Clin Genet 2001: 59: 221 – 239
Printed in Ireland. All rights reser6ed
Opinion
Human genetic research, DNA banking and
consent: a question of ‘form’?
Deschênes M, Cardinal G, Knoppers BM, Glass KC. Human genetic
research, DNA banking and consent: a question of ‘form’?
Clin Genet 2001: 59: 221 – 239. © Munksgaard, 2001
M Deschênesa, G Cardinala,
BM Knoppersa and KC Glassb,*
Centre de recherche en droit public,
Faculté de droit, Université de Montreal,
Montreal, Canada, b McGill University,
Montreal, Canada
a
Key words: human genetic research –
DNA banking – consent form – coded –
anonymized
Corresponding author: Bartha Maria
Knoppers, Faculté de droit, Université de
Montreal, CP 6128, Succursale Centre-Ville,
Montreal, PQ, H3C 3J7, Canada. Tel: 1
514 343 6714; fax: 1 514 343 7508;
e-mail: knoppers@droit.umontreal.ca
The importance of consent in research involving
humans has long been recognized. The first article
of the Nuremberg Code (1) states that free and
informed consent is fundamental. Today, the consent process is accompanied by a form given to the
participant describing the pertinent aspects of the
research. It is a tool that stimulates dialogue between researchers and potential participants.
Although agreement exists on the necessity for
consent to ensure respect for the integrity and
* Mylène Deschênes and Geneviève Cardinal are Research
Associates at the Centre de recherche en droit public of the
Université de Montréal. Bartha Maria Knoppers is Full Professor at Université de Montréal and Senior Researcher at the
Centre de recherche en droit public and Canada Research
Chair in Law and Medicine. Kathleen Cranley Glass is Assistant Professor at McGill University, Director of the McGill
Biomedical Ethics Unit and Clinical Ethicist at The Montreal
Children’s Hospital. This paper was completed with the financial support from the Institut interuniversitaire de recherches
sur les populations (IREP), the Réseau de Médecine Génétique
Appliquée du FRSQ (RMGA), the Medical Research Council
of Canada, the Genetics and Society Project (GSP) of the
CRDP, as well as the Fonds FCAR number 06ER1076. This is a
revised English text based on an earlier French version and
adapted to the international context (see G. Cardinal, M
Deschênes, BM Knoppers and KC Glass, ‘Recherche en génétique humaine et consentement’, in La recherche en génétique
humaine: cadre éthique (Quebec Network of Applied Genetic
Medicine, 2000) at 18).
inviolability of the person, in practice it can be
difficult to determine which elements of information are required for consent to be truly informed.
This presents a challenge for both researchers and
Research Ethics Board (REB). They must identify
relevant topics, treat them accurately and ensure
that they are communicated in a way that is effective and personalized. The challenge is all the more
daunting for those involved in the rapidly evolving
domain of human genetic research and DNA
banking. This is a complex domain, not only scientifically but ethically and legally as well (2).
Genetic research takes place along a continuum
which is difficult to subdivide. The researcher must
project into the future and anticipate the progress
of research, the possible results it may yield and
the ensuing consequences for participants. It is
therefore important that the consent process include forms that adequately address these issues.
In this new field of endeavor, researchers may
require assistance in drafting consent forms – assistance to simplify the language, to encourage a
certain uniformity of approach, to identify the
relevant issues to be addressed (3) and finally to
incorporate the many standards which regulate
research involving DNA banking. Therefore, we
undertook a detailed study of consent forms with
the intention of developing one which is modular
and which offers the choice of various standard
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Deschênes et al.
clauses to be adapted to the specific needs of
research in human genetics. Our aim is to outline
the ethical issues underlying the various clauses
from a comparative perspective with a view to
fostering international harmonization.
The project began with the review of consent
forms developed by a number of institutions so
that we might identify a sampling of clauses currently in use. Elements specific to genetic research
were identified. We also examined relevant laws,
regulations and policies from national and international sources. For each of the chosen topics,
we drafted an optional clause. Researchers can
choose from among the proposed clauses to adapt
those that best respect the ethical norms relevant
to their own research (see Appendix: Consent
form).
In developing a consent form, it is important to
balance the interests of the participants with public
interest in the development of new knowledge. On
the one hand, drafting must take into account the
respect of human rights and the partnership that
should exist between the researcher and the participant. On the other hand, research, which is limited by inappropriate or excessively restrictive
clauses, can inhibit the progress of the research,
negatively affecting its scientific value (4). The proposed clauses were conceived to foster a research
process which respects both the rights of participants and the progress of human genetic research.
The clauses outlined below do not cover all
types of human genetic research. Consent to human genetic research which deals with specific populations (e.g. deceased persons, children and
incompetent adults) requires the modification or
addition of clauses. Guidelines and specific clauses
relating to population research are being developed
and will be the subject of a future publication. We
are also aware that genetic research is expanding
rapidly and that new issues will arise with this
expansion, issues which are impossible to foresee
at this point in time. It is likely that the clauses
proposed today will require modification or adaptation as new avenues of research open up in the
future. Finally, the clauses were drafted in the
hope of simplifying and harmonizing vocabulary
to make it more understandable for participants
(5).
Drafting was accompanied by vigorous debate
and, in certain cases, compromise of differing
views. The following text explains our reasoning in
making the choices we did. We hope that the
reader will find food for thought and for further
discussion.
222
I. Storage of DNA samples
The storage or banking of DNA samples poses
problems for which neither law nor ethics offers
unanimous solutions. The controversies surrounding the status and ownership of DNA are at the
center of several unresolved debates (6). This does
not affect the immediate need to address certain
subjects, such as the identification of samples, the
length of storage and possible use for other
research.
A. Sample identification
The literature establishes several categories of sample identification depending on the degree of identification of the consenting participant (7). The
Canadian Tri-Council Policy Statement uses four
categories for the identification of human tissue
samples: 1) identifiable, 2) traceable (coded), 3)
anonymized and 4) anonymous (8). Completely
anonymous samples (e.g. those coming from archeological digs) are of little interest to health-related
genomic research and are not part of our analysis.
In contrast, anonymized samples involve the stripping of identifiers but do contain some limited
demographic and clinical information. Anonymization allows a high level of protection for the
confidentiality of genetic information. The International Ethics Committee of the Human Genome
Organization points out, however, that such
anonymization may compromise the development
of future research since once anonymized, the sample cannot be identified and so no future clinical
data can be added or studied (9).
