If a hereditary predisposition to colorectal cancer or breast cancer is diagnosed, most guidelines state that clinical geneticists should request index patients to inform their at-risk relatives about the existence of this condition in their family, thus enabling them to consider presymptomatic genetic testing. Those identified as mutation carriers can undertake strategies to reduce their risk of developing the disease or to facilitate early diagnosis. This procedure of informing relatives through the index patient has been criticised, as it results in relatively few requests for genetic testing, conceivably because a certain number of relatives remain uninformed. This pilot study explored attitudes toward informing family members and relevant practices among clinical geneticists. In general, clinical geneticists consider it to be in the interests of family members to be informed and acknowledge that this goal is not accomplished by current procedures. The reasons given for maintaining present practices despite this include clinical ‘mores’, uncertainty about the legal right of doctors to inform family members themselves, and, importantly, a lack of resources. We discuss these reasons from an ethical point of view and conclude that they are partly uninformed and inconsistent. If informing relatives is considered to be in their best interests, clinical geneticists should consider informing relatives themselves. In the common situation in which index patients do not object to informing relatives, no legal obstacles prevent geneticists from doing so. An evaluation of these findings among professionals may lead to a more active approach in clinical practice.
- Hereditary cancer
- genetic counselling
- duty to warn
- truth disclosure
- genetic screening/testing
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- Hereditary cancer
- genetic counselling
- duty to warn
- truth disclosure
- genetic screening/testing
If susceptibility to cancer is diagnosed on the basis of pedigree data and DNA testing, this is generally not just relevant for the index patient, but also for his or her at-risk relatives. In The Netherlands around 40% of genetic counselling procedures concern hereditary cancer predisposition, most frequently breast or colorectal cancer. We therefore focus on these two conditions.
In this pilot study, we discuss current practices at Dutch clinical genetics centres relating to the dissemination of genetic information. Dutch guidelines on hereditary breast and colorectal cancer uniformly state that family members of patients with these conditions should be informed in relation to the options available for early diagnosis and treatment.1–3 A ‘reasonable’ person would want to be informed about a genetic condition if there is a high probability that he or she would be seriously harmed, and such harm could be averted by receiving this information.4 Individuals may seek presymptomatic genetic testing and those identified as carriers can undertake strategies to reduce their risk of developing the disease or facilitate early diagnosis.1–3 5 6
However, it cannot be assumed in advance that all relatives indeed wish to receive this information, as they themselves have not applied for genetic counselling.5 6 There may be a significant number of individuals who do not wish to be informed (see box 1 for definitions).7
Box 1 Definitions
Wish (not) to be informed: the wish (not) to receive unsolicited information about a genetic condition in the family, thus also discovering the chance of having this condition yourself.
The right not to know: the right to individually decide whether you want to know your genetic status, that is: if you wish to undergo genetic testing and receive the results.
When the index patient is exclusively responsible for the dissemination of genetic information to family members,i the uptake of tests for cancer predisposition by these relatives is remarkably low. Generally, after a DNA test has shown a hereditary cancer predisposition in the proband, less than 50% of at-risk relatives apply for genetic testing.8–10 This could conceivably be explained because a number of family members have not been informed.8
Recent pilot studies have shown improvements in dissemination of genetic information and increased requests for testing when doctors take a more active role in the process of informing relatives. Suthers et al reported a doubling in uptake by close relatives of patients with breast and ovarian cancer, non-polyposis colorectal cancer and Cowden syndrome.9 With respect to families of patients with breast cancer, Evans et al found an increase from 53% to 74% in the requests by first-degree female relatives for DNA testing.11 Other authors did not replicate these findings, but reported positive reactions of patients to a practice in which clinical geneticists informed relatives with the consent of the index patient.12 13
One of the guidelines in The Netherlands on this issue states that in the case of treatable hereditary cancers (including breast and colorectal cancer); “if an index patient indicates that he/she is not willing to cooperate in informing family members…the clinical geneticist may decide, against the wishes of the index patient, to inform his or her relatives”.1 This guideline means that doctors could decide to inform family members of their index patient, even over the patient's objections. This particular ‘excessive’ situation, in which the index patient does not want to inform family members him or herself and does not want the doctor to do so, has been studied extensively.1 5 6 14 15 However, it is not the subject of this study; this paper considers the much more common situation in which the proband has no objection to informing at-risk relatives, yet fails to do so.
