Why should there be an NICHD?

In its nearly 5 decades of existence, the Eunice Kennedy Shriver National Institute of Child Health and Human Development has expended $23 billion in conducting and supporting research and translating discoveries to practice. The resulting dramatic impact on peoples' lives and improved health for children and families, chronicled herein, are a testament to the benefits of having this institute at the National Institutes of Health.

NICHD research initiative in newborn screening.

Recent changes in genetics research have created new opportunities to improve the scope and quality of newborn screening services. Changes in newborn screening should be supported and directed by an organized program of research. The NICHD Research Initiative in Newborn Screening includes the development of systematic methods to identify additional conditions appropriate for newborn screening; development and testing innovative interventions and treatments to improve outcomes; education of the provider workforce; development and implementation of appropriate information and communication systems for parents and providers; and, sponsoring an ongoing program of research and research training. Future needs will include the development of a national translational research infrastructure, prevention research and research into behavioral and social sciences issues. The NICHD Research Initiative in Newborn Screening is expected to be an ongoing and vital initiative that adapts itself to new scientific findings, technological developments, changes in the public and personal health care system, and our evolving understanding of the needs of affected individuals, families and the community.

A vision of the future of newborn screening.

In 40 years, newborn screening has evolved to become a standard component of preventive public health. Despite its widespread acceptance, efforts need to be made to overcome some significant problems. There is inequity in the conditions for which states screen routinely, and many conditions that could be screened for are not, for economic or logistic reasons. Existing (tandem mass spectrometry) and potential (DNA microarray) technologies could be developed and put in place to correct these existing shortcomings. To do so will require investment in the technologies, combined with public and professional education and provision of a high-quality, accessible system for confirmation of diagnoses, family counseling, initiation of treatment, and the opportunity to participate in research to develop new or improved therapies.

Response to: "Rescuing the NIH before it is too late".

We, the directors of the 27 NIH institutes and centers, wanted to respond to the points made by Andrew Marks in his recent editorial. While we appreciate that the scientific community has concerns, the current initiatives and directions of the NIH have been developed through planning processes that reflect openness and continued constituency input, all aimed at assessing scientific opportunities and addressing public health needs.

The National Institute of Child Health and Human Development and phenylketonuria.

The National Institute of Child Health and Human Development (NICHD) was established shortly after the Guthrie test for screening newborn infants for phenylketonuria (PKU) was introduced. The NICHD supported the study demonstrating the long-term efficacy of screening and a low-phenylalanine diet in preventing mental retardation. With the identification of the adverse impact on fetal development of high intrauterine phenylalanine exposure from a mother with PKU, the NICHD organized and supported the study reported here, demonstrating the protective effect of phenylalanine restriction of the mother's diet during pregnancy. The study provides clear guidance for the management of pregnancy in women with PKU.

The Convention on Human Rights and Biomedicine of the Council of Europe.

The Convention on Human Rights and Biomedicine developed by the Council of Europe, now undergoing ratification, is the first international treaty focused on bioethics. This article describes the background of the Convention's development and its general provisions and provides a comparison of its requirements with those of federal regulations governing research with human subjects. Although most provisions are comparable, there are significant differences in scope and applicability, for example, in the areas of compensation for injury, research participation by persons with limited capacity to consent, assisted reproduction, organ transplantation, and research in emergency situations. The Convention represents a milestone in international bioethics and protection of human rights that will probably be referred to with increasing frequency.

Women's physical health and well-being.

A relatively small number of physical disorders are unique to women, are more prevalent or serious in women, or require special prevention or intervention strategies in women. Among the earliest of these to appear developmentally are precocious puberty, for which an effective treatment has recently been developed, and anorexia and bulimia, which are increasing in frequency among young women without effective treatment. Arthritis, diabetes, lupus erythematosus, gallstones, and osteoporosis are other diseases in this category.Reproductive health concerns are a major focus of women's health. The hundred-fold reduction in maternal mortality related to pregnancy is one of the major public health achievements of this century. Despite effective contraceptives, over half the pregnancies in this country are unintended; thus, solving the related problems of infertility and unintended fertility are research priorities. Improving pregnancy outcome, particularly reducing the rate of prematurity, also needs increased attention.Cancer is the leading cause of death in middle-aged women. Lung cancer has replaced breast cancer as the primary cause of cancer death among women due to the increase of cigarette smoking among women. Smoking contributes to numerous other causes of death and disability among women. Of all things women could do to improve their health, the most important would be to avoid smoking.