European Journal of Medical Genetics 68 (2024) 104931

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European Journal of Medical Genetics

journal homepage: www.elsevier.com/locate/ejmg

Disclosure of genetic risk to family members: A qualitative study on

healthcare professionals’ perceived roles and responsibilities
Álvaro Mendes a, *, Milena Paneque a, b, Jorge Sequeiros a, b
a
CGPP – Centro de Genética Preditiva e Preventiva, IBMC – Institute for Molecular and Cell Biology, i3S – Instituto de Investigação e Inovação em Saúde, University of
Porto, Porto, Portugal
b
ICBAS School of Medicine and Biomedical Sciences, University of Porto, Porto, Portugal

A R T I C L E I N F O A B S T R A C T

Handling Editor: A. Verloes This paper presents the perspectives of healthcare professionals regarding their roles and responsibilities in
supporting patients with the disclosure of genetic risk to their families. The study involved eight focus groups and
Keywords: two individual interviews with 34 healthcare professionals working in medical genetics services across Portugal.
Cascade testing The data were analyzed thematically, resulting in three primary themes: i) informing patients about the risk to
Confidentiality
relatives; ii) ensuring patient confidentiality; and iii) encouraging family communication. Participants believed it
Ethics
is their responsibility to inform patients about the genetic risk to their relatives, with patients bearing a moral
Family communication
Genetic counselling responsibility to convey this information. They explained that the principles of medical confidentiality of the
Genetic risk patient take precedence over any direct responsibility to patients’ relatives. Treating personal and familial ge­
netic information separately was perceived as challenging to implement and potentially problematic. While most
participants reported encouraging patients to inform their relatives, the extent to which they facilitate this
communication varies and is also constrained by lack of resources and concerns about complying with legal
requirements. Some participants called for clearer national guidelines. These results contribute for ongoing
discussions regarding the scope of practice and the roles and responsibilities of healthcare professionals in
appropriately cascading pertinent information to at-risk relatives.

1. Introduction
The confirmation of a genetic disease in a patient has implications for
their family members, who might be at risk of developing the condition
or passing it on to their offspring. Sharing genetic risk information with
these relatives enables them to consider undergoing cascade testing,
accessing available screening and preventive measures or treatments,
and making more informed decisions about reproduction and other life-
planning choices. While patients generally understand the importance of
informing their relatives about these risks, this communication is often
challenging (Forrest et al., 2003), resulting in approximately one-third
of at-risk relatives remaining uninformed or not receiving the informa­
tion appropriately (Ahsan et al., 2023). A patient actively refusing to
share information with their relatives (e.g. active nondisclosure) is un­
common (Clarke et al., 2005), but communication may fail for various
reasons (e.g. passive nondisclosure) (Finn et al., 2022). A significant
proportion of patients find disclosing this information burdensome and
would appreciate support from healthcare professionals (HCPs) (Van
den Heuvel et al., 2020). HCPs often facilitate family communication by
providing patients with a “family letter” intended for their at-risk rela­
tives; however, the extent to which this is utilized remains unclear
(Dheensa et al., 2018). When HCPs are unsure whether relevant infor­
mation has reached at-risk relatives, they face challenges in determining
their level of responsibility in ensuring these relatives are aware of their
risks and the extent to which they should take a proactive role in this
task (Grill and Rosén, 2020).
Professional guidelines generally advise HCPs to encourage and
support patients in sharing relevant information with at-risk relatives
(Phillips et al., 2021). However, these guidelines lack clarity and contain
discrepancies that raise concerns about their effectiveness in guiding
HCPs to assist patients in this task (Phillips et al., 2021). In recent years,
some studies begun to examine how HCPs actually address the
communication of risk information within families in practice. A sys­
tematic review concluded that most of the reviewed studies were part of
research interventions rather than descriptions about the actions taken
by HCPs to facilitate family communication (Mendes et al., 2016).

* Corresponding author. CGPP-IBMC, i3S, Rua Júlio A. Carvalho, 45, 4200-135, Porto, Portugal.
E-mail address: alvaro.mendes@ibmc.up.pt (Á. Mendes).

