The more you do it, the easier it gets: using behaviour change theory to support health care professionals offering reproductive genetic carrier screening

Abstract

Recent advances in genomic sequencing have improved the accessibility of reproductive genetic carrier screening (RGCS). As awareness and interest grows, non-genetic health care professionals are increasingly offering RGCS to consumers. We conducted a qualitative interview study informed by behaviour change theory to identify influences on health care professionals considered as ‘early adopters’ offering RGCS through Mackenzie’s Mission, an Australian national research study investigating the implementation of free RGCS to couple’s preconception or in early pregnancy. Interviews were deductively analysed using the Theoretical Domains Framework to examine barriers and enabling factors. In total, we interviewed 31 health care professionals, who were primarily general practitioners ( n = 23) offering RGCS through Mackenzie’s Mission. Upon analysis, 15 barriers and 44 enablers to implementation were identified and categorised across three health care professional target behaviours 1. Engaging with RGCS, 2. Identifying eligible patients, and 3. Offering RGCS. Whilst all Theoretical Domains Framework domains were present, barriers were predominantly categorised as ‘Environmental Context and Resources’ e.g., lack of time, followed by ‘Knowledge’ e.g., lack of understanding about genetics and ‘Beliefs about Capabilities’ e.g., concern about giving high risk results to patients. Although health care professionals expressed a preference for offering RGCS through a comprehensive and supported model of care, such as Mackenzie’s Mission, barriers remain. By understanding what drives current health care professionals’ behaviour towards offering RGCS, behaviour change theory provides an avenue to direct future efforts based on evidence and improve service delivery.

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ARTICLE OPEN
The more you do it, the easier it gets: using behaviour change
theory to support health care professionals offering
reproductive genetic carrier screening
Stephanie Best
1,2,3,4,5
✉, Janet C. Long
1
, Zoe Fehlberg
1,2
, Tahlia Theodorou
1
, Sarah Hatem
1
, Alison Archibald
6,7
and
Jeffrey Braithwaite
1
© The Author(s) 2022
Recent advances in genomic sequencing have improved the accessibility of reproductive genetic carrier screening (RGCS). As
awareness and interest grows, non-genetic health care professionals are increasingly offering RGCS to consumers. We conducted a
qualitative interview study informed by behaviour change theory to identify influences on health care professionals considered as
‘early adopters’offering RGCS through Mackenzie’s Mission, an Australian national research study investigating the implementation
of free RGCS to couple’s preconception or in early pregnancy. Interviews were deductively analysed using the Theoretical Domains
Framework to examine barriers and enabling factors. In total, we interviewed 31 health care professionals, who were primarily
general practitioners (n=23) offering RGCS through Mackenzie’s Mission. Upon analysis, 15 barriers and 44 enablers to
implementation were identified and categorised across three health care professional target behaviours 1. Engaging with RGCS, 2.
Identifying eligible patients, and 3. Offering RGCS. Whilst all Theoretical Domains Framework domains were present, barriers were
predominantly categorised as ‘Environmental Context and Resources’e.g., lack of time, followed by ‘Knowledge’e.g., lack of
understanding about genetics and ‘Beliefs about Capabilities’e.g., concern about giving high risk results to patients. Although
health care professionals expressed a preference for offering RGCS through a comprehensive and supported model of care, such as
Mackenzie’s Mission, barriers remain. By understanding what drives current health care professionals’behaviour towards offering
RGCS, behaviour change theory provides an avenue to direct future efforts based on evidence and improve service delivery.
European Journal of Human Genetics; https://doi.org/10.1038/s41431-022-01224-5
INTRODUCTION
Reproductive genetic carrier screening (RCGS) allows prospective
parents to gain knowledge of their chance of having children with
a serious autosomal-recessive or X-linked genetic condition. When
a couple are both found to be carriers of a condition, they have an
‘increased chance’, of having an affected child [1]. As such,
screening is offered preconception or in early pregnancy to
facilitate greater reproductive choices [2]. Recent advances in
technology have increased affordability of RGCS moving from
single-gene testing e.g., Tay-Sachs disease [3] to allowing screen-
ing for multiple conditions (i.e., ‘expanded’screening) driving
international recognition of the benefits to population wide
screening [4,5]. In Australia, RGCS is predominantly available
commercially to individuals or couples, however the cost and lack
of public and medical practitioner awareness of screening
exacerbates inequities of access and outcomes across populations
[6,7]. In response, and to reflect changing practice guidelines,
some national health systems (e.g., Australia, Belgium) have
started investigating population level RGCS [3].
Expanding the availability of RGCS requires non-genetic health
care professionals e.g., general practitioners (GPs), obstetricians,
fertility specialists and midwives to play an important role in
offering RGCS. Decades of single-gene screening have provided a
rich foundation of knowledge about health care professionals’
(HCPs’) perceptions towards offering population-based screening
for individual conditions [8–10]. However, research examining
expanded carrier screening has been limited primarily to genetic
HCP or secondary HCP perspectives e.g., gynaecologists and
obstetricians [11,12] or focused on hypothetical offering in the
primary healthcare setting [13,14]. A recent review identified a
predominance of practitioner level barriers (i.e., lack of practitioner
confidence, interest) and organisational level enablers (i.e.,
professional bodies providing consistent advice) [15].
An in-depth understanding of this area is hampered by a lack of
targeted implementation research examining the implementation
of RGCS at a population scale. The introduction of new practices,
such as offering RGCS, requires a change in practice of the HCPs.
Behaviour change theory provides a way to analyse what is driving
Received: 3 June 2022 Revised: 19 October 2022 Accepted: 25 October 2022
1
Australian Institute of Health Innovation, Macquarie University, Sydney, NSW, Australia.
2
Australian Genomics, Murdoch Children’s Research Institute, Melbourne, VIC, Australia.
3
Dept of Health Services Research, Peter MacCallum Cancer Centre, Parkville, Australia.
4
Dept of Health Services Research, Victorian Comprehensive Cancer Centre Alliance,
Parkville, Australia.
5
Sir Peter MacCallum Dept of Oncology, University of Melbourne, Parkville, Australia.
6
Bruce Lefroy Centre, Murdoch Children’s Research Institute, Royal
Children’s Hospital, Melbourne, VIC, Australia.
7
Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Melbourne, VIC, Australia.
✉email: stephanie.best@petermac.org
www.nature.com/ejhg
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current behaviours (i.e., current practice) of HCPs and identify
interventions that support the new desired behaviour [16]. Theory
informed frameworks such as the ‘Capability, Opportunity,
Motivation and Behaviour’(COM-B) model and associated
Theoretical Domains Framework (TDF) are effective for under-
standing contextual influences on desired behaviour [17]. The
COM-B framework posits that behaviour is a result of our
capability (C) (can we do the activity), opportunity (O) (is it
possible to do it) and our motivation (do we want to do it) (M). The
TDF consists of 14 domains and provides a more granular
understanding of the influences on behaviour. For example,
several TDF domains influence motivation (e.g., Emotion, and
Belief about Consequences) and therefore align with the COM-B
domain motivation (Fig. 1).
In this study, we use qualitative methods informed by
behaviour change frameworks, to investigate the experience of
early adopters of RGCS in the context of a national research
programme. Our objective is to gain an insight into HCPs’
perceived barriers and enablers to offering RGCS.
MATERIALS AND METHODS
Context
This study is part of a larger implementation science programme
investigating strategies to support RGCS implementation in Mackenzie’s
Mission. Mackenzie’s Mission is an Australian Government funded research
study investigating how to optimally implement an easily accessible RGCS
programme in Australia by offering couples free RGCS, testing over a
thousand genes [18]. Details of the study are published elsewhere [18] but
briefly couples were directed to the Mackenzie’s Mission website via an
initial conversation with their GP, obstetrician, midwife, fertility specialist or
genetics HCP. The portal contained information, a decision support tool
and how to register. If the couple proceeded, they collected and posted in
a cheek swab. HCPs were not included in this process but were informed of
results.
Research design
We employed a qualitative approach using semi-structured interviews with
a subset of participating HCPs to gain a rich understanding of the
meanings and interpretations behind individuals’behaviour towards
offering RGCS through Mackenzie’s Mission [19]. We adopted descriptive
phenomenology which can be used to study an area of interest from the
perspective of those involved [20], using behaviour change theory as our
methodological framework.