Cancer research and research on risk indicators for cancer requires a licence in The Netherlands. The aim of this provision in the Population Screening Act (WBO) is to protect private individuals from unsolicited contact by doctors. Doctors are only permitted to offer screening if the health benefits for the participants would outweigh the disadvantages. While cascade programmes, in which doctors systematically try to inform as many family members as possible, require legal consent since they are within the scope of this legislation—cascade screening for familial hypercholesterolaemia (FH) is a well known example—clinical genetic practices as discussed in this study are not covered by this law.16 17 At first glance, therefore, there appear to be no legal barriers for clinical geneticists to inform the relatives of index patients themselves.
The attitudes and practices of clinical geneticists with regard to the dissemination of information to relatives when index patients do not object to such dissemination, have merited little attention in the literature on ethics. We therefore interviewed clinical geneticists on this subject. This study focused on their personal opinions on whether it is in the interest of relatives to be informed, on whether they consider the index patient and/or the index family to be their patients,18 19 and on their perceived duty to warn relatives themselves.ii
Clinical cancer genetics in The Netherlands is concentrated in nine clinical genetics centres. For this pilot study, one clinical geneticist was interviewed from each centre (6 females, 3 males). Participants were selected on the basis of membership in the Dutch Society for Cancer Genetics, which develops guidelines for clinical cancer genetics within the professional scientific association of clinical geneticists in The Netherlands.
The semi-structured interviews lasted between one and two hours and were conducted in the doctors′ work environment. The interviewees gave their individual opinions. The subjects discussed included: (1) current clinical practices for the dissemination of genetic information; (2) personal attitudes towards the dissemination of genetic information; (3) the advantages and disadvantages of (a) current practice and (b) a practice that would involve the clinical geneticist informing relatives him/herself.
In order to reflect on the first series of interviews and to place the outcomes in an ethical, legal and social context, we also interviewed two lawyers, three ethicists, one medical sociologist and one philosopher of science. The subjects discussed were: (1) whether relatives want to be informed; (2) arguments for and against letting the index patient or the clinical geneticist inform relatives; (3) the index patient and/or doctor's possible duty to warn; (4) and the moral and legal status of such a duty.
All of the interviews were conducted by the first author (YS), recorded and transcribed. The topics (eg, ‘duty to warn’) were coded and the interviews were structured according to these codes. The individual opinions on coded topics were compared for the purpose of interview analysis by the first author (YS), and critically discussed by the project team (FM & RJ).
Geneticists state that the relatives of index patients “definitely” have an interest in being informed. According to the interviewees, the potential health benefits for family members are so apparent that they outweigh the drawbacks of invasive preventive testing and treatment options. One of the geneticists put it as follows: “Hereditary cancer is complicated. It is true: quite a few screening programmes have unproven qualities, and quite a few preventive options are extremely drastic, if not draconic. It's not like taking a pill. This makes it difficult to say that you have something to offer, that there are options for prevention or treatment. Is it still fair to inform people? That is the key question, and my answer is yes.” He adds later: “I realise that I'm looking at this from a clinical perspective.”
A need not to be informed is clearly refuted: “The medical interest definitely outweighs the interests of family members who do not wish to be informed. Not every family will recognise the several premature deaths due to cancer. It's important not to let people walk around as ticking time bombs.”
