31 January 2017

Genetic Privacy and Counselling

'Am I My Family’s Keeper? Disclosure Dilemmas in Next-Generation Sequencing' by Roel H.P. Wouters,Rhod´e M. Bijlsma, Margreet G.E.M. Ausems, Johannes J.M. van Delden, Emile E. Voest, and Annelien L. Bredenoord in (2016) Human Mutation comments
Ever since genetic testing is possible for specific mutations, ethical debate has sparked on the question of whether professionals have a duty to warn not only patients but also their relatives that might be at risk for hereditary diseases.As next-generation sequencing (NGS) swiftly finds its way into clinical practice, the questionwho is responsible for conveying unsolicited findings to family members becomes increasingly urgent. Traditionally, there is a strong emphasis on the duties of the professional in this debate. But what is the role of the patient and her family? In this article, we discuss the question of whose duty it is to convey relevant genetic risk information concerning hereditary diseases that can be cured or prevented to the relatives of patients undergoing NGS. We argue in favor of a shared responsibility for professionals and patients and present a strategy that reconciles these roles: a moral accountability nudge. Incorporated into informed consent and counseling services such as letters and online tools, this nudge aims to create awareness on specific patient responsibilities. Commitment of all parties is needed to ensure adequate dissemination of results in the NGS era. 
The authors argue
Single gene testing is available for a few decades now. Since that time, healthcare professionals have been confronted with dilemmas that arise from the fact that genetic findings have implications not just for individual patients but also for their family members [Chadwick, 1997; Parker, 2001]. This debate has become increasingly urgent in the advent of next-generation sequencing (NGS) technologies such as whole-exome sequencing and whole-genome sequencing. NGS techniques are particularly promising in the context of personalized medicine [Dietel et al., 2015]. In the near future, healthcare professionals will facemore dilemmas regarding the disclosure of genetic test results to family members because more peoplewill undergo genetic testing.An example of this development lies within the context of personalized cancer care, where germ line sequencing is an essential component in accurate assessment of actionable mutations in neoplasms. Although the chance of finding an unsolicited but actionable germ line mutation remains relatively lowon an individual level [Bijlsma et al., 2016], the absolute number of unsolicited findings is expected to be considerable [Chan et al., 2012; van El et al., 2013]. Consequently, the ethical dilemma of whether or not to communicate genetic results to family members directly will occur more frequently as NGS finds its way into clinical practice.
Current ethical literature focuses primarily on the scenario that a patient explicitly refuses to share potentially life-saving genetic informationwith relatives [Falk et al., 2003; Offit et al., 2004; Bombard et al., 2012; Shah et al., 2013]. Indeed, a majority of genetic professionals have encountered this dilemma at least once in their careers [McLean et al., 2013]. Empirical research, however, suggests that the refusing patient scenario occurs in less than 1%of the consultations in the genetics clinic [Clarke et al., 2005]. Generally, patients are willing to share relevant results with their family members. Moreover, the possibility to inform relatives about hereditary diseases is an important motivation for patients to undergo whole-exome sequencing. Until now, this has primarily taken place in a research setting rather than within a clinical diagnostics setting [Clarke et al., 2005; Facio et al., 2013; Hitch et al., 2014]. This article, therefore, concentrates on a much more common situation: a patient is not opposed to sharing genetic information but nevertheless fails to informher relatives. Particularly urgent in this situation is information on hereditary diseases that can be cured or prevented. Although probands know that it is important to inform family members and are generally willing to do so, data suggest that this vital transfer of information often fails to occur [Claes et al., 2003; Sharaf et al., 2013; de Geus et al., 2015]. Uptake of genetic testing tends to be quite low, approximately half of the relatives undergoes genetic testing after a potentially life-threatening mutation (e.g., HNPCC) has been found [Gaff et al., 2007]. This suggests that index patients often do not adequately inform at-risk people in their families. Reasons for not sharing results include not feeling close to family members, not finding the right time and words, and anticipation of negative reactions [Seymour et al., 2010; Wiseman et al., 2010]. Traditionally, there is a strong emphasis on the duties of the professional in this debate [Godard et al., 2006; Dheensa et al., 2016].
But what is the role of the patient and her family? Family ethics is a domain in the field of bioethics that has not been given much attention, and only a few authors have dealt with the subject of responsibilities that arisewithin a family [Lindemann, 2014]. Whereas the current literature about family ethics views the family as a community rooted in shared values rather than shared genes [Verkerk et al., 2015], NGS draws the attention toward responsibilities that emerge within a genetic family. In this article, we examine the question of who is responsible for conveying actionable information to relatives of patients undergoing NGS.
The authors cite Bonython and Arnold, 'Disclosure ‘downunder’: misadventures in Australian genetic privacy law' (2014) 40 Journal of Medical Ethics 168–172.