If not anonymized, the Canadian Tri-Council
Policy Statement (10) seems to require that banked
data be at least coded (therefore protected but
traceable) in order to minimize the risk of identifying the subjects in the bank and to safeguard
privacy. This allows for effective use of the coded
samples while limiting opportunity for breach of
confidentiality. To ensure effective protection, the
assignment of codes such as a health insurance
number, birth date or permanent code, which
would allow a person to be traced, must be
avoided. As stated in the Statement on Informed
Consent for Genetic Research of the American
Society of Human Genetics (ASHG): ‘Caution
must be exercised so that the amount and type of
linked information does not invalidate anonymity’
(11). Finally, it is important to secure any identifiable information related to participation with
limited access to the principal researcher or to
another delegated person (12). We propose that,
given the importance of maintaining privacy,
Human genetic research
banking of identified samples is unacceptable. It
offers little protection for preserving confidentiality.
B. Duration
There is no consensus in the various statements
concerning the length of time for sample conservation. Some ethics committees limit DNA sample
storage time by establishing an internal policy to
this effect. Others approach the issue on a case by
case basis in the absence of clear guidelines. Still
others see no need to establish any time limit or
fail to address whether anonymized samples are
covered. The Canadian Tri-Council Policy Statement takes the following position:
‘Though no international consensus currently
exists regarding long-term banking of genetic
material for the purposes of genetic research, the
storage of samples should be for a defined term;
some researchers state five years, while others
prefer 25 years to allow another generation to
potentially benefit from the information. In the
case of immortalized cell lines, researchers have
a duty to explain that the sample may be stored
indefinitely.’ (13)
The apparent flexibility of this statement leaves a
large margin of maneuverability for researchers.
Determination may be quite arbitrary since no one
guideline or regulation specifies a general ideal.
For greater certainty, we suggest a fixed time or at
least an indication of a possible endpoint (e.g. the
sample is used up a number of months after the
end of the trial or a fixed time followed by mandatory REB review) while maintaining the suggested
exception for immortalized cell lines. As we will see
later, even beyond such a period, use for other
research is still possible under certain conditions.
Indeed, it is the difficulty of exactly pinpointing the
timeframe of other future research that makes this
issue so difficult. Precise time limits may reassure
REBs but could be either shortsighted from the
point of view of scientific need and the validity of
an eventual study, the participant’s intent or simply serve as an attempt to circumscribe future legal
liability.
Whatever position is adopted, the real challenge
is to advise participants in the consent form of the
possible length of conservation and ensure that this
undertaking is respected. Limitations on the use of
DNA samples are particularly difficult to manage
when there are secondary uses of the samples or
where there are multi-centered research projects
which involve sending samples outside the institution and often outside the country. In order to
respect the choices of the participant, the researcher and institution responsible for the bank
must provide for a system that will allow for
confirmation of destruction or anonymization of
samples even when they are sent outside the
institution.
C. Other research
We use the term ‘other research’ to denote situations in which a sample may be used for purposes
other than the main objective for which the consent was originally sought (e.g. to pursue work on
another phenotype or disease) or when another
research team, possibly outside the institution or
even the country, is interested in using a sample for
other studies (14).
Consent is required to legitimize not only the
taking of the DNA samples but also eventual
use(s) (15). The fact that a person has consented to
the original research does not necessarily mean
that he or she will consent to subsequent research.
Subsequent research may have different objectives,
objectives that the participant is not prepared to
endorse (16). The circumstances surrounding later
research may be substantially different as well. It
may also be undertaken in another country, under
the direction of another researcher and within a
different framework of standards. Finally, the participant may have no objections whatsoever and
express the desire that the sample be used to contribute to the pursuit of any other therapeutic
research without further specification or recontact.
The authors of this text are divided on both the
issues of consent to future unspecified research
using anonymized samples and on consent to the
use of coded samples for future unspecified research with or without recontact.
The pursuit of other research with the original
samples without further consent jeopardizes the
balance which is constantly sought between the
rights of the individual participant and the interest
in developing knowledge that may be beneficial to
society. One of the difficulties with devising consent forms that are fully informative is the fact that
little may be known of all the future potential uses
of the samples at the time of drafting. Individuals
and their families may want to have their samples
available for such future research or not. Yet, one
may wonder if an open-ended consent leaves the
door open for possible disrespect of the personal
values of participants. Allowing DNA research
samples to be ‘mined’ like any other resource is not
only a breach of the participants’ personal autonomy, but risks harming the integrity of the person,
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Deschênes et al.
such harm may be of a psychological nature. This
occurs when certain information is provided to
third persons without consent, when there are discriminatory uses and when as mentioned, the sample is used in a way that is contrary to the values of
the participant.
In contrast, other arguments may be put forward in favor of not going back for another consent. First, harms related to future uses are
minimized because anonymized samples cannot be
linked to a participant. Secondly, if respect for
autonomy now includes explicit choices within the
consent process, should not a participant be free to
decide to be anonymized or even to remain coded
for unspecified future uses with or without recontact? Finally, if the choice is coding, there could be
legal risks for the sponsors (e.g. need to communicate back eventual findings).
Irrespective of this division of opinion, three
ways of meeting the standards of disclosure of
information and consent are found in the literature: 1) assuring the participant that no other
research will be performed on their sample or 2)
giving the participant the opportunity to consent
immediately to future uses of their sample in other
research without recontact or 3) promising to recontact the participant for a new consent should
other research on the sample be anticipated. Moreover, as we shall now see, further consent for
secondary uses can also be waived, obtained in a
blanket fashion or reduced to a simple notification.
We have considered all these different possibilities
in the treatment of coded and anonymized
samples.
(i) Wai6er of consent, blanket consent or notifica tion. As a general rule, further consent is a fundamental requirement and can only be waived in very
particular circumstances. In certain countries, it is
possible to bypass obtaining consent altogether for
the secondary use of tissues. For example, in the
United States, under the Federal Code of Regulation, the IRB can waive the requirement to obtain
consent once it is satisfied that certain criteria are
met: the research involves no more than minimal
risk, it will not adversely affect the rights and
welfare of the subjects and the research would not
be practicable otherwise (17). In that same vein,
the National Bioethics Advisory Commission
(NBAC) was of the opinion that most research
using human biological materials ‘is likely to be
considered of minimal risk because much of it
focuses on research that is not clinically relevant to
the sample source’ (18).
