PRINCIPLES AND TECHNOLOGY
ISSUES FOR ALL LIFE STAGES
Towards the End of Life
Specific Responses to Euthanasia
Specific Responses to Organ Transplantation
Prenatal Genetic Testing
Specific Responses to Prenatal Genetic Testing
BIOETHICS, MEDICAL TECHNOLOGIES
AND THE HEALTH
OF CANADIANS: SOME POLICY CONSIDERATIONS
Canadians are confronted
almost daily by media stories about technological interventions in medical
science and their potential or actual effect on the health of human beings.
Each story alerts the general public to some dilemma resulting from increased
understanding of human biology and raises questions with respect to decisions
on applying technology to people. "Human Trials of Gene Therapy Begin"
opens a story about Canadas first trials to insert altered genetic
material into human subjects in an attempt to battle two deadly forms
of cancer. "A Gift of Life - and Death" headlines an article
examining the ethical dilemmas surrounding the use of fetal tissue transplants
to treat Parkinsons disease, Alzheimers disease, diabetes
and AIDS. A column entitled "Can Anencephalic Babies Be Used As Organ
Donors?" asks whether an infant born without a brain but with other
viable organs can be medically defined as dead.
In general, the application
of technology to human beings has given society the ability to create
life, to improve life, to sustain life and to prolong life. In Canada,
as in many parts of the world, it is now accepted as routine that human
infertility can be bypassed, genetic defects detected, organs transplanted,
and individuals kept alive. These powers have ineritably led to questions
about when and how and for whom life will be created, improved, sustained,
and prolonged. Canadians are beginning to ask about the impact - short-term
and long-term, negative and positive - of such practices for individuals,
communities, and the broader society. In all of these areas, consideration
of the human dimension of the decisions is vital.
Public discussions regarding
the use and potential misuse of biological knowledge frequently seek to
link the use of medical technologies with individual and societal values.
Efforts to ascertain what social, cultural and legal values are common
among the numerous groups comprising Canadian society are ongoing. It
is recognized that there are various views of the significance of birth
and death and of when it is appropriate to begin or to end treatment.
As the following paper suggests, Canadians are beginning to assess the
particulars of their cultural milieu, to identify the diverse concerns
and to develop approaches that reflect a broad consensus.
The link between human values
and medical applications dates back several thousand years. More recently,
there have been systematic efforts to study human conduct in the area
of life sciences and the ethical problems arising from biological research
and its applications in areas of human health. In particular, the moral
values and principles supporting or refuting the application of certain
technological practices to human health care are increasingly being examined
in public debates, in parliament and in the courts. This paper focuses
on some Canadian approaches to related policy questions on practices affecting
various stages of life, from genetic testing and organ transplantation
to euthanasia and assisted suicide.
PRINCIPLES AND TECHNOLOGY
Discussions of the ethics
of human biology used to be largely the preserve of physicians and academics.
Now, ordinary members of the public are increasingly involved in assessing
how bioethical principles affect decisions respecting technology use and
people. While many continue to talk about microethics or "bedside
ethics," where individual patients and families make decisions in
conjunction with individual physicians, there is growing recognition that
these decisions within Canadas health system are affected by the
macro, or wider social ethic.(1)
Within Canada as elsewhere,
these discussions are guided by certain principles. Many participants
refer to the so-called "trinity" of principles: autonomy, beneficence
and justice. Autonomy is seen as encompassing self-determination, personal
liberty and freedom of choice. Justice is tied to the overall question
of fairness, of equitable distribution of scarce resources. Beneficence
seeks to ensure that any intervention is for the benefit of the patient
and that a technological procedure is being done out of concern for the
patients welfare and not for experimental, economic or other reasons.
In 1993, the Canadian Royal
Commission on New Reproductive Technologies (RCNRT) identified eight principles
that it argued should guide public policy decisions that go beyond a doctor
and patient relationship. The RCNRT list included individual autonomy,
equality, respect for human life and dignity, protection of the vulnerable,
non-commercialization of reproduction, appropriate use of resources, accountability,
balancing individual and collective interests.(2)
While all the principles are relevant to both the individual and the broader
society, the first four principles are situated more in the realm where
individuals exert an influence on policy while the last four have broader
societal implications for health policy.
Although these principles
were developed in relation to reproductive technologies, they could apply
to many other areas of intervention in health and medical care policy.
