Peer-reviewed journal article | Web-based journal article | Books | Multimedia | Invited Platform Presentations - Regional | Invited Platform Presentations - National | Invited Platform Presentations - International | Platform presentations accepted through abstract submission | Posters
Osara Y, Coakley K, Deverajan A, Singh RH. Development of Newborn Screening Connect (NBS Connect): A self-reported patient registry and its role in improvement of care for patients with inherited metabolic disorders. Orphanet Journal of Rare Diseases. 2017, Jul; 12(1):132. PMID: 28724394 ( PDF)
Bellcross C. A., Harmond L., Floyd-Browning P., Singh R. Infrastructure and Educational Needs of Newborn Screening Short-Term Follow-Up Programs within the Southeast Regional Newborn Screening & Genetics Collaborative: A Pilot Survey. Healthcare. , 2015, Vol.3(4), p.964-972 PMID: 27417806 ( PDF)
Osara Y, Coakley K, Aisthorpe A, Stembridge A, Quirk M, Splett PL, Rohr F, Singh RH.The role of evidence analysts in creating nutrition management guidelines for inherited metabolic disorders. J Eval Clin Pract. 2015 Dec;21(6):1235-43. doi: 10.1111/jep.12428. Epub 2015 Aug 12. PMID: 26268585 ( PDF)
P Floyd-Browning, W Perry, HC Andersson. Newborn Screening Results Reporting Survey: A National Snapshot with Implications for Emergency preparedness. J Pediatr, 162(5):955-7, 2013 PMID: 23245195 ( PDF)
Andersson HC, Perry W, Bowdish B, Floyd-Browning P. Emergency preparedness for genetics centers, laboratories and patients: the SouthEast Region Genetics Collaborative strategic plan. Genet Med, ePub: June, 2011, October, 2011 PMID: 21673582 ( PDF)
Singh RH, Rohr F, Splett PL. (2011), Bridging evidence and consensus methodology for inherited metabolic disorders: creating nutrition guidelines. Journal of Evaluation in Clinical Practice. doi: 10.1111/j.1365-2753.2011.01807.x PMID: 22168925 ( PDF)
Kemper A, Brewer C, Singh RH. Perspectives on barriers to dietary adherence among women with Inborn Errors of Metabolism. Journal of the American Dietetic Association, 110:247-252, 2010.
Singh RH, Hinman AR. Newborn dried bloodspot screening: Long-term follow-up activities and information system requirements. Genet Med. Dec;12(12 Suppl):S261-6. 2010 PMID: 21150373
Weaver, MA, Johnson A, Singh RH, Wilcox WR, Lloyd-Puryear MA, Watson MS. Medical food: Inborn errors of metabolism and the reimbursement dilemma. Genet Med. Jun;12(6):364-369, 2010. PMID: 20445457
Hinman AR, Mann M, Singh RH. Newborn dried bloodspot screening: mapping the clinical and public health components and activities. Genetics in Medicine 11(6):418-424, 2009. doi: 10.1007/s12687-011-0055-z
Morales A, Wierenga A, Cuthbert C, Sacharow S, Jayakar P, Velazquez D, Loring J, Barbouth D. Expanded newborn screening in Puerto Rico and the US Virgin Islands: education and barriers assessment. Genetics in Medicine 2009 Mar;11(3):169-75. PMID: 19367190
Singh RH, Hinman AR, Wild E. Building a model for a comprehensive newborn screening system long-term follow-up information system. Mol Genet and Metab, 2009.
Das S, Bale SJ, Ledbetter DH: Molecular genetic testing for ultra rare diseases: Models for translation from the research laboratory to the CLIA-certified diagnostic laboratory. Genetics in Medicine 10:332-336, 2008. PMID: 18496031
Ledbetter DH: Gene patenting vs. licensing: the role of academic researchers and advocacy groups. Genetics in Medicine 10:314-319,2008. PMID: 18496028
Ledbetter DH: Cytogenetic technology, the genotype and the phenotype, New England Journal of Medicine, 356: 1828-30, 2008. PMID: 18784093
Ledbetter DH, Faucett WA: Issues in genetic testing for ultra-rare diseases: Background and introduction. Genetics in Medicine 10:309-313, 2008. PMID: 18428312
Singh RH, Kaczmarczyk MM. Standards of professional practice for genetic metabolic dietitians. Genet Med 2008:10(4):290–293 PMID: 18414212
Singh RH. The enigma of medical foods. Molecular Genetics and Metabolism. 92(1-2):3–5, 2007. ( PDF)
Eckman JR. Celebrating a Century of Progress in Sickle Disease. Georgia Academy of the Georgia American Academy of Pediatrics Newsletter; Submitted for Publication April 2010.