A similar mechanism is foreseen by the National
Health Medical Research Council of Australia in
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the National Statement on Ethical Conduct in
Research involving Humans (19). As a general
principle, consent is required for research on stored
material but, once again, the REB is entrusted with
the power of waiving the consent requirement taking into account a list of factors enumerated in the
statement. Amongst the elements considered are:
the nature of the consent accompanying the collected material, the proposed measures of protection of privacy, the justification of the waiver and
the risks to the participant (20). When a participant refuses future research in the initial consent
form, the Guidelines specifically require the destruction of the sample at the end of the protocol,
thus precluding any secondary use (21).
This is not to say that waiver of consent is
automatic in these provisions. As the NBAC report underscores:
‘When a study is of minimal risk, consent is no
longer needed by a subject as a form of self-protection against research harm. It is still appropriate to seek consent however, in order to show
respect for the subject, unless it is impracticable
to locate him or her in order to obtain it. Thus,
when important research poses little or no risk
to the subjects whose consent would be difficult
or impossible to obtain, it is appropriate to
waive the consent requirement.’ (22)
Such waivers need to be carefully considered.
Are they, in fact, a compromise between the need
to promote research over the destruction of the
sample or the repetition of DNA sampling?
Other than waiver, another approach to repeated consents and sampling is blanket consent.
The World Health Organization suggested in 1997
that blanket consent might be the most efficient
way to allow the use of samples in future projects
(23). However, this solution is subject to criticism.
One could ask if this constitutes a truly informed
consent as legally required in most jurisdictions.
Since the future potential uses are not known at
the time consent is given, can we really consider
that the participant received enough information
to legitimize any future use? Yet, blanket consent
at least gives the participant the opportunity to
authorize himself the future uses on his sample
(24).
Finally, the Human Genome Organization
Ethics Committee proposed a different approach.
They recommended in 1999 that stored samples,
left from other research projects, could be used for
other research if there is a general notification of
such policy, the participant has not objected and
the samples are coded or anonymized. This proce-
Human genetic research
dure offers a theorical right of refusal for the
participant. It requires the creation of a mechanism by which the refusal of the participant could
be registered and observed (25).
(ii) Coded samples. In the situation of coded samples, upon completion of a specified project, the
main drafting options are: that the coded sample
be destroyed; that the coded participant be recontacted in the future for further studies; that the
participant permits use of his coded DNA sample
for any study related to the condition for which the
sample was originally collected (or related diseases)
or that the coded sample be anonymized and used
in other research (as further discussed under the
next subtitle). Sometimes, the choice is imposed by
the research protocol as a matter of policy rather
than being offered as a choice to the participant.
Thus, for other future research on coded samples, the possibility of recontacting the participant
and securing consent is an option. Unless specified
otherwise, the refusal of a ‘coded’ participant to be
recontacted should be interpreted by the research
team as a refusal to use the sample for other
research and should be respected.
For later secondary uses with coded samples
(not already covered by the initial consent form),
numerous guidelines recommend making every effort to request a new consent. For instance, the
Canadian Tri-Council Policy Statement recommends that researchers seek free and informed
consent prior to use of DNA samples (26). The
ASHG also suggests recontacting the participants,
albeit with the possible waiver of such consent by
REB (previously discussed) (27). The Advisory
Committee on Genetic Testing of the United Kingdom is of the opinion that prior consent should be
obtained for each genetic test conducted on a
coded sample (28). Out of respect for the privacy
of the participant, a clause requesting the authorization to recontact the participant is therefore
recommended.
It is interesting to note that NBAC goes as far as
proposing (albeit with dissent) that research participants be permitted to provide coded samples for
any further research (if approved by an ethics
committee) without any obligation to recontact to
obtain a new consent (29). This remains an area of
controversy (30) because many consider that it is
not possible to adequately protect the participant
against risks with such samples (31).
(iii) Anonymized samples. Recontacting research
participants to provide the details of all future
research as it develops could impose a heavy burden on the researchers and disturb original partici-
pants. It also may not accord with the original
intent of participants to ‘help’ research find a cause
for a genetic condition (to say nothing of cure)
especially where the condition is familial. Anonymizing the samples for secondary use is a possibility. It protects the participant by removing any
link to the sample. The scientific disadvantage of
anonymization is that it freezes the sample in time
and so limits the potential validity of future uses
since clinical data cannot be updated.
From an ethics viewpoint, it seems preferable to
us that each consent form requests the authorization of the participant for the sample be used in
future research (32). For proposed research, it is
wise to foresee potential future research and be
respectful of the participant’s right to determine
future uses. We are also well aware that, once
anonymized, it is impossible to recontact the participant for further consent. All effort should thus
be put in the consent form to allow the participant
the chance to consider other uses. In order to
provide the most informed consent possible, the
safeguards put in place to monitor such future
research should be described at the outset.
Internationally, different types of safeguards are
put in place in order to ensure protection of the
participants and limit the possible illegitimate uses
of anonymized samples for further research.
First, anonymization itself is seen as a safeguard
for further studies. It minimizes the risk related to
privacy and the untoward communication of results. Second, the type of future research might
also be circumscribed or limited in nature (e.g. for
specific types of diseases only – heart disease).
Third, the REB can play an active role in the
approval of the use made of an anonymized sample. The REB can also monitor the anonymization
process to ensure a true de-identification of the
participant. Fourth, the participant could be given
the opportunity to refuse the secondary use of
tissue in the initial consent form (33). These possibilities should be described to the participant in the
initial form. At the same time, consent for subsequent uses of the anonymized sample should be
requested.
With anonymization and agreement to future
research, the participant does not have the opportunity to review information from each new protocol and make an individual decision about it.
However, it does allow a choice of whether to
continue participation in other research. This loss
of the ability to make a fully informed decision
about each future research protocol might be balanced by potential for new knowledge from the
research that will benefit society in general. Risk of
harm is also minimized by restrictive conditions.
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Deschênes et al.
Furthermore, with anonymized samples, potential
risks related to the harmful use of genetic information are significantly reduced. The approval of the
research ethics committee for each subsequent research proposal will also help to ensure additional
protection.
