The advancement of cytogenetics
and molecular genetics have greatly contributed
to the development of human genetics. However,
on the other hand, it has been pointed out
that this new knowledge has raised some new
discussion points in addition to the bioethical
problems which existed until now. These points
are raised because of the fact that almost
all of the biological information of a person
is included in their genes, and using the
technique available at present it is possible
to determine a chromosomal abnormality and
mutant gene, and even to identify an individual
at gene level. The persons who are practicing
genetic counseling and medical care should
protect the basic human rights of the patient
and family, and must endeavor that they are
given appropriate medical care and support
so that they do not suffer from unfair discrimination
even if they have particular mutant genes
or genetic type. For this purpose we declare
to pay special attention to the following
articles.
- Genetic counseling should preferably be conducted
by a counselor (e.g. a medical doctor certified
as a clinical geneticist) who has sufficient
knowledge and experience of medical genetics
and counseling.
- The counselor must provide accurate and current
information to the visitor (from henceforth
called the counsellee), to their best ability.
This information includes the frequency,
natural history, risk of recurrence (genetic
prognosis), prenatal diagnosis, and presymptomatic
diagnosis, and carrier detection. The counselor
must use as easy language as possible so
that the counsellee can understand, and
must
record the content in the medical record
of the counsellee, as part of the history
of their genetic disease, and preserve
this
for at least five years.
- The rights of the counsellee and family to
know and to refuse the test (both the right
not to know and the right to not want to
know) must be respected. Therefore, the
treatment
and tests using live materials (henceforth
called a diagnostic test) is performed
according
to the decision making based on the autonomy
of the person who receives it (hereafter
called the subject), and should be done
avoiding
strong suggestion or guidance of the counselor.
- It is necessary to obtain informee!cyiseyuauy!conduct
testing. In that case, the information
including
content of the diagnostic test, method,
accuracy,
and risks must be precisely conveyed to
the
subject.
- In the case when the decision is made by
a surrogate representative, because the
subject
is judged to be unable to exercise autonomous
decision making, the decision for genetic
testing must be made protecting the best
interests of the subject.
- Even though a counsellee may desire genetic
testing, the doctor can refuse to provide
testing, if the request is against social
and ethical norms, or against their personal
principles.
- The personal genetic information related
to the individual that was obtained is
subject
to the obligation of confidentiality. Especially,
careful consideration is required in order
that the information is not used for discrimination.
However, in case that consent of the subject
to reveal that information is obtained,
if
the disclosure of information to a third
party will avoid risk to that person, and
the reason is judged to be serious enough,
the obligation of confidentiality can be
broken. Such an exception must be following
the judgment of the responsible ethics
committee,
not of only one person.
- Concerning prenatal diagnosis, it is possible
to suggest this opinion attached below,
considering
the present diagnosis technology and medical
standards. Following prenatal diagnosis
the
counselor should respect the subjects views
and should not be involved in this decision
making.
Attachment: Opinion on Prenatal Diagnosis
- Prenatal diagnosis which is done during the
first half of pregnancy can be considered
to be done when the fetus has a possibility
to have a serious genetic disease and highly
accurate diagnostic information can be
obtained
by a particular method. In addition to
cytogenetic,
biochemical, molecular genetic, and pathological
analysis methods which analyze amniotic
fluid,
chorionic villi, and fetal cells, and other
materials, instrumental diagnostic methods
focusing on the fetus are considered available.
- nvasive prenatal diagnosis using amniotic
fluid or chorion villus sampling is considered
for pregnancies in cases a-g below:
- Either of the couple is a carrier of chromosomal
abnormality.
- If there is a history or experience of giving
birth to a baby with abnormal chromosomes.
- Pregnancies with advanced maternal age.
- The pregnant woman is heterozygous for a
serious X-linked disease.
- Both of the couple are heterozygous for a
serious autosomal recessive disease.
- Either of the couple is heterozygous for
a serious autosomal dominant disease.
- In case of a risk of serious fetal abnormality.
- Except for the case of diagnosis of
an X-linked disease, the sex of the fetus
should not be revealed.
- Effort should always be made to improve the
accuracy of prenatal diagnosis technology.
Ichiro Matsuda MD
Kodo Saitoh MD
Kaoru Suzumori MD
Norio Niikawa MD
Yoshimitsu Fukushima MD
Norio Fujiki MD
Shiro Miwa MD
|
|