Lloyd-Puryear MA, Kemper AR. Newborn Screening in the United States. In: Saul RA, ed. Medical Genetics in Pediatric Practice. Elk Grove Village, IL: American Academy of Pediatrics; 2013: 335 ISBN: 9781581104967
Platt AF, Eckman JR, Hsu L: Hope and Destiny: A Patient’s Guide to Sickle Cell Disease and Sickle Cell Trait. 3rd Edition. Roscoe, Illinois: Hilton Publishing Company ISBN: 9780984144709
Lloyd-Puryear MA, Therrell BL, Mann MY, Eckman JR, Telfair J. The Role of the Federal Government in Supporting State Newborn Screening Programs. In: Bailey MA and Murray TH, eds. Ethics and Newborn Genetic Screening. New Technologies, New Challenges. Baltimore, MD: The Johns Hopkins University Press; 2009:178-194.
Singh RH. Nutrition Management of Patients with Inherited Disorders of Urea Cycle Enzymes. Nutrition Management of Patients with Inherited Metabolic Disorders. Acosta PB (Ed). Jones and Bartlett Publishers, 2009. PMID: 18034368
Eckman JR. Sickle Cell Disease Awareness. Presented for: Straight Talk Virgin Islands Radio Program on AM 970 WSTX; September 22, 2008. (Related article published in NCC Collaborator Newsletter March 2009 Edition Volume 3, Number 1, page 4)
Brauchla MC. Resources for Screening & Early identification: Regional Genetics Collaborative(s). Family Voices Region II Regional Conference; Atlanta, GA; April 30, 2010
Kemper AR. Genetics for the primary care physician. Columbus Regional Healthcare System Grand Rounds. Columbus, GA. June 29, 2010.
Kemper AR. Genetics for the primary care physician. Meharry Medical College Department of Pediatrics Grand Rounds. Nashville, TN. April 7, 2010.
Eckman JR. Health Disparities in Sickle Cell Disease. Presented at: Practical Issues in Sickle Cell Disease IX: Bringing Hope to Healthcare in Sickle Cell Disease Seminar; University of South Alabama Medical Center; April 25, 2009; Mobile, AL.
Eckman JR. The Newborn Exam. Presented at: The Georgia Academy of Family Physicians’ 2009 Summer CME Family Medicine Weekend. May 31, 2009, Hilton Head, GA.
Eckman JR. Ouch – Pain and Pain Management in Sickle Cell Disease. Presented at: Sickle Cell Patient, Family and Providers Retreat; May 30, 2009; Savannah, GA.
Kemper AR. Genetics for the primary care physician. Columbus Regional Healthcare System Grand Rounds. Columbus, GA. December 10, 2009.
Eckman JR. Advancements in Research and the Management of Sickle Cell Disease. Presented to: The Rotary Club of South DeKalb; June 19, 2008; Lithonia, GA.
Eckman, JR. Health Care Delivery for Adults with Sickle Cell Disease: Emergency and Inpatient Care. Presented at: Grand Rounds, Piedmont Health Services and Sickle Cell Agency; November 29-30, 2007; Greensboro, NC.
Singh RH. Nutrition and Inborn Metabolic Disorders. Children with Special Healthcare Needs Meeting, Division of Public Health, Georgia Department of Human Resources. Macon, GA 2007
Singh RH. Successes in Nutritional Therapies for Metabolic Disorders. Georgia Chapter American Academy of Pediatrics Annual Meeting. Sea Island, GA 2007
Eckman JR. Lessons Learned from Carrier Screening. Proceedings from: Sickle Cell Anemia Population-Based Carrier Screening for Sickle Gene Disorders: Lessons Learned and New Opportunities. Sponsored by the National Human Genome Research Institute, National Institute of Child Health and Human Development, Office of Rare Diseases of the NIH, Health Resources and Services Administration, Centers for Disease Control and Prevention, Genetic Alliance, and American College of Medical Genetics; February 6-7, 2008; Rockville, MD.
Singh RH. Positive Newborn Screens: Challenging Cases. ACMG/SIMD Annual Conference, Nashville, TN 2007
Singh RH. New Insights into Nutritional Management and Amino Acids Supplementation in Urea Cycle Disorders, Birmingham, United Kingdom, 2010
Singh RH. Protein requirements in patients with Inborn Errors of Metabolism, Latin American Society of Inborn Errors of Metabolism, 7th International Congress, Cancun, Mexico 2009
Singh RH. Development of evidence-based practice guidelines for the nutrition management of inherited metabolic disorders. Symposium for Metabolic Dietitians from Scandinavia. Sweden. 2008
Singh RH, Frazier DM, Ueda, K. Current treatment and outcome of Inborn Errors of Metabolism: Developing nutritional guidelines for metabolic disorders. Society for Inherited Metabolic Disorders, Albuquerque, NM, March 2010
Kaczmarczyk MM, Singh RH. Moving newborn screening beyond the screening test: Informatics as a bridge from short- to long-term follow-up. Southeastern Regional Genetics Group Annual Meeting, Charleston, SC, July 2008.
