Genetic
Testing in Studies
The following is a
broad set of guidelines
concerning questions
raised by genetics
studies which we would
like investigators
to address when they
apply to do human research
involving genetic testing.
When the reviewing
Committee looks for
such information and
does not find it, then
the Committee will
request the investigator
to provide the information
in writing, so that
the Committee will
be able to complete
its review of the application.
Information to Provide
When Applying
Please note:
In response to increasing
national concern about
genetic testing and
other genetic studies,
the University of Washington
Human Subjects Committees
are now examining all
studies which involve
genetics with increased
scrutiny. While genetic
studies often involve
minimal physical risk,
they do carry significant
psychological and social
risks. Genetic information
carries with it risks
to insurability, risks
to family life (for
example, in incidentally
generated information
about paternity), and
risks to life plans
(for example, from
discovery of previously
unknown but possibly
stigmatizing conditions).
In your response to
the specific questions
below clearly delineate
the risks, and address
how you will seek to
minimize them. (See
specific questions,
below.)
Note
that these issues must
be addressed in any study
in which samples are
to be obtained for genetic
analysis. This includes
such studies as industry-sponsored
drug or device trials
in which genetics research
is not the main focus
of the study, and the
donation of a sample
for potential genetic
testing is optional.
- Do your studies
involve the analysis
of genes known to
be implicated in
the disorder(s),
syndrome(s) or condition(s)
you are studying?
If so, what genes
will you be studying?
Alternatively, do
your studies involve
finding the gene(s)
that may cause the
condition, or genetic
markers that cosegregate
with this condition?
- Clarify how samples
will be identified.
Will they be
kept confidentially
or anonymously? "Confidential" means
that the samples
will be coded,
with a key
to the code
(such as a
master list)
linking code
numbers to
names kept
at a separate
location, under
lock and key. "Anonymous" means
that the samples
are either
not coded,
or they have
code numbers
that are no
longer linked
to any specific
individuals.
- If
samples
will be kept confidentially,
clarify
when the link to
identifiers (i.e.,
the master list)
will be destroyed.
If relevant, provide
justification
for keeping
the link past the
end of
the research study.
- Is it
your intent to
perform family studies
now or in the future?
Specifically, will
you be studying
affected individuals
only, or will you
also be interested
in studying family
members of affected
individuals
(whether affected
or unaffected)?
- Are there
effective treatments
for the diseases/syndromes
that you
are studying? Are
they curable? What
are the ages of onset?
Is it possible
that your testing
will provide evidence
of previously undiagnosed
or unrecognized
illness, or susceptibility
to illness? Might
you discover that
an asymptomatic individual
has a defective
gene? What will this
mean for the subject,
in terms of risk
and/or course of
disease?
- Please
confirm that
the samples will
not be used for any
purpose other than
to study genes related
to the diseases discussed
in the consent form.
- Will
the blood samples
be used to establish
permanent cell
lines that will provide
a continuing supply
of DNA?
- Confidentiality
is a critical issue
with respect to
genetic studies.
This means protection
of data from family
members, as well
as from insurance
companies,
employers, and other
individuals or organizations.
Please describe
how the data will
be stored, and to
whom they will be
available. Please
confirm that study
data will not be
revealed to any organizations
or individuals other
than the subjects
themselves. Please
confirm that you
will not enter
any study data in
subjects' medical
records since placing
any genetic information
in subjects' medical
records may lead
to denial of medical
insurance and/or
employment.
- Will
the subjects be asked
to be a part of a
registry so that
they can be contacted
in the future?
Could they participate
in the study even
if they decline?
Subjects must be
informed about this
registry and
must be given the
choice of whether
or not to participate.
- The National Bioethics
Advisory Commission
report recommends
that subjects' genetics
data be made
available to subjects
under certain circumstances.
Disclosure should occur
only when all of the
following apply:
- the
findings are
scientifically
valid and confirmed,
- the findings
have significant
implications
for the subject's
health concerns,
and
- a course
of action to
ameliorate
or treat these
concerns is readily
available.
Please
comment as to whether
your studies
are likely
to result in
findings that
may meet the
above three
criteria.
- Should the results
meet the qualifications
outlined above,
we recommend that
genetics data be
made available to
subjects, to those
subjects who
desire results. Washington
State Law requires
that your laboratory
be certified
as a Medical Test
Site in order for
you to report laboratory
results to subjects.
Do you have a
Medical Test Site
License? If not,
to apply for such
a license please
contact
Gail V.
Neuenschwander,
Program Manager
Office of Laboratory
Quality Assurance
1610 NE 150th St.
Shoreline, WA 98155
Telephone number:
(206)361-2805
FAX number: (206)361-2813
Email: Gail.Neuenschwander@DOH.WA.GOV
The
licensing process
will confirm
that you are
able to provide
clinically
valid results
to subjects.
- Please describe
the genetics counseling
that will be
available to subjects
before and after
testing. Confirm
that subjects will
receive individual,
face-to-face
counseling from a
professional genetics
counselor. Please
describe the training
and experience of
the counselors. In
addition, please
confirm that you
will convey genetics
information, including
that which may be
of clinical relevance
to the subject, only
if the subject wants
to know. Subjects
have the right
to decline to be
informed as to their
genetic status.
- For studies in
which the DNA analysis
will be performed
by someone other
than the researchers
(for example,
researchers at a
commercial entity):
Unless
genetics results
will be given back
to the study
subjects, the Committee
suggests that the
samples be anonymized
- i.e., stripped
of identifiers
and given a separate
code numbers unrelated
to the subjects'
identification
numbers. In this
way the DNA information
could never be traced
back to a particular
individual. The samples
might be linked to
a data set of certain
information about
the individual from
which the sample
came (e.g., age,
gender, blood pressure),
but not in such
a way that it may
be traced back to
the individual. The
reason to do this
is to maximize the
protection of the
genetic information.
There will be no
way possible for
subject identification,
therefore removing
any possibility
of stigmatization
of the subject,
loss of insurability
or loss of employability.
Please address
these issues and
describe the system
that will be used
to protect subjects'
privacy.
Suggested Reading
Clayton, E.W. et al.
(1995). "Informed
Consent for Genetic
Research on Stored
Tissue Samples." JAMA,
December 13, 1995.
Vol. 274, no.22.
Kass,
N.E. (1993). "Participation
in Pedigree Studies
and the Risk of Impeded
Access to Health Insurance." IRB.
Sept.-Oct. 1993, pp.7-10.
Weir, Robert F., and
Horton, Jay R. (1995). "DNA
Banking and Informed
Consent, Parts 1 & 2." IRB.
Vol.17, no.4, pp.1-3
and vol.17 nos.5,6,
pp.1-8.
"Human
Genetic Research." (1993).
From "Protecting
Human Research Subjects:
Institutional Review
Board Guidebook" -
guidelines provided
by the National Institutes
of Health, Office of
Extramural Research,
Office for the Protection
from Research Risks,
1993. Chapter 5.H.,
pp.5-42 to 5-63.
National
Bioethics Advisory
Commission. (August
1999). "Research
Involving Human Biological
Materials: Ethical
Issues and Policy
Guidance." Volume
I: "Report and
Recommendations of
the National Bioethics
Advisory Commission." pp.
71-72. |