Participants and recruitment
Throughout the study duration, HCPs from various settings in all Australian
states and territories (including general practices, private/public obstetrics
and midwifery practices, fertility clinics, and community health services)
were able to self-refer into the Mackenzie’s Mission study or were invited
by study genetic counsellors. As the focus of the study was on
preconception RGCS, the intention was for most couples to be recruited
via GPs. HCPs who agreed to be part of Mackenzie’s Mission were provided
with an education session about RGCS and the study processes before
being able to offer Mackenzie’s Mission RGCS to their patients.
HCPs who expressed interest via a pre-education questionnaire and had
been offering Mackenzie’s Mission for >8weeks were contacted via email,
by the implementation research team, and invited to take part in either a
telephone or videoconference interview. One follow-up invitation was sent
for those who did not respond to the initial contact. Using purposive
sampling [21], we selected over 150 eligible HCPs (n=168) to invite to
take part in an interview. HCPs were from a range of professions and levels
of experience of RGCS, in particular GPs as the predominant referrers, and
different state/territories. Those HCPs who declined to participate in the
Mackenzie’s Mission study were also offered an opportunity to interview.
Data collection tools and procedures
An interview guide (Supplementary File 1) was developed using the
behavioural framework COM-B, as a way to categorise sources of
behaviour [22]. For example, ‘what experience do you have with RGCS?’
(C); ‘Starting off, was there anything that would have made offering RGCS
easier?’(O); and ‘What made you decide to offer RGCS?’(M). Participants
were asked about their experiences of offering RGCS and their views on
future RGCS service planning. Whilst the structure of the guide remained
the same, constant iterative comparison [23] of the interview transcripts
led to minor revisions in the interview schedule. Interviews were designed
to take around 30 min, and scheduled at a time convenient for the HCP.
Interviews were disrupted by the SARS-CoV-2 pandemic and began in
August 2020, finishing in August 2021 when data saturation and maximum
variation in sample was reached. Interviews were conducted by three
qualitative researchers (SB, JL and ZF) who had no prior relationship with
participants. All interviews were audio-recorded, de-identified and
transcribed verbatim. Audio-recorded verbal consent was sought and
recorded before the interview.
Data analysis
Interview data was managed in NVivo 12 [24]. Analysis was guided by the
TDF. A coding guide that incorporated the TDF was adapted to the specific
context (Supplementary File 2), revised from a previously published guide
[25]. An important first step to using the TDF is to define the target behaviour
i.e., the core activity that is essential for a change in practice to occur. For this
study ‘offering RGCS’was identified. However, during analysis, two additional
target behaviours became evident. 1. Engaging with RGCS—how HCPs
initially start thinking about offering RGCS; 2. Identifying eligible patients to
offer RGCS to—including pre-conception; and finally the original target
behaviour, 3. Offering RGCS to patients—incorporates the discussion with
potential patients their perceived receptivity and following required process.
Transcripts were examined and deductively coded using the coding guide
(Supplementary File 2) to identify factors that facilitate or hinder HCPs when
offering RGCS. Initially, five transcripts were coded independently by two
researchers (SB and ZF) and compared for discrepancies. One researcher (ZF)
completed the coding with ongoing regular meetings (SB and JL) to discuss
and resolve challenging coding and findings. Reflecting the complexity of
offering RGCS, overarching barriers were identified first before detailing the
underlying barriers and determiningtheir associated TDF coding (SB, ZF
and JL).
RESULTS
Participant characteristics are presented first, followed by the
analysis of the three target behaviour barriers and enablers and
associated TDF codes.
Characteristics of participants
Overall, ~1000 HCPs were enroled in the Mackenzie’s Mission
study. Of the 168 eligible HCPs invited to an interview, thirty-one
agreed. The few participants who actively declined and gave
reasons noted they were too busy especially because of the SARS-
CoV-2 pandemic or they had not offered RGCS due to seeing
different patient cohorts. No HCP who declined to participate in
Mackenzie’s Mission indicated they were available for a follow-up
interview. On average interviews ran for 24 min most were
Fig. 1 Alignment of Capability, Opportunity and Motivation,
Behaviour (COM-B) and Theoretical Domains Framework (TDF) with
abbreviations.
S. Best et al.
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European Journal of Human Genetics

undertaken via videoconference and one participant opted for a
telephone interview. Table 1summarises the characteristics of
interview participants who were predominantly GPs (74%) work-
ing in metropolitan areas of Australia (84%) with a fair
proportional distribution amongst states per population size.
Most participants had prior experience of offering RGCS (68%) and
eight (26%) had experienced a patient receive an increased
chance result as part of the Mackenzie’s Mission study.
Barriers and enabling factors by target behaviour
From the interviews, 15 barriers and 44 enablers (6 of which
related to specific programme components of Mackenzie’s
Mission) were identified across the three target behaviours 1.
Engaging with RGCS, 2. Identifying eligible patients to offer RGCS
to, and 3. Offering RGCS to patients. Whilst all TDF domains were
present, barriers were predominantly categorised as ‘Environ-
mental Context and Resources’followed by ‘Knowledge’and
‘Beliefs about Capabilities’(Fig. 2). Here, we outline the barriers
and report recurrent enablers as reported by participants, further
details are reported in Tables 2–4.
Target behaviour 1: Engaging with RGCS
Two overarching barriers were identified: awareness, understand-
ing and education about RGCS and HCPs’attitudes towards and
beliefs about RGCS. Figure 2and Table 2.
Awareness and understanding of RGCS: Three barriers were
associated with a lack of, or low knowledge of, RGCS within
primary health care.
i. Low awareness of RGCS (TDF: Knowledge) especially
compared with other antenatal tests (e.g., [NIPS]). Enablers
included promotion by their peers, professional bodies, and
their patients raising RGCS (TDF: Social Influence).
ii. Low understanding (TDF: Knowledge) of RGCS was
reported by many HCPs. Education sessions that allowed
HCPs to ask questions were cited as a helpful way to improve
understanding. (TDF: Knowledge and Social Influences).
iii. Time/logistics of participating in education (TDF: Envir-
onmental Context and Resources), was found to be time
consuming, taking away from direct patient contact, though
enabled by receiving professional development points (TDF:
Reinforcement) or making education available through
different modes (TDF: Environmental Context & Resources).
HCP attitudes towards and beliefs of RGCS (TDF: Social and
Professional Role and Identity): Two barriers were identified in this
overarching barrier.
i. Lack of HCP interest (TDF: Social and Professional
Identity), for some HCPs this is attributed to not seeing
the relevant population of patients though others did not
feel offering screening was part of their role. Enablers
include inter-practice referrals (TDF: Environmental Context
and Resources).
ii. Concerns about negative effects (TDF: Belief about
Consequences) e.g., patient anxiety about screening or
financial implications for families who receive an increased
chance result. However, emotional connection acted as an
enabler (TDF: Emotion).
Target behaviour 2: Identifying eligible patients
One overarching barrier was identified in this target behaviour,
opportunities to identify eligible patients. Figure 2and Table 3.
Opportunities to identify eligible patients. Three barriers were
apparent within this overarching barrier: environmental factors
(TDF: Environmental Context and Resources); forgetting to offer
(TDF: Memory Attention and Decision Making); and patients’
personal situations (TDF: Belief about Consequences).
i. Environmental factors (TDF: Environmental Context and
Resources). One HCP reported they would be unlikely to see
a patient (especially a female patient) in a reproductive
healthcare context, a sentiment shared by some of the female
GPs when speaking about their male colleagues. Others were
concerned about when to time making the offer and
questioned whether early pregnancy was an appropriate
time. Several participants reported initiatives to raise aware-
ness of RGCS could function as an enabler (TDF: Memory
Attention and Decision Making) to prompt a change in
patients initiating the conversation with their HCP.
ii. Forgetting to offer (TDF: Memory Attention and Decision
Making). Missed opportunities to identify patients were
commonly cited, especially HCPs forgetting RGCS due to
competing priorities. Most participants spoke about making
RGCS a priority in their practice, so that offering RGCS
becomes part of routine practice, including for same sex
couples (TDF: Intentions). Some incorporated offering into
other screening visits (TDF: Behavioural Regulation) such as
cervical screening.
iii. Perceptions of patients’personal situations (TDF: Belief
about Consequences). Some HCPs were mindful about
raising anxiety for women they see in early pregnancy
assessment clinics or ensuring they take patient’s cultural
beliefs into consideration. Some reflected on their messaging
to be clear that preparing if a child may require early
intervention or have special needs can be helpful. Being able
to build rapport with patients through continuity of care
allowed HCPs (especially midwives) to judge each situation
on a case-by-case basis (TDF: Skills) and ensure RGCS was
offered, or even just mentioned as an option to patients
regardless of their situation.
