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?