For the RCNRT, individual autonomy means that people are free to choose
how to lead their lives; equality means that every member of the community
is entitled to equal concern and respect; respect for human life and dignity
means that all forms of human life, including human tissue, should be
treated with sensitivity; and protection of the vulnerable means that
those less capable of looking after themselves or open to exploitation
should be given special consideration.
With respect to the second
four RCNRT principles: non-commercialization of reproduction means that
it is wrong for decisions about human reproduction to be determined by
a profit motive; appropriate use of resources recognizes the existence
of diverse needs and finite resources and refers to the need to provide
programs, procedures and technologies according to clearly defined public
policy priorities; accountability means that those holding power have
a responsibility to regulate and monitor technologies in a way that ensures
respect for societal values, principles and priorities; and balancing
individual and collective interests emphasizes that both these interests
are worthy of protection, with one not automatically taking precedence
over the other.
This list of RCNRT principles
confirms that decision-making in areas affecting human biology requires
careful and thorough deliberation by those who develop policy. Various
organizations have been established in Canada, mostly in the last decade,
to advance the understanding of ethical questions prompted by biological
research as awareness of the issues has moved beyond the academic and
professional sphere into the broader public.
The first bioethics centre
in Canada, the Centre for Bioethics at the Clinical Research Institute
of Montreal, was established in 1976. Since that time, other centres,
such as the Westminster Institute for Ethics and Human Values associated
with the University of Western Ontario and the Centre for Medicine, Ethics
and Law at the University of McGill, have been founded. In 1987, the Medical
Research Council developed guidelines for research involving human subjects.
By 1988, the Canadian Bioethics Society, was created by a merger of two
existing groups to promote research and teaching in the area. In the same
year, the National Council on Bioethics in Human Research was created
under the sponsorship of the Royal College on Physicians and Surgeons
to interpret and promote all existing guidelines on the ethics of biomedical
and health-related research involving human subjects.
ISSUES FOR ALL LIFE STAGES
As biological and social
research has developed, a wide range of ethical questions has arisen,
affecting all stages of human life. At the beginning of life there are
issues of conception, use of embryo and fetal tissue, abortion, prenatal
diagnosis, genetic counselling and screening, fetal therapy, and neonatal
care. At the end of life are issues such as care of the dying, termination
of treatment, and assisted suicide. In the middle stages of life, topics
raised include organ transplantation, contract motherhood or surrogacy,
genetic screening and access to various procedures.
Canadian writers have outlined
more fully the areas during a persons life when bioethical considerations
would need to be addressed.(3)
At the beginning of life, concerns arise when people cannot conceive a
child and reproductive technologies are available; when people fear giving
birth to a malformed child and genetic counselling, prenatal diagnosis,
and fetal therapy are available; when people do not want a child and abortion
or adoption are available; when people are unable to look after children
because they are intellectually disabled and sterilization is available.
At other stages, when human
health and life are threatened, concerns arise when a new epidemic such
as HIV/AIDS appears; when people are diagnosed as mentally ill and undergo
psychiatric treatment; when patients are old, and caring becomes problematic;
when the effects of new treatments are unclear; and when limited resources
must be fairly allocated.
At the end of life, the
use of life-prolonging treatment may be questionable and decisions to
withhold or withdraw treatment may be necessary; people may ask for death
through euthanasia; and, as in organ transplantation, the death of one
person may mean life for anothers.
In the sphere of public
policy, many biomedical practices are currently the focus of attention.
Some of these involve the use of technology to sustain or to change an
individuals health status. Of these, some, like those involving
genetics, are fairly new, while others have either become routine or have
been discussed for many years. The following discussion
explores some of the difficult questions surrounding
euthanasia, particularly when medical technologies can be used to
continue or to terminate life. In addition, it
looks at the more routine practice
of organ transplantation and the newer
practices of prenatal genetic testing.
Towards the End of Life
Many types of intervention
may affect the end of life. In past generations, both children and adults
usually died at home, often in the full knowledge that they were going
to die. Now, they are more likely to die in hospitals or other institutions
where drugs, medical devices, and procedures for prolonging life are readily
available and where decisions about dying are often removed from their
control. Decisions about when to extend, when to withhold and when to
withdraw treatment to sustain or prolong life now involve the affected
individuals, family members, health care professionals, and, increasingly,
Euthanasia has become an
important element of discussions about dying. While generally described
as an act of mercy, as "the practice of putting to death persons
who are suffering from incurable or malignant diseases," it has various
dimensions depending on who carries out the action that causes death.(4)
Others have categorized euthanasia as active or passive, voluntary or
involuntary and as involving different decisions revolving around the
principle of free and informed consent. Thus, in involuntary euthanasia
someone is put to death without his or her consent, for example when life-sustaining
treatment is withheld or withdrawn. Voluntary euthanasia takes place when
a person requests that life-sustaining treatment or life be ended. Active
euthanasia involves performing a deliberate death-inducing act, and passive
euthanasia involves the cessation or withdrawal of life-prolonging treatment
For many, withholding or
withdrawing treatment is not the same as euthanasia and assisted suicide.