Table 1. Sample characteristics.
HCP characteristics
(n=31)
n(%)
Gender
Female 26 (83.87)
State
New South Wales 11 (35.48)
Queensland 8 (25.81)
Western Australia 5 (16.31)
Victoria 4 (12.90)
South Australia 3 (9.68)
Region
Metropolitan 26 (83.87)
Inner regional 3 (9.68)
Outer regional 2 (6.45)
Remote 0
Role
GP 23 (74.19)
Midwife 3 (9.68)
Clinical Geneticist 4 (12.90)
Sexual Health Nurse 1 (3.23)
Prior experience with RGCS
Yes 21 (67.74)
Had patient with an increased chance result
Yes 8 (25.80)
S. Best et al.
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Target behaviour 3: Offering RGCS to patients
Two overarching barriers were identified in this target behaviour,
providing pre- and post- test counselling, and patient receptivity.
Figure 2and Table 4.
Providing pre- and post- test counselling. HCPs reported four
interrelated barriers to counselling during these phases.
i. Low consumer awareness (TDF: Environmental Context
and Resources). HCPs reported low consumer awareness of
RGCS and patient confusion with other prenatal tests (i.e.,
NIPS). Consequentially, HCPs described a sense of respon-
sibility to take the time to increase awareness and explain in
an easily digestible way what RGCS involves and considered
themselves well placed to at least raise the topic (TDF: Social
and Professional Identity).
ii. Concern about ability to counsel (TDF: Belief about
Capabilities) were reported by some HCPs especially when not
regularly providing pre- and early pregnancy care including,
mixing up RGCS and NIPS or raising potentially worrying or
distressing information. Genetic counsellors were favoured as a
resource for HCPs to seek guidance, others sought peer advice
(TDF: Social Influences), and some felt practice was key (TDF:
Skills). Particularly for post-test counselling, HCPs reported they
valued having access to genetic counselling support as needed
for both themselves and for couples (TDF: Environmental
Context and Resources and Professional Role and Identify). HCPs
who had patients take up testing felt more confident in their
abilities and in some cases felt rewarded, experiencing patient
gratitudetobeofferedRGCS.
iii. Time constraints (TDF: Environmental Context and
Resources) were a dominant challenge. Coupled with the
previous barriers HCPs were concerned about the time to inform
patients about RGCS. HCPs found the Mackenzie’s Mission
website helpful in this situation, when there were time
constraints they would provide the website and encourage
patients to review the content in their own time (TDF:
Environmental Context and Resources).
iv. Regional barriers (TDF: Environmental context and
resources).HCPsconsidertheMackenzie’s Mission model
facilitated couples living in regional and remote areas acceptable
access and was successfully offered via telehealth. Outreach
services providing education and offering RGCS was cited as a
model that could be used in addition, to reach communities with
limited access to healthcare (TDF: Environmental context and
resources).
Perceptions of patient receptivity. HCPs perceived three barriers in
relation to patients’receptivity to RGCS.
i. Financial barriers (TDF: Environmental Context and
Resources). Cost was identified as a previous barrier to
offering testing, and looking to the future, HCPs felt funding
should cover GCs counselling for increased chance couples
(TDF: Environmental Context and Resources), whereas the
additional services included in Mackenzie’s Mission (e.g., one
round of IVF) whilst generous were considered unlikely to
be sustainable.
ii. Patients’religious and ethical beliefs (TDF: Intentions).
Patients’religious beliefs, or patients with ethical concerns
around termination of pregnancy were discussed by some
HCPs. In most circumstances, HCPs felt they could still
provide patients with the information that allowed them to
make an informed choice in line with their values, framing
the conversation around the benefits of knowing your
carrier status (awareness and preparedness, becoming
knowledgeable about the condition, talking to specialists,
joining support groups etc.) (TDF: Skills).
iii. Not knowing whether the sample has been supplied
(TDF: Environmental Context and Resources). Some HCPs
ant to be made aware when a couple provided a sample to
the laboratory for screening to accommodate follow-up
appointments. Here, HCPs could follow-up with the patient
if required (TDF: Reinforcement).
DISCUSSION
To support any change in a behaviour or activity, such as offering
RGCS, it is essential to clearly specify the target behaviour(s)
required and the associated barriers and enablers at each stage.
Without this understanding there is a risk of investing resources to
design solutions for potentially non-existent problems, wasting
time and effort [26]. This study investigated the experiences of
HCPs, with particular focus on non-genetic professions, offering
population RGCS and categorised findings into three sequential
target behaviours: 1. Engaging with RGCS, 2. Identifying eligible
patients to offer RGCS to, and 3. Offering RGCS to patients. We
identified 15 associated barriers and significantly more enablers
(n=44) which could reflect the nature of the participants, who as
early adopters are often positive about the change and are
understood to influence the behaviour of those around them by
making the behaviour change more observable [27]. Indeed,
Fig. 2 Overview of target behaviours, barriers and enablers to offering reproductive genetic carrier screening. Abbreviations: (Kn)
Knowledge, (ECR) Environmental Context and Resources, (SPRI) Social Professional Role and Identity, (BCon) Beliefs about Consequences,
(MAD) Memory, Attention and Decision Making, (SI) Social Influences, (Sk) Skills (Breg) Behaviour Regulation, (Rein) Reinforcement, (Em)
Emotion, (Opt) Optimism, (In) Intentions.
S. Best et al.
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European Journal of Human Genetics

Table 2. Detailed summary Target behaviour 1: Engaging with RGCS.
HCP awareness, understanding and education
Barrier Exemplar quotes Enabler Exemplar quotes
i Low HCP awareness of
RGCS
TDF: Knowledge
I would say not a lot of GPs are aware
that this was available, like the two GPs
in my clinic were not aware that this was
available even. GP24
Professional body(ies)
promoting RGCS
TDF: Social Influences
I wasn’t all that familiar with it, and it
wasn’t until I did go to an Obs and
Gynae workshop and they were
talking about the different companies
that provide it and that we should be
offering it to everybody, and I was
thinking that I was bit behind the
eight-ball on this. GP29
It helps when the College of
Obstetricians has made statements
that this should be discussed with all
couples or in early pregnancies. I
guess I am just hoping that word of
mouth practice just becomes part of
the vernacular. CG17
Peer(s) promoting and
building RGCS awareness
TDF: Social influences
One of the geneticists told me or it
was at a [local] health day…that we
were obliged as health care
practitioners to offer it [RGCS] or to
increase awareness for
families. MW08
Consumer driven
awareness
TDF: Social influences
One of my patients had brought it
[RGCS] up with me, which was one of
the reasons why I thought I would be
interested to do it [MM]. GP30
HCP awareness of
relevant practice
guidelines
TDF: Knowledge
The first time I read about it was the
RACGP guideline, they said all GPs
should offer it, so it was like, oh gosh!
So I read it about four times and then
started offering it, but I think it took
up to maybe two years after that until
all my colleagues sort of clued
in. GP13
RGCS is an area of interest
TDF: Social Professional
Role and Identity
Because it is one of my interests of
doing women’s health and family
planning, I sort of knew about it
then. GP24
ii Low underlying HCP
genetics and RGCS
knowledge
TDF: Knowledge
…thinking I don’t know too much about
it [RGCS] and how am I going to be able
to offer this service when I know
nothing about it? GP19
RGCS education
TDF: Social Influences and
Knowledge
I found that [education session] really,
really helpful. It was very educational
for me. I was pretty open to [the GC]
initially saying, ‘look, my knowledge
of this is pretty poor now because I
haven’t done genetics properly since
medical school’but probably had a
little bit more awareness than I
thought I did. GP27
I personally learned a lot. I had so
many questions to ask…and the
education did provide me that
education, and I was able to clearly
reiterate that information to the
patients, I think that was my biggest
concern. MW10
Resources for HCPs (GC
support, peers, website
and informative notes)
TDF: Environmental
Context and Resources
I very much felt I had the support of
the research lady here [genetic
counsellor]. And I knew she was
going to be able to help me out if I
knew nothing about it. GP19
One of the staff members has done a
little two-page thing for other staff
members just to make it nice and
clear. GP22
I think there was a lot of information
there [MM website] so I didn’t feel
there was a lot of trouble
understanding it all or the
recruitment process. GP24
S. Best et al.
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European Journal of Human Genetics

Table 2. continued
HCP awareness, understanding and education
Barrier Exemplar quotes Enabler Exemplar quotes
Self-directed learning
TDF: Behaviour Regulation
I did some reading up on this
immediately and then ingrained in
my mind what were the exact
differences [NIPS and RGCS]. GP06
I was doing some reading up and
became aware of the study, because I
felt that was a gap in my knowledge.
