Boyer 

et al. BMC Primary Care (2022) 23:37

https://doi.org/10.1186/s12875-022-01650-w
BMC Primary Care

RESEARCH Open Access

Representations of personalised medicine

in family medicine: a qualitative analysis
Marie S. Boyer1*, Daniel Widmer1,2, Christine Cohidon1, Béatrice Desvergne3, Jacques Cornuz1,
Idris Guessous4 and Daniela Cerqui5 

Abstract 
Background:  The promise of personalised medicine (PM) to transform healthcare has sparked great enthusiasm
in the last years. Yet, its lack of consensus around the nature and scope of the concept has ended in terminological
confusion amongst the users in primary care. We aimed to investigate the perceptions of doctors and their patients in
response to this evolving concept. This present article focuses on the general understanding of personalised medi-
cine, underlining the confusion over the concept.
Methods:  Semi-structured comprehensive interviews were conducted with 10 general practitioners (GPs) and 10
of their patients. The purposive sampling took into account the doctor’s age, sex, and place of practice (rural/urban);
each doctor recruited one patient of the same age and sex. Each interview began with the same open-ended ques-
tion about the participant’s knowledge of the topic, after which a working definition was provided to continue the
discussion. Using the grounded theory method, the analysis consisted of open coding, axial coding and selective
coding.
Results:  From our present analysis focusing on the general understanding of PM, three main themes representing
the concept emerged. The first two representations being “centred on the person as a whole” and “focused on alterna-
tive and complementary methods”, in which the therapeutic relationship was stated as key. The third theme “medicine
open to innovation” involved the few participants who had a good understanding of the concept and could associate
personalised medicine with genomics. For those who value therapeutic relationship, the risks of accepting innovation
could result in “fast-food” medicine and interpersonal barriers.
Discussion:  PM is predominantly unfamiliar in family medicine. It is misinterpreted as a holistic or integrative type of
medicine. This semantic confusion probably lies in the choice of the label “personalised” or from the lack of a uniform
definition for the term.
Keywords:  Personalised medicine, Family medicine, Conceptual confusion, Representation, Definition, Health
concept

Background and preventive strategies based on an individual’s

The concept of personalised medicine has generated genomic, epigenomic and proteomic profile [1]. Today,
great enthusiasm in the last years, promising to revolu- PM is mostly applied in oncology for molecular diag-
tionise healthcare with optimised diagnostic, therapeutic nostic purposes and pharmacogenomics, which allow
the prediction response of a specific pharmacological
treatment [2–5]. However, considering the prevalence of
*Correspondence: [email protected]
1
Department of Family Medicine, Centre for Primary Care and Public chronic diseases encountered in family medicine, such
Health (Unisanté), Lausanne, Switzerland as cardiovascular diseases, type 2 diabetes mellitus and
Full list of author information is available at the end of the article

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Boyer et al. BMC Primary Care (2022) 23:37 Page 2 of 8

