The Human Genome Project and Women Cystic Fibrosis: A Case Study

Abstract

Cystic fibrosis (CF) was recently examined in a study funded through the ethical, legal, social issues (ELSI) program of the Human Genome Project for the purpose of determining the possible differential impact of new genetic technologies on women. This article presents an overview of genetic, clinical, and psychosocial information about CF with a focus on gender differences as they relate to the new genetic technologies. CF disadvantages both men and women in pulmonary and gastrointestinal disease manifestations, but there are major gender differences with regard to reproduction and probably in caregiving as well. The new technologies will have significant implications for women with CF, mothers of children with CF who are known carriers, and women who are potential carriers of this common genetic disorder. We conclude that advancements in medical science in the last decade have provided an improved understanding of the genetics of CF, including correlations between the disease phenotype and genotype, progress in the development of gene-based therapy, and the practical reality of prenatal genetic testing for CF. Since women will be the primary users of genetic testing for CF, care must be taken to ensure that health care providers and policy makers be cognizant of the differential impact of new genetic technologies and information for women.