The Special Senate Committee on Euthanasia and Assisted Suicide advanced
the following definitions. Assisted suicide is "the act of killing
oneself intentionally with the assistance of another who provides the
means, the knowledge, or both."(5)
Euthanasia is defined as "the deliberate act undertaken by one person
with the intention of ending the life of another person in order to relieve
that persons suffering where that act is the cause of death."(6)
Euthanasia was seen as being voluntary when done in accordance with the
wishes of a competent person, non-voluntary when the persons wishes
have not been made known, and involuntary when done against the wishes
of a competent person.
The populations generating
the focus on euthanasia are varied. They include critically injured patients
who, because of emergency response services, have survived traumas that
would otherwise have killed them but have been left with permanent brain
damage or paralysis. They include people suffering from chronic or incurable
diseases such as Alzheimers Disease, AIDS, or cancer, adult individuals
with congenital defects that are no longer tolerable to them, and afflicted
infants and children whose parents recognize the real and potential difficulties
in their lives.
Four factors at the base
of current policy are seen as contributing to support for euthanasia.
These include the tendency of the medical community to accept a simple
biological paradigm in dealing with death; the emphasis on health promotion
over care of the sick individual; the increased focus on efficiency and
cost containment; and the failure of medicine to help survivors of debilitating
illness and their families. According to one physician, these factors
allow euthanasia to be seen as simple, painless to the patient, economically
efficient, liberating of societys resources for health promotion,
and a way of providing an escape hatch for individuals saved by medicine
and subsequently entrapped in unbearable lives.(7)
For policymakers as for
the general public, euthanasia in any form poses many questions pertinent
to the rights of individual patients. The need to serve the public interest
by providing a high standard of care to the community may simultaneously
conflict with the need to protect individual patients and their right
to control their own treatment. Health care professionals and family members
can easily find themselves promoting a situation considered undesirable
by the affected individual.
Certain rights to refuse
life-prolonging medical treatment have become established in Canadian
law, reflecting a greater emphasis on dignity and quality of life than
on the rigid insistence on sustaining life at all costs. The distinction
has narrowed between the "extraordinary" life-prolonging measures
such as cardiopulmonary resuscitation, respiratory support, chemotherapy,
haemodialysis and the more "ordinary" provision of food and
water. It is argued that "the real issue is whether any intervention,
regardless of its being a measure of basic or advanced life support, is
proportionate to the goals of each individual patient."(8)
The goals of the individual
and the goals of the larger society may still be at odds, however. In
a case where an individual demands rare and costly treatment to sustain
life, a publicly funded health care system like Canadas would decide
whether the demand exceeded the ability of the system to meet it. Questions
may arise about whether a societal consensus must be upheld over certain
individual rights. In the case of Sue Rodriguez, a woman suffering from
amyotrophic lateral sclerosis (Lou Gehrigs disease) who challenged
the prohibition against assisted suicide, the majority of judges at the
Supreme Court of Canada argued that the prohibition reflected a consensus
in Canadian society that respect for life must be supported over individual
choice.(9) In the case of
a newly born and very fragile infant in a neonatal intensive care unit,
the question arises as to who has the right to decide a course of action
or inaction; hospital administrators, physicians, nurses and parents may
reach different conclusions over what is in "the babys best
2. Specific Responses
Responses to this issue
have come primarily from the medical and legal communities and, more recently,
from parliamentarians. In addition to the 1993 Rodriguez case in the Supreme
Court, other cases have been decided at the provincial level. Through
the Canadian Medical Association, Canadian physicians in 1995 developed
a policy position on physician-assisted death. In the 1990s, several Private
Members Bills were introduced in the House of Commons asking for
amendments to the Criminal Code to allow assisted suicide and from
February 1994 to June 1995, a Senate Committee studied euthanasia and
For physicians, several
questions arise. Does a patient, after being properly informed of a proposed
treatment, have the right to accept it or reject it in order to die a
dignified death? Should a doctor help a person who is incapacitated and
in pain to die? For many observers, making death a treatment option for
physicians changes the whole patient-doctor relationship. The Canadian
Medical Association in 1993 provided guidance to its members in a series
of papers that examined some of the ethical, legal and social concerns
from a physicians perspective. In 1995, the CMA published a policy
statement summarizing the position of its members on physician-assisted
suicide. It urged them to adhere to the principles of palliative care