Obviously, I was offering all the
antenatal screening, apart from the
genetic carrier screening which is
now something that I do mention to
couples. GP12
Already feeling skilled at
offering RGCS
TDF: Skills
I’m already quite used to talking
about offering that screening. And
also, patients don’t expect me to have
all the answers GP05
iii Time constraints
attending RGCS education
session
TDF: Environmental
Context and Resources
I think the main barrier for them
(colleagues) would be time constraints,
same with me, so initially the training
was an hour zoom meeting, which was
doableGP11
Receiving professional
development points for
completing education
TDF: Behaviour Regulation
If it was a CPD activity and you could
get points back for education I think
that would be more attractive. GP11
Flexible modes of
education
TDF: Environmental
Context and Resources
We could watch the [education]
videos when it suited us, so whether
that be during the day or at night,
that was up to us. SHNurse20
HCPs’attitudes towards and beliefs about RGCS
i RGCS not an interest or
priority or is not in HCP’s
scope of practice
TDF: Social Professional
Role and Identity
Professionally, not a lot of midwives
would understand, or maybe see the
need for pregenetic testing because
they just see the normal births that
come through and don’t realise the
complications. MW04
Not every GP should have to do it
because if someone does it, they should
probably do it well, and they should
probably know the landscape of
different offerings, as opposed to, ‘this is
the only test I know, and it will cost you
$1000’GP13
In my practice of around eight doctors,
I’m the main provider of antenatal care
so I find it can be tricky a little bit when
your colleagues don’t have the same
interest too, so the levels of confidence
and experience in providing
reproductive carrier screening
counselling varies quite a lot throughout
GPs and they’re the main group of
people that I have regular contact
with. GP11
Well-placed in primary
healthcare
TDF: Social Professional
Role and Identity
It fits in so nicely with our current
focus on preconception counselling,
which I think is the domain of the GP
and targeting the woman even
before she starts embarking on her
reproductive course. I think the GPs
are the ones who should be actually
focusing on this and providing this,
and it comes naturally to us…I think
to make it really successful it should
be in primary care, and the RACGP
guidelines they are actually
encouraging us to offer it, so they’ve
embraced it, so as primary care
providers we should be embracing
it. GP06
Other professions who
could offer or be aware of
RGCS
TDF: Social Professional
Role and Identity
We [clinical geneticists] can be later
on, we can be a second tier and we
can tell them this is available, but it
should actually come from a grass
root level because that is where you
would be capturing most of the
population, we see a very niche
population. So, for it to be most
effective, it should be started at the
level of the GPs. We can always be
involved. CG16
You could certainly target fertility
clinics, practise nurses are a good
idea actually because I think that GPs
that have practise nurses, that could
definitely be in their scope. If you are
looking to bring it into nursing and
midwifery the gyn nurses, but
midwifery itself, no. MW08
School nurses should be involved like
the Jewish screening
programme. CG09
I’m a no door is the wrong door kinda
gal. I don’t care if you are a midwife, I
don’t care if you are an obstetrician, a
S. Best et al.
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social influences were shown in this study to be a principal factor
in HCPs’initial engagement with RGCS and increasing awareness
amongst their peers and will play a key role in the success in the
roll out of future population RGCS programmes. Acknowledging
previous research undertaken in this area, here we discuss HCPs’
preferred option for offering RGCS through a comprehensive
model of care, like the approach taken in Mackenzie’s Mission, the
associated challenges and identify implications for future service
delivery. TDF domains are indicated with bold text.
The Mackenzie’s Mission model of care required HCPs to
provide the offer of testing and direct the couple to a study
participant portal. There the couple were provided with education
and a decision aid to make informed decision about RGCS.
Although this approach was designed to minimise the time taken
for HCPs to offer RGCS, it meant HCPs lacked knowledge of the
patients’journey and did not know whether the patient had in
fact accepted the offer of screening. Understanding their role in
the process appeared key to HCPs improving belief about their
capabilities in incorporating this more ‘hands off’way to offering
RGCS into their practice. Some HCPs hoped the model, especially
the online education and consent which is favoured for over-
coming the complexities of consent in genomic medicine [28],
would continue when RGCS becomes more widely accessible.
Equity was raised by many participants. We did not capture data
on HCP ethnicity which may have provided a useful lens with
which to analyse some HCP comments and assumptions on when
to offer RGCS or not. Some HCPs expressed concern about when it
would be appropriate to offer screening for some communities
e.g. migrant populations. There is the risk of unconscious bias
acting as a barrier to equity of access through the offer, or lack of
to RGCS. Whilst no access to technology barriers were reported,
several HCPs raised concerns about potential consequences due
to language barriers for couples from culturally and linguistically
diverse backgrounds being able to access online material without
HCP assistance [29]. The availability of online translation services
may help overcome these concerns [30]. Overall, the ease of
Table 2. continued
HCPs’attitudes towards and beliefs about RGCS
GP, oh for goodness sake let the
pharmacist do it. GP25
Intra-practice referral
TDF: Environmental
Context and Resources
The males do offer it as well, just
some of them, if they’re a bit
uncomfortable, or unsure, or it’s not
their area of interest, at least they
know about it, and they’ll often refer
across to us. GP13
We have very collaborative practice.
So as soon as I had the forms in, I
could email everyone who does
shared care and let them know that I
was able to offer it. And we’ve been
able to work really collaboratively
within our practice for that to
happen. GP26
Supportive
implementation
environment
TDF: Environmental
Context and Resources
We were just ready for it, so genetic
services were happy to recruit. And I
guess also fortunately our laboratory
was keen to be involved. CG17
ii HCP concern about
possible negative
consequences (anxiety,
financial implications)
TDF: Beliefs about
Consequences
The guy I used to work for, an
obstetrician would say ‘oh it’s such a
wretched thing to talk about, screening
for Down Syndrome, you’ve got a young
keen person all excited about pregnancy
and you have to talk about all these
things that could go wrong’…. But yeah
it’s there to have to know about it. GP21
I don’t think there’s much to lose with
the test apart from people being anxious
about their results. GP28
I really think it’s going to be better off
offering it before pregnancy. Because
once they are pregnant and they learn
they have a double abnormal gene, then
they are going to be really worried
through the pregnancy, so I think it
would be better before pregnancy. GP23
Is it going to cost them is a big issue,
because you might think, great, we’ve
got some news for you, you both are
carriers for this, but now we would
recommend IVF and pre-genetically
testing that’s going to cost you a
fortune. Is that a positive? Depends on
the social circumstance of that
family. MW04
Emotional motivators
TDF: Emotion
For me, it’s that I feel I am making a
difference. Mainly again because of
this personal experience of this family
who are going through this whole
journey of a child with SMA [Spinal
Muscular Atrophy]. GP24
Motivated by the value of
RGCS for family planning
TDF: Beliefs about
Consequences
It is like a huge area of potential
benefit for couples long- term that
should be accessible and easy to
offer. GP27
Motivated by improving
equity of access
TDF: Goals
It’s [MM] complementary to what we
were doing anyway, so I just thought
it was a great opportunity to increase
access to our patients. GP05
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European Journal of Human Genetics

Table 3. Detailed summary of Target behaviour 2: Identifying eligible patients.
