Encyclopedia of Health and Medicine

familial Mediterranean fever 125
DISORDERS, doctors and their patients grapple with
the ethics of both research and therapeutics. The
issues touch many of what have long been the
sacred tenets of the practice of medicine: privacy,
access to care, autonomy in decision making, and
protection against discrimination.
Privacy
Most health conditions, with the exception of
infectious diseases, affect only the individuals who
have them. Matters of diagnosis, treatment, and
prognosis remain private between physician and
patient (and, some would add, third-party insurers).
Genetic issues affect families, current and
prospective. Doctors, especially family practitioners
who care for multiple members of the same
family, may find themselves in conflict in regard
to genetic information about one family member
that affects the health or health prospects of other
family members.
Access to Care
Diagnostic and therapeutic applications of genetic
technology are both complex and expensive. Many
procedures are available only in research facilities
or are not covered by conventional HEALTH INSUR-
ANCE plans. People who participate in clinical studies
may have access to technologies that people
who choose not to participate in research cannot
have. As well, questions arise in regard to the relative
value of certain applications of genetic technology.
What purpose does genetic testing serve when
there is no treatment or cure for the genetic condition?
This is a particular issue for adults who may
carry GENE mutations for genetic disorders such as
HUNTINGTON’S DISEASE, for whom the disease is
inevitable if they have the MUTATION but for which
at present there is no means to mitigate symptoms
or the disease’s unpleasant progression, although
promising therapies may be available soon. Some
health experts argue that resources provide greater
benefit for the larger good when they go toward
conditions for which prevention, treatment, or cure
is possible.
Informed and Autonomous Decision Making
For as much as researchers have learned and now
know about human genetics there remain vast
unknowns about the potential benefits, risks, and
complications of genetically based treatments. In
2003 the US Food and Drug Administration (FDA),
which oversees clinical research and approves new
treatments, suspended certain GENE THERAPY methods
after people receiving apparently successful
results suddenly acquired lethal leukemias.
Informed consent, long the mainstay of treatment
decision making, is increasingly difficult to apply.
Other ethical issues arise in regard to making decisions
about genetic conditions that affect the lives
and circumstances of children or other family
members. Further concerns involve legal and
forensic applications of genetic information.
Discrimination
As technology provides ever-expanding knowledge,
concerns also grow that what people learn
about their health status could end up being used
against them in settings ranging from health and
life insurance coverage to job offers and even
medical care opportunities. Though such concerns
are not new, the inevitabilities of certain genetic
outcomes put discrimination concerns in new perspective.
For further discussion of medical ethics within
the context of the structures and functions of
genetics, please see the overview section “Genetics
and Molecular Medicine.”
See also CLONING; LEUKEMIA; QUALITY OF LIFE.
familial Mediterranean fever An inherited
genetic disorder that results in repeated episodes
of arthritis (INFLAMMATION of the joints), PERITONITIS
(inflammation of the membrane that lines the
abdominal cavity), pleuritis (inflammation of the
membrane that surrounds the LUNGS), and PERI-
CARDITIS (inflammation of the membrane that contains
the HEART). FEVER accompanies the outbreaks
of inflammation, which occur without apparent
precipitating factors and not in any particular pattern.
In some people the disorder also includes
AMYLOIDOSIS, in which deposits of amyloid (a waxlike
substance) accumulate in organs such as the
KIDNEYS.
Familial Mediterranean fever, as the name
implies, occurs predominantly among people of
Mediterranean descent and is an autosomal recessive
disorder. The responsible mutated GENE is on
the short arm of CHROMOSOME 16. At present there