Greenwood Genetic Center, Greenwood, SC
(Senior Medical Geneticist, and Director of the Program in Medical Ethics)
Genetic Risk Assessment Service, Adventist Hinsdale Hospital, Hinsdale, IL
The history of medical ethics has provided, at various junctures,
focus on major principles such as justice, fidelity, autonomy, beneficence,
etc. When deontological (rule-based) perspectives received competition from
utilitarian (results-based) methods of analysis in the 19th century, changes
in emphasis helped pave the way for ethical assessment of the Darwinian, Mendelian,
Freudian and Einsteinian revolutions. Modern frameworks in medical ethics
have returned to principalism (which has its roots in the ancient Greek philosophical
tradition that directs our attention to the Good, the True and the Beautiful).
This in turn has conditioned much of the underpinning of genetics counseling,
with emphases on justice, beneficence and autonomy. The recent opening up
of oncogenetics offers an opportunity to revisit the insights of the past
and refine them for clinical oncology settings. There are important problems
and issues which arise in several contexts: intrafamilial dynamics, economic
concerns, professional qualifications, research settings, and most recently
As modern scientific insights deepen and strengthen our abilities
to discover and apply knowledge of the fundamental biological processes involved
in malignant neoplasia, there is a concurrent need for us to mine the humanistic
and philosophical meaning of the cancer experience and its social context.
This essay will explore some philosophical and theological foundations, and
modern applications, of medical ethics. The descriptive aspects of oncogenetics
(e.g. tumor-suppressor genes, proto-oncogenes, DNA mismatch repair genes,
autosomal dominant inheritance patterns with incomplete penetrance and variable
expressivity, genetic heterogeneity) are discussed elsewhere in the encyclopedia,
and a basic knowledge of those scientific materials is presumed in this treatment.
Ethics is the systematic study of norms and practices governing
interactions between persons, who are moral agents with rights and obligations.
The ethicist asks how people should act. While it may seem ideal to articulate
timeless answers to these questions, the process of addressing them is usually
conditioned by cultural and social context of the inquiring philosopher, so
that practical results typically are expressed in ways that reflect the religious
traditions and foundational assumptions of the writer.
The roots of modern ethics can be traced to early religious
traditions that began to take form in written documents nearly 3000 years
ago. During what has been called the “axial age”, a relatively
short period of several centuries, leading thinkers independently reached
very similar new insights regarding the role of the human agent, the conscience,
and the notions of duty, honor and responsibility. They rejected the animistic
magical explanation of events and the notion that divine agencies are capricious
or vindictive. They promoted the notion that individuals are obliged to maintain
a relationship axis by which they experience and participate in creativity
and righteousness. Thus the Hebrew prophets (Isaiah, ca. 770-685 BC; Micah,
ca. 760-700; Jeremiah, ca. 650-580 BC; Ezekiel, ca. 620-570 BC, etc.) in the
Mediterranean basin, Siddhartha Gautama (ca. 563-483 BC) in the Indian subcontinent,
and Han Fei-Tzu (ca. 551-483 BC) in China expressed convergent ideas without
having had any opportunity to know of each others’ teachings.
Soon thereafter, in another region of the Mediterranean basin,
Socrates (ca. 470-399 BC), his student Plato (429-347 BC), and his student
Aristotle (384-322 BC) developed strong intellectual foundations for ethical
thinking, probably without having any awareness of the teachings of those
earlier thinkers. The more religiously motivated teachings of Jesus (ca. 4
BC-29 AD) and Mohammad (570-632 AD) were founded largely on the same cultural
tradition to which Isaiah and the other Hebrew prophets had made their contributions.
As Europe languished in relative intellectual quiescence, the Islamists preserved
and treasured ancient Greek philosophical writings. Then, while their culture
was slipping into fundamentalism, Aristotle’s works were “rediscovered”.
The Jewish scholar/scientist/physician Moses Maimonides (1135-1204) conducted
seminal study and reflection on these materials. A conscious and systematic
effort to incorporate them into a Christian hermeneutic was undertaken by
several people at about that time, most importantly Thomas Aquinas (1225-1274).
He and Maimonides were, however, still unaware of the Buddhist and Confucian
lines of thought.
Rene Descartes (1596-1650) posited, as a starting point in
his search for a reliable method in moral philosophy, that all persons believe
themselves to enter every debate with an adequate deposit of common sense.