https://doi.org/10.1016/j.ejmg.2024.104931
Received 11 September 2023; Received in revised form 19 January 2024; Accepted 25 February 2024
Available online 29 February 2024
1769-7212/© 2024 The Authors. Published by Elsevier Masson SAS. This is an open access article under the CC BY-NC license
(http://creativecommons.org/licenses/by-nc/4.0/).
Á. Mendes et al.
Another systematic review explored HCPs’ perceptions of their re­
sponsibility to relatives and their role in disclosure; the review found
that while HCPs generally felt responsible for informing their patients’
relatives, they encountered various barriers to sharing such information
(Dheensa et al., 2016). However, most of the reviewed studies used
hypothetical scenarios, primarily focusing on cases of active nondis­
closure, and none specifically investigated HCPs’ perceived re­
sponsibility to inform patients’ relatives. To fill this gap, the same team
investigated the views of HCPs in the UK regarding confidentiality and
responsibilities to relatives on following the UK guidelines (Dheensa
et al., 2017). These guidelines provide HCPs with the option to proac­
tively initiate family contact without revealing the patient’s personal
information (Royal College of Physicians and Royal College of Pathol­
ogists and British Society for Genetic Medicine, 2019). The study
showed that HCPs had difficulties distinguishing between familial and
personal genetic information. They expressed concerns that imple­
menting a familial approach could disrupt family relationships and
erode patient trust in the health service, and reported the need for a
broad consensus on adhering to the guidelines (Dheensa et al., 2017). In
Australia, HCPs acknowledge their responsibility to facilitate disclosure
to relatives, but resource limitations and caution regarding statewide
differences in legislation constrain their role (Young et al., 2020). Some
Australian jurisdictions have guidelines allowing HCPs to breach
confidentiality in specific circumstances. Tiller et al. reported that these
varying regulations may cause confusion among HCPs regarding their
professional responsibilities (Tiller et al., 2020).
Other countries are expanding the responsibilities of HCPs regarding
family disclosure. Changes to the law in France may broaden the obli­
gations of HCPs to ensure that at-risk relatives are informed about their
genetic risk (D’Audiffret Van Haecke and de Montgolfier, 2018), while
in the Netherlands HCPs are allowed to contact at-risk relatives directly
by using municipal personal registry data, after the proband’s consent
(Menko et al., 2023). More commonly, as is the case in Portugal, no
specific guideline or law exists that addresses the disclosure of infor­
mation to patients’ relatives. A law enacted in 2005 established regu­
lations for genetic testing and the collection and circulation of genetic
information (Lei n. 12/2005 – Diário da República n.◦ 18/2005, Série
I-A, 2005). The law mandates that physicians must inform patients of
risks to their relatives, and third-party access to a patient’s genetic in­
formation must be made through a qualified physician with the patient’s
consent. Furthermore, it specifies that genetic information belongs to
the patient and must be used in accordance to medical secrecy (Lei n.
12/2005 – Diário da República n.◦ 18/2005, Série I-A, 2005). In light of
these developments, it is crucial to gain a deeper understanding of HCPs’
roles and their sense of responsibility regarding family disclosure. This is
particularly important given the ongoing debates surrounding obliga­
tions to notify relatives of their potential risks (Grill and Rosén, 2020).
Therefore, the aim of this study was to investigate how HCPs in Portu­
guese medical genetics services perceive their roles and responsibilities
when assisting patients in disclosing genetic risk information to their
families, and how this relates to their practices.
2. Materials and methods
This exploratory cross-sectional qualitative study was part of a larger
project that seeks to explore professional and patients’ perspectives
regarding communication of genetic risk to relatives. The study has
obtained ethics approval.
2.1. Recruitment and sampling
We e-mailed the directors of the five public medical genetics services
in Portugal with information about the study and aims, asking them to
disseminate it among their multidisciplinary teams. Convenience sam­
pling was also employed by inviting HCPs at the meeting of the 2019
Portuguese Society of Human Genetics and through personal
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European Journal of Medical Genetics 68 (2024) 104931
networking. The information leaflet stated that the study aimed to
explore participants’ views on disclosure of genetic risk information to
patients’ relatives, and that their quotes would be anonymized in aca­
demic publications. The only inclusion criterion was HCPs working at
Portuguese medical genetics services.
