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A framework for tiered informed consent for health genomic research in Africa

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Abstract

A generic framework for providing participant information and implementing a tiered consent process for health genomic research in Africa can help to harness global health benefits from sharing and meta-analysis of African genomic data while simultaneously respecting and upholding the autonomy and individual choices of African research participants.
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A framework for tiered informed consent for
health genomic research in Africa
A generic framework for providing participant information and implementing a tiered consent process for health
genomic research in Africa can help to harness global health benefits from sharing and meta-analysis of African
genomic data while simultaneously respecting and upholding the autonomy and individual choices of African
research participants.
Victoria Nembaware, Katherine Johnston, Alpha A. Diallo, Maritha J. Kotze, Alice Matimba,
Keymanthri Moodley, Godfrey B. Tangwa, Rispah Torrorey-Sawe and Nicki Tin
African human genome research is
advancing rapidly, owing to falling
sequencing costs and international
interest in African genomic data: the
diversity of African genomes can provide
novel insights into biological and etiological
mechanisms, thereby promoting diagnostic,
prognostic and therapeutic advances for
populations in Africa and the rest of the
world1,2. Conducting genomic research in
Africa can be logistically challenging3,4,
but equally challenging is recruiting
African participants—many of whom
have knowledge- and/or poverty-related
vulnerabilities5,6—while ensuring that they
are properly informed and truly consenting,
and that they retain their autonomy and
agency (examples in refs. 5,712).
Dynamic consent models, such as
those using ongoing engagement through
online media13,14, ensure autonomy and
choice for participants. However, these
models cannot be implemented in many
African environments, owing to suboptimal
internet and smartphone access, and poor
digital literacy. In broad-consent models,
participants consent to all future use of their
samples under the oversight of an access
committee, but this consent comes at the cost
of the autonomy and individual preferences
of participants10,15. Tiered informed consent
addresses these challenges by providing
detailed information about the intended
specimen/data use and storage, thus enabling
participants to individually select a level
of specimen and/or data sharing through
responses to specific questions10,1618.
The launch of the H3Africa genotyping
chip, with 2.7 million African-specific
genomic variants19, has increased
opportunities for meta-analyses combining
multiple cohorts of African participants.
To undertake such studies with an ethical
mandate, research participants must
be properly informed, and their data/
sample-use preferences must be accurately
understood, faithfully recorded and
implemented with integrity. We propose a
framework for undertaking ethically sound,
tiered-informed-consent processes in Africa,
which provides a comprehensive guide on
compiling participant information and an
informed-consent template for capturing
each participant’s consent information and
mapping it to data-use ontologies.
Methods
The framework is derived from the authors’
combined experiences with informed
consent in Africa. A generic template for
participant information (Supplementary
Note) is provided, and validated translation
into the participants’ primary language(s) is
recommended. Framework tenets include
ease of understanding for field-workers and
participants, and practical administration in
a busy facility (such as clinics). We describe
the core components of tiered consent for
competent adult participants, although not
all elements may be appropriate for every
study. We provide recommendations for data
capture and standardization of participant
consent information.
What information should be provided
in the informed-consent documents?
Ethical research requires balancing benefits
and risks at the micro level for individuals,
the meso level for communities and the
macro level for populations. Although
ethics review boards consider all levels in
assessing a research study, an individuals
right to decline or accept participation
remains paramount, and participants must
be provided with necessary and sufficient
information to support this right. We
present core concepts and highlight how
localized knowledge can be incorporated in
providing information to participants.
Information about genetics. African
colloquialisms often speak to an inherent
understanding of heredity. For example,
the Shona proverb “Mhembwe rudzi
inozvara mwana ane kazhumu” translates
to “The child of a duiker [small antelope]
is a duiker,” and its equivalent in English
is “Like father, like son.” Such local
expressions can be harnessed in explaining
heredity and genetic concepts by using
anecdotally accessible, emotionally neutral
examples such as height or facial similarity.
Caucasian-centric examples, such as eye
or hair color, are often inappropriate for
African participants.
Information about genetics and health
can be related to locally prevalent health
conditions, while always providing clarity
about complex risk factors to prevent
misunderstanding, anxiety or family
conflict—for example, an explanation that
genetic factors might influence susceptibility
to malaria, but environmental factors are the
chief drivers of becoming infected.
The focus of the study, and who is doing
the research. Clear, simple language
and local names for health conditions
can simplify explanation of the research
question. For example, “We want to
understand whether genes affect how likely
someone is to get sick from bilharzia
is more accessible than “The primary
study objective is to elucidate the genetic
etiology of schistosomiasis” for an African
population exposed to schistosomes.
However, information accuracy supports
transparency, and researchers should not
confuse straightforward language with
incomplete information. During recruitment
of controls, researchers can explain that
comparing samples from people with and
without an illness can help understand
what contributes to getting the illness. Local
researchers and institutions should always
be named as the primary contact, to ensure
that they are familiar, un-intimidating,
identifiable and contactable for participants.
