is medical information of a familial nature that may affect them’. All participants chose the first option and often freely told the HCP of their willingness to choose this option, with assertions such as ‘I’d rather do it’, ‘I think we’ll do it. We’ll warn them’, ‘I’ll tell them myself’, ‘No problem, I’ll do it’.
However, this unanimity does not mean that probands felt the familial disclosure was a simple matter. On the contrary, the above declarations of intent were at times accompanied by explicit anticipation of expected difficulties. For example, one patient (aged 41, breast cancer diagnosed the previous year) stated, ‘I’m going to do it myself… Although with that side of the family I don’t know how they’ll take it…’ (19/05/2014). Sometimes the difficulties were directly anticipated, as exemplified in the following excerpt of a patient’s (aged 58, breast cancer in remission for 3 years) reaction to a consent form:
Patient: —‘In the family’, but how far? [19 paternal siblings and 7 maternal siblings]. Let me tell you, I’ve had quite a lot of trouble. So this little breast cancer, this little ‘thing’ I had, I decided not to talk about it. I’ve spoken to my children and my sister, but that’s all. [Stops reading] I’ve got to talk to my aunts? Is that important?
Genetic counsellor: —Aunts, yes. But especially their children [aunts are quite old]: cousins, male and female, and their children… […] So here [showing the form], we’re asking you if you want to do it yourself or if you want someone in our team to do it for you…
Patient: —No, I’d rather it was me, I’m sure about that.
Genetic counsellor: —We’d also rather it was you. Of course we won’t be spying on you to make sure you’ve passed on the information.
Patient: —No, of course it’s down to me.
Genetic counsellor: —But it’s definitely important.
(Consultation with familial index case, age 58, breast cancer at age 55, carrying BRCA1 mutation, 14/06/17)
Despite the potential difficulty involved in the duty of familial disclosure in the case of a hereditary genetic predisposition to her breast cancer being discovered, this patient clearly asserts her preference for disclosing the information herself rather than the HCPs in the clinic. Whatever the reasons for that preference [see 3 for more insights on this point], it can be noted in this dialogue that the patient’s choice is in line with the genetic counsellor’s stated preference: ‘No, I’d rather it was me, I’m sure about that’/‘We’d also rather it was you’. This harmony of preferences deserves closer examination.
Healthcare professionals’ reticence to personally inform genetic relatives
The HCP expressing approval for a proband’s choice is a noteworthy feature of the consultations, as ordinarily, HCPs do not often state their preferences during a consultation. In the consultations observed, the HCPs clearly supported the proband’s preferences with comments like: ‘We’d also rather it was you than a photocopied letter’ or ‘We’d also prefer that, for the sake of medical confidentiality’ or ‘The simplest way is obviously that you do it’.
During this study, many HCPs questioned the appropriateness of informing, by registered letter, people who were presumably unaware that the tests were being done but who were potentially concerned by their results. In the following interview excerpt, a geneticist expresses concern about how relatives may be affected on receiving the letter:
It’s true that it can be quite distressing, because the letter is anonymous: it’s a genetics centre that’s identified by a number, and it says someone in the family has a genetic predisposition… it doesn’t say who… Getting a letter like that is quite upsetting, I think. (Interview, geneticist, 16/01/21)
It is often the ‘brutality’ of a letter announcing the existence of a serious but indeterminate health risk that is generally criticised by HCPs and indeed in contemporary counselling norms for announcing serious illnesses.19 As the same geneticist goes on to suggest, this disclosure is ‘certainly not easy, either for the person receiving the letter or for the person sending it’. Breaching norms implicit in the exercise of their profession thus compounds the empathetic unease felt by the HCPs at the relatives’ plight.
During an interview, a physician (for the diagnosis of haemochromatosis) described one problematic case he had been faced with for several months. A patient with a rare, severe form of a dominant-trait disorder was refusing to inform four maternal at-risk aunts with whom he was ‘on bad terms’ according to the physician. Although this episode occurred before the change in the law, the patient asked a HCP to inform the aunts for him. The HCP talked about this unwelcome task:
He gave me an address, but it’s not up to me to go and tell his aunts. It’s his responsibility according to the rules, it’s the patient himself who’s supposed to inform the relatives, it’s not up to the doctor to go and see relatives, even if they do have the address. (Interview, Geneticist RCGD 3, 15/02/24)
For this physician, the indirect way of disclosure ran against medical ethics whereby a physician should respond to a client’s request for care but not do their bidding. Therefore, this patient’s file had been in limbo for months while the physician tried to decide what to do about the task assigned to him by his patient.