and not to participate in euthanasia or assisted suicide.(10)
For the legal profession,
one issue is the need to protect vulnerable groups while at the same time
defending the right of individuals to make their own decisions. The Law
Reform Commission of Canada in a 1983 report identified widespread consensus
on three basic principles reflected in law: the protection of human life,
the right to autonomy and self-determination in decisions about medical
care, and the recognition that human life has both quantitative and qualitative
aspects.(11) On the question
of legalization of active euthanasia, the Commission identified a number
of problems, including the possibility of incorrect diagnosis, the possible
discovery of a cure, and the possibility of abuse. It also noted that
procedures developed to allow people with terminal illness to end their
lives could also be used to remove those considered to be a burden on
society. A major concern was the difficulty in ensuring that a persons
consent to euthanasia was free and voluntary. Similar views were expressed
by the Canadian Bar Association in its submission to the 1995 Special
Senate Committee on Euthanasia and Assisted Suicide.
When the Special Senate
Committee on Euthanasia and Assisted Suicide studied this issue, it received
testimony from a wide range of groups and individuals representing palliative
care specialists, medical ethicists, health care professionals, social
workers, lawyers, and affected individuals. It examined the issue from
various perspectives looking at physical, psychological, and financial
reasons for euthanasia; at methods such as withholding treatment, withdrawing
treatment, and self-induced death; at the issue of competency and at advanced
directives or "living wills." It urged all levels of government
to make palliative care a priority. It argued that the practices of withholding
and withdrawing life-sustaining treatment should be clarified in law.
On assisted suicide, the majority of the Committee favoured retaining
the provision of the Criminal Code that proscribed aiding and abetting
suicide. It recommended that voluntary euthanasia and non-voluntary euthanasia
remain as criminal offences but with imposition of a less severe penalty
where mercy or compassion was an element. Involuntary euthanasia was to
continue to be treated as murder under the Criminal Code.(12)
In Canada, euthanasia has
been addressed in legislative prohibitions, in various court cases and
in policy statements by professionals. Such considerations as informed
consent to medical treatment, the right to refuse medical treatment and
the right to privacy are part of broader public discussions. The question
of whether the courts are the best arena to deal with general standards
relating to "best interests" is still subject to debate. Some
have argued that even when euthanasia is prohibited as a criminal offence,
it could be practised if certain guidelines developed through court decisions
were followed. It is suggested that legislation on the reporting procedure
for euthanasia could guarantee immunity from prosecution to physicians
following specified procedures.(13)
Canadians pondering the
relationship between the value of life and the reality of death must take
into account the influence of our current publicly financed system of
health care on end-of-life decisions. On the question of withholding or
withdrawing life support, differences between attitudes in Canada and
the United States have been subject to scrutiny. It has been suggested
that in Canada, where resources are allocated on the basis of medical
need and potential benefit, physicians have a stronger say in the final
decision. Conversely, in the United States, where the Intensive Care Unit
is a major source of income for hospitals, patients and families have
the stronger voice in choosing extraordinary care and also in withdrawing
life support if they desire.(14)
As the rationing of health care services comes more to the fore in health
policy discussions, the implications of decisions made towards the end
of a persons life deserve full and informed consideration by the
1. Organ Transplantation
Organ transplantation is
now carried out on a routine basis in all major medical centres in North
America and Europe. In organ transplantation, tissues are removed from
one human body and implanted in another, where the transplanted tissue
is expected to perform its previous function. The most common organic
materials donated or sold by people are the renewable ones of blood and
sperm. In terms of non-renewable organs, the kidney, being bilateral,
was the first to be transplanted from a living subject. Preservation techniques
have now made it possible to establish banks for bone marrow, eyes, and
As the demand for donated
organs grows, so does the expense of the medical procedures involved.
In the United States, it is estimated that a transplant procedure can
cost $200,000 or more and the continued use of anti-rejection drugs following
the procedure add even more costs. This has led to major international
debate concerning "the justice of major publicly supported investment
in transplants while a more significant public health result would be
yielded by investing in disease prevention, health promotion, and supplying
basic care for large populations."(15)
Thus, ways to reduce the demand for organ transplantation through health
promotion and disease prevention becomes important to any policy examination
of scientific and medical developments in this area.