neurodegenerative diseases, the PM approach could help care for the prevention of chronic diseases using DTCGT
improve patient care and disease management with the [23, 27, 28].
right tools that target high-risk individuals [6–10]. Sci- The present study explored the understanding and
entists in favour of this approach agree that the imple- knowledge about personalised medicine amongst GPs
mentation of PM by general practitioners would focus and their patients (emic perspective) using an open-
on active surveillance, encourage patient participation ended question “what does PM mean for you?”. Secondly,
in their care, considerably improve quality of life, and after giving to the interviewees an expert definition of
potentially reduce health costs [1]. Even if the concept of personalised medicine (etic perspective) we investigated
personalised medicine is well defined in specialised med- how GPs and patients anticipated the prospective appli-
ical literature, it lacks credibility in general practice in the cation of PM in the management of chronic diseases by
absence of evidence-based research in this domain. reviewing their expectations, foreseen and predicted
Consequently, there seems to be a general unawareness impacts on patient care and their needs, similarly to
and lack of experience of personalised medicine among Najafzadeh M et  al., who recognized that the concept
GPs, which makes its application in family medicine quite of PM, as defined by geneticists, was not familiar to GPs
challenging [11–19]. Barriers to integrating personalised [20]. We used our dual medical and anthropological per-
medicine in clinical practice have been widely discussed spective to help us consider the importance of the inter-
in literature [20]. Some of these include a deficiency in viewees’ interpretations (emic perspective) and develop
basic genetic knowledge, skills for decision-making in the consequences of such perspectives [29].
daily practice, unfamiliarity with genetic tests available
on the market such as direct-to-consumer genetic tests Methods
(DTCGT) and limited access to genomic medicine exper- Design
tise [11–18, 20]. It has also been demonstrated that train- We chose a semi-structured comprehensive interview
ing, education and the development of best practices and method to confer with a total of 20 participants. All
guidelines would be key before adopting PM in everyday interviews started with an open-ended question to cap-
clinical practice [19]. ture the participants’ own insights on personalised medi-
However, the discourse on the risks and limits of PM is cine before providing them with a working definition,
complicated by its terminological ambiguity. The absence based on an expert’s consensus (etic perspective). The
of one uniform definition has fostered conflicting inter- information collected allowed us to create a quantita-
pretations among different professions such as biomedi- tive questionnaire to patients and a Delphi to GPs, there-
cal sciences, pharmaceutical industry and healthcare fore completing the quantitative part of the project [27,
workers [14]. Some have argued that the definition of 28]. Interviews were led by either a general practitioner
PM should include focus on the person, the relationship trained in qualitative research or an anthropologist, and
between carer and patient, and also take into considera- were driven to encourage open discussions.
tion the physical-psychological equilibrium, fearing that
genetic medicine will overlook other aspects of individu- Ethical considerations
alization [21, 22]. In short, there are several possible con- As the data transcribed were anonymized and no health
ceptualisations in personalised medicine, which can be data was collected, the ethics review board of the Canton
classified in 3 groups: that of the scientists/geneticists of Vaud, Switzerland authorised the project under a sim-
and researchers; that of general practitioners, and that of plified and accelerated procedure (Req-2018-00160). All
patients. We focused on the last two conceptualisations. study procedures were conducted in accordance with the
In Switzerland, PM has certainly sparked much interest SRQR guidelines [30].
amongst many professions, including sociology, anthro-
pology and ethics. Within the general public, direct-to- Recruitment
consumer genetic tests have also grown in popularity in For this study, we solicited GPs in Romandy, the French
the last years. Owing to this rising interest in genomics, speaking part of western Switzerland. We used purposive
the Leenaards Foundation launched “SantéPerso” (per- sampling technique and selected GPs based on age, sex
sonalised care) in 2017, as a means to promote research and place of practice (rural/urban). Each GP included in
and interdisciplinary discussion around genomics and the study was asked to each recruit one patient in their
PM [23]. To our knowledge, studies related to person- practice, of the same age and sex. Altogether, we inter-
alised medicine that were conducted in Switzerland did viewed 10 general practitioners and 10 patients. An
not directly address its value and role in family medicine information sheet explaining the purpose of the project
[24–26]. One of the research projects of the Leenaards was sent to the GP accepting the interview and the latter
Foundation seeks to investigate the role of PM in primary was responsible to give another explanation sheet to the

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 Boyer et al. BMC Primary Care (2022) 23:37 Page 3 of 8