The file’s been hanging around for a year. I ought to go and do it (…). But generally we don’t like running after people. We don’t like calling them in, you see. So things get put in suspense.
Our observations showed that the red blood cell genetic disorders clinic under study focused on the clinical dimension of care and subordinated the question of familial disclosure, which is quite different from oncogenetics centres. As one physician said, ‘It’s not top priority here.’ For another, familial disclosure is a matter of trusting the patient to inform family members, rather than a standardised institutional procedure:
I can see that with our workload, it’s totally unrealistic to think we’re going to send letters left, right and centre to all the relatives. (…) On matters that aren’t urgent, I don’t see why we can’t trust people. I’m not convinced that it’s us who should be telling our patients’ families. One, it’s doom-mongering. Two, I’m not sure it’s effective. And three, it also means reporting back and paying people to make sure that other people are doing their jobs properly. (Interview, geneticist RCGD 2, 15/02/20)
Like many HCPs, the new French provision for familial disclosure of genetic information is criticised for the additional workload it entails: ‘It’s work. That would mean more work…’. Hospitals are subject to continued budget controls and cuts, and clinics often have no reserve work capacity. How can patients’ families be informed under these conditions? For this physician, applying the law would mean recruiting professionals to oversee the procedure. Accordingly, this physician calls on the traditional virtue of trust as forming the link between carer and patient, whereas others prefer a negotiation process conducted during the consultation.
The social construction of consensus
During the consultations observed in oncogenetics, we noted the HCPs’ considerable efforts to provide information and raise awareness about the importance of familial disclosure.18 Considerable time (10–15 min in an initial consultation lasting on average 45 min) was spent explaining the genetic mechanisms by which the risk is transmitted and the implications for the family, but the question of how familial disclosure should take place was only briefly addressed. It usually came up as one question among many others during the signature of the informed written consent form. Most often, the HCP did not dwell on the issue and usually just read aloud the relevant passages from the form. In only 1 out of 42 initial consultations observed, did the HCP discuss the legal framework, for example:
It’s recently become law. Before, genetics was a personal issue, private. But genetic information also concerns the family, and there have been cases where people have died who could have received care if they’d known sooner. So now we ask you if you’ll take charge of informing your family. (Consultation, Genetic Counsellor, 15/06/17)
Besides mention of the law, we note in particular how the ‘choice’ between the two forms of familial disclosure is presented: ‘So now we ask you if you’ll take charge of informing your family’. That the second option (the one when HCPs inform relatives) is avoided reveals the unease surrounding this possibility. Thus, HCPs do not draw attention to this option, apart from when the relevant paragraph is read out loud. Instead, focus is placed on the fact that they will provide a standardised letter to help the patient to inform their family. Further, when this second option is presented, the HCPs’ awkward wording often betrays unease:
Then (continues the presentation of the consent form) there’s a part that confirms that we’ve shown you how important it is to inform your family. We’ll be able to help you, with documents, of course, but also with contacting… Or else you do it yourself. Both options are possible. Obviously, for your relatives, being told by you or getting an anonymous letter… Unless you’re on bad terms… In any case we can do it… (Consultation, Genetic Counsellor, 14/05/20)
As shown in this excerpt, HCPs are uncomfortable about the provision made in the bioethics law that empowers them to intervene directly in their patient’s family life. An analysis of the transcripts referring to this option indicates that (i) it is seldom stated and (ii) when it is stated, all effort is made to dissuade the proband from choosing it. This is explicit in the following excerpt in which a geneticist talks somewhat provocatively about her practice:
On the consent form it says ‘I will inform the relative myself’, so they tick it. Or, ‘I would rather not inform my relative, and in that case the doctor can do it.’ I laugh and say, ‘No, please don’t tick that!’ Because presented that way it can mean ‘well, if you can do it, then why should I have to?’ I usually say, ‘With what you’ve told me, in your case, it’s ‘I will inform’. Sign there. (Interview, Geneticist IC-3, 16/01/21)
Although this example, recorded in a very open interview format is probably exaggerated, we can discern what might be one reason for the persuasive presentation made by HCPs of the direct way of disclosure, namely to avoid any possible misunderstanding of the purpose of the indirect way, which, according to the professionals, may be chosen by some patients as it is the option that entails the least amount of effort.