Different concerns arise
when donations are generated by the death of a person, by removal of healthy
organs from a living person, or by an aborted foetus. On the bioethical
considerations surrounding organ transplantation, it is argued that "they
concern every step of the process from donor recruitment to recipient
selection and involve issues of justice (equitable treatment), beneficence
(for whose good is the procedure carried out) and autonomy (the preservation
of free choice for all concerned)."(16)
On autonomy rights, such
as self-determination, personal liberty, and freedom of choice, it has
been noted that the next of kin must make decisions for the recently dead
adult donor, and the recently pregnant woman must make decisions for the
aborted fetus; such decisions must be made free of undue persuasion or
coercion. Organs or tissues taken from any source raise the prospect of
commercial gain and possible exploitation. Stories of Canadians who have
paid cash for organs from individuals in less developed countries emerge
from time to time and prompt questions about how such practices can be
controlled. Even though buying human organs is outlawed in most countries,
it continues as a lucrative underground practice. In British Columbia,
the provincial Transplant Society, which coordinates organ transplants
and distributes anti-rejection drugs, has argued that the province should
force any person who bypasses the provincial system in order to obtain
an organ to pay for the necessary anti-rejection drugs.(17)
It argues that such sanctions are needed to give policymakers a role in
controlling the collection and distribution of body parts.
Justice rights are viewed
as tied to the overall question of equitable distribution of scarce resources.
They include the right of equitable or just access to organs or tissues,
whether adult or fetal, that are needed to sustain life. These rights
also include equal freedom from coercion in obtaining necessary organs
or tissues. Given the high costs associated with extending life through
organ transplantation, access is often beyond the reach of individuals
in many parts of the world. One question is whether age is in itself an
acceptable reason for refusing organ transplantation to a patient. Another
concern is whether people who have adopted a lifestyle that damages their
organs should be allowed to be candidates for replacement organs. For
policymakers, who are obliged to be both humanitarian and financially
responsible, assuring unlimited provision of such medical care is fraught
Beneficence rights seek
to ensure that the procedure is for the sole benefit of the patient, in
other words is motivated by concern for the patients welfare and
not by experimental, economic, public relations or other interests. In
the case of organs or tissues obtained from living donors, the question
of different needs for different patients is problematic. The conception
of a child for the express purpose of providing potentially life-saving
tissue for a child already living raises questions about which patients
welfare is to be the primary consideration. Use of fetal tissue has generated
widespread public discussion about whether and how a decision for abortion
can be separated from decisions about the use of the fetal tissue.
Specific Responses to Organ Transplantation
Internationally and nationally,
responses to the issue of organ transplantation have taken various shapes.
In most studies, legislative solutions are seen as an essential component
of protecting the rights of both donor and recipient. Legislative questions
include whether individuals should be permitted to decide the disposition
of their own organs after death and, in the absence of such a decision,
whether the family can decide. Should donation of fetal tissue or organs
be allowed? Should the sale, purchase or brokerage of certain adult organs
and of fetal tissue be prohibited? Should legislation or codes of conduct
be developed to address the issue of transplantation of cadaveric organs
and tissues? Should every country have comprehensive regulations to cover
such issues as delays in organ retrieval, donations from minors, commercialization,
and compensation of donors for related costs?
The development of guidelines
has also been explored. At the international level, in 1987 the World
Health Organization recognized the need to develop guidelines on organ
transplantation and called for a study of the associated legal and ethical
issues. The concern was to ensure the rights of both donor and recipient.
The Guiding Principles endorsed in 1991 prohibit giving and receiving
money, except for payment of expenses incurred in organ recovery, preservation
and supply. The Principles prohibit removal of organs from the body of
a living minor except for regenerative tissues. They emphasize the need
for freedom from coercion and for informed consent. Reproductive tissues
(ova, spermatozoa, ovaries, and testicles), embryos, blood and blood constituents
are not covered by the guidelines.(18)
In Canada, organ transplantation
is fully funded by provincial health insurance plans. In June 1995, controversy
erupted in Alberta when it was learned that Alberta Health had paid about
$500,000 for a baby to have a heart transplant in the United States although
a pediatric transplant service existed in Edmonton. Most provinces have
policies that out-of-country funding for such procedures will be covered
only if the service does not exist within the province. In the Alberta
case, procurement of organs was problematic as it has been in other provinces.