In accordance with the guidelines,1–3 clinical geneticists instruct their patients to inform family members instead of doing so themselves.iii The reasons given for this practice include: (1) the ‘mores’ of clinical genetics; (2) the right of relatives not to know; (3) the lack of a universal wish among relatives to be informed; (4) legal restrictions imposed on geneticists with regard to informing relatives themselves; (5) the responsibility of the index patient and the welfare of the family; and last but not least (6) a lack of resources.
The clinical geneticists stated that according to the “mores of clinical genetics”, informing family members themselves is simply “not done”. One doctor put this argument sharply: “The heritage of clinical genetics lies in neurodegenerative diseases and prenatal diagnostics where reproductive choices are at stake. In this context, it's just not okay to be directive, to advise people, and to call their relatives. This has to do with the right not to know and the wish not to be informed.”
The right not to know was mentioned by four clinical geneticists as an argument supporting the idea that the index patient (and not the doctor) is responsible for informing relatives. A “white coat” could put pressure on relatives to take a test. However, as one of the interviewees indicates, “that doesn't have to be the case. It is all about your tone, your attitude towards relatives.” Much would depend on how relatives are approached. “As a doctor, you can communicate information in a neutral way.” It could even be the other way around. A number of doctors mentioned “messiah” or “missionary-like behaviour” by the proband. Probands might engage in a “crusade” to convince relatives to undergo testing. As such, their right not to know would be violated by the index patient.
Six doctors said that “it may not be in the interests of every family member of the index patient to be informed”. These doctors viewed the wish not to be informed as an important reason for not informing the relatives of the index patient themselves. This practice would also trace family members who would not benefit from being informed. Others thought it would be impossible to take these exceptions into consideration. In practice, however, only one clinical geneticist actively seeks assistance from the index patient to identify relatives who do not wish to be informed. Another doctor states: “Handing over responsibility for who should be informed and who should not to the index patient is a pragmatic choice. This does not mean that it is also the best choice.” All but one of the geneticists interviewed expressed concern about index patients having inadequate knowledge of the interests of relatives.
Doctors think that “they are not legally allowed to inform relatives themselves”. One geneticist expressed this generally felt ban as follows: “As a clinical geneticist, I don't think that you have the authority to just call people up and announce that they run the risk of a genetic condition. The Population Screening Act states that doctors are not permitted to offer unsolicited medical information to people.”
Most clinical geneticists consider it to be the duty of the index patient to inform his or her relatives, as he/she would be the person who initiated the diagnostic procedures. Index patients would also feel the same sense of responsibility. Family members might share this attitude, which would be another reason to have the index patient inform them. Moreover, the majority of those interviewed considered it to be in the family's interests to be informed by someone they knew personally. The timing of the information transfer is a major factor here. The index patient would know if a family member is for example about to graduate, move, or give birth, and could then wait for a more appropriate time to inform this relative.
Finally, six geneticists stated that genetic centres would not have the time, money or personnel to contact relatives of the proband themselves. “In any case, we simply do not have enough employees to do so.” Another geneticist pointed out the practical difficulties of obtaining relatives' addresses. Only one geneticist explicitly denied that there would be resource problems.
Clinical geneticists in this study held the firm opinion that all at-risk relatives of index patients should be informed. Based on the literature, however, it could be argued that not everybody would in fact have an interest in being tested and in being informed.7–10 The nature and acceptability of preventive options may play an important role in these considerations. Some would hardly consider preventive breast amputation therapeutic; how healthy is a body without breasts? However, geneticists hold the view that the possibility of preventing a life-threatening disease carries more moral weight than the risk of violating a possible wish not to be informed.
If it is indeed in the interests of family members to be informed, it would seem fair to make every reasonable effort to ascertain that the information actually reaches the family members. This is a matter of consistency: either relatives have an interest in being informed and consequently should be informed—who informs them is less important—or they do not. In other words, the doctor and the index patient would both have a duty to warn in situations in which relatives have an interest in being informed. In this case, all five criteria proposed by Beauchamp and Childress are fulfilled according to the interviewed doctors themselves: (1) the person to be helped is at significant risk of harm; (2) assistance (informing—YS) is needed to prevent that risk from materialising; (3) there is a high probability that assistance will prevent the harm (preventive options available—YS); (4) assistance would not pose significant risks, costs or burdens to the person asked to help (see argumentation about resources below—YS); (5) the benefit for the person to be helped outweighs the costs or burdens to the person asked to help (idem).4 In short: knowledge also entails certain responsibilities.