Kemper AR and Boyle CA. Assuring long-term follow-up after diagnosis through newborn screening. Genetic Alliance Annual Conference. Bethesda, MD, July 2008.
Kaczmarczyk MM, Singh RH. Standards of professional practice for genetic metabolic dietitians. Southeastern Regional Genetics Group Annual Meeting, New Orleans, LA, July 2007.
Page T, Knight L, Yu C, Fernhoff P, Singh RH, Ledbetter D. Implementation of a passive short-term follow-up system for newborn screens. Southeastern Regional Genetics Group Annual Meeting, New Orleans, LA, July 2007.
Borlaza RR, Singh RH. Clinical Correlations in Nutrition and Metabolism: Outcomes of a Practical Training Course for Genetic Metabolic Clinicians. 2011 SIMD Annual Meeting, Pacific Grove, CA and The SERC/SERGG Annual Meeting, July 2011
Floyd-Browning P, Perry W, and Andersson HC. Newborn Screening (NBS) Results Reporting: A National Snapshot in 2010. 2011 SIMD Annual Meeting, Pacific Grove, CA
Frazier D, Ogata B, Homer C, Otwell E, Rohr F, Singh RH. Nutritional Management Guidelines for MSUD. 2011 SIMD Annual Meeting, Pacific Grove, CA
Jurecki ER, Ueda K, Otwell E, Rohr F, Singh RH. Development of Nutrition Guidelines for Inborn Errors of Metabolism (IEM): Results of the First Delphi Survey on Propionic Acidemia Guidelines. 2011 SIMD Annual Meeting, Pacific Grove, CA
Otwell E, Stembridge A. Use of Business Process Analysis and Requirements Development to Build the Nutrition Guidelines Portal. SERC/SERGG Annual Meeting, July 2011
Pike BL, He M, Caldwell GS, Chaing SH, Evans C, Hagar AF, McKeever CD, Morris D, Torres J, Stembridge A, and Wood TC. Peer-to-Peer Sample Exchange Program for Continuous Quality Assessment. APHL Annual Meeting, Omaha, NE. June 2011 and The SERC/SERGG Annual Meeting, July 2011
Shankar P, Navathe S, Malhotra K, Sheth K, and Singh RH. Defining A Semantic Web Architecture for Long Term Follow Up (LTFU) of Children Positively tested with New Born Screening (NBS) Program. 2011 SIMD Annual Meeting, Pacific Grove, CA
Kemper AR, Ouyang L, Grosse SD. Discontinuation of thyroid hormone treatment among children in the United States with congenital hypothyroidism. Pediatric Academic Societies Meeting. Vancouver, Canada, May 2010.
Tirado-Ramos A, Pan TC, Saltz JH, Singh RH. A Grid-based framework for comparative effectiveness research in newborn dried bloodspot screening for long-term follow-up. AMIA Summit on Clinical Research Informatics, San Francisco, CA, March, 2010.
Kaczmarczyk M, Travis SJ, Brauchla MC, Singh RH. The Creation of NBS Connect, a clinician supported patient registry and support network facilitating long-term follow-up of individuals with inborn errors of metabolism (IEM). American College of Medical Genetics Annual Clinical Genetics Meeting, Tampa, FL, March 2009.
Singh RH, Splett P, and Rohr F. Nutrition management guidelines: Development of a method to merge scientific evidence and clinical expertise. American College of Medical Genetics Annual Clinical Genetics Meeting, Tampa, FL, March 2009.
Brauchla MC and Singh RH. Creation of a centralized resource on legislation and coverage of medical foods (formula), modified low-protein foods, and dietary supplements in the Southeast region. Southeastern Regional Genetics Group Annual Meeting, Charleston, SC, July 2008.
Yu C, Stembridge A, Page PZ, Fernhoff PM, Ledbetter DH, Singh RH. Evaluation of performance metrics of TMS newborn screening in Georgia. Society of Inborn Errors of Metabolism, Asilomar, Pacific Grove, CA, March 2008.
Brauchla M, Keehn A, Singh RH. Southeastern newborn screening system contact reference. Southeastern Regional Genetics Group Annual Meeting, New Orleans, LA, July 2007.