Opportunities to identify eligible patients
Barrier Exemplar quotes Enabler Exemplar quotes
i Environmental factors (part-
time workload, patient cohorts
and low consumer awareness/
demand)
TDF: Environmental Context and
Resources
I was only working a few days a week; therefore, my
appointments were getting crowded-out by my
regulars. So, the person who is going to the doctors to
ask ‘hey, I was just wanting to know if there is
anything I should be doing before I try to get
pregnant?’or the person presenting saying ‘I’ve got a
positive pregnancy test’couldn’t get into me very
easily. GP14
My clientele seems to be the rusted on 85- to 92-year-
olds - don’t have much pregnancy counselling
there. GP21
There’s men as well doing it, but again women self-
select women for women’s health, men self-select
men for men’s health. So maybe 80/20, not that they
don’t see pre-pregnant women and offer the testing,
but they don’t see as many. GP13
Ihaven’t been able to offer that [RGCS] to the women
because they don’t come in, it’s a very private…it’s
women’s’business in the refugee group. SHNurse20
Intra-practice referral
TDF: Environmental Context and
Resources
ECR
I gave two of the other young female GPs the
information. They basically said ‘Oh it looks great but we
will send them to you’. So that was sort of meant to
happen…then I suspect they forgot about it. GP14
Working part-time it is really hard, but because we have
got nurse coverage over the five days, if there was a
referral, I would have missed it and it would have gone
to one of the other team members. SHNurse20
Clinics advertising or promoting
which HCP to see for pregnancy
planning
TDF: Environmental Context and
Resources
ECR
If I could put ‘If you’re planning on getting pregnant in
the next 6 months consider talking to Dr…’ because I
wasn’t seeing the volume of patients to pick them up by
chance. GP14
Seeing patient pre-conception
TDF: Environmental Context and
Resources
ECR
I guess the ones you would like to see are the ones who
are not actively planning a pregnancy, but they might at
some stage, because by the time they are pregnant…
it’s preferable to do it earlier. GP15
Rasing public awareness (i.e.,
campaigns)
TDF: Environmental Context and
Resources
ECR
You always have that conversation, but you often don’t
have the conversation in the right timeframe. I’m often
aware that patients are, between children if you like, but
they don’t always disclose that they’re actively trying to
have a baby. I guess perhaps it’s something about
marketing or advertising in a wider sense outside of the
practice setting so that people are aware of it. GP03
ii HCP missing opportunities
to offer RGCS
TDF: Memory Attention and
Decision Making
I think I missed a couple where I took the Implanon out
and didn’t think to ask ‘hey would you be interested in’
mainly because I was running two patients behind and
the practice management might kill me. GP14
It’s pretty much just remembering to mention it amongst
the myriad of other things that you have to deal with
that the patient has actually come in for, so unfortunately
sometimes it is a little bit of a second thought. GP11
Making offering RGCS part of
routine practice (antenatal and
general visits)
TDF: Intentions
It’s pretty much routine in my brain that pre/early
pregnancy consult I talk about it…It’s just on my brain
stamp with the list of things I cover. GP28
It’s about raising it as a common question, it’s another
tick box of saying ‘have you had your cervical screening
done? Have you thought about having carrier
screening?’SHNurse20
I have caught quite a few discussing it with cervical
screening because if you have got someone who is
young, you can start to mention it if you know they have
not had kids yet as well. So, there are other times not
just around pregnancy where you can start discussing it
as well. GP23
We have a lot of same sex couples here, so I do ask them
if they know the donor because sometimes they do
know the donor and it’s still a possibility for them to
have the testing. GP10
Patient mentions they are planning
a pregnancy
TDF: Memory Attention and
Decision Making
Some people do come in talking about that they want
to plan a pregnancy in the next 6 months and what
should they do and that’s a lot easier to bring it up then
and talk about it. GP30
Pre-planning which patients might
be eligible
TDF: Behaviour Regulation
I do a bit of a handover on the families coming in for
that clinic, and I’ll look at their history and their situation
S. Best et al.
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European Journal of Human Genetics

access was found complimentary to telehealth and an acceptable
way to offer RGCS for regional/remote areas. The model also
worked for donor couples, where the donor could provide a
sample, allowing HCPs to be able to offer equitable care.
Accessing RGCS through Mackenzie’s Mission still requires HCPs
to have the knowledge and skill to identify patients for whom
RGCS is appropriate. Within the Mackenzie’Mission programme an
extensive amount of work has been conducted and reported on
the role (and design) of education in the implementation of
genomics and large-scale carrier screening programmes. Despite
widespread consensus that RGCS is best situated in primary care,
aligning with HCPs’professional identity, and offered pre-
conception [2,7,31], research shows higher uptake among
pregnant women [32]. Not only does offering pre-conception
allow couples access to greater reproductive options, but our
study also indicates offering in pre-conception lessens other HCPs
barriers (e.g., environmental time constraints in antenatal
appointments, and HCPs concern about the potential conse-
quences for patient anxiety). However incorporating the offer of
RGCS into pre-conception care (public funding capped at 40 min)
appeared to be more challenging, due to a lack of resources and
forgetting to offer due to competing priorities in short
appointment sessions with HCPs finding it easier to discuss RGCS
when the conversation is initiated by the patient [9]. This lack of
time will remain a key challenge and identifying mechanisms to
support HCPs will be essential to drive successful take up and
implementation of future RGCS programmes. Undoubtedly, raising
community awareness of RGCS as a part of pre-conception care is
needed to facilitate greater patient receptivity and ability to make
informed decisions about screening. As patient health literacy was
considered an enabler for HCPs to offering RGCS, increasing
consumer awareness may also improve equity of access. HCP skill
and intentions to incorporate RGCS into general practice
appointments was an attributable factor to opportunistically
identifying pre-conception patients. Although HCPs found raising
RGCS in early pregnancy easier, some HCPs expressed concern
about the consequences with the potential of upsetting the
couple during this period. Fears of medicalising pregnancy have
previously been identified [13,33] and additional tools (e.g.,
decision aids [34]) are required to ensure couples can make
decisions that align with their values [32].
Unlike the other target behaviours, HCPs did not recognise any
Mackenzie’s Mission specific supports provided for the second
target behaviour, identifying eligible patients. Where enablers are
lacking, often in more complex areas (e.g., forgetting to offer RGCS
pre-conception—TDF Memory Attention and Decision Making)
the application of the behaviour change theory, through coding
with the TDF [35], can offer additional theory informed behaviour
change techniques using the Theory and Techniques Tool [https://
theoryandtechniquetool.humanbehaviourchange.org/][36]to
support HCPs. For example, theory informed behaviour
change techniques aligned with Memory, Attention and Decision
Making include ‘prompts and cues’, e.g.,, setting a reminder
on the GP information system to prompt the ‘One Key Question®’
[37] discussion with all patients of reproductive age to ask if they
are planning a pregnancy in the near future. If yes, the HCP can
share a range of health considerations including the option
of RGCS.
One reported area of concern was the need for counselling
couples who receive a 1 in 4 chance of affected children with HCPs’
belief about their capabilities. The Mackenzie’s Mission model
ensured a study genetic counsellor was available and they played a
critical role in supporting HCPs with expert knowledge and skills,
and also couples, as they made reproductive decisions to align with
their values. Further provision of RGCS through primary care will
require careful consideration of how genetic counselling services
could be provided [34,38,39]. Given HCPs perception of their own
ability of offer RGCS appears to be contingent on availability of
Table 3. continued
Opportunities to identify eligible patients
Barrier Exemplar quotes Enabler Exemplar quotes
and say, ‘I think we should target these women - these
are appropriate.’MW04
Visual prompts to remind HCPs
TDF: Environmental Context and
Resources
The website is quite easy to navigate and access, so I’ve
found that I tend to have it in the background just as a
reminder. GP11
Organising a return visit
TDF: Behaviour Regulation
Unfortunately, sometimes it is a little bit of a second
thought. I have actually called patients back…and
patients don’t seem to mind that. GP11
iii HCPs being mindful of
patients’personal situation
TDF: Beliefs about
Consequences
There are some that I just won’t mention it at all, I just
think it’s too much for them [women seen in early
pregnancy assessment clinics]’GP22
Sometimes it’s a bit too much for them [migrant
populations], and then they take away all the information
and they don’t do anything about it, so rather than
putting somebody unnecessarily through so much
turmoil, we can pick and select our patient
population. GP06
Less and less but sometimes we do see their religious
beliefs do not allow them to pursue science in a way we
would like them to…So if there is a clear understanding
that it is going to be a no, then I would not offer it. CG16
Building patient rapport
TDF: Skills
There are some where there is more than one
consultation, I might mention it at the final consultation
like ‘just to let you know this is something that is
available should you be interested.’GP22
A majority of the time I’ve met them on the wards, so I’m
not an unfamiliar face…and I’ve already built some sort
of rapport with them, and I can sit down with them and
say, ‘look, if you are planning future pregnancies this is
something that you might want to consider for
yourself.’MW04
S. Best et al.
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Table 4. Detailed summary of Target behaviour 3: Offering RGCS to patients.