2.2. Participants
All of the service directors we contacted granted authorization for
the study, with the exception of one who did not respond. In total, 34
HCPs (13 male) participated in the study, comprising 16 clinical ge­
neticists, 10 clinical genetics residents, 5 nurses, 2 clinical psychologists,
and 1 genetic counselor. They had an average of 11 years of experience
in clinical genetics practice, with a range of 1–35 years (Table 1). Par­
ticipants represented 6 healthcare institutions, including 5 public hos­
pitals and one cancer hospital, as well as a genetics clinic at a university
research institute. The participation rate could not be determined as the
number of potential participants reached through the provided infor­
mation is unknown.
2.3. Data collection
We developed a semi-structured guide for the study, drawing from
relevant literature (Mendes et al., 2016; Dheensa et al., 2016; Dheensa
et al., 2017; D’Audiffret Van Haecke and de Montgolfier, 2018). This
guide was initially piloted during the first focus group and subsequently
adjusted to incorporate emerging topics. A total of eight focus groups
and two individual semi-structured interviews were conducted from
December 2019 to November 2020. Individual interviews were con­
ducted with participants unable to attend focus-groups. Both the focus
groups and the individual interviews were conducted in-person, by ÁM,
at the facilities of the respective healthcare services, with the exception
of one individual interview, which was conducted via video call. Each
interview had a duration of 60–90 min. All focus groups/interviews
were conducted and audio-recorded with the participants’ authoriza­
tion; one focus group was not recorded at the request of the participants
(though notes were taken during and immediately after the session). In
each focus group, HCPs from the same service were involved. All par­
ticipants were given the opportunity to ask questions and were provided
with information about the study. Informed consent was documented
before proceeding. We collected professional data from the participants,
followed by questions that focused on: i) their perceived responsibilities
in informing patients’ relatives about genetic risk, including any limi­
tations and challenges; ii) their perceptions and management of the
confidentiality of genetic information; and iii) how these issues related
to their practice. All data collection activities were conducted in full
compliance with COVID-19 sanitary recommendations.
2.4. Data analysis
The recorded focus groups and interviews were transcribed verbatim
in Portuguese, and these transcripts were analyzed thematically, inde­
pendently by ÁM and MP, using coding and the method of constant
comparison (Strauss and Corbin, 1998). The process involved multiple
readings of each transcript to identify key topics. Differences and
Table 1
Participants’ professional background.
Professional background n Years of experience
Clinical genetics specialists 16 17,2
Clinical genetics residents 10 2,1
Nurses 5 6,8
Clinical psychologists 2 22
Genetic counsellors 1 9
TOTAL 34 Mean = 11 years
Á. Mendes et al.
commonalities among the participants’ reports were examined both
within and across the transcripts and were noted. Subsequently, manual
coding was applied to these transcripts, with an ongoing process of
reflection and refinement aimed at elucidating the primary features and
meanings of the identified themes (Strauss and Corbin, 1998). Selected
quotes that aligned with the main themes were then extracted and
translated into English.
3. Results
We have identified three main themes relating to HCP’s perceived
roles and responsibilities: 1) informing patients about risk to relatives; 2)
ensuring patient confidentiality; and 3) encouraging family communi­
cation. Each theme is presented with selected extracts to illustrate key
points. “[…]” are used to enhance the clarity of quotes; “…” indicates
omitted words or sentences; “~” indicates overlapped speech. Each
quote is attributed to either a focus group (FG) or an individual inter­
view (II). Participants are identified by their professional background:
CG, clinical geneticist; GR, clinical genetics resident; GC, genetic coun­
selor; N, nurse; CP, clinical psychologist.
3.1. Informing patients about the risk to relatives
This theme delves into how HCPs perceive their role in informing
patients about the potential genetic risks that may affect their relatives.
Most participants stated that their primary responsibility is to provide
patients (or consultands, henceforth referred to as patients) with
objective information concerning genetic risks and to elucidate the im­
plications for their relatives. For instance, participant FG3A (CG)
expressed this responsibility as “ensuring that patients understand the
importance of conveying pertinent information to their relatives and to un­
derscore its potential usefulness”. Participants generally believed that the
responsibility for informing relatives ultimately rests with the patient.