In the United States, use of anonymized samples
is usually exempt from the application of the Federal Code of Regulation under 45 CFR 46.101 (b)
4. Therefore, anonymized samples can be exempted from REB review and consent requirements. However, NBAC recommends that when
coded samples are anonymized for further studies,
special precautions should be put in place. An
REB must be satisfied that the unlikage process
will be effective and that the anonymization of the
sample will not reduce the value of the research
(34).
The Royal College of Physicians of United
Kingdom recently proposed guidelines on the use
of archived information (35). Samples may be used
without express consent if the samples are
anonymized, there is no inconvenience or hazard
for the subject and REB has specifically agreed to
the research protocol and to the exemption from
consent requirement. It should be noted that the
committee was divided on the need for this ethical
approval for anonymized samples. But the majority of the Committee supported the view that ‘in
today’s climate, research on patient data or tissues
was more securely conducted if a Research Ethics
Committee had approved the research and waived
the need for specific consent’ (36).
The Canadian Tri-Council Policy Statement endorses the secondary use of anonymized samples
without consent provided there is no potential
harm to research participants and the local laws
does not say otherwise (37). The ASHG [1996 US]
and the Advisory Committee on Genetic Testing
are both of the opinion that consent is not required
with anonymized samples but offers very little details on the safeguards which should be put in
place (38). The role of the REB is, however, taken
for granted.
II. Benefits
Genetic research offers the promise of new diagnostic and treatment avenues. Enthusiasm for
these developments, while motivating research participation, must nonetheless be grounded in realistic expectations. Potential benefits may accrue to
the participant, to society in general by the advancement of knowledge or to both. Consent
forms should state clearly any anticipated benefits.
Though it is pertinent to inform the participant of
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the possible benefits to society, participants should
not be misled concerning the benefits that they can
hope for themselves.
In the absence of a diagnostic test or of any
scientific or clinical validation of research findings
with clinical significance for the health of the participant, research results should not be offered to
the participants (39). Furthermore, a genotyping
project or a research project that seeks to simply
locate a gene does not necessarily offer any ‘health’
benefits to the participant (40).
III. Risks
The physical risks encountered by participating in
basic research are minimal. They are generally
limited to the risks related to the procedure used to
draw the DNA sample. When the sample is acquired as part of routine medical care, there are no
additional physical risks.
Absence of physical risk does not connote absence of psychological, social or economic risks
when identifiability (even of the group) is possible.
Whether they exist for any particular participant
will depend on individual circumstances, making
them difficult to define and describe to the participants. The researcher nonetheless has the obligation to reveal to the participant all known
potential risks related to the research (41).
There is no doubt that as soon as genetic information is collected about an individual, there is a
risk that this information may be revealed to a
third person with or without the consent of the
party involved. Once it is in the hands of third
parties, it could form the basis of discrimination.
Such a situation is of particular concern in the
areas of employment, immigration and insurance.
Without alarming the participant, one must acknowledge that no security system is infallible.
Apart from illegal access to information deemed
confidential, the participant and the research team
could be obliged by court order or by law to reveal
this information to third parties. Moreover, it is
possible that the simple fact of taking part in a
research project on a particular genetic mutation
can cause the participant to be associated de facto
with the disease. For these reasons, the participant
must be informed of such risks (42). We would
argue however, that for pure genotyping research
(e.g. preliminary data gathering; pure hypothesis
generation, etc.), these ‘warnings’ are misleading
when the samples are anonymized. Indeed, they
undermine and contradict the confidentiality that
is promised (see below).
Finally, in the case of research on particular
populations, the participant, as well as all the
Human genetic research
members of the community, could be exposed to
the same risks of stigmatization and discrimination
because of the association created, rightly or
wrongly, between the genetic mutation and the
population studied (43). The participant must also
be advised of this possibility. The nature of the
warning should be based on the actual potential
for harm and should avoid being unduly alarmist
in situations where harm is extremely unlikely.
IV. Confidentiality
Privacy is a fundamental human right deserving of
respect (44). Genetic information acquired about a
person over the course of research requires special
protection. Yet, the very nature of genetic research
makes this protection difficult. The results of some
genetic research may provide information not only
about the participants, but also about their
families. The research results may also provide
information relevant to their future health or the
health of their progeny.
Finally, an individual’s genetic code is unique
(45). For all these reasons, the retrieval, banking
and use of genetic information must be done in a
way that assures confidentiality. Questions relating
to the security of the data and of access by the
family or third parties should be addressed in the
consent form. The researcher must demonstrate
what measures are in place to protect the confidentiality of the genetic information.
A. Data security
In the absence of consent from the participant or
where allowed by law, genetic test results and
genetic counseling files should not be accessible to
third parties (46). Most members of the research
team are held to professional secrecy (47). Apart
from what norms require, researchers have everything to gain from maintaining the security of
genetic data. Confidentiality of genetic information
contributes to the creation of an atmosphere of
confidence which, in turn, may encourage recruitment. In this regard, we cannot emphasize enough
the importance of implementing an institutional
policy relative to the confidentiality of genetic information and explaining to the participants the
different security measures that are in place.
Measures such as placing research files under
lock and key, the use of computer-generated coded
or encrypted information, different access levels or
the identification of only one individual responsible for managing nominative information and corresponding codes, should all be considered (48).
Unfortunately, the identification of an individual
responsible for ensuring the safe and secure management of the research results is not systematic.
Another way to protect confidentiality is to keep
the fact of participation and the research results in
a file separate from the medical record. The assurance that the identity of the participant will not be
disclosed, even after the research project results
have been published, is essential.
Location of stored research data is of particular
importance. When data crosses provincial or national borders, it usually loses the protection of the
system where the personal information was initially collected. The explanation of security measures must therefore inform the participant of the
place or places where the research information will
be forwarded, the individuals who will have access
to the code and the nature of the information that
will be sent. In addition, individual choices and the
breadth of the permissible research or of confidentiality, as formulated or chosen by the participant,
must be communicated to the research collaborators.
B. Access to results
By virtue of the participant’s right to confidentiality, only specifically authorized individuals will
have access to genetic information and material. In
the absence of statute or court order, the express
consent of the participant is required for third
party access. Although this is a fundamental right,
there are exceptions with regard to the family, to
insurers, and employers.
