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Genetic Information and the Family

by Bartha Maria Knoppers

Posted January 18, 2002  Issue 118
HMS Beagle
http://news.bmn.com/hmsbeagle/118/notes/feature1

Abstract

Nowhere are the principles of autonomy and privacy more frequently underscored
than in the context of modern human genetics. Fear of untoward socioeconomic
and psychosocial consequences of genetic knowledge has reinforced the need for
medical confidentiality. However, genetic information is necessarily familial and the
needs and interests of other family members cannot be ignored. The past decade
has witnessed a gradual move away from the status quo position of absolute
confidentiality, to an intermediary position of it being the duty of the patient, to a
position making it ethically permissible for the physician to warn in certain limited
circumstances. Founded on the principle of mutuality, this last position will
revolutionize not only the physician-patient relationship but also the modern,
nuclear family.
 
At a moment in history when globalization, pandemics, and the increasing
divide between rich and poor constitute humanity's major preoccupations,
what role is left for individuals, families and communities?
 
I would maintain that although confronting these staggering challenges remains
a priority, we must not neglect the ultimate source of change, that of each citizen
within his and her family and community. Although rarely seen as a tool for social
change or for greater equity in genomics, I would suggest that the availability
of human genetic information will revolutionize not only the physician-patient
relationship but also the social fabric of the modern nuclear family. Modern human
genetics might well spur the recreation of the genealogical family and thus foster
new obligations based on mutuality and not just on individual autonomy.
 
Nevertheless, fear of untoward socioeconomic and psychosocial consequences of
genetic knowledge has spawned a decade of statements and guidelines
underscoring the need to respect individual autonomy. Indeed, the rights to
privacy, to medical confidentiality, and to what some have called "genetic ignorance"
[1-3] have been reinforced by the genetic revolution. This is all the more paradoxical
considering that genetic information is familial. For that reason, I argue that although
the decision to be tested must be the sole perogative of the autonomous individual,
due consideration should be given to the needs and interests of other family
members.

To that end, I propose that we begin to develop the principle of mutuality
to promote the interests of others. This principle maintains the risk sharing and
risk spreading. In the context of genetic research, testing, and information, how
can it be interpreted? It could mean: (1) maintaining the status quo - that is, the
principle of medical confidentiality and individual autonomy where the risks are
minimal, or (2) an intermediary position of doing no harm or preventing harm through
the promotion of an ethical duty on the part of the patient to warn at-risk relatives,
or (3) through making it ethically permissible for physicians to warn at-risk relatives
when certain conditions are present.
 
The Status Quo Position
 
Since 1990, coinciding with the appearance of the first statements on the
ethical implications of genetic testing, there has been an ethical and legal
reinforcement of the duty of medical confidentiality. In the absence of a
legislative exception, the maintenance of such secrecy is not only sacrosanct
but is seen as essential to ensure the trust inherent in relationships of a
fiduciary nature.

Even this position does not go so far as to advocate total abstinence of
communication. It limits itself, however, to attempting to persuade the
patient to warn at-risk relatives even where the patient insists on full
confidentiality [4]. Indeed, the relatives are in no worse position with the
absence of warning because, strictly speaking, the patient does not "cause"
the genetic risk.

The patient might also be best situated to evaluate whether such at-risk
relatives would want to know. This position, however, presumes that modern
families are functional, live in close proximity and are aware of each other's
values and lifestyle preferences.

Furthermore, this status quo position totally ignores the unique character of
genetic information and shields individualism (however ill- or well-motivated)
from any form of familial or communal scrutiny. It is still the current norm,
although increasingly attenuated by an intermediary position.


The Intermediary Position

The intermediary position places a positive duty on the physician not only
to try to persuade the patient to communicate with at-risk blood relatives
but also to warn patients of its potential familial implications before taking
a genetic test. Indeed, this approach is strengthened in those countries,
mainly those of the Napoleonic tradition, in which vestiges of this "duty to
rescue" remain. Thus, the principle of to do no harm, together with the
duty to rescue, would hold that there is an ethical duty on the patient to
warn his/her relatives. Moreover, where patients do not want to exercise
this ethical duty, the physician may do so with the patient's consent [5].

Although this approach lacks the certainty and clarity of the status quo
position, it goes further in recognizing that the health and welfare of
others might be at stake. Together with encouragement from the
physician, it might well be sufficient in close families but, at best, it
would be arbitrary and uneven in its exercise. Finally, owing to its
discretionary nature, it could also become a tool of revenge in
dysfunctional families. Absent some cultural or religious imperative, in
reality, it might go no further than the status quo position. Hence, the
past five years have witnessed a move away from both the status
quo and the intermediary positions to that of mutuality.

The Position of Mutuality

 
In this way, a serious burden on others can be avoided. This position,
however, in no way advocates a legal duty to warn. For now such ethical
"permission" will at a minimum serve as a defence in a possible suit
for breach of confidentiality [6]. Nevertheless, it seconds the position
that between the human genome at the collective level being considered
the common heritage of humanity and at the personal level as being
unique and belonging to the individual, the information it contains is
also familial. The adoption of this translation of the principle of mutuality
with respect to genetic information will reinforce what the World Health
Organizaton (WHO) has maintained with regard to DNA samples which
it sees as subject to familial control [7].

In the situation of repeated refusal by the patient, four conditions must
be met before it is seen as ethically permissible for the physician to breach
medical confidentiality: (1) the condition in question must be serious with
(2) a high probability of occurrence, (3) in an identifiable blood relative(s)
and (4) prevention or treatment must be available.

In this way, a serious burden on others can be avoided. This position,
however, in no way advocates a legal duty to warn. For now such ethical
"permission" will at a minimum serve as a defence in a possible suit
for breach of confidentiality [6]. Nevertheless, it seconds the position
that between the human genome at the collective level being considered
the common heritage of humanity and at the personal level as being
unique and belonging to the individual, the information it contains is
also familial. The adoption of this translation of the principle of mutuality
with respect to genetic information will reinforce what the World Health
Organizaton (WHO) has maintained with regard to DNA samples which
it sees as subject to familial control [7].

In short, the very nature of genetic information, as both individual and
universal, now mandates its treatment as familial. The future availability
of inexpensive multiplex testing might allow routine individual knowledge
of thousands of mutations and so lessen the need to warn at-risk
relatives. However, at present, the acceptance of the principle of mutuality
in the sharing of information in families (and hopefully one day in whole
communities at risk), serves to reinforce the notion that we are literally
our brothers' keeper.

Finally, the sharing of genetic information could also serve to "normalize" it. If so, we can one day end the stigmatization and discrimination that is currently associated with genetic information and integrate it into modern medicine, as normal medical information in more caring and sharing families.

See Source: HMS Beagle for the referenced links in article
http://news.bmn.com/hmsbeagle/118/notes/feature1