Newborn Screening Interview

Today the number of screened disorders in developed programs, like the US, has generally increased by several.  The complexities of detection and diagnosis continue to increase.  In the developing world, there are increasing numbers of new programs as we move to increase the total of babies screened worldwide for at least one condition to more than 35%.

Barriers around the world are basically the same, but varying by degree.  Financing is always number one coupled with identifying the appropriate program leadership to understand and move things forward. As infant mortality rates improve to single digits, newborn screening increases in importance as a public health concern.  As system infrastructure is developed and data generated, policy makers can more easily move forward to develop a sustainable newborn screening system.

As technology develops and increasing numbers of conditions can be screened, developing the data to show incidence and improved outcomes becomes critical.  Without data to support test addition, choices cannot be scientifically based and political influences can unduly influence decisions about which conditions to screen next.

SEEKER provides a low cost, accurate laboratory screening system that more easily meets the needs of public health and other screening laboratories faced with the steep learning curves, and limited space and technical expertise required for newborn screening expansion. Screening seeks to separate those at increased risk from those who are not - using fast, inexpensive, and accurate techniques.  SEEKER provides a tested screening platform that has been demonstrated to meet these screening criteria in a setting that does not require sophisticated biochemical genetics training in order to analyze and interpret screening results accurately and quickly in order to facilitate early detection and treatment for an increasing number of conditions.

SEEKER continues to have the potential to provide a fast, accurate and relatively inexpensive mechanism for expansion of newborn screening in developed programs and to meet the basic needs in other less sophisticated developing programs.  Its small footprint in the laboratory coupled with quick and relatively inexpensive techniques on very small volumes of specimens makes it a very user-friendly application for NBS expansion. As methodologies for other screenable conditions are available, the possibilities for use in both developed and developing scenarios increases.

Genetic sequencing provides additional knowledge to help in diagnosing conditions detectable in newborn screening programs.  As cost decreases and technological advances speed the process, the possibilities for inclusion in screening improve.  I believe that molecular testing as part of newborn screening will continue to expand, first as a second-tier test to decreases unnecessary patient recall, and then as a primary screening tool. Primary screening will not be widespread until costs and speed can meet the needs of the screening community.

I am continuing to work with the developing world to begin and sustain newborn screening programs. I have just returned from assisting in certifying screening laboratories in the Philippines. I am continuing to work with various groups on implementing and expanding NBS in India, where there are 6-7 times as many newborns as in the U.S. with essentially no newborn screening.