(i) The family. The research team could find itself
legally or morally obligated to disclose genetic
information that it possesses without the consent
of the participant. For example, the province of
Quebec (Canada) permits the disclosure of genetic
information about a deceased person to ‘persons
related by blood […] to the extent that such communication is necessary to verify the existence of a
genetic or hereditary disease’ (49). This regulation
even allows one to disregard the refusal of the
deceased as evidenced in writing in the medical
record. The rights of the family could prevail over
those of the deceased individual. Even in situations
where a living adult refuses, the current trend in
the ethical guidelines governing genetics is in favor
of allowing professionals the discretion to warn
at-risk family members in limited circumstances. In
the situation of such a refusal by the participant,
information could only be disclosed to the biological family by the health professional, if there is a
high probability of serious risk to an identifiable
family member and the risk can be avoided by
preventive measures or treatment (50).
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Deschênes et al.
(ii) Third parties. Other third parties who may
claim an interest in the personal results of genetic
research are insurers (51), employers, educational
institutions, and government. Current guidelines
uniformly prohibit the disclosure of genetic information to third parties without the express consent
of the participant (52). The World Health Organization goes even further by recognizing that the
participant is in a vulnerable position with regards
to these institutions and that, given such circumstances, it is rare that consent by insurance or
employment applicants would be freely given.
Thus, even with consent, this guideline provides
that genetic information should not be accessible
to third parties (53). Certain American states have
adopted laws which prohibit access by health insurers to genetic research results but have not done
the same for life or disability insurance as in Europe (54). What is needed is not only clarification
of the ‘legitimate’ interests of employers and insurers but also of citizens in the protection of health
records and research records. As mentioned earlier
warnings of possible access and use by third parties
are not relevant in the context of research on
anonymized samples.
V. Communication of results
Communication of research results to participants
demonstrates appreciation for their collaboration.
Where feasible, the researcher should offer information to participants on the progress of the work,
the overall research results and, when appropriate,
personal results, if so desired. However desirable
this communication may be, it nonetheless presents
practical, ethical and legal problems.
A. General results
Aggregate research results should be communicated to interested participants in a timely fashion.
This type of communication does not really
present any real ethical or legal problems. It does
necessitate, however, that the researcher establishes
a means of communicating the information results
to the participants as quickly as possible (55). One
way would be to ask at the outset if participants
are interested in remaining generally informed,
even if the data would be preliminary.
B. Personal results
Research projects do not always yield information
relevant to the health of the participant. For example, this may be the case when a research project is
only in its preliminary stages. The consent form
228
should draw the attention of the participant to this
point.
In certain research, results will have relevance
for the health of participants. Whether they can be
communicated depends upon several circumstances. Firstly, the treatment of the information
will vary depending upon whether the sample was
anonymized or coded. If the research data was
anonymized, it is impossible to link the results to
the participants and communication of personal
results is thus impossible. The participant must be
informed of this fact at the outset of the research.
Again, the possibility of receiving overall results on
general progress remains.
If samples were coded, the researchers must determine at the beginning of the project whether the
results specific to each participant can be communicated to them at the end of the research project.
There is also the issue of choice of the participant to know or not. Even before completion of
the research, participants who wish to know
should be informed about the availability of scientifically validated results which may have an impact on their health and whether prevention or
treatment is available (56). They may express a
desire not to have such results (57). This means
that if such validated data become available, participants should be advised by their physician of
the possibility of clinical testing and:or access to
genetic counseling. In the presence of such results,
some wonder if there is potential for legal liability
for failure to warn, unless the participant has expressly declined to know the results (58).
Whatever the choice, the participant must understand that disclosure of personal information
carries some risks. Communication of the results
can bring about very real psychosocial risks for the
participant (family conflict, disruption of relationships, anxiety, etc.) or increase the risk of discrimination by third parties. To make an informed
choice concerning whether to receive test results,
participants must be advised of their inclusion in
the medical record and of the consequences of
their choice.
In communicating results, we suggest sending
the information through a physician. The physician is in a better position than the researcher to
gage the proper opportunity to share the information with the participant given his or her knowledge of the patient, of the medical record and of
available clinical testing. The physician can also
ensure that the medical and psychological support
is in place.
In much genetic research, the contact between
the participant and the research team is often very
limited as the presence of the participant is re-
Human genetic research
quired only when the DNA sample is taken. It can
therefore be easy to lose contact if the participant
moves. It should be the undertaking of participants to keep their coordinates up-to-date with the
researcher if they wish to be informed of aggregate
or specific results (59).
VI. Genetic counseling
As mentioned, disclosure of information may
carry social or economic risks. When relevant to
the health of the participant, the communication
of the research results may be psychologically trying for the participant and, in some cases, the
family. Information concerning health risks could
even alter the participants’ decisions regarding
their future plans. It is thus essential that participants understand the implications, both positive
and negative, of any genetic information conveyed, especially its probabilistic nature. For example, being a carrier of a gene linked to a disease
does not mean that one will develop that disease.
Although this is obvious to the research team, it
may not be to the participant. When information
relative to a genetic condition is communicated to
a participant, the assistance of a professional to
understand its impact will usually be required.
Genetic counseling plays a key role in transmitting research results. Given the complexity of genetic information and its social repercussions,
genetic counseling services should be offered to
participants to enable them to weigh the advantages and disadvantages associated with their participation in an enlightened way (60).
VII. Commercialization
Even if researchers do not own genetic material,
any ‘inventions’ resulting from research may give
rise to intellectual property or commercializable
products (61). The possibilities for commercializing human genetic research have grown considerably in recent years (62). Some genetic material
can be used to create products that are ultimately
commercializable and certain participants may expect to share in the profits derived from such
products. This expectation has already given way
to a famous lawsuit in the United States (63). The
researcher must advise participants of commercialization (64) and of the fact that they will not
personally profit from their contributions to the
research (65). Such notification to participants
does not exclude possible agreements that foresee
a form of benefit sharing, as endorsed by the
Human Genome Organization (66). Communities
or populations can benefit from technology trans-
fer, the provision of healthcare or free drugs, indemnities or use of a percentage of the financial
gains for humanitarian ends.
Furthermore, the fact that the financial rewards
from commercializing products derived from the
analysis of DNA are not shared with the participants neither frees the researcher from ensuring
the rapid release of research results, nor from
promoting collaboration between members of the
scientific community and from encouraging the
granting of non-exclusive licenses when a patent is
granted.
Challenges in the field of commercialization are
at the uprising. For instance, the development of
genetic testing through the participation of
families raises questions about the eventual access
of those products by the participant and their
families (67).
