BY: CAROL BAYLEY, PhD
Dr. Bayley is vice president, ethics and social justice education, Catholic
Healthcare West, San Francisco.
The Third Pair of Articles in a Series about the Significance of Genetic
Science for Catholic Health Care
An Ethical View
Jeffrey Shaw's introduction to cancer genetics (p. 31) describes a future in
which advances in genomics make possible new diagnostic tools and therapeutic
agents and vectors. But the ethical issues it raises are familiar ones, even
if set into a new context. What is the right relationship between efforts to
improve individuals' health and efforts to improve the health of a population
as a whole? How will physicians learn the skills needed to educate patients
in a way that secures truly informed consent? How will insurance plans fairly
meet their obligations to their shareholders to circumvent avoidable risk, as
well as their obligations to those they insure to help them escape financial
disaster if they get sick? Many of these questions puzzle us right now. But
let's look at how the same questions may puzzle us in new ways in light of Shaw's
descriptions.
Old Issues, New Questions
Someone famous said, "To a hammer, the world looks like a nail."
When you have only one solution, the temptation is to frame every problem as
one amenable to that solution. The hammer here is genetic testing, and the information
it may yield about an individual's cancer risk. The temptation may be to
focus attention and direct resources to risk identification and reduction in
certain individuals at the expense of attention and resources that might be
devoted to environmental contributions to cancer risk. These latter interventions
may be larger, slower, and more diffuse opportunities. But, as Shaw points out,
most cancers are sporadic (not inherited) and most genetic mutations result
from repeated exposures to carcinogens in the environment. At a time when resources
are limited, we should carefully consider whether individual or population screening
for certain cancers is a better or worse use of our money than is cleaning up
our air and water, or figuring out politically and economically workable solutions
to industrial wastes that we already know contribute to cancer.
Of course, the challenge here is to configure our finances and accounting so
that the relationship Shaw describes between environmental carcinogenic exposure
and increased cancer risk is clearer, in economic terms, than it is at present.
Otherwise, we will continue to hit the nail of cancer with the only hammer we
have.
Another old ethical issue in new genetics clothing is that of informed consent.
This issue has at least two facets. First, as Shaw points out, we are beginning
to differentiate cancers not just on the basis of where in the body they occur,
or by cell type, but also by aggressiveness or risk of metastasis. This means
that there is another layer of information that both patients and the public
in general will need so that their choices for testing and treatment are as
informed as possible. As Shaw notes, most cancers, because of the nature of
repeated carcinogenic exposure over a lifetime, tend to occur in people over
50. For obvious reasons—wear and tear and the nature of aging—this
is also the time when other ills strike, such as heart disease, diabetes, stroke,
and dementing illnesses such as Alzheimer's and Parkinson's. Some
cancers, although easily treatable with genetically targeted pharmaceuticals,
may become the next generation's "old man's friend," as
pneumonia once was. We will need to remember that the human condition is eventually
100 percent fatal, making our choice not whether to die, but of what. Even when
cancer therapies become as simple as antibiotics are now, we will still need
to decide, on the basis of solid information about the risks of treatment and
potential alternatives, whether to undergo it. Information sufficient to make
that informed choice will be provided by physicians, whose skills in facilitating
decision making on the part of patients may need a new level of sophistication.
Privacy and Insurance Issues
A second issue in informed consent concerns the subject(s) of what was once
understood to be a purely individual process. When my gallbladder is acting
up yet again, my physician may recommend its removal. Under some circumstances,
I may consider the effect of having surgery on those around me—can I miss
work right now? who will look after my kids?—but I may not.
But with many kinds of genetic testing for familial predisposition toward cancer,
my decision to be tested actually involves either the testing of other individuals
in my family, or the gaining of knowledge that doesn't apply to me alone
but to my parents, siblings, and children as well. This is not just a question
for physicians to comprehend, obviously; genetics counselors and the test-seeking
public should understand it, too. We may also need some public deliberation
and the establishment of standards—standards perhaps similar to those for
the old-fashioned kind of informed consent—that will more adequately meet
the challenge of informed consent to genetic tests.
Concerning therapies, Shaw also points out the difference between new, focused
pharmaceuticals, on one hand, and the scattershot approach that is currently
the norm, on the other. Right now, for most cancer treatment, all patients with
a particular cancer get a particular protocol, even though it helps only a certain
percentage of them. As genetic assessments become more precise and pharmaceuticals
are tailored more for subgroups of cancer patients, this blanket approach will
likely change to a more targeted one.
