Conference report: second conference of the Middle East and North Africa newborn screening initiative: Partnerships for sustainable newborn screening infrastructure and research opportunities.

The second conference of the Middle East and North Africa newborn screening initiative: partnerships for sustainable newborn screening infrastructure and research opportunities was held in Cairo, Arab Republic of Egypt on April 12 to 14, 2008. Policy makers, health ministry representatives, health care providers, and experts from the region, Europe, Asia, and North America participated. The primary outcome was development of country plans of action to implement or expand newborn screening programs. Country representatives were grouped by current levels of national newborn screening activities based on a Needs Assessment Survey for national newborn screening programs and assisted by international technical experts. The Needs Assessment Survey provided information on the level of newborn screening in each country, strengths and barriers to implementation of newborn screening programs, and identified areas for research. Newborn screening programs require an integrated system of laboratories, health care providers, and educators, thus, the infrastructure put in place to screen for one condition should support expansion to other conditions. Congenital hypothyroidism was selected for initiating newborn screening programs because of its high prevalence, availability of screening methods, and cost-effective intervention. To this end, the conference provided technical sessions on screening and treatment of congenital hypothyroidism, performance standards, quality assurance, follow-up interventions, and patient management. In addition, presentations highlighted the value of integrating research into newborn screening programs as they are established and in evaluating outcomes. Research opportunities were identified at a postconference workshop sponsored by the US Civilian Research Development Foundation.

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.