VIII. Conflicts of interest
Transparency in the disclosure of apparent or real
conflicts of interest to the participant is a recent
practice. The rise of for-profit research and of
partnering with industry raises new issues for
many researchers in academic or hospital settings
(68). Such conflict has always existed but with the
multiplicity of players and increased commercialization of research, risks of conflicts of interest
increase significantly (69). To maintain the confidence of participants, it is important to disclose
the source of financing to the participant (70). The
principal researcher may be paid, for example, by
the sponsor or be a shareholder. The recent version of the Declaration of Helsinki specifically
requires that researchers submit to the REB ‘information regarding funding, sponsors, institutional
affiliations, other potential conflict of interest and
incentives for subject’ (71). The Canadian TriCouncil Policy Statement maintains that the researcher disclose any conflict of interest – real,
apparent or eventual – to the ethics committee. It
adds that ‘when a significant real or apparent
conflict of interest is brought to its attention, the
REB should require the researcher to disclose this
conflict to the prospective subjects during the free
and informed consent process’ (72). While disclosure of conflict of interest promotes transparency,
the simple fact of informing participants of the
presence or appearance of conflicts of interest cannot control, avoid and resolve conflicts of interest
(73). The burden of determining serious conflict
should not be shifted to participants. It should be
resolved at the institutional level and through the
filter of the ethics review committee.
229
Deschênes et al.
IX. Recruitment of family members
Genes being familial, researchers may need to recruit blood-related family members. The recruitment process must respect the private lives of
participants and their family. The researcher and
the members of the medical team should not attempt to contact the family members directly but
should ask the participant to act as intermediary
with his family (74). The participant is free to
choose whether to contact family members or not.
Family members then have the option to get in
touch with the research team. Choices must be
respected.
X. Freedom of participation and period of reflection
Freedom of participation is composed of three
elements. First, the participant cannot be coerced
to participate and may choose to enroll or not. The
second element is the right of participants to withdraw from the research at any time without prejudice (75). This implies that one cannot associate
access and care with participation in research.
From the second element flows unavoidably a
third one: the possibility for participants who exercise the right of withdrawal to have their DNA
samples destroyed (76). When research takes place
on different sites, researchers should ensure that all
existing samples are, in fact, destroyed so as to
fully respect the will of the participant. The
anonymized sample is the exception to this principle, as it is impossible to trace it for destruction.
The participant whose sample is anonymized must
be made aware that withdrawal will be impossible.
XI. Ethics Committee approval
Most ethics norms governing research require that
all research on humans be evaluated and approved
by an REB (77). This has become a widely accepted practice. A clause informing the participant
that the research project was previously approved
by an ethics committee has recently appeared in
certain consent forms. Opinions are mixed on the
impact of this type of clause on the consent of the
participant. There is a danger of abdication on the
part of the participant who will blindly rely on the
opinion of the ethics committee to make a decision
about the validity of his participation. In spite of
this risk, we believe that it constitutes a pertinent
fact that the participant should be aware of in
making an informed decision. While not offering
any guarantee as to the progress of the research or
the desired benefits, ethics committee approval following a thorough evaluation of a project for both
230
scientific and ethical acceptability, makes it more
likely that the project will respect minimal ethical
standards.
XII. Compensation for expenses incurred and
inconvenience
Participation in research is not a ‘for-profit’ endeavor (78). However, expenses, time and inconvenience are usually reimbursed. The same holds true
for genetic research. Expenses covered include
parking, transportation, childcare and missed work
hours. The inconvenience will be minimal or nonexistent in the context of DNA sampling.
The amount of indemnity must be fair and reasonable without becoming an incentive to participate. It is thus important to enumerate for the
participant the type and the amount of reimbursable expenses. When there is no reimbursement for expenses, this should be mentioned.
XIII. Civil liability
Liability of the various parties in a research project
can be triggered by negligence causing physical,
moral or material injury. In the context of genetic
research for example, one can imagine a breach of
the contractual obligation to limit use or to destroy
the sample or a breach of confidentiality caused by
the negligent action of one of the parties. Many
jurisdictions do not accept limitations of liability
(79). Participants maintain all their legal rights
with respect to the other parties involved in the
research, including the researcher, the sponsor and
the institution in which it takes place, even if the
project does not expressly provide for an indemnity:compensation plan.
XIV. Obligations of the researcher
Increasingly, consent forms contain a clause
affirming the obligations of the researcher towards
the participant. This undertaking specifically reiterates the personal obligation of the researcher to
adequately inform the participant so that the latter
can provide a consent which is fully informed. This
denotes the professionalism of the researcher.
Conclusion
We have identified issues specific to genetic research and proposed consent clauses (see attached
form) based on a ‘holistic’ conception of the integrity and inviolability of the person. The clauses
we have proposed are meant to be used by researchers as a tool. The modular form allows for
Human genetic research
several options from which researchers may choose
and then adapt to the specific contexts of their own
research projects.
Our review of the ethical issues surrounding
consent and DNA banking reveals that many of
the ethical and legal controversies of genetic research remain unresolved. We hope, however, to
not only have stimulated discussion on the possible
harmonization of approaches to DNA sampling
and banking for research but also to have encouraged respect for the rights of participants. We
consider this respect to be a crucial element for
creating a climate conducive both to protection of
research participants and to progress in the field of
human genetics.
Acknowledgements
The authors would like to thank Catherine Mosco for her
helpful collaboration in preparing the English version of
the document.
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supra note 12 princ. I. See also Knoppers BM. Towards a
reconstruction of the ‘genetic family’: New principles? Int.
Dig. of Hlth Leg. 1998: 49 (1): 241; NHMRC National
Statement, supra note 19 princ. 16.10 (g).
75. Declaration of Helsinki, supra note 4 princ. 22; CIOMS
Guidelines for Biomedical Research, supra note 4 guideline
2.
76. Weir RF, Horton JR, supra note 14 at 3; Statement of
Principles: Human Genome Research, supra note 12 princ.
II (1); NHMRC National Statement supra note 19, princ.
16.10 (j).