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What will you be asked to provide or do
in this study?. A brief, simple explanation
of exactly what will be requested in terms
of visits, data and sample collection, and
common-use estimates of collection
volumes can inform participants about the
collection of blood or saliva. For example,
referring to “about two teaspoons” of blood
is more readily understood by participants
than “10 ml.
What are the potential risks and benefits
of this study?. There are often no direct
benefits to participants in genome research;
in such cases, the lack of benefits should
be honestly stated. However, researchers
should also recognize and respect that
African participants may also value altruistic
behavior and contributing to the well-being
of others or the advancement of science,
regardless of their circumstances20,21.
Research studies may be misunderstood by
participants as an offer of additional health
care or an opportunity for cure, and if such
benefits will not be provided, this must be
explicitly stated.
Communicating risks is complicated
by the unknowable nature of future risks
associated with genomic data: the rapidly
evolving landscape makes cataloging future
possible uses impossible. Existing risks
include re-identification of individuals and
exposure of personal health information in
the event of data breach or inappropriate
data reuse2224, as well as stigmatization
of families, communities or ancestral
groups. Another risk to be communicated
to participants is discovery of information
about the participant’s health or information
that might negatively affect family members
or local community members who did not
necessarily consent to the study. Describing
the risks alongside clear, practical plans for
risk mitigation can reassure participants that
risks have been appropriately identified and
planned for.
Remuneration for costs incurred by study
participation, or refreshments provided,
should be detailed separately to avoid
confusion with ‘study benefits’.
Privacy protection, and data- and
specimen-protection protocols. The
processes and infrastructure in place to
protect data and specimens should be briefly
outlined to assure participants that privacy
protection is in place. Sample storage
locations and security measures should
be detailed—including the geographical
locations of storage and use, what data
will be generated from the samples, and
how and by whom those data will be used
further. Information can be provided
about the committees that will oversee
access and the plans for sharing aggregated
or group-level data with collaborators,
scientific journals, international
collaborators or online platforms.
Return of results. General study findings
can be communicated to participants in
a context-appropriate process involving
posters and pamphlets distributed in
recruitment facilities, cell-phone messaging
or website updates. Community meetings
with the researchers to provide feedback on
findings should occur only if participant
confidentiality can be protected, especially
for studies on sensitive health issues. The
return of findings from genome-related
research requires approval by a research
ethics committee and medical specialists
who can determine whether the findings
(primary or incidental) meet criteria for
return to individual participants and are
actionable. The consent process should
support the participants’ right not to know
certain results, whether actionable or not
actionable, within their current context.
Furthermore, the process of disclosing
research results should involve professionals
with the appropriate expertise, and a
summary of this planned process should be
communicated to participants.
For the initial study for which
participants are recruited, participant
information should detail whether
individual results will be made available; if
so, the process for returning results should
be clearly communicated. For example,
participant information might state that
no results will be returned to individuals
because the findings will not be sufficient to
provide accurate health-related information;
that a doctor will provide results during a
clinical consultation with the participant; or
that an individual report will be provided by
appropriately registered medical scientists.
This section must also inform participants of
what action will be taken if a communicable
disease is identified, including how the
participant will be informed, plans for
linkage to care and the process for infectious
diseases that must legally be reported to a
central/national registry.
Information should describe how study
findings will be shared with the participant
community, for example through a project
website (with provided URLs) and/or
newsletters by e-mail or hard copy. The
intended publication of results within the
research sector can also be described.
Who can be contacted with questions or
concerns, and how to withdraw consent.
Names and contact information must
be provided for participant questions or
concerns. In addition, contact details for
an oversight body independent of the study
researchers, such as an ethics review board,
which can address concerns impartially,
should be provided. Clear instructions on
an easy process to withdraw from the study
must be provided, with reassurance that
withdrawal will not affect access to standard
health care if recruitment takes place in a
health facility.
Questions to be asked for each
component of the tiered consent
We propose a series of questions that each
define a tier of the consent process. The
first question defines inclusion in the initial
study, and a response of ‘yes’ is required to
proceed. The questions that then follow are
designed to be freestanding, and each can be
independently agreed to or declined, so that
participants define a particular combination
of data/biospecimen uses with which they
feel comfortable.
Question 1: Agreement for collection of
data/biospecimens for the primary study.
“Do you agree for us to collect this saliva/
blood sample and your health information
for this study that we have described on
how genes might affect [specific health
phenotype]?”
This question defines consent to
participate in the current (primary) study
for which participants are being recruited.
Often in health research, primary studies
examine a specific disease, for example,
tuberculosis or hypertension.
Question 2: Agreement for secondary
data/biospecimen use for other studies on
the same phenotype/health condition. “Do
you agree for us to use your genetic sample
together with your health information in
other studies in the future on the effects of
genes on [specific health phenotype]?”
This question provides an opportunity
for individuals to contribute to furthering
research on a specific disease that they
might feel particularly strongly about
because of their personal experience,
without committing to general research use
in other types of health research.
Question 3: Agreement for general
secondary data/biospecimen use in other
unrelated studies. “Do you agree for us to
use your genetic sample together with your
health information for other studies in the
future to study the effects of genes on other
conditions or biological processes?”
