“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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RESULTS
In total, 32 Australian clinical geneticists were invited
to participate. Of these, 25 expressed interest (and were
provided with further information), and 12 gave consent
to participate. Data saturation was reached after 11 interviews.
Of the 11 participants, 7 were female, 9 were over
the age of 50 years, 9 from New South Wales and 10 had
more than 15 years’ experience practicing mostly in paediatric
and/or adult genetics, with experience in genomic
testing. None of the participants’ clinical practice was
dedicated to genomic testing in the NICU.
Analysis of data led to four themes being identified:
1) Consent: the craft is in the conversation; 2) Whose
autonomy and who decides? 3) The winds of change and
ethical disruption; and 4) Finding solutions.
Consent. The craft is in the conversation
Participants acknowledged that achieving a meaningful
consent process in the NICU may be challenging, given
the complexity of genomic testing and the time pressures
under which parents or caregivers need to make care decisions
for a critically ill infant. These health professionals
drew on their experiences to reflect on the strengths and
limitations of the consent processes they were familiar
with. While most participants agreed that obtaining consent
for genomic testing is complex, some were more skeptical
of achieving ‘true’ consent:
“…given how early all this is, how difficult it
is to really counsel informed consent to parents…”
(Participant 7)
“…do people understand what they are consenting
for? No, they don’t!” (Participant 6)
The consent process was often framed as being dictated
by pro-forma materials provided by the relevant healthcare
organisation, reflecting a tension between consent as
a process or conversation and consent as a signature on a
form. Some participants were concerned that every aspect
of the discussion had to be documented:
“If you try to incorporate all those possibilities
[such as the possible findings and limits of the test]
into your consent process, you end up with multiple
pages of documentation, that no one reads or understands
or wants to talk about.” (Participant 4)
All participants spoke about the challenges arising
from identifying incidental or secondary findings (when
these are not masked) and the importance of this possibility
being discussed with parents. While they felt the decision
about whether to receive such findings should remain with
parents, this may be difficult to rationalise in advance:
“…it is up to the family to decide how they deal
with this… It is a lot about consent.” (Participant 1)
“I think what informed consent about a secondary
finding means is that you depend on them
[parents] having imagination [...as to what it will be
like...] and I find that’s very challenging for people
and parents [...], until it happens, the impact on them
is not really felt…” (Participant 5)
Others appeared to express scepticism about a seemingly
exceptional approach to genomic consent:
“Just because something is genetic or genomic,
we need to wrap it in multiple layers of complex
consent and bureaucracy…” (Participant 4)
Nevertheless, most participants agreed that, at this
point in time, consent to genomic testing in children remains
necessary:
“...the only time you don’t need a consent is
when it’s a lifesaving thing in the NICU and you can’t
get parental consent ... There’s no genetic test that is a
lifesaving test so there’d never be a case when you’d
do it without consent.” (Participant 9)
“I think the answer at the present time is no [to
testing children without consent]. I think that – yeah,
that’s a really, really difficult question. [...] Yeah, we
really opened the Pandora’s Box...” (Participant 5)
All participants were of the view that parents should
have the right to decide what kind of results from genomic
testing are returned, although views diverged if a condition
was identified where an intervention was available in
childhood. Participants also agreed that it is important to
have an open conversation about the test, and that genetic
counseling is valuable. Conversations with parents should
acknowledge the limitations of the test:
“I think it’s important when we are counseling
patients and families, when we do this sort of testing,
that it’s not perfect and it’s not always going
to find the answer… people see this on television
and they come and they talk about a test that can
do everything… an answer test for everything…”
(Participant 8)
“…sitting there with people and watching them
or listening as they work through the pros and cons
and giving them time is really very valuable.” (Participant
5)
Whose autonomy and who decides?
Participants spoke about the justification for genomic
testing in unwell infants, describing that this necessitates
balancing the benefits and harms and the (sometimes conflicting)
interests of the various stakeholders involved.
Most agreed that diagnostic genomic testing is justified
when the clinical utility and potential benefits outweigh
the potential risks:
“… in these kinds of cases they are diagnostic
tests, they are not predictive tests… [If] there is reasonable
chance that we will find something … [that]
would actually help either the managing doctors with
treatment or prevent the child from having unnecessary
investigations, … then I would be comfortable
ordering a test.” (Participant 8)
Most participants acknowledged the limitations of
genomic testing and the potential for harm. One participant
spoke of a case where a devastating condition was identified
from a genomic test performed early in life:
“I think we have seen harm done… [T]he consequences
are more severe than we realised, and it’s
all been done in a bit of a rush and a hurry and the
time when you really don’t know very much about
this baby...” (Participant 7)
Others raised concerns with the prevailing rhetoric
of choice and autonomy in clinical medicine:
“So, potentially we are causing harm by offering
too much choice… [P]eople often think that, you
know, choice equates to autonomy, and that is a good
thing, but I do think this is a very complex area, and
we can’t assume that choice actually makes life better
for the family.” (Participant 4)
“I think in our society we over-emphasise that
[autonomy] in some contexts. And autonomy is to
be valued very, very highly except when it isn’t the
most important thing…” (Participant 6)
Most participants extended the benefits from genomic
testing to the parents and the family, and some participants
balanced the child’s purported right to future autonomy in
the context of the potential benefits for the wider family:
“… you have to think carefully about the family
as a whole, rather than the child as an isolated autonomous
being. I think you need to talk about the family
genetics being a family matter that can be thought
of as a different kind of autonomy.” (Participant 6)
The ‘winds of change’ and ethical disruption
Participants spoke about how genomic testing is
changing clinical practice, both for them and how they
engage with other health professionals. Knowledge and
norms of the use of genomic testing are still (rapidly) emerging. At present, professionals are keen to expend
a scarce resource wisely while generating evidence for
future implementation:
“So… for certain indications, it is very good,
for others, there is very poor availability of testing.