In other words, we can and should assume that on entering any debate, each
participant begins with good will and an interest in reaching a well reasoned
and “correct” conclusion. When we find this difficult to achieve,
he believes, it is not due to ill will or poor motivation, but rather to differences
in perspective. A modern reader might be tempted to think that Descartes was
expressing cynicism, but apparently he took this presupposition seriously.
It is intriguing to contemplate how different much human discourse might be
if we all genuinely and habitually employed this as a starting point for familial,
professional and political interactions!
Immanuel Kant (1724-1804) is the supreme adherent to deontology,
the normative ethical framework which is based on adherence to universal rules
of behavior, often received as religious revelation or dogma. He perceived
two things that consistently inspire awe and respect: the starry heavens above,
and the moral law within. He derived for us the “categorical imperative”
whereby a moral agent should never engage in any activity unless s/he is convinced
that all moral agents should always choose the same course of action. This
lofty expectation is, of course, not lightly achieved. Yet none of the serious
thinkers in religious or philosophical arenas has ever offered us easy virtue.
Plato’s eternal search for the Good, True and Beautiful is always demanding.
Gautama Buddha requires that the yogin, having achieved enlightenment, return
from blissful contemplation to the marketplace and manifest compassion on
others by teaching them to enjoy the same accomplishment. Jesus demands self-sacrificial
love. Mohammad mandates inclusiveness and a radical option for the poor and
Nineteenth century utilitarianism incorporated into the mainstream
of ethical dialogue some of the practical religious thinking embodied in the
tradition of “casuistry” that had been employed by 17th and 18th
century Jesuits (an order of Roman Catholic priests famed for scholarship)
to meet the challenges of the confessional. Casuistry has to do with discerning
probable, but not always certain, approximations of virtue in the application
of ethical principles to daily ongoing decision-making. The utilitarians evolved
an ethical analysis in which the greatest good for the greatest number became
the ruling principle. Seeking the greatest pleasure and the least pain (not
for the agent personally [hedonism], but for the whole population of those
involved in the decision and its outcomes) became the normative heuristic.
Out of this emerged the notion that the ends might justify the means, a formula
that is not attractive to most deontologists. However, consistent utilitarianism
also makes demands on the individual, who may be called upon for great personal
sacrifice. Popular 20th century American culture found this expressed dramatically
and explicitly in Mr. Spock’s suicidal actions to save the entire crew
of the Enterprise in the movie Star Trek II: Revenge of Khan. It has, however,
long been part of the high lore of warfare and chivalry, whenever one soldier
lays down his life to preserve the lives of his comrades.
A broadly based perspective that can take advantage of all
these traditions was possible only in the past century, when syncretistic
approaches to diverse cultural traditions could be achieved as a result of
improved transportation and communication. Albert Schweitzer (1874-1964),
a giant of theological and scientific scholarship as well as professional
and personal sacrifice, proposed an overall ethic of reverence for life that
sought to incorporate the strengths of a wide variety of preceding thinkers.
Syncretism always hazards being criticized for failing to adhere to or achieve
the highest purity in any given system of thought. Twentieth century popes,
theologians, and philosophers of many religious and secular schools, and sincere
secular-minded practitioners of health care with strong interest in seeking
the Good, have elaborated a broad and deep literature addressing the challenges
of ethics in a world imbued with techno-scientific instruments and opportunities.
Many of them strive to avoid any attenuation of their specific cultural and
religious contexts in that process.
Principalism has offered, in this context, a modern reconsideration
of normative ethical foundations applied to apparently new problems posed
by technology. The mantra of the principalist is “beneficence, non-malfeasance,
justice and respect for autonomy (the right to know about one’s risk
factors, and the right not to know things that one prefers not to address)”.
This heuristic has achieved broad acceptance in the community engaged in “bioethics”.
These four pillars for ethical analysis have found an important application
in genetic counseling, a paramedical profession which arose during the third
quarter of the century and which is focused on genetic decision making processes.
Today most professionals engaged in genetic counseling are masters-level people
with training in both psychosocial fields and applied genetics; most others
are medical geneticists (most MD, some PhD, some both).