patient he/she selected. The patient signed the informed to no experience with personalised medicine. From the
consent. analysis, three main representations of the personalised
medicine emerged and data from the participants’ per-
Data collection spective were further evaluated and were organised into
Data collection involved audio recordings of the indi- a concept map (Fig.  1). Quoted statements have been
vidual interviews that followed a semi-structured guide. included in order to support this map.
The guide consisted of broad themes, including the gen-
eral understanding of personalised medicine, its impacts
Medicine centred on the person as a whole
in clinical practice, perceived challenges to integrating
Most GPs interviewed interpreted PM as an approach
PM in family medicine. Each interview began with the
that considers the physical, psychological and social
same open-ended question about the understanding of
characteristics of the person. They agreed that the term
the term “personalised medicine”. The discussion then
“personalised” means to nurture interpersonal relation-
followed the broad headings of the guide with specific
ships, communication and sharing of information and
probes or examples given if the participant did not bring
trust. GPs mention that having enough time for consulta-
up the topics spontaneously.
tions and providing patient support and treatment guid-
ance are fundamental in clinical practice.
Analysis
Through this approach, they want to have a global
Interview recordings were transcribed verbatim,
vision of each patient’s situation:
anonymized and analysed as per techniques used in the
grounded theory method [31]. The verbatim transcripts “It is about recognising the patient as unique,
were subsequently coded (a GP and an anthropologist beyond just his genetics and heredity. It’s about con-
coded the first 10 interviews, and all 20 interviews were sidering his psychological functioning, life experi-
again coded by 2 GPs), using the qualitative data analy- ence, ability to manage stress, profession, social sta-
sis software MAXQDA12, creating a coding manual after tus and then the medical conditions or risks thereof.
the first 10 interviews. After coding all 20 transcripts, no It’s a whole package!” (M4)
new salient items emerged, indicating that we reached
In Switzerland, GPs are often under time constraints,
saturation in salience [32]. Coders exchanged and dis-
considering that fees are based on time and time is
cussed the interpretation of data patterns and used a
restricted. However, GPs want to be more involved in
constant comparison method. Axial coding followed, in
patient care through the possibility of having enough
order to release pairs of properties, and finally for selec-
time for consultations, patient support and counselling:
tive coding, team members reached a common ground
through several discussions. This process of triangulation “We already apply personalised medicine. In gen-
for data analysis enhanced reliability of the process and eral medicine, we certainly already use it, without
the results [33]. being in the specifics of genetic tests and the study of
The data were separated to present a first set of results the genome. In my opinion, I don’t know if others do
with special focus on the participants’ personal percep- … but I define this (my profession) as personalised
tion of PM (emic), before being given a working defini- medicine there’s involvement and sharing of infor-
tion. A second article will be published at a later date, mation with the patient [ … ]” (M9)
where we will address the participants’ responses after
we introduced the concept to them. Quoted statements “I hope to have always the time to discuss, to be able
from the candidates were translated verbatim to English to give one hour to a patient who has existential or
as much as plausible by one of the English-speaking co- life questions. [ … ] Doctors are always needed to
authors, to support our data. provide support” (M2)
Their patients expressed a similar understanding of PM,
Results
where the person is the focal point. They emphasised the
In total, twenty participants were interviewed: 10 gen-
doctor-patient relationship, where GPs would take the
eral practitioners and 10 patients. 8 participants lived/
time to listen and involve them in all aspects of care:
practised in the rural areas of Romandy, and 12 partici-
pants were from the urban region. The age range varied “Nurses and doctors are now increasingly involved
between 35 and 70 years old, and 8 of the participants in patient care, and show concern for the patient.
were female (4 GPs and 4 patients). We now find an approach focused on the person in
Overall, despite the information sheet provided, the patient care and management, care that is centred
majority of participants had limited knowledge and little on his needs, on his characteristics [ …]. ” (P7).

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Boyer et al. BMC Primary Care (2022) 23:37 Page 4 of 8

Fig. 1  Concept map showing the knowledge of personalised medicine from the participants’ points of view

Medicine focused on alternative and complementary Medicine open to innovation

approaches This representation encompasses genomics and other
Some patients referred to non-conventional approaches new technological advancement of medicine. A few
of medicine, where alternative and complementary participants provided a relatively accurate definition of
methods meet traditional evidence-based medicine. PM:
When asked to give examples of personalised medicine,
“So for me, what first comes to mind … is mainly
a patient brought up their naturopathic practitioner,
research on a genetic level, to study either diseases,
who regards the person on both the physical and psy-
or specific genes which could be used to develop
chological levels:
treatment for a patient [ … ]” (M10)
“I see a naturopathic practitioner, and I think she
does that. Because she enquires about my emo- “A type of medicine that is customised … truly indi-
tions, my symptoms, and yes, she takes a global vidualised for each patient … based on their genetic
approach to my being. It’s about more than just characteristics. As you see, my body, my heredity is -
telling me « you have a pimple, let’s see … does it umm - different from another person. So, I probably
itch? Etc etc [ … ]»” (P3) have (genetic) mutations … An effective treatment
for me, is not necessarily so for someone else … ” (P7)
This interpretation of personalised medicine also
derives from the caring perspective. It shares similari- These interviewees had knowledge of personalised
ties with that of “the person as a whole”, in the way that medicine either from personal experience (in the area
one keeps the overall vision in mind, take the time for of oncology) or from the media. PM had indeed stimu-
patients and provide them with the support required. lated much public interest and awareness in 2013, from
According to the participants, these are prerequisites the widely broadcasted “Angelina effect”, in connection to
before introducing any medical innovations. heredity breast cancer.