Providing pre- and post- test counselling
Barrier Exemplar quotes Enabler Exemplar quotes
i Low consumer awareness
or understanding of RGCS
TDF: Environmental
Context and Resources
Most people have no idea what
[RGCS] is when I bring it up. They
always go, ‘isn’t that the Down
syndrome testing or the harmony
[NIPS]?’GP07
HCP building consumer
awareness
TDF: Social Professional Role
and Identity
Most patients don’t know anything or
much about it, so it’s a good
opportunity to talk about that it’s
something available now if they are
interested in doing that. GP29
People are very receptive to the
message from us [GPs] and I think the
same with this sort of genetic
screening, I mean people know about
it, but I think we are very trusted to
encourage people to go through and
get the testing done. GP01
Raising public awareness
(campaigns, programmes
like MM)
TDF: Environmental Context
and Resources
It comes down to that poor time
allocation we get given with our client
face-to-face and therefore it needs to
be raised at that social media level,
whether it be radio, flyers, Facebook
whatever format you can think of.
SHNurse20
Raising the profile [through MM] has
been helpful, I think it has made
having the conversations easier.
Among my colleagues as well as
consumers and among midwifery
staff. GP25
Word of mouth
TDF: Social Influences
It’s awareness and whether they have
got friends that have done the same
test before. I think a lot of people now
rely of social media and their friends to
tell them…or convince them rather
than us health professionals. GP24
ii HCP concern about pre-
test counselling ability
TDF: Beliefs about
Capabilities
Because you don’t know what sort of
questions or queries are going to
come up from the patient’s end…So
when you might have two patients
every couple of weeks who comes in
for family planning it can be difficult
to remember all the details. GP11
Resources for HCPs (GC
support and referral
pathways to genetic
services)
TDF: Environmental Context
and Resources &
Social Professional Role and
Identity
I took notes while she [the GC] was
talking. And I still refer to those little
dot points that I made when I’m
educating patients themselves. I
obviously want to make sure that I’m
giving them the right information and
making it easily it’s easily digestible for
them. GP27
Sometimes certain questions that they
ask is beyond our knowledge skill, and
then that’s when we have to call upon
the genetic counsellor to come in and
give their advice. GP06
Seek assistance from peers
TDF: Social Influences
If I know one of the doctors in the
practice is seeing younger people and
doing something I would probably ask
them just because they are very
accessible and easy. Or otherwise, a
trusted senior colleague, one of the
obstetricians of something like
that. GP21
Confidence through
practice
TDF: Skill
The more you do it, the easier it
gets. GP11
I’ve been able to develop my own very
simplistic way of getting the
information across. MW08
iii HCP concern about
post-test counselling
ability
TDF: Beliefs about
Capabilities
I think the main thing would be
concerns from the GPs about having
to possibly counsel someone if they
had a high-risk result. GP02
Access to GC support
TDF: Environmental Context
and Resources &
Social Professional Role and
Identity
As long as it’s made very clear that if
someone does have a high-risk result,
they are automatically referred to
genetic counselling, I think that would
take a lot of the GP concern
away. GP02
Having good genetic counselling back-
up, is the really important thing
because as I said I can’t do that.
Because it is actually really difficult
S. Best et al.
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European Journal of Human Genetics

Table 4. continued
Providing pre- and post- test counselling
Barrier Exemplar quotes Enabler Exemplar quotes
work and really time-consuming work
to do and it is very hard to fititin
when you are not an expert. GP15
iv Time constraints in
consults (antenatal and
general visits, and for
CALD patients)
TDF: Environmental
Context and Resources
With the antenatal appointments
that’s a massive appointment and it’s
hard to get through all the stuff…
There are a lot of different things
that are available and it’s not much
time to discuss what each of them
provide and if they wanted to do
those tests or not. GP29
High consumer health
literacy
TDF: Environmental Context
and Resources
When I start screening I say, ‘do either
of you work in health fields? or have
you done grade 12 biology?’, and if
someone pipes up and says ‘yes’,I’m
like excellent, (laughs), because I know
they’re going to get it straight
away. GP13
I would say time because you’ve got
to do a mini genetics lesson in the
middle of your consult…I can’t
actually practice a good standard of
medicine in six minutes, so, clearly
time is a limiting factor in a lot of
general practitioners’lives. GP13
Financial incentives or
reimbursements
TDF: Environmental Context
and Resources
if we could find any way to increase GP
antenatal care [billing] that would be
really good, because we do get it hard
there. GP18
I do know that for some families
when they do go onto the website,
they do find it difficult to navigate
because of the language barrier, then
I try to spend more time explaining
the project, sometimes because of
time limitations it is not
possible. CG16
Having RGCS offered pre-
conception
TDF: Environmental Context
and Resources
Ifind the first antenatal visit is a very
long consult in itself, so having had the
Mackenzie’s Mission or the carrier
screening discussion done or declined,
either way, it’s sort of that one less
thing you have to do at the first
antenatal visit. GP07
There’s certainly things about the
Mackenzie’s Mission website - I don’t
know whether it’s available in other
languages - and yeah so I think that
would be a barrier. But I would still
tell them to come and see me and sit
down at the computer and translate
it for them with the translator. MW08
Simple and supported
process for HCPs
TDF: Environmental Context
and Resources
It’s time consuming to have the
discussion, and the nice thing about
Mackenzie’s Mission is I can talk about
it as an option…but if they’re
interested I can send them to your
website and they can get a lot more
information from that. GP15
The other thing that I really like is the
way it’s all done online, you don’t
actually have to spend a lot of time
talking about potential outcomes of
carrier screening…And that will be
really attractive to non-genetics
professionals, there’s no way a GP can
do carrier testing in 15 min GC09
In terms of ease, it is just trying to fitit
in with whoever comes in and
sometimes when you are time
pressured it can be difficult, but I
found that not to be the challenge
because I am there just to provide
them that link and the information and
ask them to go away and think about
it. I give them a number [for a GC] if
they want to ask any questions about
it. GP19
Staging the offer process
TDF: Behaviour Regulation
I tell them about it, get them to go and
have a look at the website, and then
get them to book an appointment and
we talk about it as a separate consult. I
always wanted to make sure that their
partner was on board as well before
going ahead. GP01
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Table 4. continued
Providing pre- and post- test counselling
Barrier Exemplar quotes Enabler Exemplar quotes
Resources that help explain
RGCS (website, diagrams,
videos, auto fill request
forms)
TDF: Environmental Context
and Resources
I’ve got the 30 min time allocation with
the client and I’m trying to fitinMMso
I actually handed them my phone and
showed them the little video, and they
could consume that information while
I would be setting up for an
examination. I felt that was a better
recruitment process than me trying to
repeat myself with every potential
client. SHNurse20
Ifind the time is one big factor and I
have developed some diagrams which
I keep with me. I find diagrammatic
representation much easier than
talking through these things. Especially
for the population who are coming
from an English-speaking diverse
background. CG16
It’s always nice to have a form that
works with whatever software the GP’s
using, [the form] is auto-filled and then
that record is still in that patient’s
notes when we’ve sent it. I think if this
was going to roll out, that needs to
happen. GP05
Well-informed about RGCS
TDF: Knowledge
You want to be fully informed on the
concept in the first place, so that it
makes the consult effective, quick, the
information is there, questions can be
answered easily without trying to look
things up. GP07
Concerns around regional
accessibility
TDF: Environmental
Context and Resources
My big thing being rural is, I grew-up
in Melbourne where you have great
access to services but coming to [a
regional town] I realised there is a
lack of access to opportunities.