Dutch law neither requires doctors or patients to warn family members nor prohibits them from doing so. In this case, therefore, both index patient and doctor would have a moral (instead of a legal) duty to warn. The question that remains is: whose duty is this? It could be argued that genetic information is not the property of an individual but of an entire family, since the entire family shares some of the same genes. This would imply a strong moral obligation on the part of the index patient to disseminate genetic information among his or her relatives, because it is not his or her sole property.18 19 iv As stated, however, even if this is the case, consistent and sound ethical reasoning implies that doctors should take over if the index patient fails to do so, for whatever reason.
In accordance with current guidelines, however, clinical practices are conservative and go no further than informing index patients and requesting that they to inform their relatives.1–3 The geneticists acknowledge that this approach will leave a substantial proportion of at-risk relatives uninformed. In other words, geneticists are reluctant to act on their convictions concerning the necessity of the dissemination of genetic information. The reasons given by doctors to not inform family members themselves are partly uninformed and inconsistent, as discussed below. Other reasons reveal an interesting discrepancy between Dutch clinical genetic practices and Ethical Legal Social Aspects (ELSA) literature, as well as practices abroad.
Several doctors erroneously believed that they had no legal authorisation to inform the relatives of their patients. If the index patient does not object, there are no legal obstacles that prevent doctors from directly informing the relatives of the index patient. Also, the index patient is not required to announce that the geneticist will contact the relatives. As stated in the introduction, one of the Dutch guidelines on this issue explicitly states that doctors are permitted to take over in exceptional cases in which the index patient objects to informing family members.1 But what about the much more common situation in which index patients do not object, but simply fail to disseminate genetic information? Clinical genetic practices are not subject to the Population Screening Act (WBO).16 17 But since these texts do not refer to disclosure of genetic information by doctors, and there is no explicit legislation providing permission, it is easy to see how geneticists might be confused. One of the authors of the Dutch Population Screening Act, a lawyer who was interviewed, clarified this issue by stating: “as long as they do not systematically [inform relatives—YS] and go no further than the third degree, they are not performing cascade screening”. In other words, disclosure to relatives by clinical geneticists is not considered cascade screening, legal consent is not necessary.
It is important to note here that the situation is different in other countries. Godard stated that most guidelines issued by professional organisations and governmental advisory agencies “do not preclude direct communication between a physician and his or her patients' relatives”. However, a few guidelines advise “against any direct communication between a physician and his patients' relatives”, even with the patient's consent. Such a position prevails in France, Denmark and the USA.5 Claes et al added: “In Belgium, like in several other countries, it is a rule that genetic centres are not allowed to directly approach relatives of a tested individual if they have no personal request for information or for counselling”.20
As stated, every clinical geneticist interviewed felt that it was “definitely in the interests” of the relatives of patients with hereditary breast or colorectal cancer to be informed about the existence of this condition in their family. However, they add that this might not be the case for every individual family member: there are likely to be relatives who do not wish to be informed. If this really constitutes an important reason to leave it up to the index patient to inform his or her relatives, then clinical geneticists and genetic counsellors should ask index patients whether they are aware of family members who would not want to be informed. This approach would allow the index patient to protect these relatives′ desire not to be informed.v However, the results of this study indicate that the index patient is not asked but instructed, often fairly strongly, to inform all his or her family members. In other words, the index patient may consequently violate the interests of relatives who do not wish to be informed. Therefore, the argument to let the index patient inform his or her relatives in order to respect relatives′ wish not to be informed is inconsistent.
