Facts on File Encyclopedia of Health and Medicine

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 insur-
ers). Genetic issues affect families, current and
prospective. Doctors, especially family practition-
ers 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-
ANCEplans. People who participate in clinical stud-
ies may have access to technologies that people
who choose not to participate in research cannot
have. As well, questions arise in regard to the rela-
tive value of certain applications of genetic technol-
ogy. What purpose does genetic testing serve when
there is no treatment or cure for the genetic condi-
tion? This is a particular issue for adults who may
carry GENEmutations for genetic disorders such as
HUNTINGTON’S DISEASE, for whom the disease is
inevitable if they have the MUTATIONbut 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 THERAPYmeth-

ods 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 deci-

sions 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 knowl-

edge, 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 per-

spective.

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 (INFLAMMATIONof 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 con-

tains the HEART). FEVERaccompanies the outbreaks

of inflammation, which occur without apparent

precipitating factors and not in any particular pat-

tern. In some people the disorder also includes

AMYLOIDOSIS, in which deposits of amyloid (a wax-

like 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 reces-

sive disorder. The responsible mutated GENEis on

the short arm of CHROMOSOME16. At present there

familial Mediterranean fever 125