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Building Biosociality through
Visualizations of Genome-Wide
Sequencing Risk for an Online
Patient Decision-Making Aid
()
Adam Christianson, Ariane Hanemaayer, Sophia
Martineck, Alexandra Hamann, Jan M. Friedman, and
Alison Elliott
Our chapter contributes to the visualization of disease by focusing on
genome-wide sequencing () and risk. We examine how risk is
communicated to patients using decision-making aids in genetic
counseling. Following a sociological analysis of an existing aid, we
worked collaboratively with a science communicator and an illustrator
to revisualize an affective and connected experience that could be
translated to prospective patients through a decision-making aid.
Personal decision-making aids (s) are often designed to inform
patients about procedures, which can assist with their informed
consent for testing and treatment options. s are meant to improve
patient knowledge and to allow people to use this knowledge
alongside their values and preferences to make a choice that feels
right for them. We contend that these visual aids play an important
role in providing not only information but also the potential to address
the affective elements of decision-making. In so doing, our is
informed by the biosocial premise that connection is beneficial to
patients and families. Our presents the patient with an illustrated
(graphic-medicine-style) comic that demonstrates the
interconnectedness of someone undergoing genetic testing with all
the relationships, actual and potential, throughout the diagnostic
odyssey.
1
To do so, we focus on the affective dimensions of visualizations of
risk related to genome-wide sequencing with the case study from a
decision-making aid developed by two of the authors (Friedman and
Elliott) and their colleagues (see Birch et al. 2016). Their research
tool is used in a children’s hospital in British Columbia, and it informs
the work of a team of geneticists and genetic counselors as well as
the patients and families that they treat there. Over the last decade,
the tool has been tested for effectiveness in practice. Our team took
a patient-reported result about low empowerment as an opening and
opportunity to re-illustrate some of the information around risks and
benefits in the online decision aid. The process of analyzing,
redesigning, and illustrating a new aid was not only interdisciplinary
but also inter-sectoral. The process involved a great deal of dialogue
across disciplinary and professional boundaries, which included
productive disagreements, confusion, reinterpretation, development of
a common language, consolidation, and compromise to reach the
state of the presented here.
To spell out the process, we first introduce and our case
study of a patient decision-making aid. Next, we analyze how risk is
visualized in the tool. Then, we draw on the sociological concept of
biosociality to rethink how patients might feel empowered and
connected through the knowledge that could be gained from genetic
testing. The analysis informed a collaboration among clinicians,
sociologists, scientific communication specialists, and illustrators. To
visualize the interconnectedness of patients and families with medical
specialists, we draw on the concept of biosociality. This concept aims
to empower through affective connection and offers alternative ways
of informing patients about the potential of genetic testing. We focus
on biosociality, as it aims to connect people through feelings of hope.
We conclude the chapter by discussing our process, potential
limitations, and future directions.
Genome-Wide Sequencing and Risk
Patients with rare genetic diseases often experience a lengthy
journey to diagnosis. Commonly called a diagnostic odyssey in the
clinical literature, this journey begins when patients or parents of
underage patients identify a serious, unexplained sign, symptom, or
group of clinical features that do not resolve quickly. The search for a
diagnosis becomes an odyssey when conventional clinical knowledge,
measures, and tests are not effective, and physicians turn to
specialized molecular knowledge that can delve into the deep interiors
of the body’s submicroscopic processes to arrive at a diagnosis. As
patients and their families search for a diagnosis, they embark on
what often amounts to a multiyear gamut of consultations and tests
(Carmichael et al. 2015). This process has quality-of-life implications
for the patient and can be costly and time-consuming for clinics and
health systems.
New advances in genome sequencing offer patients and families a
realistic option for ending the diagnostic odyssey. Genome-wide
sequencing () is a process by which the patient’s whole genome
(genetic code) is analyzed concurrently, often alongside the genomes
of other family members. has the potential to shorten a
diagnostic odyssey and is sensitive enough that an analyst can
identify single-nucleotide variants across six billion nucleotides in the
human genome. It is, therefore, a powerful tool for identifying
pathogenic variants (genetic changes that result in disease) that might
be missed by analyzing genes one at a time. New technologies make
increasingly affordable (Sawyer et al. 2016; Wetterstrand 2022)
and, in some instances, even cost-saving in the long term (Regier et
al. 2024). For these reasons, is becoming a routine diagnostic
option for patients and families who are suspected of having a
genetic disease.