Page T, Bean L, Yu C, Fernhoff P, Singh RH, Ledbetter D. Playing catch-up: update on expansion of the newborn screening panel in Georgia. Southeastern Regional Genetics Group Annual Meeting, New Orleans, LA, July 2007.
Singh RH, Brauchla M, Keehn A, Ledbetter D. Closing the gaps: A regional genetic services directory to facilitate information sharing throughout the comprehensive newborn screening system in the Southeastern United States (Region 3), Florida Chapter American Academy of Pediatrics Annual Meeting, Orlando, FL, June 2007
FDA permits marketing of first newborn screening system for detection of four, rare metabolic disorders
The U.S. Food and Drug Administration today permitted marketing of the Seeker System for the screening of four, rare Lysosomal Storage Disorders (LSDs) in newborns. The Seeker system is designed to detect Mucopolysaccharidosis Type I (MPS I), Pompe , Gaucher and Fabry . It is the first newborn screening test permitted to be marketed by the FDA for these disorders.
LSDs are a group of rare, inherited metabolic disorders in which enzymes (proteins) that normally eliminate unwanted substances in the body's cells are not at normal levels or functioning properly. According to the U.S. Department of Health and Human Services' Advisory Committee on Heritable Disorders in Newborns and Children, MPS I, Pompe, Gaucher and Fabry occur in approximately 1 in 1,500 to no more than 1 in 185,000 newborns and children, depending on the disorder. If not detected and treated in a timely manner, these disorders may cause organ damage, neurological disability or death.
"The Secretary of HHS recently added Pompe and MPS I to the list of routine recommended newborn screening programs and it is anticipated that additional states will begin requiring use of screening tests to detect these disorders," said Alberto Gutierrez, Ph.D., director of the Office of In Vitro Diagnostics and Radiological Health in the FDA's Center for Devices and Radiological Health. "Accurate screening tests will help with early detection, treatment and control of these rare disorders in newborns, before permanent damage occurs. That's why availability of LSD screening methods that have been assessed for accuracy and reliability by the FDA are so important."
Several states currently mandate LSD screening in all newborns, including Arizona, Illinois, Kentucky, Michigan, Missouri, New Jersey, New Mexico, New York, Ohio, Pennsylvania and Tennessee. However, until today there were there were no FDA-authorized devices for screening of these disorders. Availability of the Seeker System provides laboratories with a screening tool that has been reviewed by the FDA for clinical and analytical validity.
The Seeker System, consisting of the Seeker LSD Reagent Kit- IDUA|GAA|GBA|GLA and Seeker Instrument, works by measuring the activity level of proteins required for healthy lysosomal storage found in dried blood samples collected from the prick of a newborn's heel 24 to 48 hours after birth. The Seeker Instrument is a device that automates the analysis of dried blood spots. Reduced enzyme activity of proteins associated with any of the four LSDs detected by the kit may indicate presence of a disorder. Results showing reduced enzyme activity must be confirmed using other testing methods, such as biopsies, genetic and other laboratory tests.
The FDA reviewed the data for the Seeker System through the de novo premarket review pathway, a regulatory pathway for devices of a new type with low-to-moderate-risk that are not substantially equivalent to an already legally marketed device and for which special controls can be developed, in addition to general controls, to provide a reasonable assurance of safety and effectiveness of the devices. During this process, the FDA evaluated data from a clinical study of 154,412 newborns in Missouri whose dried blood samples were tested for protein activity associated with MPS I, Pompe, Gaucher and Fabry. Efficacy was determined because the system was able to accurately identify at least one of each of these four LSDs in 73 of the screened newborns.
Risks associated with use of the screening system include false negative findings. As part of this study, the Missouri State Public Health Laboratory conducted active surveillance of four of the state's metabolic clinical centers for new diagnoses of these disorders. The state laboratory's surveillance activities extended 15 months following the study's completion to determine cases of false negatives that had not been identified during the study. No false negative results were identified either through the study or the state's 15-month surveillance program.
The Seeker System was created with funding from the Small Business Innovation Research program in National Institutes of Health's Eunice Kennedy Shriver National Institute of Child Health and Human Development. It is manufactured by Baebies Inc., located in Durham, North Carolina.
The FDA, an agency within the U.S. Department of Health and Human Services, promotes and protects the public health by, among other things, assuring the safety, effectiveness, and security of human and veterinary drugs, vaccines and other biological products for human use, and medical devices. The agency also is responsible for the safety and security of our nation's food supply, cosmetics, dietary supplements, products that give off electronic radiation, and for regulating tobacco products.
JELILI OJODU, MPH | Director, Newborn Screening and Genetics
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