Genetic Screening and Counseling is reviewed in this issue of Obstetrics and Gynecology Clinics, guest edited by Drs. Anthony R. Gregg and Joe Leigh Simpson. Authorities in the field have come together to pen articles on Contemporary Genetics Counseling: New Frontiers and Challenges, Newborn Screening, SMA Carrier Screening, Fragile X, Ashkenazi Jewish Screening in the 21st Century, Thrombophilia in Obstetric Practice, Microarrays in the Practice of Obstetrics and Gynecology, Cancer Genetic Screening, and Cystic Fibrosis.

Summary of Genes. Thirty years ago, the gene responsible for cystic fibrosis (CF), a recessive genetic disease caused by mutations in the cystic fibrosis transmembrane conductance regulator gene, was identified. This progress has considerably changed our understanding of the pathophysiology of CF and has paved the way for the development of novel and specific therapies for the disease. The CFTR gene contains 27 exons and is characterized by a frequent three base pair deletion of the p.Phe508del. As a result of collaborative work, today more than 2000 mutations have been reported in the gene, and their impact on protein function is now more evident and useful in designing new strategies to correct the gene defect. The field of gene therapy, as illustrated by Ziying Yan in this book, has worked on identifying an efficient vector system for the delivery of the wild-type CFTR gene to the lung. At the same time, animal models have been developed in mice, rats, rabbits, zebrafish, ferrets, and pigs to establish the efficacity of gene delivery. These animals are also of the utmost importance in testing new molecules as modulators or correctors to improve the CFTR lung function. During the last three decades, the epidemiology of CF has dramatically changed, as today cystic fibrosis is now a chronic adult pulmonary disease.

This landmark annual review has provided three decades of knowledge, insight, and research on topics critical to the continued advancement of the nursing profession. This latest edition is a compilation of the most significant nursing research in genetics and genomics. Articles have been carefully selected by the editors, highly respected scholars and researchers in the field of genetics, to bring together current research that has particular relevance for translation into a clinical setting or expansion into other research areas. The review provides authoritative information of the highest caliber not only to researchers, but also to clinicians and undergraduate and graduate nursing students. Key Topics: The current status of genomic molecular science Ethical, legal, and social issues in genomics Genetics of diseases and symptoms Genomics across the lifespan