In the summary the document states in essence:
Informed consent is required
for all genetic research using linkable samples unless conditions
for limitation or waiver
are met.
Informed consent is not
required for genetic research using anonymous samples but may be
considered if identifiers
are to be removed from currently linkable samples.
IRBs could usefully review
all protocols that propose to use samples for genetic research.
And as can be found in almost
all publications, further work is needed.
The discussion of issues in this paper takes the
form of a “he said-she said” debate. For example: Some have argued that
anonymizing samples without a participant’s (source’s) consent is ethically
acceptable. Others argued that anonymizing samples without consent is problematic
because researchers had an opportunity to seek consent but did not exercise
it.
At the end of the article, the recommendations for
existing samples simply say that:
1) If you want to test a person’s DNA, and you know
whose DNA it is, you should ask for
consent.
2) If you want to make the samples anonymous, you
should first ask yourself some questions
such as is it practical
to do this in another way? Will you use up a specimen that the person
may need later, for example,
a surgical specimen that is needed to determine if certain
mutations are present?
Of course, the two recommendations are greatly oversimplified.
The first point does not make the distinction between the complexity of
asking for consent to test for relatively benign polymorphisms that have
a small impact on risk for disease, with risk depending on other genes
as well as environmental factors and the genetic mutations that will almost
ensure that a person will develop a disease within their lifetime. The
first case will entail little risk for loss of insurance, psychological
distress, and social stigmatization, and the second case will require pre-test
and post-test counseling because of these substantial risks. The differences
in risk make blanket consents for many types of gene testing problematic.
The article that appeared in JAMA did more to bring
the debate to a new level of consciousness for health care professionals
and the public than to resolve all of the issues. For example, one issue
that has proved problematic for many is a statement on anonymous testing:
“Samples are not anonymous if it is possible for any persons to link the
sample with its source. Even if the researcher cannot identify the source
of tissue, the samples are not anonymous if some other individual or institution
has this ability.” Since the article appeared, many professional societies,
advocacy groups, and government agencies have developed recommendations
on use of stored tissue samples for genetic research, and members of Congress
have written legislation to address these issues.
The solutions that will be ultimately adopted will
depend, to some degree, on who pays for genetic testing and health care.
If loss of insurance is not a risk of testing, consent will require less
complex counseling. However, genetic testing for single gene disorders
such as cancer mutations will still require extensive pre-test and post-test
counseling because of the danger of psychological distress, whether the
test is positive or negative, and the risk of social stigmatization which
cannot be obviated by legislation.