In addition to improving the treatment or management of a
disease, there are additional reasons that patients and families might
elect to undergo . Clinicians on our team observed that
results can assist with family planning, including both guiding future
reproductive options and providing patients and families with a
greater understanding of their condition, thus improving their quality of
life through knowledge and access to societal resources they may
need (Lingen et al. 2016; Makela et al. 2009). While may be a
cost-efficient way to end a patient’s diagnostic journey, clinicians are
dedicated to the idea that patients and families should carefully
consider the risks and meanings associated with undertaking the test
and receiving the results. While genetic testing is minimally invasive
and comes at minimal physical risk to the patient, the consequences
of undergoing genetic testing can be significant.
Further to ending the diagnostic odyssey, our team wanted to
illustrate additional benefits to undertaking . For example, the
2
counseling process associated with often helps people connect
to others with similar conditions, and they are often connected to
supports they would not have accessed otherwise, such as access to
early childhood programs, developmental evaluation, or educational
assistants at school. People also commonly express pride in how
their genetic information forwards science (Birch et al. 2016). In our
collaborative process, we focused on this experience of connection,
which builds upon the literature on biosociality.
Diagnosing genetic conditions could also have negative outcomes.
There are social, financial, medical, and psychological risks
associated with undergoing . For example, obtaining a diagnosis
can have a psychological impact on the patient and family, especially
if the condition found is incurable. Discovering a heritable gene could
also affect the insurability of the patient’s extended family, depending
on the legal context where testing is completed. Further, learning and
communicating a genetic condition has connotations that touch on the
morals implicit in a person’s reproductive choices, such as the
valuation of (dis)ability (i.e., ableism), and the practical impacts of
discrimination a person or family may experience. However,
diagnoses are often elusive, even with . About 35 to 50 percent
of patients undergoing can expect to receive a diagnosis. Those
who do not receive a diagnosis may drop out of care or may
mistakenly be advised or conclude their condition is not genetic, which
may have dire consequences for the patient and their family. In these
cases, the diagnostic odyssey may continue. Because
examines more than 20,000 genes, it is also possible that testing will
identify genetic variants that have nothing to do with the problems that
led to the testing but still have serious implications. These genetic
variants, known as incidental findings (), may indicate susceptibility
to additional illnesses (e.g., cancer), with similar implications for the
extended family. Moreover, patients risk uncovering variants of
unknown significance (), which may add further uncertainty. Both
and can extend and complicate a patient’s diagnostic odyssey
in unexpected ways.
Our team did not always agree about what is a negative outcome
or possible risk to . For example, the clinicians understood
insurability as a major risk for some patients, whereas ending the
odyssey was seen as a benefit. The sociologists, alternatively,
believed that the possibility of not getting answers (a diagnosis) could
3
be seen as a risk associated with getting the results of , but,
similarly, knowledge of could also be distressing because of the
uncertainty involved. Where the team did agree was on the
importance of recognizing all these possible feelings through our
illustrated graphics and maintaining the emphasis on connection in the
final comic. We now turn to a discussion of the that our project
extends and adds to.
DECIDE
Due in part to the high demand for genetic counselors, researchers in
British Columbia (and elsewhere) identified the need for a computer-
based tool to facilitate and optimize genetic counseling for (e.g.,
Birch 2015). (Decision & E-Counseling for Inherited Disorder
Evaluation), our case study, was developed by a team of researchers
at the University of British Columbia between 2014 and 2019.
aims to “guide adult patients or parents of affected children toward a
decision about whether or not to have diagnostic ” (Adam et al.
2019, 11). It accomplishes this by providing video and textual
information as well as illustrations about genetic testing and the
benefits and risks associated with . Patients are provided with a
private invitation link to complete this virtual tool on their own time
before meeting with a physician or genetic counselor, at which point
the patient can have an informed discussion. The tool introduces
patients to the possibility of consenting to the test and whether they
also want to be informed about incidental genetic findings and
(Adam et al. 2019, 11).
is a computerized patient decision aid (). A is an
evidence-based approach to risk communication in which
probabilities, treatment outcomes, and options are presented in a
patient-friendly manner (Charles et al. 2005). Conventionally,
decision-making aids present pictographic representations of
probabilities alongside text to improve health numeracy and
knowledge (Peters et al. 2007). Interactives frequently accompany
these representations to help the patient weigh their values,
preferences, and goals for health. s are useful in contexts where
individual patients face multiple or complex decisions that are
challenging for clinicians to resolve based on clinical experience or
knowledge alone (Montori et al. 2015). s aim to enhance shared
decision-making, making them an appealing complement to
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