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 Boyer et al. BMC Primary Care (2022) 23:37 Page 5 of 8

“[ … ] I read in the newspaper that Angelina Jolie just go with the flow.” (M2)
had a double mastectomy because she did a genetic
Last but not least, our interlocutors have highlighted
test, which showed that she had a high probability to
uncertainties and challenges around the integration of
develop breast cancer.” (P10)
genomic medicine in primary care. Of those, the need
Despite the perceived benefits on a therapeutic level, GPs for research and further education to adapt to the change
insisted that the emphasis of patient care should remain and manage possibly high demands, has emerged:
on clinical assessment.
“It would be necessary for doctors to be trained to
“I would still tend to say: “let’s do a physical exam know how to communicate the information effi-
(e.g. a cardiac exam) to have a baseline”. Then, I ciently and appropriately, and also to manage the
would advise my patients to have a follow-up a cou- stress that it (genetic information) can generate for
ple of years later in case. Even if the genetic risk pro- the patient [ …]. ” (M1)
file is negative.” (M3)
Furthermore, they expressed the necessity of regulatory
As a consequence of PM, a few doctors believe they measures facing innovation, even if this does not seem
would be relying more on standardised algorithms in easy.
patient management, thereby assuming a reductionist
“So, I am for PM to be state regulated [ … ] I support
approach that could potentially alter interpersonal rela-
freedom of choice, but while keeping solidarity and
tionships. One patient expressed similar opinions and
community spirit in mind. There are many issues
compared genomics to “fast food” medicine.
with the present society, which is one with selfish
“Because we rely on many standards and values people, one that is increasingly focused on personal
such as, I don’t know, laboratory values, imaging gain.” (M8)
tests, or other. And patients are also very … I want
to say a little too dependent on these lab results, “The problem is that there are two components of
scan report. And when we are too absorbed in some- the law, there’s justice and justness. And in between,
thing, we lose the overall picture. So, I believe that it there’s all the issues concerning humans, lobbies,
will somehow put a screen between doctors and the influences and ignorance.” (P5)
patient.” (M1)

“I think the relationship between doctor and patient Discussion

is multi-layered, so to say. There’s also social com- Our study highlights that personalised medicine is a
munication, which is as important, if not more well-established concept in medical literature but it
[important], than medications. So, if you remove bears an entirely different meaning in primary care.
this layer and respond with “fast food” that is based From our results, it outlines a more integrative or holistic
on algorithms, this social role disappears. And from approach. In other terms, participants have largely con-
my experience on life and human relationships, fused PM with person-centred medicine or even integra-
without this, medicine would lose much of its useful- tive medicine.
ness.” (P5) In primary care, the key point is to devote support
Many dread the advent of interpersonal barriers from the and time to the patients for the shared decision-making
implementation of PM in clinical practice. process. For the few participants who understood that
we were talking about medicine open to innovation, it
“I think that our society will go a little adrift with all was also important not to forget the doctor-patient rela-
this. In my opinion, we lose our true bearings and tionship by promoting a reductionist vision. Innovation
what’s important in life, relationships between peo- could only be introduced through research, training and
ple, empathy, fondness, affection and happiness. … I regulation.
find that people are already quite self-absorbed and The therapeutic relationship between carer and patient
all about keeping focus on oneself, and I find this has evolved over the years, from the paternalistic model
quite deleterious.” (M4) towards patient autonomy. One of the fundamental
With the right tools at hand, some GPs will be willing to characteristics of family medicine, as defined by the
implement PM in family medicine. WONCA, the academic association for general practice,
is to develop a person-centred approach [34]. The idea
“It’s inevitable. Because techniques move forward, so that a person is more comprehensive than a patient finds
we cannot go against the change. I think we should its roots in the tradition of general medicine [35]. El-Alti

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Boyer et al. BMC Primary Care (2022) 23:37 Page 6 of 8