77. Declaration of Helsinki, supra note 4 princ. 13; CIOMS
Guidelines for Biomedical Research supra note 44 guideline 14; International Conference on Harmonization of
Technical Requirements for the Registration of Pharmaceuticals for Human Use (ICH), Note for Guidance on
Good Clinical Practice (CPMP:ICH:135:95) May 1st,
1996, online: Health Canada B http:::www.hc-sc.gc.ca:
hpb-dgps:therapeut:zfiles:english:guides:ich:efficacy:goodclin – e.html \ (date accessed: August 1st, 2000), sec. 2.6;
World Health Organization, Operational Guidelines for
Ethics Committees That Review Biomedical Research,
Geneva (2000) online World Health Organization B http::
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:www.who.int:tdr:publications:publications:pdf:ethics.pdf
\ (date accessed: August 11th, 2000); Tri-Council Policy
Statement, supra note 8 art. 1.1; CMA Code of Ethics,
supra note 47 s. 25.
78. Statement on Benefit-Sharing, supra note 55; CIOMS
Guidelines for Biomedical Research, supra note 44 guideline 4. See e.g. the province of Quebec (Canada) where
‘[a]n experiment may not give rise to any financial reward
other than the payment of an indemnity as compensation
for the loss and inconvenience suffered.’, Civil Code of
Quebec, art. 25.
79. For example, the province of Quebec (Canada), specifically
prohibits clauses which limit moral or physical damages,
see Civil Code of Quebec, art. 1474.
Appendix: Consent form
Genetic research and DNA banking
By M Deschênes, G Cardinal, BM Knoppers and KC Glass
1. RESEARCH PROJECT DESCRIPTION
Title:
Principal researcher responsible for the project: (name and function)
Collaborators: (names and functions)
Institution:
Project financed by:
1.1. Justification:
“
“
Purpose of the research
Simplification of relevant terms
1.2. Description of the research project: specify goals, contribution to the advancement of human knowledge and welfare in a particular domain.
1.3. Request for participation
We are asking for your participation in this research project.
2. PROGRESSION OF THE RESEARCH PROJECT
2.1. Procedures (description of the procedures, number and duration).
2.2. Duration of the research project.
2.3. Scope of the research project (local or multicentered: name of the responsible organizations).
Several research centres (e.g.: world-wide, in Canada, in Quebec, in Montreal) are participating in this
research project co-ordinated by ……… (institution or organization).
OR
This research will take place at .…….. (name of the institution).
2.4. Access to your medical record
The research team will consult your medical record to obtain information which is pertinent to the
research project.
2.5. Combination with other information
Your name will be sent to ……… (a demographic or genealogical data bank or tumour registry, for
example) so that additional research can be performed (nature of the research: genealogical, demographic).
We will combine this information with the results of our work in order to ……… (explanations).
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3. STORAGE AND SAFEKEEPING OF DNA SAMPLES
3.1. Identification of the sample
Coded
Anonymized
We will protect the confidentiality of the sam- We will protect the confidentiality of the samples by
ples by assigning them a specific code. Your rendering them anonymous; in other words, after the
DNA sample will not be specifically identified sample is taken, all identifiers, which would allow you
but a code will link you to the sample. Decod- to be retraced, will be deleted. The researcher may
ing can only be performed by the principal decide to include specific information with the sample
researcher or an individual authorized by the (such as your age, your sex, or certain clinical, patholatter.
logical or demographic data, etc...); this information,
however, would not allow you to be identified or retraced.
3.2. Length of storage
Coded & Anonymized
Samples of your DNA will be kept at (institute, research institute:center or bank) for a fixed period under
the responsibility of (researcher or person(s) responsible for the bank). All the samples will be destroyed
at the end of (length of time).
OR
Samples of your DNA will be kept at (institute, research center or bank) under the responsibility of
(researcher or person(s) responsible for the bank) for X months:years after the end of the research project.
After this time, all the samples will be destroyed.
OR
Samples of your DNA will be kept in the form of immortalized cell lines, hence for an indefinite period
at (institute, research center or the bank).
3.3. Other research1
Coded
Your sample will be used only for the purposes
of this research project.
OR
A new consent will be necessary for the use of
your coded DNA sample in other research.
May we recontact you in the future for other
research?
Yes:No
OR
At the end of the research project, instead of
destroying your sample, could we use your
coded sample for additional research on ………
(disease X or related diseases) approved by the
REB? Those research could involve the sending
of samples to other researchers, including those
outside of this institution.
Yes:No
Anonymized
Your sample will be used only for the purposes of this
research project.
OR
Can your sample, once anonymized, be used in other
human genetic research on ……… (disease X or related
diseases) approved by the REB? Such research may
necessitate the releasing of samples to other researchers,
including those outside of this institution.
Yes:No
OR
Can your sample, once anonymized, be used in any
other human genetic research approved by the REB?
Such research may necessitate the releasing of samples
to other researchers, including those outside of this
institution. You will not be informed of the nature and
the results of future research done with your samples
and further consent will not be sought.
Yes:No
The authors of the text would prefer that all the following choices found in this form be offered to participants. However, it is
understood that any number of these clauses could be written in an affirmative style indicating an institutional policy with no
corresponding choices.
1
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Deschênes et al.
OR
At the end of the research project, instead of
destroying your sample, could we anonymize it
so that it can be used for additional research on
……… (disease X or related diseases) approved
by the REB? Those research could involve the
sending of samples to other researchers, including those outside of this institution. However,
you would no longer be identifiable. You will
not be informed of the results of future research done with your samples and further
consent will not be sought.
Yes:No
OR
At the end of the research project, instead of
destroying your sample, could we anonymize it
so that it can be used in any other human
genetic research approved by the research
ethics board? Such research may necessitate the
releasing of samples to other researchers, including those outside of this institution. However, you would no longer be identifiable. You
will not be informed of the nature and the
results of future research done with your samples and further consent will not be sought.
Yes:No
4. BENEFITS
You will receive no personal benefit from your participation in this research project. We hope, however,
that the results obtained will permit us to further our knowledge in the area of ……… by ……… (in what
way?) and eventually, benefit society as a whole.
OR
The information gathered might be useful for you and your family’s health. We also hope that the
results will permit us to further our knowledge in the area of ……… by ……… (in what way?) and
eventually, benefit society as a whole.
5. RISKS
5.1. Physical risks
Although the taking of the blood sample causes no serious problems for most people, it can cause some
bleeding, bruising, malaise, dizziness, infection and:or discomfort at the injection site.
OR
Since this research is being performed with samples that have already been taken (options: in the course
of your treatment, for a biopsy, etc…), you will not be exposed to any physical risk associated with the
taking of a DNA sample.