In 1989, the Uniform Human Tissue Donation Act was developed by
the Conference of Commissioners on Uniformity of Legislation in Canada.
The provinces have equivalent Acts to regulate procurement and use. In
1992, the Law Reform Commission of Canada issued a working paper on the
procurement and transfer of human tissues and organs.(19)
The focus was on questions about legal reforms that might alleviate perceived
tissue scarcity and on whether selling body parts or substances was an
acceptable means of increasing the supply. At the data collection level,
the Canadian Organ Replacement Register, a joint project of the federal
and provincial governments, provides statistics that allow comparisons
among provinces and facilitate decision-making in health care.(20)
One barrier to increasing
the supply of donated organs is the difficulty of obtaining consent. "Presumed
consent," the idea that, unless donation has expressly been refused,
organs are considered to be available, has been suggested as a possible
method of increasing the supply of organs. It has been noted that countries
such as Belgium, France, Austria, which have presumed consent laws, transplant
more organs per million people than do Germany, the Netherlands, and the
United Kingdom, countries seen as culturally, socially and economically
similar, but that lack presumed consent laws.(21)
To consider organ donation as a routine procedure was seen as possibly
reducing autonomy and altruism but as alleviating the current burden of
decision borne by relatives and physicians.
Recently, Organ Sharing
Canada, a body set up by the Canadian Transplant Society and the Canadian
Association of Transplantation, called for a national agency to coordinate
the distribution of donated organs.(22)
This could ensure uniform standards for donor screening, standard guidelines
for listing transplant patients, and equal access to available transplants
on a national, rather than the current provincial, basis. In response,
the provincial deputy ministers of health have asked their advisory committee
on health services to review the situation in relation to organ transplants.
1. Prenatal Genetic
Genetic research and its
applications have evolved rapidly over the last few decades. The human
genome project is one endeavour that demonstrates the nature of movement
in the area. It is a major international attempt to determine the structure
and the location of an estimated 100,000 human genes. In 1992, Canada
joined the project, which already involved the United States, Japan, France,
Britain, Germany, Denmark and Italy. The goal of research teams around
the world is to collect information on DNA in human cells with the hope
that it will provide an understanding and eventual cure of many genetic
diseases. When the information is collected, policy makers must understand
how and when any applications of the information will be used and who
will be involved.
For the Canadian public,
there is a concern that the complexity of the area, combined with limited
interaction between researchers and practitioners, will restrict any efforts
to have public input into articulating and acting on the ethical concerns.
In consultations, individuals and groups "expressed fears about what
the rapidly increasing capacity to detect genetic make-up would mean for
their work opportunities, how they live, and particularly, the health
care they receive and their options with respect to reproduction."(23)
The use of genetic knowledge and technology in relation to human reproduction
is a major area of concern, particularly with respect to prenatal diagnosis
of disorders that are present at birth or begin in childhood and presymptomatic
or predictive testing for genes that may affect a persons health
later in life.
In Canada, prenatal diagnostic
services are provincially funded. In 1990, more than 22,000 women were
referred for prenatal diagnostic tests at the 22 genetic centres. About
78 percent of the referrals were made because the woman was over 35 years
of age, a factor associated with increased risk of chromosomal disorder.(24)
While the exact cost of these procedures is not known, they do involve
expensive highly specialized equipment and personnel. One of the pieces
of information provided through the testing is the sex of the developing
In considering, prenatal
diagnosis for congenital anomalies and genetic disease, two terms require
clarification. Congenital anomalies are those evident at birth, or now,
with the use of imaging and diagnostic techniques, that are evident in
utero and are linked to chromosome or genetic defects resulting from
external environmental influences passed on through the father or mother
at conception or while in utero. Genetic disease, on the other
hand, is present at conception and is inherited from one or both parents
as a result of derangement of the hereditary material of chromosomes and
The diagnostic tests or
techniques developed to determine whether the fetus has a congenital anomaly
or genetic disease include amniocentesis, chorionic villus sampling (CVS)
and specialized ultrasound. Amniocentesis, the most common procedure ,
is normally carried out between 15 and 17 weeks of pregnancy, when fluid
containing fetal cells is removed from the uterus and analyzed for chromosomal
disorders, genetic metabolic disorders or neural tube defects. In chorionic
villus sampling, a sample of the fronds extending from the fetal membranes
into the uterine wall are extracted and analysed. Specialized ultrasound
involves a detailed examination of the fetus lasting up to an hour and
can diagnose many congenital anomalies. Before these procedures were introduced
into obstetrical use in the 1970s and 1980s, accurate diagnosis of congenital
anomaly or genetic disorders was not possible. Now, new PND technologies,
including methods that involve diagnosis at the preimplantation stage
and diagnosis using fetal cells found in the blood of the pregnant woman,
are rapidly being developed.