et al. have previously stated that person-centred care and Collaborating with an anthropologist also led us to
PM can share some similarities, in that both seek to shift adopt an emic (interviewee’s point of view) rather than
from the “standardised, one treatment fits all” model [21]. an etic (researcher’s point of view) approach.
They outlined person-centred medicine as an approach The purposive sampling of this study could be disputed
that is holistic, non-reductionist and deriving from a car- as participating GPs chose the patients, based solely on
ing perspective, where the carer and the patient shares a criteria of the same age and sex. None of the research-
relationship based on individuality and sharing [21]. Vogt ers were involved in the recruitment of patients. Partici-
et al., who attempted to find the link between integrative pating GPs have often admitted that patient recruitment
concept of biopsychosocial medicine and systems biology, for such a topic was no easy task. So, it is possible that
concluded that the latter concept could not be viewed as the selection of patients was conditioned by some prior
person-centred in a humanistic model of medicine [36]. knowledge or interest. It is indeed difficult in such
A primary cause for misinterpretation probably lies in research to start from knowledge devoid of any back-
the choice of the label “personalised” to define a technol- ground information. Another limitation is the sample
ogy that is derived from genomics. It could be speculated size, although small, was large enough so that no new
that renaming this technology with a more precise term salient themes emerged after coding all twenty inter-
could be less ambiguous. It should be noted that there is views. Therefore, it could be argued that the data are not
a non-exhaustive list of terms that have been used inter- necessarily generalizable to all GPs and users in family
changeably in literature over the years, including preci- medicine. We must remember that this qualitative study
sion medicine, genomic medicine, stratified medicine was the preliminary part of a bigger one.
and individualized healthcare [37]. Besides terminologi- All participants were interviewed on a voluntary basis
cal ambiguity, the lack of consistency in its definition and and were all given an information sheet, briefly explain-
the scope of the concept have also been largely disputed ing the study. Both groups were informed that personal-
in literature [14, 20, 37]. ised medicine involved genetic risk profiling. However,
Schleidgen et  al. proposed a more precise definition details such as the aim and methodology of the study
of personalised medicine in their paper, in an attempt were additionally given to GPs. Although GPs had a more
to help clarify the conceptual differences between stake- in-depth overview of the study, interviews were con-
holders concerned with PM [14]. According to the ducted with the same open-ended question and were led
authors, a shared understanding of the concept could as an open discussion.
facilitate the discourse on the nature, the risks and the
limits of PM [14]. However, De Grandis and Halgunset Conclusion
largely scrutinized their work and believed that scientists The present study emphasises the need to reach consen-
should remain open to the vagueness of the concept of sus on the definition of personalised medicine, while tak-
PM, as it is still an “ideal” with varying views and visions ing in consideration all key stakeholders’ objectives and
from different stakeholders [37]. Other terminologi- interest. A prerequisite to the implementation of genetic
cal confusions encountered in general medicine is the medicine in family practice is to understand the different
notion of P4 medicine, which is defined as predictive, points of view and to take into account the different lan-
preventive, personalised and participatory care [38] and guages: molecular biology and socio-cultural ones [41].
the concept of quaternary prevention, concerned by the In order to avoid any terminological ambiguity, we
risk of over-medicalisation, that has also been named P4 believe that “Genomic medicine” would be an appropri-
in general practice [39]. This confusion is quite troubling, ate term, considering the necessity of using genetic mate-
given the remarks in published literature on the risk of rial to exploit this technology. However, according to
over-medicalisation from the advent of new technologies, Jaccard et al., “precision medicine” would be more fitting
particularly of personalised medicine [40]. to limit the widespread opinions amongst GPs that medi-
cal care is already “personalised” [42]. Precision medicine
Strengths and limitations also includes big data and connected devices in addition
The main strength of this study is the inclusion of the per- to genomics: a concept that does not seem as clear to
spective of both patients and GPs, giving a global represen- patients.
tation of family medicine in both rural and urban regions In this study, GPs would clearly have the pivoting role
of the French-speaking part of Switzerland. Furthermore, in interpreting genetic information for the patients in a
the team involved in this study is multi-disciplinary, with shared-decision process. Hence, doctors stressed the
GPs, a public health doctor, a geneticist and an anthro- need for further research, training and education, includ-
pologist. This ensured that the topics covered in the inter- ing guidance in the interpretation of genetic risk profiles,
views involved the issues considered by key stakeholders. so as to limit the risks of over-medicalisation [41].

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 Boyer et al. BMC Primary Care (2022) 23:37 Page 7 of 8

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1
 Department of Family Medicine, Centre for Primary Care and Public Health see-​et-​preve​ntion-​des-​malad​ies-​chron​iques-​besoi​ns-​perce​ptions-​et-​
(Unisanté), Lausanne, Switzerland. 2 General Practitioner in private practice, atten​tes-​des-​patie​nts-​et-​des-​medec​ins-​gener​alist​es. Accessed on 15
Lausanne, Switzerland. 3 Centre for Integrative Genomics, National Centre March 2021.
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Lausanne, Switzerland. 4 Department of Community Medicine, Primary Care to Swiss private medical insurances? Public Health Genomics.
and Emergency Medicine, Geneva University Hospitals, Geneva, Switzerland. 2016;19(5):251–9.
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 Institute of Social Sciences, Faculty of Social and Political Sciences, University 25. Vayena E, Gourna E, Streuli J, Hafen E, Prainsack B. Experiences of early
of Lausanne, Lausanne, Switzerland. users of direct-to-consumer genomics in Switzerland: an exploratory
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