This option enables general re-use of data
and samples in future studies that are not yet
defined or known, while providing the option
for those who are not comfortable with wider
re-use of their data/sample to clearly define
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a boundary of health or biological function
research for secondary use.
Question 4: Agreement for inclusion in
aggregated data (for example, genome
summary data) for the study. “Sometimes
researchers combine the genetic information
from everyone in the study and provide
a summary of genetic data for the whole
group. Do you agree for us to use your
information when providing combined
information about the whole research group
(x total individuals in this study)?”
A recent policy change by the US
National Institutes of Health25 about open
sharing of genomic summary data from
studies has prompted this consideration.
The risk of stigmatization or of
discrimination against ancestral groups
is substantial in Africa, where the genetic
distance between subgroups can be
large, and communities can be small and
easily identified. Both historically and
recently, the term ‘ethnicity’ has been a
sensitive or volatile identifier. We believe,
therefore, that consent should be obtained
before individuals’ data are released
within an aggregate dataset. Providing
the total number of participants can give
an indication of the likelihood of being
re-identified.
Question 5: Agreement for re-contact for
follow-on studies. “Sometimes, what we
find from a study like this might lead to
new studies being done in the future.
Can other researchers contact you in the
future to invite you to take part in other
research studies?”
Re-contact of individuals can be
difficult, owing to the high geographic
mobility of some African populations,
shared or transitory cell-phone ownership,
informal residential addresses and limited
modes of contact. Re-contact outside
the consented study violates the
privacy of participants and constitutes
inappropriate or even illegal secondary
use of personal information unless consent
has been specifically given for such
re-contact. However, some individuals
may agree to be contacted about other
studies, particularly to facilitate access to
specialist health care.
Question 6: Agreement for return of
defined genetic findings from the current
study. “In this study, we hope to identify
genetic factors that mean that someone is
more likely to [have an outcome, such as
susceptibility to a disease]. If someone has
this genetic factor, there is [no treatment/we
recommend treatment x]. If we find during
this study that you have this kind of genetic
factor, would you like us to tell you this
information?”
When genomic studies investigate specific
genetic factors affecting health, consent for
return of results is easier to delineate. For non-
African settings, recommendations suggest
that participants be asked whether they wish
to receive clearly identified, actionable and/
or non-actionable genetic findings from the
study26. The practical implications, including
treatment recommendations, can be defined
in advance for the participants, who can use
contextualized information and personal
preferences to decide which results they wish
to receive. Challenges arise around limited
health care access and whether participants
can access or afford a recommended
intervention. Researchers and ethics review
boards must address these questions
within the study context to maximize
benefits through diagnostic and therapeutic
information while minimizing emotional
and societal harm in cases in which such
information cannot improve health outcomes.
Question 7: Agreement for return of
unanticipated genetic findings from future
studies. “Sometimes what we find from our
research might include new information
about your health. Would you like us to
contact you again if we believe we have
new information that may directly affect
your health—if there is some kind of
action or treatment that might be able to
help you with the health issue (yes/no) and
if there is no kind of action or treatment that
might be able to help you with the health
issue (yes/no)?”
Implications for returning results become
more nuanced and difficult to communicate
for secondary use of data/biospecimens,
because the nature of future genetic or
health findings is currently unknown. We
propose that a distinction should be made
between actionable and non-actionable
results, to accommodate individuals
who prefer to know nothing about their
etiological genetic background; those
who wish to know only information with
available interventions; or those who wish
to know all genetic components to their
health, both actionable or unactionable.
The principal investigators, data-access
committee and ethics review board must
ensure that secondary-analysis protocols
include plans for the return of results
and assessments of appropriate available
interventions in a consultative, informed
and supported manner.
How to store informed-consent choices
Common practice in Africa is to capture
participant consent in hard copy, without
sharing the consent with secondary users.
Digitalization of informed consent usually
consists of an e-consent signature or scanned
copy of the signed consent form in a non-
machine-readable format. These practices
do not support tiered consent, which
captures multiple accessible, query-able and
actionable choices for individuals. Consent
interpretation and automated selection of
data/samples for secondary use can also
be challenging, owing to unstandardized
and heterogeneous consent questions;
moreover, different consent standards
between fields, such as clinical and genomic
research, also limit cross-disciplinary data
sharing27. Ontologies such as the Informed
Consent Ontology (ICO)28 and Data Usage
Ontology (DUO)27,29 provide standardized
terminology and systems to semantically
label samples and data with their usage
restrictions: ICO captures the process
of obtaining informed consent, whereas
DUO describes consent and governance
categories, coding 19 primary and secondary
data-use cases. Tools, templates and software
can assist with practical implementation
of DUO30 and capture metadata of consent
information, restrictions and requirements
for a study, but they do not capture
individual consent choices30. DUO27 lacks
some key consent codes for return of
actionable and nonactionable, anticipated
and unanticipated findings, aggregated data
use and consent for participant re-contact
after the study. However, consent ontologies
and coding are likely to evolve to meet such
requirements.
