“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

INTRODUCTION

Technical advances and cost reductions in genomic testing have facilitated increased access in research and clinical practice settings. [1, 2] Such testing can lead to an overall diagnostic yield of around 40% of cases and may also impact clinical management. [3-5] However, the diagnostic yield from genomic testing in neonatal intensive care units (NICU) appears to be higher (up to 70%), with management implications in up to 50-80% of diagnosed cases. [6-9] Nevertheless, genomic testing is not yet internationally recommended as a first-line test in NICU.[10] Given the clinical need for prompt decisions, timeto- result is of special importance in the NICU. Studies have reported on the feasibility and performance of a “rapid turnaround” genomic testing model, [11] leading to decreases in both infant morbidity and cost of hospitalization. [12, 13] Emerging evidence regarding the cost-effectiveness of genomic testing in the NICU suggests that the use of such testing in this setting will continue to increase. [13-15] Genomic testing can generate complex information, often subject to conflicting interpretations. [16, 17] Its use in children is subject to specific psycho-social and ethical considerations. [18, 19-21] When it is employed in the NICU setting, specific ethical issues also arise. [22- 25] While issues arising in the NICU have parallels with those that can arise in other forms of paediatric genomic testing, this specialised setting also offers some more distinctive concerns, such as: ensuring appropriate consent at what can be an emotionally charged time, implications for bonding and treatment limitation (including considerations of disability), distributive justice in allocating scarce health resources to the test, whether to undertake targeted or broad testing (the latter of which may lead to increased identification of incidental findings or variants of uncertain significance), and whether directive counselling is appropriate in this context. Underpinning all of these is the issue of genetic exceptionalism, namely whether a genomic test performed in the setting of NICU is just like any other diagnostic test, or whether it retains some of the properties that have typically led to additional safeguards and oversight for other clinical genetic tests. Studies have described health professionals’ views on genomic testing in paediatrics more generally, [26] and there is nascent literature examining the general views of health professionals on the use of genomic testing in the NICU. [27, 28] Little is yet known, however, about the views of the health professionals implementing the testing and the ethical issues arising from its application. This qualitative study aimed to explore the views of Australian clinical geneticists on the ethical issues surrounding genomic testing in the NICU setting. Results will inform the debate on the appropriate use of genomics in the care of the critically ill infants.



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