FELSI: Financial, Ethical, Legal, and Social Issues of NBS, Karla Bartholomew

This presentation addresses the inter-connected topics of: Financial, Ethical, Legal, and Social issues (FELSI) associated with a Newborn Screening (NBS) program. Drawing on the experience of the U.S. and other industrialized countries, we discuss the ethical considerations of developing a national NBS program, including program goals and interests served as well as criteria for panel inclusion. We then consider the legal issues associated with the operation of a NBS program (responsibility and liability, lab standards and oversight, parental choice and informed consent) as well as legal issues associated with privacy and confidentiality. We then briefly discuss the financial and social issues of a NBS program in the context of Morocco. We end our discussion with suggestions for Next Steps to address these issues.

Newborn screening in the United States, Swapna Abhyankar

Newborn screening (NBS) in the United States (US) is a complex public health program. The goals of NBS are to identify seemingly healthy infants who have serious conditions, begin treatment before they suffer significant disability or death, and in doing so decrease the burden of disease on society. In the US, NBS began in the 1960s when Dr. William Guthrie developed a screening test for phenylketonuria. Until 2006, however, there was no uniformity in screening across states, with some screening for 4 conditions and other screening for 50. In 2006, a recommended uniform screening panel was published that included conditions based on detailed criteria for the condition itself, screening and diagnostic tests, and treatment and management. Currently, the recommended panel includes 31 primary conditions and 26 secondary conditions. The impact of NBS goes far beyond the newborn period; infants who are diagnosed with conditions based on NBS will need long-term follow-up, including testing, monitoring, and treatment, for the rest of their lives. NBS stakeholders include patients, families, hospitals, laboratories, public health programs, primary care and specialty providers, and many others. Major challenges facing US NBS are funding, especially as additional conditions are added to the panel, insurance coverage of diagnostic testing and treatments such as medical foods, effective long-term follow-up, and issues related to storage of dried blood spot specimens. In summary, NBS is a critical public health program whose goal is to protect our most vulnerable population and reduce the burden of disease for patients, families, and society.

National Library of Medicine’s coding and terminology standards for newborn screening, Swapna Abhyankar

Over the past several years in the United States (US) there has been a push towards using health information technology (HIT), including internationally-adopted coding and terminology standards. If standards are not used and data are not stored or reported in the same way across institutions, comparing data in a meaningful way is very difficult. Specific standards include Logical Observation Identifiers Names and Codes (LOINC®) for lab tests and other measurements, Systemized Nomenclature of Medicine – Clinical Terms (SNOMED CT®) for problems and conditions, and the Unified Code for Units of Measure. Health Level 7 (HL7) is the standard for transmitting clinical data. Until recently, most US NBS programs and laboratories were not using coding standards or electronic methods to report NBS results to hospitals or other providers, and there was a gap in some of the coding standards when it came to NBS terms. The National Library of Medicine (NLM) worked with multiple agencies to create new codes for NBS as well as national guidance for standardization and electronic reporting of newborn screening results using HL7 messages that contain a prescribed set of LOINC and SNOMED CT codes, report quantitative test results, and use standardized units of measure. NLM is working with several states that are currently implementing this guidance and many others that are in the early planning stages. Using standard terms and codes for NBS would allow NBS programs to communicate results more efficiently, programs to collect more long-term follow-up data, and regional and national registries to aggregate results and provide more data for research on improving screening and treatment protocols, all with the ultimate goal of improving patient outcomes.


Neonatal screening in Belgium, Hilde LAEREMANS

The national Belgian newborn screening program started in 1968. Unfortunately, it was decided in 1981 that everything concerning preventive medicine, should be in the hands of the different communities. This has lead over the years to different legislations in the French and Flemish community.
This year, some modifications were made in the Flemish community. For the moment, there are two screening centers (three before), Brussels and Antwerp. Currently, these centers screen for eleven disorders. There is a very strict protocol that needs to be followed for analysis, communication of the results and follow-up. Screening results, all follow-up visits and clinical analysis, are documentated in the centers. Birth records are checked for coveringsgrade and refusal for screening are documentated.
In the south, the legislation changed in 2009, a law was signed to determine the protocol for newborn screening in the French community, and hopefully, this new law will make it easier to add the disorders that need to be screened for.
Because of the differences between the nord and the sud, a newborn in Belgian is screened for different disorders depending on the place were it is born. Also, the current situation has some financial disadvantages. For sure, it would be economically more interesting to unite the centers.
Finally, on a scientific level, due to the change on the Flemish part of Belgium, our center has reached the critical mass of 50,000 screenings every year. However, reducing the number of centers and combining both communities would make it easer to reach this critical mass. This situation is also a big burden for the Belgian centers while trying to set up new techniques and pilot studies.
In conclusion, there are many different reasons to make the newborn screening program for IEM again a national objective. Although, since the last year, some big advances have been made.

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