Simple, low-cost, systematic strategies
are needed to capture, store, share and
take action on individuals’ tiered consent
choices through commonly used platforms
(for example REDCap31). Each informed-
consent question requires binary response
options as checkbox items; the case-report
form should be versioned; and any consent
changes should be exported to relevant
laboratories, biobanks, data repositories or
data analysts for action to be taken if sample
destruction or data deletion is required. An
example of data-use consent information
and corresponding DUO codes for a sickle-
cell disease genetic study is shown in Box 1.
Each tier of consent is coded as a binary
variable (yes/no, 0/1), with the date of
consent. When individuals modify their
consent information, a database structure
can allow for the addition of new consent
data with a combined, unique date-
study ID key. A ‘current’ flag facilitates
identification of most recent consent data
(Table 1). The binary matrix design enables
simple, intuitive data capture of consent
information, and combinations of binary
values are subsequently mapped to consent
codes from DUO or other ontologies as they
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become available or are updated. Future
work to improve data-capture fidelity may
include image processing to automatically
capture and code responses from signed
consent documents. A consent ‘metadata
record can also describe the type of
informed-consent questions asked during
that study.
Discussion
This framework is a practical guide for
preparing informed-consent documents
for consultation with people considering
participation in a genetic or genomic
research study, assuming that informational
tools including pamphlets, videos and flip
charts are also used, and a community-
engagement process precedes and continues
during the study. Although beyond the
scope of this publication, community
engagement before human genomic research
in Africa is paramount15,32.
Individual informed consent addresses
the micro level; however, at the meso
and macro levels, families, communities,
religious groups, ancestral groups and
populations are all affected by genomic
data from individuals32,33, particularly
in Africa, where populations are highly
diverse and often genetically unique
and re-identifiable, and ancestry-based
perceptions have previously fueled life-
threatening discord. Consent processes
must by necessity be situated in this
broader context34. Sufficient time should be
given between providing information
to potential participants and the enrolment
visit, to respect family and communal
decision-making; in addition, providing
a recap of consent options in multiple visits
is advisable.
While compiling the framework, we
identified issues requiring further exploration
regarding the recommendations for
implementation of tiered informed consent
in Africa. These include the following.
Return of results. Incidental or unforeseen
results from secondary data analysis
are challenging to address during tiered
informed consent and must be considered
within the context of each study. This
area has a high risk of unforeseeable
harm to participants, families and
communities, and ongoing research into
the return of results and how to define
‘actionable results’ in Africa and low- and
middle-income countries (LMICs) in
general is essential.
Informed consent during times of crisis.
The recent Ebola crisis in West Africa
highlighted issues in using biological
samples toward the common good and
in informed-consent processes in times
of crisis3537. We must explore waiver of
informed consent in times of crisis in which
minimum use of samples/data for public
good might override individual rights, or
individuals might be too ill to consent:
within the tiered-consent model, levels of
consent that might be acceptably waived and
those that should remain non-negotiable
may be identified.
Consent for vulnerable populations. We
reiterate that these consent guidelines are
intended for competent and autonomous
adult participants. Particularly in LMICs
and in Africa, many participants may be
vulnerable, including those with limited
access to health care and socioeconomic
resources, children and adolescents,
disenfranchised women, persecuted
ancestral groups and people marginalized
or criminalized because of their sexual
orientation and/or gender identity. For
studies involving potentially vulnerable
participants, we recommend that specialist
advice be sought to ensure an appropriate
informed-consent process.
Intended commercialization of study
findings. Intended commercialization of
findings provides a special case for consent,
and benefit-sharing agreements with
participants require research to address
the potential for coercion or inducement
into participation with promise of financial
rewards, community consultation around
appropriate avenues to return benefits, and
social constructs and community pressure to
participate that might arise from promises
of community-level benefits with sufficient
participation rates.
Legislative constraints for consent
processes. Protection of participant data
and confidentiality is increasingly protected
by new legislation, and consent processes
must comply with national laws and
regulations. In South Africa, for example,
the Protection of Personal Information Act
may affect whether broad consent can be
legally obtained from participants. Local
legal advice is essential to ensuring that local
legislation is respected.
Consent to studies of population
origins. We have intentionally omitted
secondary-use consent for studies of
ancestry or population origins in this
framework, because of the complexity of
risks and future-use cases for such research.
Recruiting health-research participants
entails approaching ill people who may have
personal motivations to participate in health
research. We propose that population-
diversity genome-research consent should
be addressed separately to avoid a ‘bait-
and-switch’ approach in which vulnerable
participants consent to health research but
provide consent to population-diversity
research as a secondary mechanism without
necessarily understanding the full risks or
implications of such research.
We present this framework as a starting
point for implementing tiered informed
consent in Africa, providing a generic
Box 1 | Illustration of the coding of tiered-consent forms for two participants being
recruited into a sickle-cell disease genetic study
Participant 1
1.1. Do you agree for us to use your
genetic sample together with your health
information for this study on the eects
of genes on sickle-cell disease?
Answer: Yes
1.2. Do you agree for us to use your
genetic sample together with your health
information for other studies in the future
on the eects of genes on sickle-cell
disease? Answer: Yes
1.3. Do you agree for us to use your
genetic sample together with your health
information for other studies in the
future to study the eects of genes on
other conditions or biological processes?