However, they held differing views on the extent of their role in
encouraging it. While some participants supported the view that patients
have a moral responsibility to share information that could benefit their
relatives, others emphasized their own responsibility “in educating pa­
tients about this responsibility” (FG4D, CP), particularly to facilitate their
early access to targeted surveillance or prevention.
Participants frequently invoked the principle of medical confidenti­
ality to define their professional responsibility as primarily centered on
the patient, rather than their at-risk relatives. For instance, participant
FG2A (CG) expressed this perspective: “I can’t disclose information to
individuals who are not my patients, right? I lack any professional relation­
ship with these individuals, so my duty is directed toward the patient”.
However, some participants expressed concerns that assigning such re­
sponsibility to patients might place an additional burden on them and
make the process of disclosing to their families even more challenging.
Participant FG1E (GC) described this as follows: “It places an additional
responsibility on them, especially when patients are already affected or coping
with unfavorable results”. Other participants explained that some patients
prefer HCPs to inform their relatives directly, with their consent, to
prevent themselves from feeling guilty about causing alarm. Addition­
ally, some participants acknowledged a certain level of moral re­
sponsibility toward relatives, particularly in cases involving a high risk
of medically actionable conditions. Participant FG7C (CG), for instance,
stated: “When there’s a possibility to change the natural course of a disease
… hardly anyone would not feel morally obligated to convey that information
to at-risk third parties."
Other participants, however, declined to accept responsibility when
information doesn’t reach the patients’ relatives. Participant FG8F (CG)
elaborated on this: “As long as I’ve informed the patient about the impli­
cations for their relatives, my responsibility is to state that in the clinical file
and providing the patient with a letter for their GP. My responsibility ends
there … If the patient chooses not to share that information with their family, I
don’t feel any moral obligation in chasing them.” Some participants shared
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European Journal of Medical Genetics 68 (2024) 104931
they sometimes feel “their hands tied” when they realize that important
information has not been shared with at-risk relatives. Some also
mentioned the expanding role of non-genetics HCPs in managing results
with familial implications. For example, participant FG5B (CG)
observed: "It’s possible that some non-genetics specialists may not fully
appreciate the significance of informing the family, as much as a genetics
specialist would".
Some participants brought up the concern of potential discomfort
that unsolicited contact could create among patients’ relatives, citing
their right not to know as a basis for placing the responsibility on pa­
tients. During these discussions, doubts emerged about what a shift to­
wards a duty-of-care to relatives would actually entail in practice. Some
anticipated that this change might lead to confusion regarding HCPs’
perceived responsibilities. Participant FG7A (CG) elaborated on this:
“We should be cautious about intruding into the lives of third parties who
haven’t requested information, and we don’t even know if they would
welcome it … And even if they do, how could we possibly be held responsible
for reaching out to all relevant relatives? By what means?"
These accounts also highlighted concerns about the practical aspects
of directly contacting relatives and the potential negative impact it could
have. Participant FG8A (CG) underscored the absence of clear guidelines
and explained that genetic services are not equipped for such actions:
“Without specific guidelines that define what we can and cannot do, the best
we can do is to inform the patient … We cannot feasibly reach everyone, and
we simply lack the time, resources, and training to do so".
3.2. Ensuring patient confidentiality
This theme explores HCPs’ perspectives on their responsibility to
safeguard patient confidentiality while managing genetic information.
While acknowledging the significance of ensuring that pertinent infor­
mation reaches at-risk relatives, the vast majority of participants
emphasized their primary responsibility to maintain the confidentiality
of their patients throughout the process. HCPs generally observed that
patients tend to inform at-risk relatives. However, they also mentioned
several examples of uninformed relatives, including instances of
unconsented disclosure. In these situations, there were no mentions of
breaching patient consent to contact relatives. Discussions have thus
revolved around nondisclosure, and the conflict between HCPs’ duty to
maintain patient confidentiality and the need to inform at-risk relatives
about potential risks. It was generally implied that using familial in­
formation obtained from a patient to inform relatives of their risk would
necessarily constitute a breach of confidentiality. References to the law
were made to support this perspective: “The law explicitly states that the
information belongs to the patient, and confidentiality cannot be violated”
(FG8G, CGR); “A patient must provide authorization for the sharing of their
information; otherwise, it would be a legal infringement” (FG7A, CG).