Someone once noted facetiously that genetic counseling has
been with us as long as there have been in-laws anxious to assert “that
never happened in our family.” The more subtle, and so more readily
overlooked, errors in application of science to human challenges will often
take a form such as “the risk is only 6%, so you should not waste any
sleep over it.” If the empiric risk for some adverse event is “only
6%”, the meaning (medical, social, psychological, spiritual) for the
person at risk remains a function of the relative impact of the problem in
question. A 6% risk for a fractured finger is not equivalent to a 6% risk
for metastatic ovarian tumor. A 6% risk for male breast cancer associated
with carrier status of a mutation in the BRCA2 gene may be a matter of great
concern because such tumors often blind-side the patient who assumes his risk
to be essentially zero, so that he may have advanced disease before appreciating
a need for medical attention.
Consequently, effective genetic counseling must not only
quote the most scientifically based risk factors and explain the technical
aspects of heredity, but also travel the notoriously complex passages of self-image,
religious conviction, social obligation, and reproductive goals. All of these
can inhabit the psyche of the person at risk for (or already affected by)
such a distressing health problem as cancer. The effective genetic counselor
knows of all these hazards and develops the skills to assist patients in navigating
the troubled waters between them. Always and everywhere, the genetic counselor
maintains the self-discipline to avoid directing the decisions to those that
might best manifest his or her worldview, helping the patient to express personal
perspective and values in the process. The question “What would you
do in my situation?” is consistently met with the response “I
do not know, but let us explore how you might express your own views and needs
in a decision that fits your life.” Few physicians and nurses have had
the training opportunities to develop this peculiar skill, which is central
to the training of the genetic counselor and helps define that specific profession.
It also requires serious investment of time for the conversation, so that
it can occur in the full context of explicitly appreciating the patient’s
courage in facing the challenges involved.
Avoiding directiveness in genetic counseling is motivated
by dedication to the principle of autonomy, but it represents a utilitarian
bias because it eschews adherence to any pre-existing dictum or moral rule
by which decisions must be reached. So, a deontologist finds it difficult
to provide genetic counseling in the form that most modern medical professionals
have learned to perceive it. The closest most geneticists will allow ourselves
to come to directives and deontologic paradigms is that we will not perform
any action that appears to us to be malevolent or unjust. For example, seldom
will be agree to test minors for conditions that have late adult onset and
lack preventive strategies. Further, we are fairly strict in following protocols
for consultation and testing. For example, an unaffected person concerned
about risk for inheriting mutations in BRCA1 or BRCA2 will be urged to first
engage an affected relative in the process, to maximize the chance of identifying
a specific mutation in the family, but also minimize the risk that the affected
person might later learn of risk factors that s/he preferred not to address.
Thus, we always approach the issues at hand as being familial rather than
only individual matters; this has the advantage of building a communal context
for the conversation, but the dangers of being embroiled in long-standing
A woman with a strong personal and family history of breast
and/or ovarian cancer, who has already undergone bilateral mastectomy and/or
oophorectomy to manage her personal risks, will sometimes present for genetic
counseling and testing in order to provide useful information to her daughter,
sister, or other relative at risk of inheriting the same predisposing mutation
(if, in fact, such a mutation is demonstrable). The genetics professional,
having noticed that her personal management has been well directed and thorough,
does not repel her questions, but honors her stated interests. Meanwhile,
s/he makes it a habit to focus first on the patient’s own medical care,
and then derivatively on the potential benefits to those beloved relatives.
Thus beneficence and justice are honored along with respect for autonomy.
The core material of all ethical discourse is interpersonal
relationships. This has been paradigmatic since the axial age, when the early
sages taught that the quality of relations among persons is the foundation
of upright living, and reflects the stance an individual assumes before a
loving but demanding deity. It is not surprising, then, that genetic counseling
for cancer risk factors is directed often and intently on intrafamilial communication.
Principalism can be encountered as a bland recitation of four intuitively
apparent truths about human interaction, but in the pursuit of one principle
the counselor sometimes encounters collisions with the others.
Personal autonomy enshrines the right of the individual to
ask questions for whatever reason she wishes (as noted above), and also to
keep confidential the fact that s/he carries a deleterious mutation posing
high probability of tumorigenesis. However, the principle of justice motivates
informing relatives who are at risk for inheriting the same factor. Counselors
sometimes experience moral dissonance. As a prime example, a proband may refuse
to contact, or to grant permission for others to contact, relatives with whom
s/he has been at odds over a family dispute. The path of wisdom is not always
evident to the casual observer, but it is essential to find a balance between
nondirectiveness on the one hand and an instinctive sense of obligation to
invite an anger-harboring consultand to contemplate the larger contexts of
benevolence. In their monumental documentation of geneticists’ attitudes
around the world, Wertz and Fletcher (2004) surveyed many hundreds of practicing
medical geneticists and genetics counselors in 36 countries. They found (pp.
