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.

Structures for clinical follow-up: newborn screening.

Clinical follow-up of children identified by newborn screening is critical in ensuring that the short-term and long-term needs of the newborn infant are managed. Within the United States, one of the biggest challenges in the newborn screening programme is clinical follow-up, and there still remains wide variation in practice patterns among states on how infants are followed up. In addition, there is lack of consistency in the treatment and diagnostic protocols used by health care providers. There is growing interest in the establishment of a systematic process for follow-up and for the development of a nationwide infrastructure that will ensure that all children will be provided consistent and effective treatment in a timely manner. Within this framework of optimal diagnosis and therapy, there must also be opportunities to study the natural history of these conditions, to monitor short- and long-term health outcomes, to assist with policy decision-making, to validate the effectiveness of screening, to define the clinical spectrum of the diseases, and to provide opportunities for the advancement of novel therapeutic interventions and screening/diagnostic technologies. It will only be through the development of a structured clinical follow-up system that we will be able to make certain these newborn infants are provided the most appropriate treatment for their disease variants and allow researchers to make more rapid advances in improving the clinical management of these conditions.