When discussing methods of sharing familial information from a
patient’s test results with relatives without revealing the patient’s
identity (Parker and Lucassen, 2018), most participants observed that it
would present challenges:
FG1A (CG): “Patients could be informed prior to testing that the results
are not exclusively theirs but also concern their relatives, and that we’ll notify
them if ~”.
FG1H (CGR): " ~ As long as we can preserve the patient’s confidentiality
… so relatives would only be informed of their risk for the pathogenic variant
without identifying the proband”.
FG1D (CGR): “But even then, it would lead them [relatives] to suspect
that someone in the family is affected ~”.
FG1E (GC): " ~ They [relatives] could easily figure out who the patient
is.
This passage highlights some of the concerns raised when consid­
ering a familial approach to confidentiality, with the primary concern
being the potential for patients’ identities to be inferred. Others
mentioned that assuming a duty of care for at-risk relatives would pose
challenges, as determining which relatives should be informed and how
Á. Mendes et al.
to do so would be complex. Participants also believed that separating
personal and familial information in consent conversations could be
confusing for patients. Additionally, it was anticipated that some pa­
tients might opt out of genetic testing when informed that the genetics
service would share familial information if it could benefit family
members. Participant II9 (CP) explained: “In families with disrupted dy­
namics, some individuals seeking testing may become defensive and move
away once they realize that relatives would be informed regardless”.
Participants were also concerned that sharing any information could
constitute a breach of patient confidence and lead to legal consequences.
Some expressed doubts, or were unaware, about the concept of familial
approach to confidentiality, referring to it as a “grey area” and “fog
curtain”, and suggested that the clinical genetics community had not yet
reached a consensus on the limits of confidentiality. Participant FG3A
(CG) specified: “We need absolute clarity on whether there are guidelines
stating that information is no longer confidential when it benefits relatives,
and if such guidelines exist, what procedures must be followed … [In their
absence] we should follow to the law”.
When discussing ways to provide relatives with pertinent informa­
tion while safeguarding patient confidentiality, FG4B (CG) mentioned
that the service’s consent form includes an opt-in clause concerning
whether the medical genetics service may access the patient’s clinical
file: “This enables us to use information on the familial pathogenic variant
stored in a patient’s file to assist a relative visiting the service, without
disclosing any information that would confirm the familial risk … also in
cases involving deceased patients”.
3.3. Facilitating family communication
This theme addresses HCPs’ views on assisting patients in commu­
nicating genetic risk information within families. Participants generally
advocated for the sharing of information with at-risk relatives and
shared examples from their practice. They explained that they discuss
the risk to relatives with patients “during pre-test counselling and indicate
which relatives should be informed, and why, post-test” (FG2B, GN). Some
further elaborated that their approach varies based on the availability of
effective medical interventions. Participant FG7B (CG) stated: “My level
of neutrality or insistence [when encouraging patients to inform their
relatives] is not the same for a patient with a variant associated with a
treatable cancer compared to a patient with a variant linked to an incurable
neurological condition".
Participants reported employing diverse strategies to encourage
disclosure. For instance, some provide patients “with a letter or a copy of
the patient’s clinical report outlining the risk to relatives and the service
contact details, so that relatives can reach out if needed” (FG1A, CG). The
majority of participants indicated that they more actively discuss the
importance of family disclosure when patients report obstacles to
intrafamilial communication, e.g. conflict or lack of contact. This in­
cludes “insisting and asking patients about whether they have informed their
relatives” (FG8B, GN). Other participants make themselves available to
facilitate conversations with at-risk relatives or refer the patient to the
service’s clinical psychologist for a deeper exploration of family dy­
namics. Participant FG2A (CG) mentioned that they used to “book
additional consultations to revisit the family pedigree and identify which
relatives should be informed”. Others “offer to contact relatives by phone
during the patient’s consultation, with the patient’s consent” (FG1E, GC).
Patients tend to consent to permit direct contact to genetic relatives, but
HCPs prioritize patient-mediated disclosure.
Participant FG3B (CG) emphasized the significance of discussing
family communication and the potential consequences of non-disclosure
on family relationships and the patient’s psychological well-being: “I
often go through hypothetical scenarios with the patient, like ‘what if your
family discovers that you’ve been hiding this information from them?’ Pa­
tients often don’t realize the impact on others until they are prompted to think
about it … I attempt to show that disclosure may prevent strained relation­
ships within the family and that being open can also relieve them [patients] of
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European Journal of Medical Genetics 68 (2024) 104931
the burden of keeping a secret”.