For prenatal diagnosis for
late-onset single gene disorders and for susceptibility genes there are
two different types of testing. Late onset single gene disorders, which
may be recessively or dominantly inherited, include Huntington Disease,
a disorder resulting in progressive mental and physical deterioration;
adult polycystic kidney disease, leading to a progressive reduction in
kidney function; and retinitis pigmentosis leading to progressive loss
of vision. Susceptibility genes are those whose presence suggests that
an individual may be more susceptible than others in the general population
to a certain disease such as cancer, cardiovascular disease and mental
illness. The Royal Commission on New Reproductive Technologies noted in
1993 that "no such prenatal testing for susceptibility genes is being
done in Canada at present, but there is a limited amount of adult testing
of members of families with a history of a disorder."(26)
New developments in DNA
technology have made it possible to determine whether a fetus carries
a particular gene responsible for genetic disorders. This presymptomatic
testing can reveal whether a person is destined or is highly susceptible
to a disease many years before symptoms appear or a clinical diagnosis
is made. Thus, people who inherit the defective gene for Huntingtons
disease, a condition that shows up between 30 and 45 years of age, females
with a predisposition for breast cancer, and African-American sickle-cell
carriers can all be identified early in life.
Prenatal diagnosis will
not provide all the answers about the present condition or the future
health of a developing fetus but as a technology it has a powerful influence
on peoples decisions. Some authors have argued that this early knowledge
and identification can lead to a greater emphasis on preventive measures
and interventions. Thus, people with a genetic susceptibility to coronary
heart disease could alter their diets, increase their physical activity
and have their cholesterol levels checked regularly. The question of what
form the prevention will take becomes very important, however. Cancer
provides one important example. Prevention for females with a breast cancer
gene might mean removal of all breast tissue in early life before any
cancer manifests itself; if links are made between the cancer and exposure
to certain chemicals present in workplaces around the world, prevention
might mean exclusion from employment. These different possibilities for
prevention reveal that presymptomatic testing might be applied in potentially
negative as well as positive ways. The potential for genetic discrimination
through breaches of individual privacy and confidentiality is also a concern.
Specific Responses to Prenatal Genetic Testing
Canadian efforts to assess
the safety and effectiveness of new prenatal diagnostic technologies used
in genetic centres took place at an early stage. In 1974, a joint effort
on the part of the Genetics Society of Canada, the Canadian Paediatric
Society and the Society for Obstetricians and Gynaecologists of Canada
resulted in the first national guidelines for the delivery of prenatal
diagnostic services. In 1976, the Medical Research Council supported a
collaborative multicentre trial of amniocentesis that demonstrated its
safety and effectiveness and contributed to the establishment of international
standards for the procedure. Continued efforts to collaborate on clinical
trials have been successful.
However, this type of effort
on the part of professional organisations was not enough to satisfy the
Royal Commission on New Reproductive Technologies, which raised many questions
in its Final Report and in the accompanying research documents. It concluded
that the federal government as the guardian of the national public interest
must put boundaries around the use of new reproductive technologies. It
recommended the establishment of a regulatory and licensing body - a National
Reproductive Technologies Commission - composed of 12 individuals from
a broad range of backgrounds. Under this system, prenatal diagnosis services
would be provided only by licensed facilities with national standards
established and monitored through the licensing system. Thus, Canadians
would be assured that genetic knowledge applied to human reproduction
would be applied in an accountable way and within acceptable limits.
In June 1995, the federal
Health Minister took a tentative step when she called for a voluntary
moratorium on nine reproductive and genetic technologies and practices,
including several that relate to prenatal diagnosis.(27)
She argued that it was ethically wrong to carry out procedures for non-medical
purposes, such as performing chorionic villus sampling, embryonic biopsy,
amniocentesis or ultrasound after conception in order to determine the
sex of the fetus, which might then be aborted if the sex was not satisfactory.
Similarly, she opposed the performance of germ-line genetic alteration
of a fetus diagnosed as having a severe single-gene disorder or in an
attempt to alter or enhance particular desired qualities, such as intelligence.