So, you know, definitely much better than 5 years
ago when we weren’t doing any, but still a long way
to go… We are not really concerned about increased
availability; we are concerned about sustainable models
of funding and implementation.” (Participant 4)
“…we think very hard – we struggle about the
decision about whether to do whole exome or whole
genomes for a baby in the NICU for example … And
this is evolving. It is even different from what we
might do six months ago. We are changing.” (Participant
6)
While all participants spoke about the important role
genetics professionals have in managing the mainstreaming
of genomic medicine, they expressed concerns about
the lack of an adequately sized workforce:
“…genomics is running ahead of workforce…
We’re doing better, but there is an ethical issue here:
is having this type of information but not being able
to deliver and support people in interpreting it and
providing them with psychosocial, emotional support
[acceptable]? …it is immoral that we do this unless
we have a trained workforce…” (Participant 1)
Concerns were also raised about non-genetics specialists
ordering testing:
“… there are endocrinologists I know and other
people who think it’s very clever to order these genomic
tests, that they have no idea what they’re doing
or how to interpret them, all the ethical issues behind
it.” (Participant 5)
“I don’t think that non-genetics professionals
actually understand the full implications of testing….
They don’t understand variants… the potential for
incidental findings… So, it does worry me…” (Participant
3)
Others, however, took a more pragmatic approach:
“I don’t think geneticists have a monopoly necessarily
on that, the principle really should be that
people should only be ordering the test if they know
what they are doing.” (Participant 4)
Participants showed an affinity for what can been
termed ‘ethical disruption’, caused by the introduction of
a new technology. Responses to the case vignettes in particular
suggests participants were concerned about ‘moral
distress’, which occurs when a moral event (such as a
moral tension, conflict, dilemma, uncertainty or constraint)
brings concomitant psychological distress (such as frustration,
feeling torn, regret and so on).[32]
“… all of these [cases] are hard, I find them very
difficult. If you ask me tomorrow, I’m not sure I’d
give the same answers. I mean hopefully I would, but
they’re all fairly difficult…” (Participant 9)
“…what really concerns me in all this… I still
don’t think we have the knowledge and wisdom that
we think we have...” (Participant 5)
Participants were probed on their views on genetic
exceptionalism, given that the advent of genomic testing
has reinvigorated this debate. Some supported an exceptionalist
framing:
“I don’t think it’s just like any other test at all.
Most of those [other] tests are looking for specific
things and don’t have such a chance of finding something
unexpected. At the moment genomic testing is
fairly new and even the people who have been doing
it for some time still get surprised by the things that
get reported...” (Participant 8)
Others rejected this approach:
“It is not any different from any other information
you might get… You may do a renal ultrasound
and find that the baby’s got no kidneys, which will
have just the same impact. There is nothing special
about genomic testing in that regard.” (Participant 1)
Finding solutions
When engaging with the technical, clinical and ethical
complexity that comes from genomic testing in the
NICU, participants spoke about the importance of working
with an interdisciplinary team and partnering with
parents/caregivers.
“I guess what we try to do in our unit is discuss
it as a team and come up with a consensus to offer to
parents.” (Participant 7)
“… that is a complex discussion with the family
and the medical team, and genetics has a role in
that […] [in] some cases you can’t let the parents
dictate the management, when you are dealing with
something that will impact other cases that actually
have a potential for a better outcome.” (Participant 2)
When asked how they would resolve the ethical dilemmas
in the case vignettes, most participants took a
contextual approach, highlighting the need to consider
individual circumstances:
“We do it on a case by case basis. If we had
concerns with that case, we wouldn’t do it. So, we
judge each case as it comes.” (Participant 9) In turn, some clinical geneticists acknowledged the
need for developing guidelines to help harmonise practice:
“…you’d have a range of opinions… and these
are sort of questions for which there needs to be some
kind of a consensus… uniformity across, I think nationally,
with acceptable standards…” (Participant 2)
A few participants said they would seek help from a
hospital clinical ethics committee or the legal system to
resolve complex disagreements with parents, especially if
there was uncertainty as to best practice.
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