Some participants expressed concerns about the need to prioritize
their workload with their own patients over discussing family commu­
nication. For example, participant FG7B (CG) explained, “Our role isn’t to
police patients to check whether they have informed their relatives or to chase
down family members”. The limitations on how much HCPs can address
family communication led to discussions about less time-consuming
strategies to support family disclosure, such as asking patients about
their preferences at pre-test counselling and confirming those prefer­
ences post-test. Participant FG8F (CG) described the sharing of infor­
mation with relatives should be framed as a collective effort rather than
solely focusing on the patient’s responsibility: “We don’t mean to burden
them [patients], but rather to convey a positive message that through this
communication we are striving to reach everyone who might benefit from it”.
4. Discussion
This study is the first to present the perspectives of HCPs in Portugal
regarding their responsibility to inform patients’ relatives about genetic
risks. The findings indicate that HCPs believe it is their responsibility to
inform patients about the genetic risk to their relatives, with patients
bearing a moral responsibility to convey this information. However,
participants raised concerns about whether the placement of this re­
sponsibility in patients might create an additional barrier to family
disclosure. This aligns with existing evidence suggesting that patients
often perceive the communication of genetic risk to relatives as difficult
(Forrest et al., 2003; Finn et al., 2022; Van den Heuvel et al., 2020;
Dheensa et al., 2018). In addition, participants recognized a sense of
responsibility toward patients’ relatives, especially in cases involving a
high risk of avoidable and serious harm. However, their commitment to
adhere to the country’s legal requirements (Lei n. 12/2005 – Diário da
República n.◦ 18/2005, Série I-A, 2005) and the duty to safeguard pa­
tient confidentiality and privacy take precedence over a direct re­
sponsibility to patients’ relatives.
Our findings also suggest most participants had not considered
treating familial genetic information differently from personal infor­
mation. HCPs anticipated difficulties in addressing that distinction with
the patient, and they expected that patients may also face similar diffi­
culties. They expressed concerns that making such distinctions might
compromise patients’ consent and confidence. These observations
resonate with studies that found that concerns related to ethical and
legal regulations can present challenges in fulfilling responsibilities to­
ward patients’ relatives (Dheensa et al., 2016; Dheensa et al., 2017;
Tiller et al., 2020; D’Audiffret Van Haecke and de Montgolfier, 2018). A
familial approach to confidentiality, as proposed to acknowledge the
interests of known genetic relatives of the patient, suggests that genetic
information should be regarded as confidential at the familial level
rather than the individual level (Parker and Lucassen, 2018; Lucassen
and Gilbar, 2018). This concept is grounded in a relational under­
standing of autonomy (Dove et al., 2019). In our study, HCPs expressed
the belief that it would be challenging to provide a patient’s relative
with familial information obtained from the patient’s genetic test
without inadvertently revealing the patient’s identity. While such in­
formation may legitimately be used without disclosing the patient’s
identity, provided no identifiable personal information is shared, it is
reasonable to assume that doing so would often present difficulties
(Lucassen and Clarke, 2022). A study conducted in the UK reported that
HCPs held mixed opinions regarding whether this practice would
constitute a breach of confidentiality, although they expressed concerns
about the potential negative impact on family relationships (Dheensa
et al., 2017).
HCPs reported assisting patients in sharing information with the
family through written materials, such as providing a family letter and a
copy of the clinical report. However, using these resources leave HCPs
uncertain about whether the relevant information has been conveyed
(Dheensa et al., 2018). The findings also suggest variations in the extent
Á. Mendes et al.
to which HCPs address family communication, and the responsibilities
involved in informing at-risk relatives during consent conversations.
Notably, discussions about family communication tended to arise pre­
dominantly when intrafamilial communication proved difficult. This
suggests that HCPs did not always prioritize these discussions at the
outset of their interactions with patients. This variance may be attrib­
uted to differences in participants’ professional backgrounds, which
emphasize family communication to a lesser or greater extent. In
Portugal, and in many other European countries, genetic counsellors and
clinical psychologists are not yet commonly integrated into multidisci­
plinary teams (Pestoff et al., 2018). It should be noted that limited dis­
cussions of family communication can make it challenging for patients
to articulate their preferences, values, and support needs (Srinivasan
et al., 2020). Early consideration of potential communication challenges
is emphasized as an important strategy for facilitating family commu­
nication (Young et al., 2019).
