“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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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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