Children born with the rare SCID disorder can be cured with bone marrow transplantation or gene therapy. However, without the benefit of early detection, lives are lost. Bobby Gaspar, Professor of Pediatrics and Immunology at University College London, is working towards implementing
PerkinElmer took part as an exhibitor in the Newborn Screening and Genetic Testing Symposium, held 10–13 September in New Orleans, Louisiana, USA. The symposium, sponsored by the Association of Public Health Laboratories, is a major global event for companies, organizations and advocacy groups involved with newborn screening.
“Newborn screening is not simply buying a kit or a machine; it’s a whole approach of analysis and interpretation. Now, it’s time to convince the authorities to move forward”, says Dr. Issam Khneisser, NBS pioneer in the Middle East and North Africa (MENA) region.
Duchenne muscular dystrophy is one of the ten most severe and common pediatric genetic diseases and affects an estimated 1 in every 5000 male births. While Duchenne muscular dystrophy is still a 100% fatal disease, the clinical community has demonstrated that immediate identification and early clinical interventions can add years, even decades to an individual’s life span.
A video created in South Africa with the support of the Newborn Screening Laboratory at North-West University and the Technology Innovation Agency addresses the lack of neonatal screening in South Africa. Through the stories of three South African families whose babies could have been saved permanent disability and even untimely death, the video urges all mothers to make sure their babies are screened.
Newborn screening program managers from 12 countries in the Asia Pacific Region attended the Fifth Workshop on Consolidating Newborn Screening Efforts in the Asia-Pacific Region in order to establish guidelines for regionalization, collaboration, policy development and networking.
Like many Asian countries, India has welcomed newborn screening (NBS) as a valuable public health programme for the detection of congenital disorders and improvement of infant mortality rates. Although steady progress has been made, screening is not yet available to most of the 26 million babies born yearly in India. PerkinElmer is committed to helping chart a course that will change this. Following global trends in neonatal screening, India has been training physicians to screen for physical birth defects, and many states within India are now launching similar pilot programs of their own. Biochemical testing for inborn error of metabolism (IEMs) is anticipated to follow with rising local awareness on the importance of improving child health outcomes. A major challenge is to recognize that newborn screening is not merely a test, but a whole system of sample collection, quality control, training, treatments, and therapies. PerkinElmer has been supplying pediatricians and hospital staff in India with maternal fetal health and NBS solutions since 2009. In an ETHealthworld interview, Linh Hoang, vice president of Neonatal Screening Diagnostics at PerkinElmer, provides a glimpse into how the company’s vision for India is currently unfolding.
We would like to recognize the Hospital Nacional Docente Madre Niño San Bartolome as the first newborn screening laboratory in Lima, Peru to join laboratories world-wide using AutoDELFIA® analyzers to screen for TSH and 17 OHP. This laboratory also expects to be the first lab in Peru to meet the government mandate to screen all newborns for Cystic Fibrosis using the IRT assay. Congratulations to Dr. Bindels and her team for making this happen.
The World Health Organization has recently issued directives for countries in sub-Saharan Africa to develop newborn screening, and to establish care and treatment programs, but most countries lack training and expertise. Over the past four years, Dr. Russell Ware has worked with teams in Angola and Uganda to develop pilot newborn screening programs for SCD.
PerkinElmer® Genetics, located just outside of Pittsburgh, Pennsylvania, has been providing newborn screening services for over 20 years. During that time, the laboratory has processed close to six million samples using biochemical, molecular and mass spec based technology while partnering with the states of Pennsylvania, Mississippi, Nebraska, Louisiana and the District of Columbia. In 2010, PerkinElmer Genetics started offering a 6-plex assay to test for Gaucher, Niemann-Pick, Krabbe, Hurler-MPS-I, Pompe and Fabry lysosomal storage disorders. More recently, they completed the development and validation of tests for MPS-IVA and VI. Work is also underway to add testing for Adrenoleukodystrophy (X-ALD) with the goal to being able to offer all these tests as part of their StepOne® Newborn Screening, a “Lab in a Lab” or as back-up testing for labs that experience unplanned outages. For more information, please contact PJ Borandi at PJ.Borandi@PerkinElmer.com.
Visit ZB Foundation homepage » Zahra Beau Naqvi, was born with a metabolic, incurable disease that left her in intensive care, fighting for her life. Zahra could have beaten the disease and gone on to live a normal, healthy life if doctors had performed just one simple ‘heel prick’ test to identify the disorder. From this painful experience came the birth of the ZB Foundation, set up by her parents to give other babies the chance that Zahra never had.
Newborn screening (NBS) expansion is once again gaining momentum in the United States with many disorders being considered due to promising new treatments, better testing methods and other factors that impact the decision making process. Three factors that have helped shape the NBS landscape in the U.S.
Dr. Yin-Hsiu Chien, director of the newborn screening center at the National Taiwan University Hospital, has made diverse contributions in the field of inborn errors of metabolism and immunodeficiency. Her team, lead by Dr Wuh-Lang Hwu is devoted to the diagnosis and treatment of lysosymal storage diseases (LSD). Dr. Chien’s current work focuses on Pompe disease, specifically on early diagnosis and improvement of treatment. Dr. Chien and her team have played an important role in making Taiwan’s newborn screening programs into one of the most developed newborn screening programs in the world.
The NBS Program in the Philippines started out as a pilot project involving 24 hospitals in the country’s capital region. It took some time for the newborn screening program to be successfully integrated into the national health program through the Philippine Newborn Screening Act of 2004. Almost two decades after the pilot project, the program was deemed ready for the expansion from screening for six disorders to screening for more than 20 disorders. The presentation from Dr. Melanie presents the challenges of implementing an expanded newborn screening program in a developing country like the Philippines and the conditions identified in the first phases of offering the service.
Severe combined immune deficiency (SCID) was proposed as a potential candidate for universal new born screening as early as the 1970s, but only recently has the technical and political ability to implement universal SCID screening been possible. Among the first states to pilot new born screening for SCID using T cell receptor recombination excision circles (TRECs), California has been able to screen almost two million infants in its first four years of screening. This program has provided a detailed and relatively unbiased assessment of the clinical manifestations of SCID, its incidence, and the genetic epidemiology of the disease. 87% of those infants identified by screening survive through transplant. Screening has resulted in earlier transplant of patients with SCID prior to the emergence of opportunistic infections, improving outcomes and helping to ensure that all children at risk have access to life-saving therapy. While screening for SCID has significantly improved the ascertainment and outcome for most cases of profound T cell lymphopenia, there are important causes of PID that remain undetected by existing screening, and these are excellent candidates for future investigation and possibly for new screening modalities. In addition, improvements in the uniformity and systematic means of transplanting these infants should become an important focus.
In India, the number of cases related to rare diseases is plenty, still we they don’t have the all important newborn screening program implemented. In an e-Doctor exclusive feature from the 1st International conference on Rare Diseases, Dr. Bradford L. Therrell, Director, National Newborn Screening and Global Resource Center, Austin, Texas, USA, and Dr. Carmencita M. David-Padilla, Chancellor, University of the Philippines, Manila; Executive Director, Philippine Genome Center, dwell upon the need to implement new born screening programs and what role Pediatricians can play.