“WE’VE OPENED PANDORA’S BOX, HAVEN’T WE?” CLINICAL GENETICISTS’ VIEWS ON ETHICAL ASPECTS OF GENOMIC TESTING IN NEONATAL INTENSIVE CARE
Arsov T.1,2
*Corresponding Author: Todor Arsov, MD, PhD, Faculty of Medical Sciences, University Goce Delchev in Shtip, North Macedonia, E-mail: todor.arsov@ugd.edu.mk
page: 8

DISCUSSION

This qualitative study is the first to specifically examine the views of clinical geneticists experienced with genomic testing in the NICU regarding the ethical issues generated by such testing. Participants considered genomic testing in an outcomes-focused fashion, weighing up potential benefits and harms. The main reason given in support of genomic testing was to establish a diagnosis and to inform future management. However, concerns over the child’s future autonomy and the future sustainability of this kind of testing were also expressed. Some participants also pointed to the benefits from genomic testing being seen in the context of the family as a whole, including parental health and future reproductive choice. In contrast to some other studies, [e.g. 27] participants thought that gaining parental consent for genomic testing in the NICU is usually necessary, although some appeared to express a desire to be able to get on with exercising their professional judgement – including around what variants to return. At the same time, they also generally supported the notion that parents should have a say in what kind of additional (incidental or secondary) results are returned following testing. It is worth noting that Australian practice is, in general, in line with more conservative approaches to returning secondary findings. If a result is genuinely incidental (unexpected), it tends to be reported. But the process of deliberately searching for secondary findings at the same time as seeking a diagnosis remains rare. As such, participants were more measured in their enthusiasm for the return of such findings than some other studies of paediatric genomic testing have shown.[26] Participants also raised concerns regarding the potential for ‘information overload’ in the consent process and problems from reasoning around complex and potentially ambiguous information. Participants emphasised the need for ongoing conversations with parents, consistent with the idea of moving away from the traditional emphases on information and choice provision as sole facilitators of autonomy. [33] This also suggests a more relational approach to autonomy, one which incorporates the social context of decision making, based on honesty, openness, and trustworthiness. [34] When faced with challenging ethical dilemmas, particularly around the uncertain nature of genomic results, or the potential for genomic testing in the NICU to abruptly change the course of treatment, clinical geneticists appear to be at risk of moral distress. Similarly, Szego et al [26] identified a paradox when a sought-after new technology has unintended consequences. Unlike participants in a 2019 focus group study by Knapp et al [27], our participants did not mention that this kind of testing raises the prospect of eugenics. This apparent distress also draws on the fast-paced rollout of genomic testing in the NICU. We observe this against a wider background rapid mainstreaming of genomic medicine. Participants’ approaches to preventing or resolving complex clinical and ethical situations when testing in the NICU was nuanced. They focused on building partnerships with parents, engaging with the expertise of multidisciplinary teams and taking a ‘case by case’ approach with attention to local context. Aware of the ongoing challenges and changes in the practice of clinical genetics brought by the introduction of genomic technologies in medicine, participants would welcome external advice, such as professional guidelines or access to clinical ethics support. Australian clinical geneticists were unequivocal about the critical role genetic counseling has in both preventing and mitigating most of the ethical issues arising in the genomic testing of children, including in the NICU. This is achieved through the provision of necessary/required information and emotional support and also, by building ongoing trusting relationships with the parents and families. In line with other studies, [28] participants emphasised the pressing need to strengthen the existing genetics professional workforce to facilitate the mainstreaming of genomics. This exploratory study is subject to some limitations. Participants were purposively invited and self- selected, and they mostly practiced in New South Wales. In addition, qualitative data is not intended to be representative of the views of clinical geneticists everywhere. While all participants had experience with genomic testing, not all had extensive hands-on experience with testing in an NICU setting. Interestingly, our study did not identify the ethical issue of unequal access to genomic testing due to financial and geographic constraints in Australia, perhaps explained by the publicly funded Australian healthcare system (with the assumption that NICU genomic testing is listed on the medical benefit scheme) and by the centralised way laboratory work is performed, allowing access to testing from any NICU unit in Australia (at the time of the study offered mostly on research basis). Australian clinical geneticists supported the use of genomic testing in the NICU, balancing the potential benefits and harms and the interests of the child, the parents, and the clinical team. They emphasised the paramount role that careful genetic counseling plays in building a partnership with the parents and the growing need for building up the genetic workforce to adequately support the implementation of genomics into mainstream medicine in Australia.



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