SHNurse20
Self-collect samples and
telehealth
TDF: Environmental Context
and Resources
I do telehealth sometimes with
countrywomen…so I’m going to try
and incorporate more into the country
women there, and it’s something that I
would have to post out to them. I don’t
know whether that would have any
issues, it shouldn’t do because the
packs are sent out and it’s self-doing. In
theory it shouldn’t, I just have to post
the paperwork out to them. MW04
Dedicated outreach
services
TDF: Environmental Context
and Resources
I think we are going to have to develop
strong community programmes,
whether that is at school…or we have
breast screen vans rolling into
community and whether we do this
with genetic carrier screening to create
awareness. CG17
Perceptions of patient receptivity towards RGCS
i Financial barriers
TDF: Environmental
Context and Resources
The barrier in the past has always just
been cost because it was so
expensive. GP01
Cost is probably a big thing. I have
been surprised by peoples probably
lack of interest in it, and then if they
have to pay $600 on top of that, I
think it would be quite limited. GP30
Funding for RGCS
TDF: Environmental Context
and Resources
It’s probably unreasonable for it to be
this great, like free and testing so many
things but I think there would be really
wide uptake if it was. I think people
have to pay for it even a little bit it
won’t be as popular. GP28
…part of the cost should include the
genetic counselling, I don’t think it
should be an extra. So, everyone pays
X amount for it but that includes the
genetic counselling for those who
need it. GP15
ii Patient beliefs
TDF: Environmental
Context and Resources
Sometimes religious beliefs come
into play. I see populations and
certain ethnicities who would not
want to go ahead with these sorts of
things. CG16
Framing conversations
around the benefits of
knowing carrier status
TDF: Skill
Sometimes there are people like them
who are worried because in Islam we
don’t do a termination very easily…but
I said ‘look even if you don’t go for a
termination, it sets you up so that you
S. Best et al.
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European Journal of Human Genetics

expert genetic counselling and clinical support, it is essential that
population-based programmes provide this support.
In addition to HCP individual level experiences noted here,
future implementation of national RGCS programmes while
dependent on local context [40] may benefit from aspects of
programme design. Figure 3reports several features identified
from this study that can contribute to making reproductive
genetic carrier screening more accessible.
Limitations
Drawing on the experience of early adopters is likely to have
introduced positivity bias, with the possibility that HCPs who were
likely to respond to interview invitations were those most likely
highly engaged with Mackenzie’s Mission. Mitigating that, a third
of participants had no previous experience with RGCS. Of the 168
potential participants we only interviewed 31 either due to lack of
response or the HCP was unable to participate. We were also
Table 4. continued
Perceptions of patient receptivity towards RGCS
It’s [culture] so ingrained, especially
the first-generation migrants,
sometimes that trumps medicine, so
we can go blue in our face
explaining over and over again …
ultimately, it’s just respecting their
beliefs and trying to make the best
out of it and ensuring a positive
outcome. GP06
are aware of what happens
afterwards’. GP18
I might mention that so it’s not
necessarily that you would terminate
the pregnancy but you might choose
to learn a bit about the condition, to
talk to specialists, to join a support
group, peer information and that sort
of thing. GP25
Patients taking up the offer
TDF: Reinforcement
All but two people I’ve discussed it
with have ended up taking up the
opportunity, which is really good. GP26
The reason people chose not to was
they either came from a faith
tradition where that was not
something they wish to enquire
about or even if they didn’t have a
faith background tradition, it was
just they didn’t know what they
would do with that information and
they were aware it was going to
create angst and issues for
them. GP25
Sense of reward for
offering RGCS
TDF: Reinforcement
It’s fantastic, everyone’s been excited
about do it, in fact one of my couple’s
is already pregnant, have just come in
today because they’re pregnant, so
that’s very exciting. GP01
iii Not knowing when
patient’s take-up testing
TDF: Reinforcement
I don’t know who actually decides to
do it until I get their result, however
long later. GP02
Altered when patient
supplies a sample
TDF: Reinforcement
We know how many forms we’ve given
out and slowly the results trickle in but
getting an idea of how many of your
patients have taken up the screening is
nice to know. GP07
Programme Design
Element
Purpose
Example
Comprehensive model
of care
To maximise
support given to health care
professionals and paents
Clear guidance for paents and professionals on purpose,
procedure and outcomes from reproducve genec carrier
screening.
Appropriate paent informaon
and support
To simplify the role of the
Health Care
Professional and maximise a couples’ ability
to make decisions about screening that align
with their values
Online paent informaon with decision
aids and online
translaon
Increase community awareness of
reproducve genec
carrier
screening
To facilitate
offering screening preconcepon
Waing room posters prompng discussion with health care
professionals about pre
-concepon care, educaon campaigns
Health care professional
reminders
(
on electronic record systems)
To facilitate remembering to offer
reproducve genec carrier screening to all
eligible paents
Alert in electronic record systems for paents of reproducve
age and accessing other health intervenons related to
reproducon and/or introducing a roune clinical intervenon
e.g., One Key Queson ® “Are you planning to have children in
the future?” to prompt further discussion about
preconcepon care (including RGCS).
Support for non-genec trained
health care professions to safely
and appropriately return high
chance results
To support healthcare praconers to
sensively deliver increased chance results to
paents and to understand the appropriate
pathways for referral to genec services.
Access to genec counsellors for couples with high chance
results
Training from genecs services in the delivery of increased
chance results and provision of informaon about pathways
for referral to genecs services.
Fig. 3 Examples of aspects of programme design that can contribute to reproductive genetic carrier screening being more accessible.
S. Best et al.
13
European Journal of Human Genetics

unable to capture the views of those who declined to participate
in the Mackenzie’s Mission study. The SARS-CoV-2 pandemic led to
data collection taking over a year, which was longer than planned,
meaning some external contextual factors may have changed.
This study was undertaken in the context of an Australian
Government funded research project where generalisation may
be limited to Australian health system and a well-resourced
research project (under Mackenzie’s MIssion, RGCS is offered free
of charge to the couples, genetic counselling is offered to couples
receiving a high-chance result and to support HCPs so may not
reflect other health systems or state-wide or national RGCS
programmes.
At present, RGCS is offered in an ad hoc manner and access is
variable. Whilst population-based approaches will make access
more equitable, targeted support for HCPs to offer patients
the option of RGCS is required. Behaviour change theory
provides a structured approach to learning from the experience
of early adopters and an opportunity to identify the
determinants influencing implementation. The key steps of
collection and coding of barriers and enablers by each target
behaviour identified outlined here can now be used to select and
test theory informed implementation strategies. Although this
study shows HCPs’strong preference for offering RGCS through a
comprehensive model of care, and various other programme
design elements that reduce barriers, it is essential that future
research continues to leverage behaviour change theory to
develop and test programme design elements that contribute to
RGCS being provided in an equitable and accessible way.
DATA AVAILABILITY
The datasets generated during and/or analysed during the current study are available
from the corresponding author on reasonable request.
REFERENCES
1. Borry P, Henneman L, Lakeman P, ten Kate LP, Cornel MC, Howard HC. Pre-
conceptional genetic carrier testing and the commercial offer directly-to-
consumers. Hum Reprod. 2011;26:972–7.
2. Henneman L, Borry P, Chokoshvili D, Cornel MC, Van El CG, Forzano F, et al.
Responsible implementation of expanded carrier screening. Eur J Hum Genet.
2016;24:e1–e12.
3. Delatycki MB, Alkuraya F, Archibald A, Castellani C, Cornel M, Grody WW, et al.
International perspectives on the implementation of reproductive carrier
screening. Prenat Diagn. 2020;40:301–10.
4. Lazarin GA, Haque IS. Expanded carrier screening. A review of early imple-
mentation and literature. Semin Perinatol. 2016;40:29–34.
5. van der Hout S, Holtkamp KCA, Henneman L, de Wert G, Dondorp WJ. Advantages of
expanded universal carrier screening: what is at stake? Eur J Hum Genet. 2016;25:17.
6. Ioannou L, Massie J, Lewis S, Collins V, McClaren B, Delatycki MB. Attitudes and
opinions of pregnant women who are not offered cystic fibrosis carrier screening.
Eur J Hum Genet. 2014;22:859–65.
7. Archibald AD, Hickerton CL, Wake SA, Jaques AM, Cohen J, Metcalfe SA. “It gives
them more options”: preferences for preconception genetic carrier screening for
fragile X syndrome in primary healthcare. J Community Genet. 2016;7:159–71.