Answer: No
DUO requirements/restriction
description: Disease-specic research and
clinical care
DUO requirement code: DS-(XX)(CC)
Participant 2
1.1. Do you agree for us to use your
genetic sample together with your health
information for this study on the eects of
genes on sickle-cell disease? Answer: Yes
1.2: Do you agree for us to use your
genetic sample together with your health
information for other studies in the future
on the eects of genes on sickle-cell
disease? Answer: Yes
1.3: Do you agree for us to use your
genetic sample together with your health
information for other studies in the
future to study the eects of genes on
other conditions or biological processes?
Answer: Yes
DUO requirements/restriction description:
Use of the data limited to health/medical/
biomedical research but not population
origin/ancestry
DUO requirement code: HMB(CC)
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Table 1 | Example of data coding and capture for tiered-consent questions, with retrospective mapping to DUO
Captured and stored binary variables from the informed-consent process, showing capture of response to each tier Retrospective mapping to
current ontologies; can be
re-mapped as ontologies are
updated or replacedc
Study
ID Date of
consent Version
consent
document
Is
current Use for
primary
study of
health
condition
Use for
other
studies
on this
condition
Use for
other
studies on
health or
general
biology
Use of
aggregate
data for
entire study
Re-
contact
for future
studies
Return of
specific,
described
genetic
results from
primary
study
Return of
undefined,
actionable
results from
other studies
Return of
undefined,
non-
actionable
results from
other studies
DUO consent
description DUO code
ID_1 2010-10-20 1 1 0 NA NA NA NA NA NA NA No consent
given
ID_2 2010-10-20 1 0 1 1 0 0a1 1 1 1 Use of data
must be related
to [disease]
DS-[XX](CC)
ID_2b2010-10-25 1 1 1 0 0 0 0 1 0 0 Use of data
is limited to
use within
an approved
project
PS
ID_3 2010-10-20 1 1 1 1 0 1 1 1 1 1 Use of data
must be related
to [disease]
DS-[XX](CC)
ID_4 2010-10-20 1 1 1 1 1 1 0 1 1 0 Use of data
is limited to
health/medical/
biomedical
research but
not population
origin/ancestry
HMB(CC)
a Currently, aggregate data use, re-contact and return of results are not coded in DUO. b Shows change in consent for individual ID_2 and use of the ‘current’ 0/1 flag. c Fields are retrospectively mapped to DUO by using stored variables and can be updated. NA,
not applicable.
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example of participant information and
tiered-consent questions to be adapted for
individual contexts in Africa, other LMICs
and beyond. This example is intended as
an illustration of ways to address different
scenarios for participant information and
consent questions. We welcome dialog and
recommendations for improvements to this
framework to benefit African participants in
the future.
Reporting Summary. Further information
on research design is available in the Nature
Research Reporting Summary linked to
this article.
Victoria Nembaware1,13, Katherine Johnston2,13,
Alpha A. Diallo3,4, Maritha J. Kotze5,6,
Alice Matimba7, Keymanthri Moodley8,
Godfrey B. Tangwa9, Rispah Torrorey-Sawe5,10
and Nicki Tin  2,11,12*
1Division of Human Genetics, University of Cape
Town, Cape Town, South Africa. 2Department of
Integrative Biomedical Sciences, Computational
Biology Division, University of Cape Town, Cape
Town, South Africa. 3Ministry of Health, Conakry,
Guinea. 4Chair of Public Health, University of
Conakry, Conakry, Guinea. 5Department of
Pathology, Division of Chemical Pathology, Faculty
of Medicine and Health Sciences, Stellenbosch
University, Stellenbosch, South Africa. 6Tygerberg
and National Health Laboratory Service, Tygerberg
Hospital, Parow, South Africa. 7Wellcome Genome
Campus Advanced Courses and Scientic
Conferences, Hinxton, UK. 8Centre for Medical Ethics
& Law, Department of Medicine, Faculty of Health
Sciences, Stellenbosch University, Stellenbosch, South
Africa. 9University of Yaounde 1 and Cameroon
Bioethics Initiative (CAMBIN), Yaounde, Cameroon.
10Immunology Department, School of Medicine,
College of Health Sciences, Moi University, Kesses,
Kenya. 11Wellcome Centre for Infectious Disease
Research in Africa, Institute for Infectious Disease
and Molecular Medicine, University of Cape Town,
Cape Town, South Africa. 12Centre for Infectious
Disease Epidemiology and Research, Public Health
and Family Medicine, University of Cape Town,
Cape Town, South Africa. 13ese authors contributed
equally: Victoria Nembaware, Katherine Johnston.
*e-mail: nicki.tin@uct.ac.za
Published: xx xx xxxx
https://doi.org/10.1038/s41588-019-0520-x
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Acknowledgements
N.T. is supported by the Wellcome Trust (203135/Z/16/Z)
and the National Institutes of Health (awards H3ABioNet
R01HD080465 and B-Positive U24HG006941). K.M.
is funded by The National Human Genome Research
Institute of the National Institutes of Health under award
number U01HG008222. K.J. is funded by National
Institutes of Health H3ABioNet award R01HD080465.
