(Lesson 3- Table of Contents) (Next)
(Glossary)
As discussed previously, genetic counseling refers to the provision
of information regarding a genetic disorder or birth defect, the
implications for current health, future development or psychosocial
function, and follow-up care. It also refers to the provision
of information to the patient or parents regarding the risk of
occurrence or recurrence in future children and their reproductive
options.
The practice of medical genetics is similar to the practice of
general medicine in that an accurate diagnosis needs to be established,
and the prognosis and management, if any, needs to be discussed.
However, a major difference lies in the fact that the diagnosis
of a genetic disorder impacts not just the patient, but the immediate
and extended family as well. For instance, clinical evaluation
of family members may be necessary to establish a patient's diagnosis.
The recognition that a person has a particular genetic disorder
might also lead to the realization that other family members are
at risk.
Like a stone thrown in water, there is an ever widening circle
of people who are touched when a patient is diagnosed with a genetic
disorder. The diagnosis touches members of the immediate and extended
family. It may also send ripples through social service agencies,
the school system, the insurance and health systems, the community
and society in general. Following a genetic diagnosis, numerous
ethical and social issues may be raised. However, the main ethical
principles of medicine still hold: autonomy, privacy, beneficence
and non-malfeasance, and justice.
AUTONOMY
The concept of nondirective counseling is well accepted in the
genetics community. The genetic counselor is an information provider,
not a decision maker. Information is presented in a neutral and
nonjudgmental manner, and the patient/family is expected to make
their own personal, medical and reproductive choices.
By the same token, participation in screening and counseling programs
(e.g., carrier testing for Tay-Sachs disease, carrier testing
for hemoglobinopathies, prenatal MSAFP screening for NTD, etc.)
should be voluntary. All pregnant women, for example, should be
given the option of MSAFP screening. They should not, however,
be required to undergo testing.
The exception to this voluntary testing rule is newborn screening which is currently mandated in most states. Laws governing newborn screening are based on the belief that the state has a duty to protect the interests of minors, and that newborn screening seeks to identify a disease or condition (e.g., PKU, sickle cell anemia, hypothyroidism) for the purpose of treatment and the prevention of severe disabilities.
CONFIDENTIALITY
Confidentiality (privacy) is a major tenet in medicine. Therefore,
medical information is, as a rule, only provided to the patient
or, in the case of minors, to their parents.
In the majority of genetic cases, the patient or the parents are
more than willing to inform at-risk family members about the diagnosis
and to encourage them to seek carrier or presymptomatic testing.
However, on occasion, a patient will refuse to inform at-risk
family members based on the fear of stigmatization by relatives
or based on an underlying family dysfunction.
As a genetic counselor's primary duty is to the patient, the patient's
decision not to inform at-risk family members must be respected.
There are, however, rare situations where this confidentiality
may be abridged: when reasonable efforts to elicit voluntary disclosure
have failed, when there is a high probability of serious harm
to an at-risk relative that can be averted by the shared information,
and when appropriate precautions are taken to share only what
is absolutely necessary for the diagnosis and treatment of the
disorder. In situations such as this, consultation with an ethics
review board is usually requested.
Another area of concern is the handling of stored tissue samples
(e.g., filter paper blood spots for newborn screening, or DNA
that has been banked for family studies). It has been suggested
that these tissue samples be studied to determine the incidence
of specific disease genes in the population. If tissue samples
are used for this purpose, researchers are debating whether all
of the identifying information should be removed so that it would
be impossible to provide a person with an unsolicited presymptomatic
diagnosis. Other researchers argue that restricted codes should
be used so that people can be contacted if they are found to carry
a specific gene, especially if disease prevention through intervention
is possible.
A third major issue is the conflict that will certainly arise
between individuals and their employers or insurance companies.
People who choose to pursue presymptomatic testing for such conditions
as breast/ovarian cancer or Huntington disease will obtain information
about themselves that may also be of interest to a third party.
Loss of employment or insurability is a fear that can cause individuals
to forego genetic testing. Because of the potential for misuse,
information derived from genetic testing should only be shared
with the implicit consent of the patient.
BENEFICENCE AND NON-MALFEASANCE
Simply put, another tenet of medicine is attempt to do good and
avoid harm. Occasionally, in the process of a genetic evaluation,
incidental information comes to light. For example, nonpaternity
may be uncovered when DNA studies are done. As a rule, this information
is not voluntarily shared with a couple. In a separate setting,
the mother is made aware of the test findings. If she acknowledges
the nonpaternity, recurrence risks are quoted for her and each
partner. If the mother denies nonpaternity, further testing may
need to be done to rule out uniparental disomy.
Withholding information about nonpaternity is done with the intent
of avoiding marital conflict and harm to the family unit. Genetic
counseling simply guarantees the provision of information that
is sufficiently complete and reasonably accurate to allow the
parents to decide on a course of action. For example, if the child
has a recessive genetic condition and his putative father does
not carry this gene, the mother and the putative father are told
they have a low risk of recurrence. The mother is also told that
the recurrence risk with the biologic father is 25%. In this scenario,
withholding information does not negatively impact the parents'
reproductive decision.
With the advent of presymptomatic screening, there is the real
risk of harm to the patient (e.g., depression and suicide in the
HD patient), to his or her social standing (e.g., stigmatization
by the community), and to his or her economic well-being (e.g.,
loss of employment or insurability). All of these issues are discussed
as part of the informed consent process when a person is considering
participation in a genetic screening program. Included in Appendix
D is a protocol for presymptomatic HD testing. It was distilled
from protocols used in other programs nationwide and from the
Huntington Disease Society of America guidelines.
JUSTICE
In genetics, justice refers to fairness, or equal access to new
genetic services. Rural residents are often at a disadvantage
when compared to urban residents, as new tests are developed in
medical research facilities in major cities and may not be immediately
available to people outside the larger metropolitan areas. Cost
is also a major concern, especially in the early stages of development,
before a process/procedure is considered standard of care. As
insurance systems are not eager to cover the cost of new tests
or genetic diseases (often lifelong, chronic conditions), the
state systems may be pressed to provide coverage. Conflicts may
then arise between individual privacy and autonomy and the state's
right to mandate policies for the good of society.
SUMMARY
Unlike most medical services where care is provided to a single
person, genetic services are provided to individuals (for diagnosis
and management), to family members (for risk counseling or presymptomatic
diagnosis), and to the population in general (for carrier detection
or newborn screening). With the shift away from the discrete doctor-patient
relationship, some unique ethical and social issues arise. Knowing
what some of these unique issues are will help you prepare your
patients for a genetic evaluation and address some of the concerns
they may have following testing.