wrote the first edition of this book more than
20 years ago, and the discoveries in genetics
since then have been phenomenal. The new
knowledge and applications of human genetics to
health and to society have made it even more necessary
that nurses "think genetically" in their practice
and, indeed in their lives. Genetic factors can
be responsible in some way for both direct and
indirect disease causation; for variation that determines
predisposition, susceptibility, and resistance
to disease and also for response to therapeutic
management. Genetic disorders can be manifested
initially at any period of the life cycle. In addition,
improved detection, diagnosis, and treatment have
resulted in the survival into adulthood of persons
who formerly would have died in childhood and
who now manifest common adult problems on a
background of specific genetic disease. Genetic disorders
have an impact not only on the affected
individual but also on his/her family, friends, community,
and society. Genetic variation is important
in response to medications, common foods, chemicals
that comprise pollution in the environment,
and food additives. Genes determine susceptibility
to complex common disorders such as cancer,
heart disease, diabetes mellitus, Alzheimer disease,
emphysema, mental illness, and others. Genetic
risk factors are also important in preventing disease
in the workplace.
Nurses in virtually all practice divisions and
sites can therefore expect to encounter either individuals
or families who are affected by genetic disease
or are contemplating genetic testing. Nurses
must be able to understand the implications of
human genetic variation and gene-environment
interaction, as well as overt disease, as they assist
clients in maintaining and promoting health, and
preventing and treating disease. Each person has
his/her own relative state of health, and not all persons
are at similar risk for developing disease
because of variation in genetic makeup, for example,
in regard to cancer. Thus, optimal planning,
intervention, and health teaching in the appropriate
educational and cultural context for a given
client or family must make use of this knowledge
in order to be effective. It is with these points in
mind that the third edition of Clinical Genetics in
Nursing Practice was written. This third edition is
even more of a labor of love than the prior editions,
and provides current information while
maintaining a reasonable size and scope.
Nurses and other health professionals generally
are still not educated in genetics. This educational
deficit presents a barrier for receiving optimal services
when it occurs in the consumer but is even
more serious when it is present in those individuals
providing health services. As far back as 1983, there
was a call for the inclusion of genetics content in
the curricula of Schools of Nursing, Medicine, and
other health professions. With the efforts spearheaded
by the National Human Genome Research
Institute, National Institutes of Health, through the
National Coalition for Health Professional Education
in Genetics (NCHPEG), attention has been
focused anew on the need for health professional
competency in genetics. Today genetics is a topic
discussed widely in the lay media—therefore health
professionals must be able to understand this
material and use it appropriately in their practices.