Discussion

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.