Six clinical geneticists interviewed stated that a lack of money, time and personnel is one of the reasons for letting the index patient inform his or her family members. As realistic as this consideration may be, it is important, as de Wert wrote, “not to confuse practical and logistic problems with ethical objections”.21 Moreover, the benefit for the relatives to be informed would in every way outweigh the costs or burdens for the person who is responsible for informing them.4
The practical difficulties of obtaining relatives′ addresses are not likely to occur in common situations where index patients do not object to the idea of the clinical geneticist informing their family members.
The clinical geneticists stated that, according to the “mores of clinical genetics”, it simply is “not done” for geneticists to inform family members themselves, due to the right not to know. We refer to this as ‘the Huntington's culture’, referring to the non-treatable, non-preventable neurodegenerative Huntington's disease. It seems that clinical geneticists implicitly transmit considerations relating to the right not to know in cases of untreatable diseases to breast and colorectal cancer, which they themselves classify as ‘treatable diseases’.vi However, in the context of ‘new genetics’,22 in which individuals are informed about future health risks and about options for disease prevention, there is a growing debate in ELSA literature about the merits and limitations of a non-directive approach.23 24 Previously discussed studies suggest that clinical practices abroad are experimenting with more active approaches by geneticists.9 11–14 Although Dutch clinical practices have been rather conservative on this point to date, the fact that the researcher (YS) was welcome to discuss these topics with the geneticists interviewed points to a possible shift in the future. The same line of thought applies to the differing opinions on who would be considered the patient(s) of the clinical geneticists. Although the clinical geneticists interviewed feel that family members should be informed, they do not seem to see them as their patients. ELSA literature argues, however, that genetic counsellors may consider families, rather than patients, as their clients in this context—or should perhaps do so.18 19 Dutch clinical genetics can therefore be seen as a profession in transition.
The main conclusion of this study is that the arguments given by clinical geneticists regarding dissemination of genetic information to relatives of index patients varies, yet can be characterised as being partly uninformed and inconsistent. This is of particular interest given that all the interviewees are members of the Dutch Society for Cancer Genetics, and as such are responsible for the development of guidelines for (and the future direction of) clinical cancer genetics within the Dutch professional scientific association of clinical geneticists. Whether clinical genetics will indeed turn out to be a ‘profession in transition’ is in their hands.
However, since these results are based on 16 interviews, it cannot be concluded at this point that a more active approach of clinical geneticists is required, or even that current guidelines and protocols need to be revised. Regardless of how uninformed and inconsistent some arguments for letting the index patient inform relatives might be, valid reasons are also given, such as the timing of informing family members: the index patient is in a better position than a doctor to find an appropriate time to inform his or her relatives. Further research that includes genetic counsellors, patients and relatives will have to reveal whether a more active approach by clinical geneticists would be desirable.
The authors wish to thank all the interviewees, and Dirk Stemerding (Rathenau Instituut, The Hague, The Netherlands) for his comments on a first draft of this article.
Competing interests None.
Provenance and peer review Not commissioned; externally peer reviewed.
↵ii In follow-up studies the role of genetic counsellors and social workers also deserves attention, since they provide genetic counselling and support for patients. Of course, the position of (family members of) index patients with regard to a more active approach needs study as well.
↵iii One of them sometimes makes an exception in cases where the index patient explicitly asks her to inform family members herself.
↵iv Importantly, however, if the index patient is expected to inform his or her family members, he or she should be told about this procedure before testing. This respects patient autonomy: the ethical implications of the knowledge provided by genetic testing should be included in the informed consent procedure.
↵v Of course, it remains to be seen to what extent the index patient is able and willing to decide who does not want to know.
↵vi The comment of some doctors concerning individual family members that would perhaps wish not to be informed is interesting in this respect. Clinical geneticists may feel that breast or colorectal cancer might not be considered treatable diseases by these relatives. This, again, is related to perceptions of the nature and acceptability of the preventive options.
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