The research of M.J.K. is supported by the Strategic
Health Innovation Partnerships Unit of the South African
Medical Research Council, with funds received from
the Department of Science and Technology (Research
grant number S003665), the Cancer Association of
South Africa and the South African BioDesign Initiative
of the Department of Science and Technology and
the Technology Innovation Agency. R.T.-S. of the Moi
University/Teaching and Referral Hospital in Kenya
received a postdoctoral fellowship from Stellenbosch
University. V.N. is supported by the National Heart, Lung,
And Blood Institute of the National Institutes of Health
under award numbers U24HL135600 and 5U24HL135881.
The content is solely the responsibility of the authors and
does not necessarily represent the official views of the
National Institutes of Health.
Author contributions
N.T. conceptualized the framework and wrote the
manuscript outline. N.T. and all authors developed the
content of the framework and completed and reviewed the
manuscript content.
Competing interests
M.K. is a non-executive director and shareholder of
Gknowmix (Pty) Ltd.
Additional information
Supplementary information is available for this paper at
https://doi.org/10.1038/s41588-019-0520-x.
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... Typically, the options offered are formulated along the lines of issues supposed to be of individual or societal ethical relevance. For example, questions address types of disease the future research may be dealing with, options of sharing data with other institutions, and options regarding the return of information about incidental findings (Nembaware et al. 2019;Bunnik et al. 2013;Salvaterra et al. 2008;Mikkelsen et al. 2019). ...
... Tiered Consent is generally defended as a model that addresses interests of individual self-determination better than Broad Consent, as in this model the consent given can be either broad or more restricted, depending on the choice of the research participant. Use of this model has been recommended for research in third world countries, especially in Africa, where a Broad Consent approach might seem particularly problematic in light of a history of colonialism and exploitation (Tiffin 2018;Nembaware et al. 2019). ...
... If no clear process is implemented, it cannot be guaranteed that the individual preferences will actually be adhered to when future research studies are carried out. It has been suggested that standardized ontologies for labelling data samples would be a necessary requirement for a large-scale implementation of Tiered Consent (Nembaware et al. 2019). Digital solutions for storing consent information certainly seem the right way forward for enabling reuse of data as well as allowing for international research cooperation where this option is covered by the consent given. ...
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... Discussions to date on POPIA have very much focused on consent and in particular the legal status of broad consent i.e. consent to data to be used for unspecified future research [7,15]. This is perhaps reflective of the ongoing ethical debate on broad consent in research [16][17][18][19][20], but there has been very limited consideration of the wider issues in the use of personal health information in South Africa, particularly in the clinical context. Although broad consent, and in particular the need for clarification on the legal status of broad consent under POPIA was discussed by respondents, it was not a focus. ...
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The Protection of Personal Information Act (POPIA) 2013 came into force in South Africa on 1 July 2020. It seeks to strengthen the processing of personal information, including health information. While POPIA is to be welcomed, there are concerns about the impact it will have on the processing of health information. To ensure that the National Health Laboratory Service [NHLS] is compliant with these new strict processing requirements and that compliance does not negatively impact upon its current screening, treatment, surveillance and research mandate, it was decided to consider the development of a NHLS POPIA Code of Conduct for Personal Health. As part of the process of developing such a Code and better understand the challenges faced in the processing of personal health information in South Africa, 19 semi-structured interviews with stakeholders were conducted between June and September 2020. Overall, respondents welcomed the introduction of POPIA. However, they felt that there are tensions between the strengthening of data protection and the use of personal information for individual patient care, treatment programmes, and research. Respondents reported a need to rethink the management of personal health information in South Africa and identified 5 issues needing to be addressed at a national and an institutional level: an understanding of the importance of personal information; an understanding of POPIA and data protection; improve data quality; improve transparency in data use; and improve accountability in data use. The application of POPIA to the processing of personal health information is challenging, complex, and likely costly. However, personal health information must be appropriately managed to ensure the privacy of the data subject is protected, but equally that it is used as a resource in the individual’s and wider public interest.
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This paper explores that the topic of ethics dumping (ED), its causes and potential remedies. In ED, the weaknesses or gaps in ethics policies and systems of lower income countries are intentionally exploited for intellectual or financial gains through research and publishing by higher income countries with a more stringent or complex ethical infrastructure in which such research and publishing practices would not be permitted. Several examples are provided. Possible ED needs to be evaluated before research takes place, and detected prior to publication as an academic paper, because it might lead to a collaborative effort between a wealthier country with restrictive ethical policies and a less wealthy country with more permissive policies. Consequently, if that collaboration ultimately results in an academic paper, there are ethical ramifications of ED to scholarly communication. Institutional review board approval is central to avoid ED-based collaborations. Blind trust and goodwill alone cannot eliminate the exploitation of indigenous or “vulnerable” populations’ intellect and resources. Combining community-based participatory research using clear codes of research conduct and a simple but robust verification system in academic publishing may reduce the risks of ED-based research from being published.