54 and 393) that 47% of American respondents would respect autonomy in the
setting of a mutation for Li-Fraumeni cancer-family syndrome and remain silent,
while 30% would divulge to at-risk relatives without permission of the proband
if asked, and 12% even if not asked. Worldwide, the results were 36%, 32%
and 17%, respectively.
Genetic counseling then overlaps with psychological counseling,
as the notions of forgiveness and the healing of relationships become a part
of the discussion that began with explanation of the technical significance
of frame-shift mutations and probabilistic analysis of variable expressivity
with incomplete phenotypic penetrance. So we learn to uphold and acknowledgement
the patient’s suffering, insight and foresight, generosity and creativity
in seeking knowledge that may better inform her own care and also the decisions
faced by her relatives.
Another challenge in this arena arises when familial relations
are strained in regard to the desire to investigate risk factors. A woman
anxious to know her status for an important mutation that has been documented
in her maternal aunt may find that her mother (who biologically attaches her
to that aunt) wants nothing to do with genetic testing. If the consultand
is tested and found to harbor the mutation, its route to her must have passed
through her non-consenting mother, whose blindness to the testing outcome
is almost impossible to achieve if the two have any contact. So the daughter’s
autonomy violates the mother’s and an injustice is perpetrated.
A woman preparing to determine whether she carries a predisposing
mutation, having grasped the importance of alerting the extended family to
the risk factor, asked what she ought to do about a cousin who is not actually
at risk since he was adopted…but does not know this detail of his own
origins and so presumes himself to be at risk. This is, of course, a special
case of the broader problem of non-paternity which is sometimes inadvertently
exposed when extended families are subjected to genetic testing in the pursuit
of risk factors. Aside from leaving him to continue behaving as though his
risk is elevated, it is difficult to discern what course of action could be
chosen justly and beneficently but still honor his autonomy.
Personal autonomy (the right to know about one’s risk
factors, and the right not to know things that one prefers not to address),
the demands of justice, the allure of beneficence, all converge in this arena
and challenge the counselor who confronts hard realities of individuals with
psychosocial difficulties, and families broken by old wounds. Thus, directiveness
prevails in our custom of arguing vigorously for communication with at-risk
relatives when a person has learned of a mutation but expressed disinclination
to advise siblings or others who are clearly at risk. We do this in the hope
of escaping the conflict of simultaneous dedication to the principles of autonomy
In venues that do not have universal health care coverage
as a right of citizenship, the cost of molecular testing in search of mutations
that place their carriers at high risk for malignancy is very significant.
Even when universal coverage is afforded, this may be adumbrated by policy
decisions which set the bar fairly high for determining eligibility.
The problem is exacerbated in those situations which involve
patents or other proprietary aspects of the testing process. The ethical debate
over appropriateness of patenting human genes or the processes for testing
them is not addressed in this essay, but is clearly worthy of considerable
attention; the present author considers such patents highly inappropriate
and contrary to the public good.
Significant efforts are sometimes demanded, from patients
and caregivers, to secure authorization under third party (insurance) payers.
Absent reliable insurance coverage of some kind, or unusual disposable income
that obviates concern about cost, there are important economic barriers to
seeking the presumably useful information that may be available in the laboratory.
Every time such a barrier exists, it constitutes a violation of the foundational
ethical principle of justice, since it prevents access of the poor to benefits
of technology enjoyed by the well endowed. Overcoming such injustice has innumerable
practical as well as theoretical challenges, but no ethical analysis is complete
without acknowledging this problem. Such problems are not specific to cancer
genetics, however, but are found in every aspect of health care. Indeed, distributive
justice is an arena of concern in all settings where there are populations
or individuals facing disadvantage in enjoyment of the world’s resources.
As in any highly specialized area of medical practice, consultations
for discussion and testing pertaining to genetic risk factors associated with
high probability of developing cancer should be undertaken only by persons
who have a thorough background in the field, and also the ability to maintain
familiarity with ongoing changes in that field. Change and growth of pertinent
materials in this area are unusually rapid. Consequently, such consultations
should not be undertaken by general practitioners, just as one would not wish
to have an appendectomy or cesarean section performed by someone who only
has occasion to do them once or twice annually.
