The extent of the individual’s right to privacy, and the extent to which the physician has an obligation to protect the third parties involved, constitute the ethical dilemma at the heart of the case-study. -One quarter- of the physicians surveyed and -one eighth- of the patients believed that Mahmut had a right to expect this information to be kept confidential. The majority of those who supported this view were male patients. The responses of participants to questions about the issue of protecting the unity of the family overlapped with the responses about the respect for the privacy.
Effect of gender on disclosure of third parties
Gender has a clear effect on attitudes towards concealing this information, both in our study and in a similar research study carried out in France. In both studies, a substantial proportion of the men surveyed were sympathetic to the idea that test results should not be disclosed if the subject of the tests so wished [16]. Although it could be argued that this sympathy on the part of males is likely to be affected by the patient’s gender, this result is also consistent with other research findings which show that women are more likely to take responsibility for warning others who might also be at risk [17, 18]. When considered from the perspective of feminist ethics, this finding seems to support the idea that it is characteristic of women to protect everyone's benefit, take care of other people's needs and sympathize with others [19]. For example, it has been reported in a Canadian study that, among the individuals who have BRCA1/2 mutation, women are more willing to share the information about risk by contacting others, even distant relatives [20].
Medical confidentiality versus protecting others
The obligation of protecting patient confidentiality, which is also a requirement of respecting patient autonomy and privacy, is an integral part of the duty of medical confidentiality – which itself is one of the earliest obligations of medicine. The main exception to this duty arises when third parties might be exposed to an unacceptable degree of damage, especially within the context of HIV/AIDS or psychiatry [4]. In Turkey there are no legal standards about a duty to warn in such situations. Although there is a bill of law about HIV/AIDS in which partner notification in limited situations is mentioned, it is not yet legalized [21]. There are also public health reporting requirements for some contagious diseases; however, these notifications are only required for establishing health policies and do not include partner notification [22]. On the other hand, both physicians and those who have had genetic tests seem to find the idea of sharing the test results with a spouse more appealing than the idea of sharing them with another individual, such as a sibling, who runs the risk of experiencing physical or social damage on the basis of these genetic test findings. This situation, which cannot be evaluated within the scope of the available exemptions of the medical confidentiality, is noteworthy. Although the carriers of balanced chromosome will not have a risk of experiencing a serious medical problem themselves, it is possible that their children will. A definite decision needs to be made, therefore, about whether this risk is sufficient to allow violation to the principle of medical confidentiality [16, 23], because concealment of a secret such as that involving Mahmut may cause harm and considerable distress to any third parties who may be affected.
There is a conflict here between the obligations of the physician in terms of medical confidentiality and the ethical obligation to prevent other people from incurring damage or minimizing the damage. There is also a conflict between the principles of nonmaleficience and justice [3]. Although Mahmut’s request for his test result not to be disclosed to his wife was not met with approval from the participants in our study, there is only one article in the Regulation on the Centres for Diagnosis of Genetic Diseases (the only regulation produced on ethical issues related genetics within Turkey) covering this topic. The article states that "…genetic test results cannot be revealed to third parties without the consent of the person [9]”. This ethical approach is supported by the Regulation of Patients’ Rights[24] and the Turkish Medical Association’s (TTB) Code of Medical Ethics[25] within the scope of the obligation to respect patient privacy and confidentiality. The only exemption stated in the TTB’s Code of Medical Ethics is when the life itself is endangered: "The obligation of confidentiality of the physician becomes invalid in circumstances where keeping confidentiality would put the life of the patient or other people in jeopardy (article 9)". The exemptions in which the breach of the confidentiality can be approved ethically are grounded in the possibility and degree of damage in these ethical codes.
While the current regulations include this proviso, an ethical concern arises from the fact that physicians (in common with the patients) prefer to disclose the genetic information to the patient’s wife rather than to his siblings. Older, more experienced physicians – who presumably have more knowledge about the implications of genetic testing – share this concern. The duty of the physician regarding the prevention of damage to third parties is likely to make them more aware about people who are at serious risk of damage. Therefore, the benefit and harm of revealing or hiding the information should be evaluated in each case with respect to the principle of proportionality [23, 26]. When the ratio of benefit and harm resulting from sharing the information with the spouse is evaluated objectively, the fact that the mother who gives birth to a baby with Down syndrome is already at higher risk than other mothers in her next pregnancies [27], makes it difficult to justify violating Mahmut’s confidentiality when considering the ‘clear and present danger’ rule. Nevertheless, the physician is expected to encourage Mahmut to discuss his results with his wife Nurgül so that she can make informed decisions about future pregnancies and have choices about whether to give birth to a baby with Down syndrome. This will also increase honesty within the marriage. In addition, the physician should encourage Nurgül to speak about her own health condition, and her plans about having children, with her husband [5].
The patients interviewed felt less responsible for warning siblings who might be at risk of being damaged by these results than they did about warning the spouses. However, physicians who were in their fifties and who were more experienced were more likely to give serious consideration to the potential harm to other people. The belief that the test results belong to the family as a whole appears to be behind the willingness to disclose information to siblings rather than to the spouse. Our opinion is that the number of participants in our study who felt that the primary responsibility for informing siblings lay with Mahmut rather than with the physician supports this theory (Table 3). Although some of the patients appear to hold the view that it should be Mahmut who should inform his siblings about the result of the genetic testing, rather than the physician, because it would be difficult for physicians to communicate with the patient’s relatives in their intense work environment, the physicians who believe that genetic information belongs to the family as a whole are even more likely to support this course of action (Table 3).
