This is the fourth of six case studies, prepared by the staff of CHA's Theology
and Ethics Department, scheduled to appear in Health Progress in 2003.
In 1994 a genetic test became commercially available for familial
adenomatous polyposis (FAP), an autosomal dominant disorder that causes colorectal
cancer if preventive surgery is not performed. The test can identify the mutation
in affected members of 80 percent of families with FAP; and, when the particular
mutation is known to exist in a family, the test can differentiate affected
from unaffected family members with virtually 100 percent accuracy. Appropriate
use of the test can confirm a diagnosis of FAP, justify surveillance with regular
colonoscopies, and aid in the surgical management of the disease. In addition,
negative test results in families with an identified mutation can exclude some
family members from invasive (and expensive) surveillance.
In March 1997, F. M. Giardiello and colleagues published research on a sample
of 177 patients from 125 families who had undergone testing two years before
(F. M. Giardiello, et al., "The Use and Interpretation of Commercial APC Gene
Testing for Familial Adenomatous Polyposis," New England Journal of Medicine,
March 20, 1997, pp. 823-827). The research assessed whether physicians had recognized
indications for the test and ordered it appropriately; whether informed consent
had been obtained for the test; whether genetic counseling had been offered;
and whether test results were accurately interpreted.
What did the researchers find? A high number (83 percent) of those tested
had valid indications for the test, which is not surprising since the tests
were ordered by specialists in the disease. Still, 17 percent of the tests had
been ordered for "unconventional indications," and, when so ordered, the positive
test rate was low. More worrisome was the finding that, although genetic counseling
before the test and informed consent to the test are considered essential, neither
had been done in about 80 percent of the cases. One-fifth of the presymptomatic
patients had the test before the precise mutation was identified in an affected
family member. This means that, for those patients, the test was useless. Finally,
one-third of the physicians involved would have misinformed their patients about
uninformative test results. If a mutation was not detected, the patients would
have been told that they were mutation-free, rather than informed that they
must continue surveillance. Since surveillance and early intervention are the
keys to saving lives in persons with FAP, this mistake could have been deadly.
Let's say that you have read this research. As a person with "colon cancer
in the family," you are somewhat concerned by it. A conversation with the hospital's
management team reveals that your facility has a sizable gastrointestinal practice.
You suspect what was found true in the research done by Giardiello, et al.,
(concerning informed consent for the test being ignored, etc.) might also be
true in your hospital.
Question for Sponsors and Board Members
How does the new science of genetics enter into the board's deliberations regarding
Questions for Executive Management
Which of your hospital's core values speak to the deficiencies that the Giardiello
team found in its research?
What mechanisms does management have in place to ensure the clinical quality
of new offerings by physician collaborators? More specifically, how does management
ensure that testing is appropriately ordered and that physicians are adequately
prepared to interpret results?
Has the executive team considered creating a position for a geneticist or,
at the very least, a genetic counselor? If genetic testing is occurring in your
facility and you do not have a genetic counselor, who is doing the counseling?
Is that person adequately prepared? Is there some testing being done without
Questions for the Ethics Committee
How much self-education has the ethics committee undertaken on ethical issues
in genetic testing?
One of the most egregious findings of the Giardiello team was the lightness
with which informed consent to testing seemed to have been taken, although informed
consent was identified as important. How visible is the ethics committee in
acting as an advocate for and educating about informed consent, particularly
with regard to new challenges posed by genetic testing?
Is the facility's informed consent policy sufficient to address genetic testing?
Guiding Ethical Principles
The following principle and norms are intended to provide some moral guidance
to discussions around the questions above. They are not exhaustive of those
that might be relevant to the case and the questions raised. They should, however,
be of some help.
Promote and Defend Human Dignity Because each person is created in
the image of God, each one is sacred and possesses inalienable worth, and is
social by nature and finds fulfillment in and through community. Catholic health
care, therefore, treats individuals—and their families and various communities—with
profound respect and utmost regard.
- Beneficence Our decisions and actions should contribute to the well-being
- Nonmaleficence Our decisions and actions should not harm others.
- Informed consent When making decisions about diagnostic and/or therapeutic
measures, individuals should have adequate information about the procedure,
sufficient understanding of that information, and be able to freely choose
to either accept or refuse the intervention.
- Stewardship Health care resources should be used prudently (appropriately,
efficiently and effectively) and justly.
- Justice Justice requires that people be given what is due them.
There must be equity in the exchange of goods and services (commutative justice).
CHA's Theology and Ethics Department would like to thank Carol Bayley,
PhD, vice president, ethics and justice education, Catholic Healthcare West,
San Francisco, for developing the case and questions used in this article.
New York State Task Force on Life and Law, Genetic Testing and Screening
in the Age of Genomic Medicine, Albany, NY. See the chapter on "Informed
Copyright © 2003 by the Catholic Health Association of the United States
For reprint permission, contact Betty Crosby or call (314) 253-3477.