Board certification by national or regional examination,
with appropriate continuing education, should be considered essential. A specialist
in clinical genetics, working with a nurse or counselor with expertise in
genetics or oncology or both, should be considered the highest standard. A
counselor or nurse with genetics credentials, collaborating with an oncologist,
would be the next best. Accepting less might flirt with the principles of
non-malfeasance and justice, whereby professionals have a duty to provide
the best reasonably possible care; in this setting that calls for a high level
of familiarity with the field and its ongoing developments.
There are several reasons for the above perspective. One
is the importance of thorough and insightful documentation of family history;
without a background in genetics, many would overlook the significance of
an endometrial tumor in a member of a family with several cases of colon carcinoma.
Another is the adequate preparation of the patient for testing, since a wide
range of emotional states may accompany results which reveal elevated personal
health risks and/or material that should be communicated to relatives. Yet
another is the complexity of the testing itself, and the delicacy of explaining
test results when they are confusing, technically complex, or anxiety-provoking.
Such considerations revolve around the fact that genetic
tests for cancer predisposition are highly complex not only in terms of laboratory
expertise (as reflected by their high cost) but also in terms of their impact
on the patient and the patient’s family. Thus the preparation for these
tests is proportionately more painstaking, whereas a routine blood count,
or monitoring serum level of antibiotics of anticonvulsants, calls for very
little advance discussion.
The usual issues of informed consent apply to this field
of investigation, as do the usual safeguards of privacy and of guarded access
to results that have not been certified by a licensed clinical laboratory.
The special case of inadvertent exposure of non-paternity is vexing but has
already been considered in other genetics arenas. Ethical issues that pertain
specially to cancer genetics research are not numerous. It is difficult to
imagine, for example, any committee for the protection of human subjects to
allow any genetics research to interfere with or postpone appropriate therapeutic
Existing literature and ongoing debate about the use of archived
specimens applies in the cancer genetics arena, but this arena does not introduce
new ethical concerns that are not already under consideration from other avenues
Probably the greatest danger of inappropriate professional
action in the cancer-genetics field is the premature release of new information
which might mislead the general public about availability of predictive, diagnostic,
or therapeutic modalities based on molecular genetic factors. Again, however,
this is not unique to cancer genetics.
Many middle-aged and elderly persons are seen for consultation
and testing to determine whether a predisposing mutation is associated with
their tumors. Often they express their interest as being motivated by concern
for clarification of risk factors facing their sons and daughters (though
the clinician’s first interest must always be the utility of this kind
of information to guide treatment and surveillance decisions for the patient
When those offspring learn that they have 50% risk of having
inherited a genetic risk factor, or when the proband is a person still in
the reproductive age range, one encounters the opportunity to apply the new
information to decisions about child bearing. Some people faced with such
materials will opt to forego offspring; some might turn to gamete “donors”
and/or surrogate parents. Few will give serious consideration to termination
of pregnancy after prenatal diagnosis of transmission of the mutation (since
such a termination involves an otherwise presumably normal fetus whose risk
for ill health is remote and poorly defined). Some who have the resources
and the motivation might employ in vitro fertilization followed by preimplantation
genetic diagnosis so that only embryos lacking the mutation are transferred;
this cleanly moves around the problem of termination for many people concerned
about maximizing the health of future children, but it still opens the window
on potential abuse of technology for election of traits that have nothing
to do with disease risks (“designer babies”).
Personal autonomy, which is always a central concern in seeking
informed consent for testing and for treatment, is especially important when
reproductive decisions are at issue. The beneficent practice of medicine might
motivate professionals to guide patients into decisions deemed of higher moral
content by the professional, but genetic counseling has a consistent emphasis
on autonomy as the overarching principle in such settings. This emphasis beckons
us into troubling territory when families elect to test a pregnancy for mutations
that pose an increased risk for cancer in the fourth and fifth decades of
All of these considerations are highly personal and sensitive.
They open the entire field of potentially controversial use of high technology
and seeking to control health risks by selecting genetic features in planned
offspring. This does not absolve professionals working in the cancer genetics
arena from introducing patients to the questions and working with them to
achieve answers compatible with their values and goals. In fact, the delicacy
of this material highlights the importance of all the other ethics concerns
in cancer genetics being treated with respect.
I am grateful for critical readings of drafts by CA Gennuso,
GF Guzauskas, PA Lebel, K Lee, RA Saul, RE Stevenson, and DL Van Dyke. Their
comments helped strengthen the final product but of course they should not
be held accountable for any of its weaknesses.