Such a shift already allows the 20 percent of children with acute lymphoblastic
leukemia who will not benefit from the standard therapy to be spared its burdens.
The ethical challenge will be to try to make certain that financing and reimbursement
keep up with the complexity of therapeutic options. If a low-cost standard therapy
helps most people, but an expensive therapy, targeted for the small percentage
of cancer patients with a particular genetic mutation, is extremely effective
for this smaller number of patients, will health insurers be allowed to deny
payment for the expensive therapy based on the aggregate calculation?
Predisposition and Disease
Another insurance-related issue is the transformation of the very concept of
disease, traditionally indicating a sick person exhibiting signs and symptoms
of a certain constellation, but which, thanks to the new medicine, will come
to signify presymptomatic, non-sick people who happen to have a certain genetic
profile. To a degree, we are already functioning in this new paradigm of disease.
Patients are started on statins because of a certain lipid profile, not because
they have symptoms of heart disease. People with a particularly low T-cell count
and high viral load begin HIV cocktails, staving off, rather than waiting for,
an opportunistic infection. "Early intervention" is earlier than even
a single symptom.
In this new paradigm, the knowledge of impending doom is accompanied by an
effective intervention. If the time comes that people with a particular genetic
profile are thought of as actually having the particular disease, it will not
necessarily be because an early intervention can prevent sickness. It may just
be a designation that may then morph into that dreaded label "preexisting
condition," which, in the present system, can prevent a person from qualifying
for health insurance or may discourage a person from switching insurance (or,
in some cases, jobs).
Such a person can be found to be uninsurable by a company understandably seeking
to reduce its liability for likely health care costs. I can imagine an ironic
twist on this situation: A person who, because of a particular genetic makeup,
is insured against everything except the one thing for which he or she is most
at risk.
There Is No Such Thing as Normal
Clearly, this issue is most pronounced in the arena of genetic testing. Testing
represents a question, the answer to which is often presumed: Is more knowledge
always better? Many physicians and genetics counselors and some patients think
so. Even if no therapeutic choice can be made on the basis of it, some people
will want a cancer genetic test "just to know" and to plan their lives
accordingly. Others will find an excess of knowledge paralyzing and burdensome.
Often the test is performed without adequate informed consent, and with no attention
given to the possibility that the person tested will be burdened—not empowered—by
the particular knowledge the test yields. The question should be asked: "What
will you do differently on the basis of the knowledge you gain from this test?"
If the answer is "Not much," patients will need stronger protection
from the "Let's just find out first, and decide that later" mentality.
Such protection is both an issue for individual physicians and counselors in
relationships with patients and a policy issue for government and commercial
insurers recommending tests and footing the bills.
One final ethical opportunity in the insurance realm is brought to us by these
advances in genetics—which, although they do not concern cancer only, are
perhaps especially apropos here because so many people are affected by some
form of cancer. If there is one thing we have learned more or less conclusively
from the Human Genome Project, it is that no one of us is "normal."
We are all so slightly different that the "standard" genome had to
be a composite. Nor is any one of us "perfect," genetically speaking.
It is estimated that, in each of us, somewhere around eight percent of genes
are deleterious. All of us are genetically flawed. This simple fact should,
besides engendering humility in us, also persuasively make the case that we
need a medical care plan or insurance scheme that works for everyone, since
everyone is at risk and none of us is at fault.
The advances in cancer genetics are not on the way; they are here. Much of
the impulse to study ethics comes from an awareness that technological progress
often outstrips our ability to ask the right moral questions about the direction
of progress and its implications for human flourishing. The ethical questions
raised belong to all of us and bring us new responsibilities.
Both patients and potential patients (that is, all of us) must develop
a kind of genetic literacy, so that we understand the difference between likelihoods
and certainties, predispositions and clear diagnoses. Doctors need the knowledge
and skills to recommend tests wisely and interpret them accurately; these skills
are necessary not just for those who are specialists but also for the primary
care physicians who will deal with the "worried well." Insurance companies
need to wrestle with their (possibly conflicting) responsibilities to stockholders
and to patients, in order to be fair to both. Both the medical community and
the insurance industry need to guard against a tendency to designate people
possessing a particular genetic makeup as already diseased, since doing so will
be neither accurate nor therapeutically helpful.
Finally, as citizens we should call upon our leaders to design a health care
system in which our genetic profiles and other accidents of our birth do not
determine our access to health care or the quality of care we receive.