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Stroke is a major cause of death in Sub-Saharan Africa (SSA) and genetic factors appear to play a part. This led to the development of stroke bio-banking and genomics research in SSA. Existing stroke studies have focused on causes, incidence rates, fatalities and effects. However, scant attention has been paid to the legal issues about stroke bio-banking and genomics research in the sub-region. Therefore, this article examines how genomics research and stroke bio-banking in SSA can be regulated through legislation. The article reports that there are germane issues to be addressed such as appropriate consent model, commercial use of biological samples, ownership right in biological samples and return of research results but that the position of the
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In the past decade, there has been an acceleration in genomic research, its applications, and its translation into healthcare products and services for the benefit of public health. These advances are critical to realizing the potential of genomic research for facilitating improved health and disease prevention, diagnosis, and treatment. Despite its tremendous opportunities, the dynamic and increasingly global landscape of genomic research commercialization has been accompanied by a variety of ethical challenges and concerns. The potential for unauthorized use of DNA samples from African people to develop a DNA chip amplifies discussion on the meanings, implications, and impacts of commercialization, benefit sharing, and appropriate consent in genomic research. Leadership of the Human Heredity and Health in Africa (H3Africa) Consortium convened a panel of experts to review research ethics practices employed in H3Africa Consortium projects and make recommendations regarding commercialization. Eighteen investigators submitted documents for projects involving data sharing and use of genetic information. A total of 39 informed consent documents associated with the 18 projects were reviewed. All 18 projects specified that samples would be used in future research. Less than half of the projects included language noting that samples could be used in drug or product development, that DNA samples would not be sold, and that profits would not be shared with participants. Four projects referred to commercialization. Analysis of information included in consent documents contributed to the development of a Commercialization Typology. The Typology identifies factors to consider regarding acceptability of particular instances of commercialization. DNA samples for translational research in product development require a transparent commercialization framework to inform the consent process.
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Genome-wide association studies (GWAS) test hundreds of thousands of genetic variants across many genomes to find those statistically associated with a specific trait or disease. This methodology has generated a myriad of robust associations for a range of traits and diseases, and the number of associated variants is expected to grow steadily as GWAS sample sizes increase. GWAS results have a range of applications, such as gaining insight into a phenotype’s underlying biology, estimating its heritability, calculating genetic correlations, making clinical risk predictions, informing drug development programmes and inferring potential causal relationships between risk factors and health outcomes. In this Primer, we provide the reader with an introduction to GWAS, explaining their statistical basis and how they are conducted, describe state-of-the art approaches and discuss limitations and challenges, concluding with an overview of the current and future applications for GWAS results. Uffelmann et al. describe the key considerations and best practices for conducting genome-wide association studies (GWAS), techniques for deriving functional inferences from the results and applications of GWAS in understanding disease risk and trait architecture. The Primer also provides information on the best practices for data sharing and discusses important ethical considerations when considering GWAS populations and data.
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Background Biobanking provides exciting opportunities for research on stored biospecimens. However, these opportunities to advance medical science are fraught with challenges including ethical and legal dilemmas. This study was undertaken to establish perspectives of South African stakeholders on the ethico-legal dimensions of biobanking. Methods An in-depth exploratory study was conducted with 25 purposively selected biobankers, clinicians, researchers, postgraduate students in biobanking research, and research ethics committee (REC) members in South Africa. Potential study participants were recruited through known hubs for biobanking in the country, online searches and the snowball sampling technique. A semi-structured face-to-face or Skype interview was arranged. Data was analysed using thematic analysis. Results The emergent themes included: inconsistency in understanding consent models, disconnect between biobank researchers and biosample donors, inadequate processes to support re-consenting minors, inconsistent governance processes for biobanking research; challenges with sample and data sharing, and suboptimal strategies for benefit sharing and return of results. Biobanking practice in general appeared to be inconsistent and fragmented. While the need for consent in research is explicitly outlined in legislative documents, some respondents were unclear on the type of consent model to apply in biosample collection. They also reported inconsistencies in research participants’ understanding of consent. Furthermore, these respondents’ own understanding of consent and consent models were dependent on where they were positioned in biobanking practice (roles occupied). Respondents were unsure about the process to follow to re-consent child participants once the age of majority (≥ 18 years) was reached. It was not surprising that consent was identified as one of the major ethical challenges in biobanking practice. In certain settings, some respondents reported suboptimal governance processes for sample collection. Participants were generally unsure about how to operationalise benefit sharing and how to approach the idea of returning results to research participants and biobank donors. Conclusion The study findings indicated inconsistencies in stakeholder understanding of ethico-legal considerations related to biobanking in South Africa. A need for ongoing ethics capacity development among stakeholders was identified. Improving understanding of the ethics of biobanking could be facilitated by acknowledging the disconnect created by biosamples in the relationship between biobank researchers and donors.