Research studies carried out with groups of balanced chromosome carriers in the USA [28] and England [29] found that brothers, sisters and other relatives were likely to be given information, in contrast to the studies carried out in Germany [30] and France [16]. In these latter countries, as in our case, the patients being tested refused to inform their relatives. The reasons they gave for their decision were that they want to take decisions about their family planning with reference to the present situation rather than to the future [16]; psychological reactions like guilt and shame; the fear of being stigmatized in the family on account of being a carrier; feeling inadequate to the task of informing relatives, or denial of the results and their implications and subsequent depression [30]. All of the participants in a Canadian study on patients with breast cancer felt not only that they had a responsibility to share the information but also that their relatives have the right to know [20].
It is important to determine the degree of harm that can be caused by the failure to share information, and seek reliable and valid evidence about whether the sharing of information can help prevent harm before making a decision about genetic information which could violate the principle of medical confidentiality [23, 26, 31]. Although the degree of potential risk of harm may change with time, as the field of medical genetics advances, the findings currently available indicate that the likelihood of adults appearing phenotypically normal but carrying balanced chromosome anomaly is 1/500 in the general population, and 80% of these cases are hereditary [29, 32]. Consequently, it is possible to discuss certain risks, such as having a baby with an unbalanced chromosome anomaly (10%-15%) [30, 32], spontaneous miscarriage (25%-50%), infertility, or recurrent miscarriage in relatives. However, these risks can be prevented with prenatal or preimplantation cytogenetic diagnostic tests [30, 33, 34]. As a result it is argued that, when genetic risk and diagnosis is taken into consideration, sharing the information that a person is a carrier of balanced chromosome anomaly, even with distant relatives, can be justified [30]. On the other hand, researches in France and the USA suggest that some relatives who are informed by the testees do not feel any need to find out more information [16, 30]. The suggestion that testees cannot inform their relatives effectively [35], or that the information can be misinterpreted [16], makes it all the more important that physicians provide relevant knowledge to third parties in the interest of preventing harm.
The widely accepted idea that the individual has a moral obligation to inform his/her relatives [11, 17, 20, 23, 36] was evidently also held by the patients in our research. This result can be discussed within the framework of the individual's responsibility to his/her relatives. For example, as mentioned by Raz and Schicktanz [37], according to Kenen (1994) and Hallowel (1999) the increase in access to genetic information also increases the onus on the individual concerned to share his/her genetic information with any relatives who might also be affected, and Konrad (2003) defines the conflict between the imperative to disclose and the desire to hide the information as a moral conflict. Most of the German subjects affected by a genetic disorder believe they have a duty to warn their relatives, especially when preventive actions can be taken [37]. Informing the people at risk is also considered less important in our research and in a study conducted in Australia [11].
On the other hand, those who believe that genetic information belongs to the family as a whole tend to support the disclosure of such information, coinciding with the communitarian ethical approach which pursues the benefit of all family members who might be affected by the problems identified [38, 39]. In addition to this, the virtues expected from Mahmut – such as honesty in his sharing of information with his wife, and altruism in sharing the truth with his siblings – may provide guidelines for ethical behaviour [40].
Confidentiality and insurance coverage of genetic testing
The responsibilities of the state, in terms of enabling access to genetic tests and minimizing the damage people might experience if they lack access to such tests should be discussed with reference to social justice. The state's obligation relating to equal allocation of medical resources among the people who have similar needs is based on social justice. The responsibility of the state to enable the access to genetic tests not only for those who can pay but also for those who need them but who cannot pay [41], is based on an understanding that it is important to prevent damage, as far as possible, in those who are most likely to suffer from this damage [42].
The physicians and the patients in our study believed that, in situations where the reproductive choices for healthy generations might be affected, the state has an obligation to provide the relevant genetic tests free of charge. The regulations in Turkey appear to be compatible with these expectations. Although genetic tests (prenatal, cytogenetic and molecular genetic) are covered by health insurance based on medical need, these regulations also allow people who do not have health insurance to benefit from these expensive tests [43]. However, physicians and patients in our study believe that the cost of the tests should be met by the state even if there is no medical indication, as in our case. In fact, the state policy with regard to genetic tests/advanced diagnostic tests is determined by a cost and benefit analysis of genetic screening programs. The cost-benefit analysis for these programs is measured by their effectiveness in decreasing the incident and mortality/morbidity of the relevant genetic disease [44]. For example, the newborn screening program in Turkey does not include a test for hemoglobinopathy because such a program would have a cost-benefit advantage only if the national incidence of this condition was high. In Turkey, it is low, and so premarital blood tests are considered sufficient [45].
The regulations relating to the coverage of DNA tests, other than the judicial and medical indications, by health insurance [46], provide a legal framework in which the medical profession and the state can work together for the common good. The evidence-based medical indication, which should be pursued by the physician in the decision-making process, is relied upon within the context of the genetic tests, and as long as there is medical indication, the test fees are covered by health insurance [46]. cAs a result, this regulation supports the additional duty of the medical profession, which includes the fair allocation of medical resources and prevention of their unnecessary use in terms of the principle of justice, along with the duty to provide medical treatment [47]. As observed in this case study, when there is doubt about the material benefit of the test, it seems difficult to justify the test and deem it a fair allocation of medical resources.
