“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
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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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