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Introduction: Community engagement (CE) is an ethical imperative in research, but the knowledge base for what constitutes effective and ethically sound CE is limited. Ubuntu, as a component of responsive communitarianism where communal welfare is valued together with individual autonomy, is useful in furthering our understanding of effective CE and how it could best be achieved. Similarly, a relative solidarity model serves as a compromise between extreme individualism and extreme communalism and is more appropriate in a heterogenous African context. Approaching CE from an Ubuntu philosophical perspective in southern Africa is particularly important in genomic biobanking, given the implications for individuals, families, and communities. Discussion: CE is often implemented in a token manner as an ancillary component of research. Understanding consent information is challenging where genomic biobanking is concerned due to scientific complexity. We started a process of CE around genomic biobanking and conducted empirical research in an attempt to develop a model to promote effective and ethically sound CE, using relative solidarity to create a nuanced application of Ubuntu. The TRUCE model is an eight-step model that uses social mapping to identify potential communities, establishes the scope of CE, and requires that communities are approached early. Co-creation strategies for CE are encouraged and co-ownership of knowledge production is emphasized. Recruiting and engaging communities at each stage of research is necessary. Evaluation and adaptation of CE strategies are included. Discussion and dissemination of results after the research is completed are encouraged. Conclusions: There is a significant gap between the theory of CE and its authentic application to research in Africa. This Ubuntu-inspired model facilitates bridging that gap and is particularly suited to genomic biobanking. The CE model enhances and complements the consent process and should be integrated into research as a funding and regulatory requirement where applicable.
Article
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Objectives To systematically review reasons for the willingness to participate in biomedical human subjects research in LMICs. Methods Five databases were systematically searched for articles published between 2000 and 2017 containing the domain of ‘human subjects research’ in ‘LMICs’ and determinant ‘reasons for (non)participation’. Reasons mentioned were extracted, ranked and results narratively described. Results 94 articles were included, 44 qualitative and 51 mixed‐methods studies. Altruism, personal health benefits, access to health care, monetary benefit, knowledge, social support, and trust were the most important reasons for participation. Primary reasons for non‐participation were safety concerns, inconvenience, stigmatization, lack of social support, confidentiality concerns, physical pain, efficacy concerns, and distrust. Stigmatization was a major concern in relation to HIV research. Reasons were similar across different regions, gender, non‐patient or patient participants, and real or hypothetical study designs. Conclusions Addressing factors that affect (non‐)participation in the planning process and during the conduct of research may enhance voluntary consent to participation and reduce barriers for potential participants. This article is protected by copyright. All rights reserved.
Article
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Given the data-rich nature of modern biomedical research, there is a pressing need for a systematic, structured, computer-readable way to capture, communicate, and manage sharing rules that apply to biomedical resources. This is essential for responsible recording, versioning, communication, querying, and actioning of resource sharing plans. However, lack of a common “information model” for rules and conditions that govern the sharing of materials, methods, software, data, and knowledge creates a fundamental barrier. Without this, it can be virtually impossible for Research Ethics Committees (RECs), Institutional Review Boards (IRBs), Data Access Committees (DACs), biobanks, and end users to confidently track, manage, and interpret applicable legal and ethical requirements. This raises costs and burdens of data stewardship and decreases efficient and responsible access to data, biospecimens, and other resources. To address this, the GA4GH and IRDiRC organizations sponsored the creation of the Automatable Discovery and Access Matrix (ADA-M, read simply as “Adam”). ADA-M is a comprehensive information model that provides the basis for producing structured metadata “Profiles” of regulatory conditions, thereby enabling efficient application of those conditions across regulatory spheres. Widespread use of ADA-M will aid researchers in globally searching and prescreening potential data and/or biospecimen resources for compatibility with their research plans in a responsible and efficient manner, increasing likelihood of timely DAC approvals while also significantly reducing time and effort DACs, RECs, and IRBs spend evaluating resource requests and research proposals. Extensive online documentation, software support, video guides, and an Application Programming Interface (API) for ADA-M have been made available.
Article
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Objective As genomic research gathers momentum in sub-Saharan Africa, it has become increasingly important to understand the reasons why individuals wish to participate in this kind of medical research. Against the background of communitarianism conceived as typical of African communities, it is often suggested that individuals consent to participate on the grounds of solidarity and to further the common good. In this paper, we seek to explore this contention by presenting data from focus groups with potential research participants about what would influence their decisions to participate in genomic research. Methods and results These focus groups were conducted as part of a larger qualitative study with a purposively selected group of participants from a community situated in south west Nigeria. We conducted fifteen focus group sessions comprising 50 participants organized by age and sex, namely: 1) adult (>30 years) males, 2) adult females, 3) youth (18–30 years) males, and 4) youth females. A mixed age-group was conducted to probe different views between the age groups. There was discordance and clear division between the adults and youths regarding the decision to participate in genomic research based on commitment to communal values. Adults based their decision to participate on altruism and furthering the common good while youths based their decisions on personal benefits and preferences and also took into account the views and welfare of family members and neighbours. Conclusions This discordance suggests a ‘generational shift’ and we advance a model of ‘relative solidarity’ among the youths, which is different from the communal solidarity model typical of African communitarianism. Our findings suggest the need for a closer look at strategies for implementation of community engagement and informed consent in genomic research in this region, and we recommend further studies to explore this emerging trend.
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