8. Archibald AD, Hickerton CL, Jaques AM, Wake S, Cohen J, Metcalfe SA. “It’s about
having the choice”: Stakeholder perceptions of population-based genetic carrier
screening for fragile X syndrome. Am J Med Genet A. 2012;161:48–58.
9. Baars MJH, Henneman L, Ten Kate LP. Preconceptional cystic fibrosis carrier
screening: opinions of general practitioners, gynecologists, and pediatricians in
The Netherlands. Genet Test. 2004;8:431–6.
10. Cousens NE, Gaff CL, Delatycki MB, Metcalfe SA. Prenatal β-thalassemia carrier
screening in Australia: healthcare professionals’perspectives of clinical practice.
Prenat Diagn. 2014;34:246–50.
11. Janssens S, Chokoshvili D, Vears D, De Paepe A, Borry P. Attitudes of European
geneticists regarding expanded carrier screening. J Obstet Gynecol Neonatal
Nurs. 2017;46:63–71.
12. Matar A, Kihlbom U, Hoglund AT. Swedish healthcare providers’perceptions of
preconception expanded carrier screening (ECS)-a qualitative study. J Commu-
nity Genet. 2016;7:203–14.
13. Holtkamp KC, Vos EM, Rigter T, Lakeman P, Henneman L, Cornel MC. Stakeholder
perspectives on the implementation of genetic carrier screening in a changing
landscape. BMC Health Ser Res. 2017;17:146.
14. Schuurmans J, Birnie E, van den Heuvel LM, Plantinga M, Lucassen A, van der Kolk
DM, et al. Feasibility of couple-based expanded carrier screening offered by
general practitioners. Eur J Hum Genet. 2019;27:691–700.
15. Best S, Long J, Theodorou T, Hatem S, Lake R, Archibald A, et al. Health practi-
tioners’perceptions of the barriers and enablers to the implementation of
reproductive genetic carrier screening: a systematic review. Prenat Diagn.
2021;41:708–19.
16. Michie S, Johnston M, Francis J, Hardeman W, Eccles M. From theory to inter-
vention: mapping theoretically derived behavioural determinants to behaviour
change techniques. Appl Psych. 2008;57:660–80.
17. Atkins L, Francis J, Islam R, O’Connor D, Patey A, Ivers N, et al. A guide to using the
Theoretical Domains Framework of behaviour change to investigate imple-
mentation problems. Implement Sci. 2017;12:77.
18. Kirk EP, Ong R, Boggs K, Hardy T, Righetti S, Kamien B, et al. Gene selection for the
Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mis-
sion”). Eur J Hum Genet. 2020.
19. DeJonckheere M, Vaughn LM. Semistructured interviewing in primary care
research: a balance of relationship and rigour. Fam Med Community Health.
2019;7:e000057.
20. Matua GA, Van Der Wal DM. Differentiating between descriptive and interpretive
phenomenological research approaches. Nurse Res. 2015;22:22–7.
21. Robinson OC. Sampling in interview-based qualitative research: a theoretical and
practical guide. Qual Res Psychol. 2014;11:25–41.
22. Michie S, Van Stralen MM, West R. The behaviour change wheel: a new method
for characterising and designing behaviour change interventions. Implement Sci.
2011;6:1–12.
23. Fram SM. The constant comparative analysis method outside of grounded the-
ory. Qual Rep. 2013;18:1.
24. QSR International Pty Ltd. NVivo qualitative data analysis software. Version 12.
2018.
25. Best S, Long JC, Gaff C, Braithwaite J, Taylor N. Investigating the adoption of
clinical genomics in Australia. An implementation science case study. Genes.
2021;12.
26. Michie S, Johnston M. Theories and techniques of behaviour change: Developing
a cumulative science of behaviour change. Health. Psychol Rev. 2012;6:1–6.
27. Rogers EM. Diffusion of innovations: Simon and Schuster; 2010.
28. Haas MA, Teare H, Prictor M, Ceregra G, Vidgen ME, Bunker D, et al. ‘CTRL’:an
online, Dynamic Consent and participant engagement platform working towards
solving the complexities of consent in genomic research. Eur J Hum Genet.
2021;29:687–98.
29. Kuan AS, Chen TJ, Lee WC. Barriers to health care services in migrants and
potential strategies to improve accessibility: a qualitative analysis. J Chin Med
Assoc. 2020;83:95–101.
30. Al Shamsi H, Almutairi AG, Al MashrafiS, Al Kalbani T. Implications of language
barriers for healthcare: a systematic review. Oman Med J. 2020;35:e122. e
31. Metcalfe SA. Carrier screening in preconception consultation in primary care. J
Community Genet. 2012;3:193–203.
32. Van Steijvoort E, Chokoshvili D, W Cannon J, Peeters H, Peeraer K, Matthijs G, et al.
Interest in expanded carrier screening among individuals and couples in the
general population: systematic review of the literature. Hum Reprod Update.
2020;26:335–55.
33. Tsianakas V, Calnan M, Atkin K, Dormandy E, Marteau TM. Offering
antenatal sickle cell and thalassaemia screening to pregnant women in
primary care: a qualitative study of GPs’experiences. Br J Gen Pract. 2010;
60:822–8.
34. Janssens S, Chokoshvili D, Vears DF, De Paepe A, Borry P. Pre- and post-testing
counseling considerations for the provision of expanded carrier screening:
exploration of European geneticists’views. BMC Med Ethics. 2017;18.
35. French SD, Green SE, O’Connor DA, McKenzie JE, Francis JJ, Michie S, et al.
Developing theory-informed behaviour change interventions to implement evi-
dence into practice: a systematic approach using the Theoretical Domains Fra-
mework. Implement Sci. 2012;7:38.
36. Carey RN, Connell LE, Johnston M, Rothman AJ, de Bruin M, Kelly MP,
et al. Behavior change techniques and their mechanisms of action: a synthesis of
links described in published intervention literature. Ann Behav Med.
2019;53:693–707.
37. Allen D, Hunter MS, Wood S, Beeson T. One Key Question®:first things first in
reproductive health. Matern Child Health J. 2017;21:387–92.
38. Cho D, McGowan ML, Metcalfe J, Sharp RR. Expanded carrier screening in
reproductive healthcare: perspectives from genetics professionals. Hum Reprod.
2013;28:1725–30.
S. Best et al.
14
European Journal of Human Genetics

39. Bieth E, Nectoux J, Girardet A, Gruchy N, Mittre H, Laurans M, et al. Genetic
counseling for cystic fibrosis: a basic model with new challenges. Arch Pediatr.
2020;27:eS30–eS4.
40. Skivington K, Matthews L, Simpson SA, Craig P, Baird J, Blazeby JM, et al. A new
framework for developing and evaluating complex interventions: update of
Medical Research Council guidance. BMJ. 2021;374:2061.
AUTHOR CONTRIBUTIONS
Conceived the study (SB, JL and JB); acquired data (SB, JL, ZF, TH and SH), analysed
the results (SB, JL and ZF), drafted (SB and ZF) and revised the manuscript (JL, TH, SH,
and JB). All authors approved the final version and have agreed to be accountable for
all aspects of the work in ensuring that questions related to the accuracy or integrity
of any part of the work are appropriately investigated and resolved.
FUNDING
The Australian Reproductive Genetic Carrier Screening Project (Mackenzie’s Mission)
is funded by the Australian Government’s Medical Research Future Fund as part of
the Genomics Health Futures Mission (GHFM), grant GHFM73390 (MRFF-G-MM). The
grant is administered by the Murdoch Children’s Research Institute through
Australian Genomics. Open Access funding enabled and organized by CAUL and
its Member Institutions.
COMPETING INTERESTS
The authors declare there are no competing financial interests in relation to the work
described.
ETHICAL APPROVAL
This study was approved by Royal Children’s Hospital, Melbourne, Research Ethics
Committee (HREC/53433/RCHM-2019).
INFORMED CONSENT STATEMENT
Participants provided informed verbal consent once they had reviewed the
participant information sheet and had an opportunity to ask questions.
ADDITIONAL INFORMATION
Supplementary information The online version contains supplementary material
available at https://doi.org/10.1038/s41431-022-01224-5.
Correspondence and requests for materials should be addressed to Stephanie Best.
Reprints and permission information is available at http://www.nature.com/reprints
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© The Author(s) 2022
S. Best et al.
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European Journal of Human Genetics