All these elements thus outline a reticence among HCPs to take on familial disclosure at the proband’s request. Does this then mean that the HCPs regard the provision to be unhelpful? Are cumbersome procedures imposed on often already overstretched clinics, concern for relatives informed by faceless, enigmatic letters and the broad diversity of the genetic contexts encountered sufficient grounds for rejecting this way of disclosure?
‘Last resort’ use of the institutionalised disclosure provision
As suggested by the aforementioned case of dominant-trait hereditary haemochromatosis, there are situations in which the institutionalised way of familial disclosure can be justified. Such situations are infrequent and we recorded only a few in the course of our 2 year fieldwork. However, these cases seem sufficiently noteworthy to merit further examination. In this next part, we will argue that in implementing French law, it is necessary to ‘think by case’,20 that is, think about how a general legal provision can be of value when applied in appropriate specific situations. All the cases mentioned here concern oncogenetics, the sector in which the process of applying the law was most advanced at the time of study.
A case of deadlock
We begin with the case of T., discussed by HCPs at a multidisciplinary consultation meeting:
Gynaecologist: —Here we have T., age 54, a carrier of a BRCA2 mutation. She has no cancer. She has two daughters aged 29 and 25 she’s still not told them about this mutation she has. We’ve talked about it. It hasn’t moved forward much. We’re leaving it there. A report was already made at a multidisciplinary consultation meeting on this issue in 2011 by [another gynaecologist at the centre]. I’m not happy about it. What do we do in such cases? Her sister had cancer young. I asked her casually, ‘What age?’ She answered, ‘35’, but she didn’t catch on…
Head geneticist: —Can the information be passed on between cousins [any daughters T’s sister might have, T being the familial index case]?
Gynaecologist: —No, the aunt died without any children.
Genetic counsellor: —How long has she known? [reads the file] 2003? We didn’t provide the letter [for the family] back then.
Head geneticist: —I propose that we write to her and say there are new provisions for passing on the information. That she has to inform her relatives. That it’s her responsibility and that we have new ways to help her do this, and we give her the letter (the one given to help probands willing to inform relatives themselves) at the same time. We have to unburden her a bit because she must have feelings of guilt about what she has. […]
Genetic counsellor: —Could we send the generic letter?
Head geneticist: —We could propose the second option, that we inform her daughters (through the legal generic letter), but it doesn’t seem right to me…
Geneticist: —We could offer that option too. It’s not for us to judge.
(Fieldwork notes, 14/06/16)
As shown in this exchange, the regular monitoring of at-risk women at the centre offered an opportunity to follow discussions on familial disclosure. Aged 19 when her mother underwent genetic testing, the woman’s elder daughter, now aged 30, should start close monitoring for breast cancer if she is carrying the pathogenic variant present in the family. For her, and for her younger sister aged 25, it is important to be informed about the familial risk so they can choose preventive measures. Having said nothing to her daughters at the time she was tested, T recoils at the prospect of telling them about this genetic risk 10 years later. A first alert given by another gynaecologist at the centre proved fruitless. She did not turn up to the centre’s psycho-oncology clinic where she had been referred. The HCPs identified this as ‘a form of denial’, a tendency to infantilise her daughters, or to be trapped in ‘lying by omission’. The generic letter provided for in the law seems here to offer a last-resort solution, despite some reservations.
