PREFACE
Medical genetics is a relatively new field of study.
The chromosomal basis of many recognizable syndromes, for instance,
was not known until 1958 when the underlying cause of Down syndrome
(trisomy 21) was discovered. In the 1970's and 80's it was possible
to catalog what was known about single gene disorders in a single
text. However, through innovative research in a number of different
fields, knowledge about genes and genetic disorders is expanding
at such a rate that catalogs of genetic disorders are now out
of date at the time of printing. The integration of basic research
and clinical application has spawned a new specialty in medicine,
Medical Genetics, which was officially recognized as a medical
subspecialty by the American Board of Medical Subspecialty in
1993.
Genetics is essential in many areas of medicine.
It is now possible to identify the presence of deleterious genes
and chromosomal abnormalities prior to implantation or birth.
The underlying cause of many syndromes and genetic disorders have
been identified and improved treatment strategies are being developed.
Genetic tests can also be used to establish a diagnosis or identify
gene carriers prior to the onset of symptoms. Additionally, DNA-based
molecular diagnosis is replacing or complementing routine laboratory
tests.
The role that genetics plays in the etiology of common
diseases has captured the attention of the general public. It
is not uncommon to peruse a popular magazine and find articles
on prenatal diagnosis, the genetics of breast cancer or the latest
in gene therapy. As our knowledge of medical genetics expands
and public interest in the subject grows, the challenge for health
care providers is to recognize individuals who might benefit from
a genetics referral, to share accurate information about the new
screening tests that are being developed for common and chronic
diseases, and to respond to the unique problems in the care of
patients and families with genetic afflictions.
Recognizing the importance of genetics in health
care, and the unique role that community health nurses play in
the delivery of health care services in South Dakota, the State
Department of Health has requested the Birth Defects Genetics
Center staff to conduct in-service training for CHNs on a number
of occasions. Given the high turnover rate of nurses and the limited
time available, a self-study guide was deemed essential. The goal
of this effort is not to create more genetic experts but rather
to provide health care professionals (social workers, nutritionists,
physical therapists, occupational therapists, nurses, nurse practitioners,
physicians, physician assistants, and educators) with the necessary
background information, skills and tools to recognize the need
for a genetics referral, identify area resources and provide supportive
care for individuals and families with a genetic disorder.
We would like to thank the South Dakota State Department
of Health for the inspiration, the University of South Dakota
School of Medicine for the support and the Great Plains Genetics
Service Network Education Committee for the resources to make
this curriculum a reality.
Virginia P. Johnson, MD Carol Christianson, MS
Professor, Medical Genetics Genetic Counselor