Furthermore, our participants suggested that specific guidelines
would be beneficial and necessary. The absence of legislation or the
discrepancy between guidelines and policies in most countries could
leave HCPs uncertain about their responsibilities (Phillips et al., 2021).
The ESHG policy on whole-genome sequencing emphasizes the need to
establish guidelines to regulate the disclosure of information to family
members (Van et al., 2013). However, it is important to note that
guidelines alone do not guarantee improved practice, as some HCPs may
lack awareness or misinterpret guidelines and the law (Phillips et al.,
2021; Dheensa et al., 2016). Therefore, it should be kept in mind that
analyzing cases individually and engaging in discussions about ethically
challenging scenarios can aid HCPs in recognizing and addressing these
issues.
Some limitations need to be acknowledged. Generalizing the findings
to all Portuguese HCPs and to other countries must be restricted.
Nonetheless, our study included HCPs from four out of the five medical
genetics services in the Portuguese National Health Service, among
others. Another limitation relates to the potential bias introduced by
using focus groups, which can inadvertently skew the representation of
participants’ opinions. While focus groups provide a platform for par­
ticipants to use others’ ideas as cues to more fully express their own
views, they can also restrict less experienced individuals, such as resi­
dents, from participating confidently. Furthermore, more vocal partici­
pants may dominate the discussion, leading to their views being
disproportionately reflected (Krueger, 2000). Additionally, it’s worth
noting that the facilitator/interviewer had prior or ongoing professional
relationships with four participants, which could have introduced bias
into the resulting data.
In conclusion, the findings of this study underscore that HCPs
perceive a responsibility to inform patients about the genetic risk for
their relatives. However, the extent of their proactivity in encouraging
and assisting patients in informing at-risk relatives varies significantly
due to concerns related to legal requirements, breach of patient confi­
dentiality, and structural barriers. This study provides insight for further
discussions regarding the scope of practice, roles, and responsibilities of
HCPs in assisting patients to cascade information to at-risk relatives. The
results also raise questions about whether Portuguese genetics services
and HCPs have the necessary resources to confidently address family
communication and the potential impact of specific guidelines on
facilitating this communication. Further exploration of the feasibility
and acceptability of practical means for HCPs to inform relatives directly
without disclosing patients’ identities should be undertaken. Further­
more, process studies in genetic counselling (Biesecker and Peters,
2001) can offer additional insights into provider barriers to family
communication. This could involve examining how HCPs address
disclosure to the family in practice, including HCPs’ understanding of
non-directiveness and how they implement it while discussing family
communication issues with patients.
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European Journal of Medical Genetics 68 (2024) 104931
Funding sources
ÁM acknowledges funding from the FCT - Fundação para a Ciência e
Tecnologia (CEECIND/02615/2017). Part of this work has also been
financed by FEDER - European Fund for Economic and Regional
Development (COMPETE 2020 - POCI, Portugal, 2020) and by FCT in
the framework of the project “Instituto de Investigação e Inovação em
Saúde” (POCI-01-0145-FEDER-007274).
Ethics approval
All procedures followed were in accordance with Portuguese legis­
lation and the Helsinki Declaration of 2000. The study was approved by
the Committee for Ethics and Health (Ref. INV127.956/2019) of the
Centro Hospitalar Universitário de Lisboa Central. Informed consent was
obtained from all participants included in the study. No non-human
animal studies were carried out by the authors for this study.
CRediT authorship contribution statement
Álvaro Mendes: Conceptualization, Data curation, Formal analysis,
Funding acquisition, Investigation, Methodology, Validation, Writing –
original draft, Writing – review & editing. Milena Paneque: Data
curation, Formal analysis, Writing – review & editing. Jorge Sequeiros:
Supervision, Writing – review & editing.
Declaration of competing interest
The authors declare that they have no conflicts of interest.
Data availability
The authors do not have permission to share data.
Acknowledgements
The authors are grateful to the study participants and their services.
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