5.2. Socio-economic risks
One of the risks associated with this research project relates to the disclosure of the results or the
disclosure of your participation to third parties. Participation in genetic research projects could compromise or diminish your chances and the chances of your family, for example, of obtaining insurance (life
insurance, disability, mortgage or health), certain types of employment and immigration.
AND
In cases of specific population studies :
In consideration of the fact that the research project relates to ……... (specify: a social group, an ethnic
group, a sub-population, a visible minority), it is possible that the release of the general results may cause
you to be associated with this gene even if you are not a carrier and that you may be identified as a person
at risk by virtue of your membership in this group.
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Human genetic research
6. CONFIDENTIALITY
6.1. Safety:security of the data
Coded
All of the information obtained about you and
the results of the research will be treated confidentially. This information will be (coded, encrypted, kept under lock and key). The study
file will be kept at ..……. under the responsibility of ……… and also in the electronic files of
………
Your participation and the results of the research will (will not) appear in your medical
record.
The aggregated results of this study may be
published or communicated in other ways, but
it will be impossible to identify you.
Anonymized
All of the information obtained about you and the
results of the research will be treated confidentially.
This information will be immediately anonymized.
Your personal results will not appear in your medical
record, as it is impossible to identify you.
The aggregated results of this study may be published
or communicated in other ways, but it will be impossible to identify you.
6.2. Third-party access to the results
Coded
Anonymized
Unless you have provided specific authoriza- As all the information in this research project is rention, where the law permits or a court order has dered anonymous, your personal results cannot be
been obtained, your personal results will not be made available to third parties such as employers, govmade available to third parties such as employ- ernmental organizations, insurance companies or eduers, governmental organizations, insurance cational institutions. This also applies to your spouse,
companies or educational institutions. This also other members of your family and your physician.
applies to your spouse, other members of your
family and your physician.
AND
However, for the purposes of ensuring the proper management of the research, it is possible that a
member of an ethics committee, a Health Canada representative (FDA…) or (list the designated
institutions) may consult your research data as well as your medical record.
7. COMMUNICATION OF THE RESULTS
Coded
You can communicate with the research team
to obtain information on the general program
or the results of the research project. Project
updates will be ……… (specify: sent by mail,
posted on our website), ……… (specify: once a
year, at the end of the project). However, we
will not communicate any individual results to
you.
You can communicate with the research team
to obtain information on the status of the work
or the general results of the research project.
Project updates will be ……… (specify: send by
mail, put on our website) ……… (specify: once
a year, at the end of the project).
In the case of scientifically validated results
with possible impact for your health and where
preventive measures or treatment are available,
would you like to be informed through a physician?
Yes:No
Anonymized
Since your data has been anonymized, it is therefore
impossible to communicate personal results. Nevertheless, you can communicate with the research team to
obtain information on the status of the work or the
general results of the research project. Project updates
will be ……… (specify: send by mail, put on our website) ……… (specify: once a year, at the end of the
project).
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Deschênes et al.
The communication of this type of information
carries risks for you and your family, such as
anxiety, discrimination (employment, insurance) and has implications for reproductive
decisions.
AND:OR
in the case of a family study:
The results of the analysis may uncover nonpaternity but this will not be communicated to
you.
8. GENETIC COUNSELING SERVICES
At any time, you may meet with a genetic counselor.
9. COMMERCIALIZATION:RENUNCIATION
The analysis of your DNA sample may contribute to the creation of commercial products from which
you will receive no financial benefit.
10. CONFLICT OF INTEREST
The principal researcher and:or the institution is:are paid by the ………. company which is sponsoring
this project.
AND:OR
The principal researcher and:or the institution has:have a financial interest in the ……… company
which is sponsoring this project.
11. RECRUITMENT OF OTHER FAMILY MEMBERS
Over the course of the study, it is possible that we may ask you or a person you will designate, to contact
other members of your family to offer them the opportunity to participate in the study. You are free to
accept or not. The researchers and their medical team cannot personally contact your family members for
recruitment purposes.
12. FREEDOM OF PARTICIPATION AND PERIOD OF REFLECTION
Coded
Anonymized
Your participation is completely free and voluntary. The quality of medical services available to you will
not be affected by your decision. You may take the time necessary to reflect on your decision and discuss
your participation in the project with persons close to you before giving us your answer.
AND
You are free to withdraw from the study at any As your DNA sample will be anonymized, it will be
time. If you withdraw, your DNA sample will impossible to retrace and destroy it upon request.
be retraced and destroyed. You will be so informed.
13. COMPENSATION FOR EXPENSES INCURRED AND FOR INCONVENIENCE
If you incur expenses by reason of your participation (for example: parking, travel, child-care, meals)
you will be reimbursed upon presentation of receipts.
OR
You will receive a lump sum of ……… as compensation for expenses and inconvenience suffered.
OR
Expenses incurred by reason of your participation will not be reimbursed.
14. CIVIL LIABILITY
If you suffer any injury as a result of your participation in this project, you retain all legal recourses
against the research collaborators.
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Human genetic research
15. RESOURCE PERSONS
Members of the research team
If you would like additional information regarding the progress of the research project or would like to
communicate any change of address to us, you can contact ……… (name, designation:position and
availability) at the following phone number: ………
Ombudsman, ethics committee or authorized person
If you would like to discuss your participation with an individual not directly involved in the project, we
invite you to contact ……… (name, designation:position and availability) at the following phone number:
………
16. FINAL WORD: UNDERSTANDING, FREEDOM, QUESTIONS
……… (name) ……… explained the nature and the progress of the research project. I have familiarized
myself with the consent form and have received a copy. I have had the opportunity to ask questions that
have been answered. Upon reflection, I agree to participate in this research project.
17. SIGNATURE, NAME, DATE
Name:
Surname:
Address:
Tel. (home):
Tel. (work):
I will inform the principal researcher of any change of address.
Signature of participant:
Date:
18. VERBAL TRANSLATION
I was present during the meeting between the research team member and the participant. I translated,
for the participant, the consent form and all information presented regarding the research project.
Name
Date
Signature
19. AGREEMENT OF THE RESEARCHER
The research project, as well as the conditions of participation, were described to the participant. A
member of the research team answered any questions and explained that participation was voluntary.
Name
Date
Signature of the researcher
20. ETHICS COMMITTEE APPROVAL
The research project was approved by the Research Ethics Board of ……… (institution), on ………
(date).
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