Preface

The impact of genetics and genomics on understanding, preventing, and treating human diseases is undeniable. Clinical or research-based genetic testing is currently available for over 1,500 single gene diseases (www.genetests.org). Many of these are rare, not commonly seen outside of major medical centers or children's hospitals. The top causes of morality and morbidity in all ages (eg, coronary artery disease, osteoporosis, cancer, and hypertension) are complex (not single gene) diseases. These combine the effects of many genes working together or genes interacting with the environment. Nurses in all critical care settings see patients with chronic complex genetic diseases frequently.

Caring for the genetic health of our patients requires both an increased knowledge base and thinking about illness in new ways that include risk of present or future disease in family members as well as our patients. Nearly 50 nursing organizations have come together to publish Essential Nursing Competencies and Curricula Guidelines for Genetics and Genomics [1]. Genetics and genomics are both relevant and essential knowledge for all nurses.

This issue of Critical Care Nursing Clinics of North America provides articles covering foundational concepts and critical care applications of genetics and genomics. My own article begins the issue, presenting some basic tools, concepts, and terminology, to either refresh the reader's knowledge of genetics or bring up to date knowledge that has been out-paced by the rapid expansion of genetics and genomics following the Human Genome Project.

Dr. Hinton focuses his paper on the re-emergence of family history as a powerful tool in the critical care setting. He provides both basic content that is easily applied to practice and insights into the relevance of family history. Dr. Hinton offers the exemplar of family history in hypoplastic left heart syndrome based on his own clinical experience and laboratory research.

Several of the articles address genetics applications to specific sets of diseases. Dr. Zeigler reports current knowledge related to genetics and genomics and congenital heart disease. Drs. Workman and Winkelman discuss genetic and genomic influences in common pulmonary conditions, such as emphysema, bronchitis, and lung cancer. They also provide an overview of how genetic variants contribute to susceptibility and resistance. Dr. Fowler reviews the pathophysiology, diagnosis, and management of hereditary hemoschromatosis, which is the most common genetic disease in persons of European ancestry [2]. An update of the genes involved in common neurologic diseases, such as multiple sclerosis, stroke, and intracerebral hemorrhage, is provided by Dr. Alexander and Mr. Beach. Dr. Winkelman provides an overview of the genes associated with infection and inflammation and also discusses the research methods used to identify them.

The use of genetics and genomics in personalizing pharmaceutic selection and dosing is increasing. Drs. Prows and Beery apply the science of pharmacogenetics to the treatment of atrial fibrillation. They include the timely example of genetic testing for warfarin response and the recent increase in availability of testing. Their article also reviews the Essential Nursing Competencies and Curricula Guidelines for Genetics and Genomics [1] and uses these to frame a discussion of the nurse's role in using pharmacogenetics.

The final article poses ethical questions relating to the use of newborn testing for genetic disorders. Dr. Kenner and colleagues consider whether it is ethical to perform a newborn genetic test when no treatment currently exists. They refer to genetic information nondiscrimination legislation and the importance of including a family history tool as a component of neonatal assessment.

As the guest editor, I would like to thank the authors for contributing their expertise and energy to provide an issue that will not only update readers, but will also challenge nurses to enhance the care they provide to their patients. Genetic advances are reported in the lay press and consumers of health care are becoming more knowledgeable about genetics and are asking more challenging questions. Genetics and genomics provide a relevant and dynamic tool to improve the quality of care for the critically ill.