A case of a request not followed up
As we have seen in the previous example, HCPs’ reticence at using the indirect way of disclosure can be seen in their tendency to exhaust all possibilities of direct disclosure first. The case of K is a perfect example of this tendency, although her history predates the new law. Diagnosed with a breast tumour at the age of 40, this unmarried nurse, with no children, whose paternal grandmother died of the same disease at 59 years old, agreed to take a BRCA genetic test, which was positive. Given her family tree, the information obtained was potentially important, in the opinion of the geneticist she consulted, for her paternal aunt, who had no cancer, and this aunt’s daughter, K’s first cousin. However, when we met K 2 years after the diagnosis, we found that there had been a complete breakdown of relations between the two sides of the family that made direct disclosure practically impossible: K’s father and sister had argued so much that all communication had been severed: ‘To start with, if it was her who was affected or her daughter, she wouldn’t warn me’, declared K. Even so, she asked the geneticist to inform her aunt:
The geneticist wanted me to get back in contact with my aunt to warn her. Now there’s just no way I’m going to get back in contact with my aunt, so I politely gave her the address and all that… and I told her, ‘But you at the clinic, you can write and tell her. There’s no way I’m going to do it. (Interview, 14/10/17)
After this interview, we continued to follow up this request for indirect disclosure made some months before the new law came into effect. We found that 2 years after the request, the information had still not been passed on owing to a delay caused by further medical procedures. As required in such cases, the geneticist wanted to make sure the deleterious genetic variant was of paternal origin before informing the aunt. Although there were clues suggesting paternal origin (no breast or ovarian cancers on the maternal side), K’s father had to be asked to take the test to avoid alarming his sister unnecessarily. However, there was no reply from K’s father, nor from K after receiving a reminder that had also been sent to her father, and this had delayed the disclosure. It was thus only after all the alternative solutions were exhausted that the geneticist in charge of the case decided to inform the aunt by letter, using the generic letter prescribed by the new French law.
The familial disclosure of genetic information is a major ethical issue.1 21 Many studies have addressed this question from the patient’s point of view,4 21–23 and some have emphasised the significant amount of practical work involved for individuals who shoulder this responsibility.3 24–26 In France, the introduction of a legal provision enabling HCPs to inform relatives with their patients consent set out to resolve this problem. The originality of this provision prompted us to investigate the role of HCPs in familial disclosure. In line with the literature that reports the scepticism on the part of HCPs towards this type of device,27 28 we show that this new way of disclosure is used sparingly. In practice, direct disclosure between relatives is generally preferred and negotiated between professionals and patients. The use of indirect disclosure thus remains limited to rare, specific complex situations.
The results show the modest impact of this incentive, now enshrined in law, which was intended to solve an ethical problem. This confirms the importance of ‘practical ethics’ implemented routinely to address the problem of familial disclosure and balance the benefits and risks3 28 and shows that this also includes HCPs and their interactions with patients. What can be said about the use of the institutional familial disclosure letter? How is this approach perceived by those sending and receiving the letter? What are the consequences? Our findings, obtained at the time that this legal provision came into force in genetics clinics across France, thus raise a series of questions that deserve further study in order to examine more thoroughly the modalities and instruments of familial disclosure.29–31 Today, we have no reason to think that the situation has changed since the time of the data collection. However, in the future, it is not known to what degree the gradual appropriation of this procedure by HCPs may help to dispel their reticence and extend the implementation of the legal provision. Similarly, the question of whether legal proceedings between relatives may happen in France remains open. To date, this has never happened. Finally, it would be interesting to extend the study to health disorders not covered by this analysis. Urgency in a life-threatening disorder, for example, may be a factor that would strongly encourage professionals to use the indirect disclosure provision. The relevance across medical genetics sectors of this option offered under French law also merits further study. Like any innovative device designed to solve an ethical issue, the French legal provision for the familial disclosure of genetic information raises new issues that will need to be closely addressed in the future.
The authors would like to thank all of the people who accepted to participate to their study. Thank you also to Catherine Davies from UBO BTU for her help in finalising the translation.
Contributors BD, sociologist, is the initial writer and coordinator of the paper. SdM, bioethicist, was the supervisor of the article. DS-L and FG, geneticists, and AdP, genetic counsellor, contributed to revise and improve the paper and to validate biomedical information.
Funding Institut National du Cancer, 52, avenue André Morizet 92513 Boulogne Billancourt Cedex.
Competing interests None declared.
Patient consent for publication Not required.
Ethics approval The protocol of the study was authorised by Paris-Descartes University’s Institutional Review Board (CERES): IRB number 20150600001072.
Provenance and peer review Not commissioned; externally peer reviewed.
↵Law No. 2011-814 of 7 July 2011 on bioethics—article 2 (2011). Public Health Code—Article L1131-1-2 (V). Journal officiel de la République française.
↵Order of 20 June 2013 establishing the generic letter addressed by the physician to members of the family potentially affected pursuant to article R. 1131-20-2 of the Public Health Code. Journal officiel de la République (JORF) No. 0143 of 22 June 2013 page 10405, text No. 7.
↵Project: ‘Familial disclosure in genetics: issues and implementation in cases of familial genetic diseases’. The sociological part underwent ethical validation by the Research Ethics Committee (CERES) at Paris Descartes University (IRB number 20150600001072).
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