According to the Health Minister, using genetic technologies in this way
does not reflect Canadian values; threatens human dignity; represents
serious health risks; and treats women and children as commodities. She
proposed an interim moratorium until a permanent management regime could
Biomedical research and
its technological applications have the potential to change the face of
society, to affect not just health but also access to a high quality of
life. This is particularly the case if the research and applications provide
knowledge that sets certain individuals off as being different from others
and provokes measures that may exclude them from receipt of certain services.
For legislators and policymakers concerned about the way scientific and
medical discoveries are applied to human biology in the name of better
health, many dimensions must be taken into account when developing relevant
administrative and legislative initiatives.
Full articulation of bioethical
principles, including an understanding of autonomy and justice, freedom
from discrimination and from harm, and the balancing of individual and
collective interests, is an important first step. But it is only a beginning.
Initiatives that allow for extensive public debate on the relevant medical,
social, economic, and legal implications of biological developments must
be encouraged and supported. Many participants focusing on separate areas
have recommended a national approach and in particular a national agency
that would coordinate and monitor developments in the application of medical
technology to human beings. Whether a single agency would be capable of
covering the numerous concerns raised by the use of scientific and technological
interventions is not yet clear.
In a country like Canada,
where both the development and the application of biotechnologies are
tied to a publicly funded health care system, several questions arise.
How do we decide which technological practices to support? Can we distinguish
between practices that are truly preventative and aimed at overall personal
well-being and those that are curative and aimed at repairing something
that has gone wrong. How do we ensure that people of every socio-economic
status and ethnic origin have access to valuable medical practices? What
potential battles may develop between individual and collective rights?
Canadians will grapple with these questions as they apply their collective
wisdom to deciding on the role they want technology to play in their health
and their lives.
Nuala Kenny, Chairperson, Values Working Committee, National Forum on
Health, Minutes of Proceedings and Evidence of the Standing Committee
on Health, Issue 23, 21 February 1995, p. 7.
Royal Commission on New Reproductive Technologies (hereafter RCNRT), Proceed
with Care: Final Report, Government Services Canada, Ottawa, 1993,
David Roy, John Williams, Bernard Dickens, Bioethics in Canada,
Prentice Hall Canada, Scarborough, Ont., 1993.
Margaret Smith and Sandra Harder, Euthanasia
and Assisted Suicide, CIR 91-9E, Research Branch, Library of Parliament,
Senate of Canada, Of Life and Death: Report of the Special Senate Committee
on Euthanasia and Assisted Suicide, Ottawa, June 1995, p. 51.
Ibid., p. 75.
James Gordon, "Describing the Slippery Slope," Presentation
to the Senate Committee on Euthanasia and Assisted Suicide, 1994.
Roy, Williams, Dickens (1993), p. 384-392.
Smith and Harder.
"CMA Policy Summary: Physician-Assisted Death," Canadian
Medical Association Journal, 15 January 1995, 152(2), p. 248A-248B.
Law Reform Commission of Canada, Euthanasia, Aiding Suicide and Cessation
of Treatment, Report 20, Ottawa, 1983.
Senate of Canada (1995).
Smith and Harder.
A. Whittaker, letter on withdrawing life support in Canada and the United
States, American Medical Association Journal, 2 August, 1995, p. 5.
Eugene Brody, Biomedical Technology and Human Rights, UNESCO and
Dartmouth Publishing, Aldershot, England, 1993, p. 97.
Ibid., p. 99.
Holly Horwood, "Buyers of Organs May Get Drug Bill," The
Province (Vancouver), 31 January 1995, p. A6.
Brody (1993), p. 115.
Law Reform Commission, Procurement and Transfer of Human Tissues and
Organs, Working Paper #66, Ottawa, 1992.
Pauline Copleston et al., "The Canadian Organ Replacement
Register," Health Reports, 6(4), March, 1995, p. 457-68.
Aaron Spital, "The Shortage of Organs for Transplantation, Where
Do We Go from Here?," New England Journal of Medicine, 325(17),
24 October 1991, p. 1245.
Clare Mellor, "National System Urged to Coordinate Organ Transplants,"
Chronicle Herald (Halifax), 1 November 1995, p. 4.
RCNRT (1993), Vol. 2., p. 733-734.
Ibid., p. 757.
Ibid., p. 746.
Ibid., p. 871.
Health Canada, "Health Minister Calls for Moratorium on Applying
Nine Reproductive Technologies and Practices in Humans," 27 July