School Papers

The of biomedical ethics were first promoted by

The genetic counsellors’ Code of Ethics from different societies and countries around the world provides an overview of genetic counsellors’ obligations to clients, society and to themselves (National Society of Genetic, 2017, Human Genetics Society of Australasia, 2008, Canadian Association of Genetic Counsellors, 2006, Genetics, 2013). The obligations to clients included the respect for the primary principles of biomedical ethics, among others. These principles of biomedical ethics were first promoted by Beauchamp and Childress (Beauchamp and Childress, 1979) and are still used to analyse current bioethical decisions. These are: respect for autonomy, non-maleficence, beneficence and justice. The principle of autonomy focuses on self-governance and it’s based on the principle that autonomous actions should not be controlled by others. In order to ensure patient’s autonomy, a respectful treatment in disclosing information should be guaranteed, acting in a nondirective way to allow autonomous decision-making and provision of informed consent (Beauchamp and Childress, 1979, Bartels et al., 1997).The principle of non-maleficence refers to the duty to doing no harm, where harm is defined as an adverse effect on one’s interests (Beauchamp and Childress, 1979). Genetic counsellors often find that the potential for harm concurs with providing benefit (McCarthy Veach et al., 2003). The principle of beneficence denotes the obligation to help others further their important and legitimate interests. The respect for this principle is often challenged by the duty to respect for autonomy (Beauchamp and Childress, 1979, McCarthy Veach et al., 2003)The principle of justice underlies concerns about the equitable distribution of social benefits and burdens among people without discrimination on the basis of sex, race, age, religion, sexual orientation, or socioeconomic status, among others (Beauchamp and Childress, 1979, McCarthy Veach et al., 2003). Genetic counsellors confront several ethical dilemmas regarding clinical genetics in which the ethical principles may help as guidelines for addressing them (McLean et al., 2013). The most frequent ethical dilemmas encountered by genetic counsellors are testing at 25% risk (when someone wants to be tested for the condition of a relative, but the intermediate relative does not wish to known his/her genetic status) (Maat-Kievit et al., 1999), predictive testing of minors for adult-onset conditions (Arribas-Ayllon et al., 2009, Duncan et al., 2005) and nondisclosure of genetic status to at-risk relatives (Clarke et al., 2005, Dugan et al., 2003).The familial nature that characterises genetic information raises several ethical, legal and social issues regarding the disclosing of this genetic information to relatives. Ethical dilemmas appears when patients carrying a pathogenic mutation refuse to disclose this information to their at-risk relatives (Clarke et al., 2005). This situation challenges the genetic counsellors’ duty to protect patient’s privacy and the duty to warn at-risk relatives (Minkoff and Ecker, 2008, Offit et al., 2004, Pelias, 1991). The main reasons not to disclose genetic information to family members were the desire to avoid causing anxiety, having poor or problematic family dynamics, the fear of being blame or of relationship disruption, the self-assumption that relatives won’t be interested and privacy issues (Clarke et al., 2005).  Inherited cardiac conditions are the main cause of morbidity and mortality in the young. These conditions encompass an extensive and heterogeneous spectrum of heart diseases, including the cardiomyopathies and the channelopathies (Mendis et al., 2011, Deo and Albert, 2012).Hypertrophic cardiomyopathy (HCM) is characterized by left ventricle hypertrophy, with histological characteristics of cellular hypertrophy, myofibrillar disarray and interstitial fibrosis. HCM is the most common inherited cardiac condition, affecting 1 in 500 individuals worldwide, and a prevalent cause of sudden cardiac death in young individuals and athletes (Maron et al., 1995, Ackerman et al., 2011). HCM is characterized by a marked genotypic variability, even in the same family, and incomplete penetrance. Clinical manifestations vary from asymptomatic to severe cardiac insufficiency and sudden cardiac death. HCM is inherited as an autosomal dominant trait. Genetic analysis allows the identification of HCM-related variants in 32-63% of cases, depending on patient’s phenotype, the number of studied genes and the classification of variants criteria (Cobo-Marcos et al., 2013). Among the known causative genes, MYH7 and MYBPC3 are the two most common HCM-related genes, together accounting for nearly half of the patients with familial HCM (Millat et al., 2010, Kaski et al., 2009, Erdmann et al., 2003, Richard et al., 2003).Knowing that the first symptom of an inherited cardiac disease could be a sudden and fatal event, the disclosing of genetic information is crucial so relatives could benefit from life-saving treatments (Vavolizza et al., 2015). DiscussionThe first ethical dilemma that was faced in this case was the disclosure of genetic information to family members of a deceased individual. This situation has both arguments for and against the disclosure. Among the arguments for disclosure we find the ethical principle of beneficence as the disclosure of genetic information could promote preventive treatment of relatives (Boers et al., 2015, Bredenoord and van Delden, 2012); the health care professional’s duty to warn relatives when information involves a potential serious and harmful condition for which treatment or prevention is available (Offit et al., 2004, Shah et al., 2013); fostering the autonomy of relatives as knowing their at-risk situation may influence their health management, reproductive decision-making or life planning (Boers et al., 2015); and finally, the familial nature of genetic information encompasses a potential health impact on family members (Finkler et al., 2003). On the other hand, among the arguments against family disclosure of genetic information we can find the ethical principal of non-maleficence, as disclosure could cause psychological, social or financial harm to relatives (Galvin and Clayman, 2012); the relatives’ right not to know so we could be potentially violating their wishes to not know (Andorno, 2004); the respect for the deceased’s privacy and confidentiality as well as the wishes expressed in life (Boers et al., 2015) and finally, the fact that sometimes genetic information is not feasible and does not have clinical validity (Biesecker et al., 2012). Balancing all positive and negative aspects of disclosing the genetic testing results from my deceased patient, I considered that the justifications for disclosure outweighed the ones against disclosing. First of all, Harry’s daughters were the ones who came to the unit asking for the results of the test that was done in her father and wanting to get the information. Thus, the possibility of them not wanting to know about their father’s condition was removed. Moreover, considering that the HCM is a condition that could present with sudden cardiac death, for which there is preventive management available and taking into account that even if there was no familial segregation yet, the identified genetic variant was a potentially pathogenic variant, I felt that I have the moral duty to inform them. There are potential psychological harms associated with the disclosure of genetic information; however, the whole disclosure process took place in a genetic counselling environment in which these potential harms were evaluated and dealt.The next ethical dilemma that I encountered with the genetic counselling of this family was when I expressed them the strong need to inform his father’s brothers about the clinical and genetic diagnosis on the family, as they absolutely refused to inform their uncles. My first approach was to try to clarify their reasons for not wanting to disclose the information to the other family members, to which they responded that the relationship was disrupted after Harry’s death because their uncles did not support them and they did not even appear at the funeral. Since then, they have not exchanged any word or relationship. There are different ways of informing relatives, such as leaving the responsibility to inform their relatives to the patient, providing family letters to patients so they can pass them to their relatives or by directly contacting family members (Aktan-Collan et al., 2007, van Langen et al., 2004). In the institution where I work, the strategy is to give a family letter to probands and ask them to distribute these letters among their first degree relatives. By doing it this way, I consider that we promoting their autonomy to disclose but without leaving them alone within the disclosing process, as it’s been described that some patients may show difficulties and may require some guidance to complete the disclosure (Mendes et al., 2016). I presented this option to Harry’s daughters but they did not consider it a feasible approach as they did not want to arrange any meeting with their uncles. As they were only talking about their resentment towards Harry’s brothers, I thought that maybe there could be an opportunity to contact with the wives or descendants of their uncles so they could spread the information. Their position on the topic keep being a categorical negation and as I did not want to be directive or coerce them into disclosing the genetic information, I considered to stop the conversation there and, as we will have another appointment in about a month, we could address again the family communication issue.In the next genetic counselling session, after explaining their genetic testing results, talking about clinical surveillance options and follow-ups and assessing all their questions and worries, I asked them if they have thought again about communicating the genetic diagnosis with their relatives. They answered that they stay in their position of not wanting to personally disclose their own or their father’s genetic condition to other relatives but that they are willing to authorise me to contact them. Therefore, I suggested them that I would write a letter in which neither their names nor their father’s name will be included but indicating that a genetic condition had been identified in the family and that if they want to have this information disclosed, an appointment to our unit could be arranged.  Globally, genetic counselling central principle is to promote a non-directive method of communication, trying to not influence patients’ decisions (Elwyn et al., 2000, Bartels et al., 1997). However, despite communication of relevant genetic information to relatives is highly encourage sometimes the steps taken to persuade or encourage a patient to disclose information would clearly lie in a directive counselling (Clarke et al., 2005). During the genetic counselling of this family, I feel kind of powerless because even if I considered Harry’s daughters to be fully aware about the importance of the familial disease and about how beneficial it is to know about it so clinical surveillance can be arranged, and even if I proposed different approaches, they kept not willing to disclose the genetic information. Concurrently, I also empathized with the situation they have lived after their father’s death and I understood their resentment and denial to a face-to-face disclosing so I did not want them to feel persuaded to act against their will. Many guidelines have address disclosure of a genetic disease to a patient’s family members however, their recommendations vary and are exposed to subjective interpretations. Some of these guidelines do not prohibit direct communication between the health care provider and patient’s relatives but limit such communication and disclosure of genetic information to relatives only with the patient’s consent (Godard et al., 2006). 


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