Policy considerations in designing a fragile X population screening program

Genetics in Medicine

Volumn 10, Issue 10, 2008, Pages 711-713

  Ross, Lainie Friedman ^a,b   Acharya, Kruti ^a,b  

^a UNIVERSITY OF CHICAGO   (United States)

^b UNIVERSITY OF CHICAGO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DECISION MAKING; FRAGILE X SYNDROME; GROWTH RETARDATION; HEALTH CARE POLICY; HUMAN; INFORMED CONSENT; NOTE; PARENTAL CONSENT; PEDIATRICS; POLYMERASE CHAIN REACTION; SCREENING; SOUTHERN BLOTTING; TANDEM MASS SPECTROMETRY; X CHROMOSOME LINKED MUSCULAR DYSTROPHIC MOUSE;

FRAGILE X SYNDROME; GENETIC SCREENING; HEALTH POLICY; HUMANS;

EID: 56049093672     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/GIM.0b013e3181889457     Document Type: Note

References (25)

1. Saul RA, Friez M, Eaves K, et al. Fragile X syndrome detection in newborns-pilot study. Genet Med 2008;10:714-719.
2. Dawson AJ, Chodirker BN, Chudley AE. Frequency of FMRI premutations in a consecutive newborn population by PCR screening of guthrie blood spots. Biochem Mol Med 1995;56:63-69.
3. Strelnikov V, Nemtsova M, Chesnokova G, Kuleshov N, Zaletayev D. A simple multiplex FRAXA, FRAXE, and FRAXF PCR assay convenient for wide screening programs. Hum Mutat 1999;13:166-169.
4. Rifé M, Mallolas J, Badenas C, et al. Pilot study for the neonatal screening of fragile X syndrome. Prenat Diagn 2002;22:459-462.
5. Rife M, Badenas C, Mallolas J, et al. Incidence of fragile X in 5,000 consecutive newborn males. Genet Test 2003;7:339-343.
6. Chow JC, Chen DJ, Lin CN, et al. Feasibility of blood spot PCR in large-scale screening of fragile X syndrome in southern Taiwan. J Formos Med Assoc 2003;102:12-16.
7. Atkinson K, Zuckerman B, Sharfstein JM, Levin D, Blatt RJ, Koh HK. A public health response to emerging technology: expansion of the Massachusetts newborn screening program. Public Health Rep 2001;116:122-131.
8. Feuchtbaum L, Lorey F, Faulkner L, et al. California's experience implementing a pilot newborn supplemental screening program using tandem mass spectrometry. Pediatrics 2006;117(5 pt 2):S261-S269.
9. Bradley DM, Parsons EP, Clarke AJ. Experience with screening newborns for Duchenne muscular dystrophy in Wales. BMJ 1993;306:357-360.
10. Andrews LB, Fullarton JE, Committee on Assessing Genetic Risks, Division of Health Sciences Policy, Institute of Medicine. In: Andrews L, Fullarton JE, Holtzman NA, Motulsky AG, editors. Assessing genetic risks: implications for health and social policy. Washington, DC: National Academy Press, 1994.
11. Committee for the Study of Inborn Errors of Metabolism, Division of Medical Sciences, National Research Council. Genetic screening: programs, principles, and research. Washington, DC: National Academy of Sciences, 1975.
12. Holtzman NA, Faden R, Chwalow AJ, Horn SD. Effect of informed parental consent on mothers' knowledge of newborn screening. Pediatrics 1983;72:807-812.
13. Campbell E, Ross LF. Incorporating newborn screening into prenatal care. Am J Obstet Gynecol 2004;190:876-877.
14. American Academy of Pediatrics (AAP) Committee on Bioethics. Ethical issues with genetic testing in pediatrics. Pediatrics 2001;107:1451-1455.
15. Wilson JMG, Jungner G. Principles and practice of screening for disease. Public health paper number 34, Geneva: World Health Organization (WHO), 1968.
16. Strom CM, Huang D, Li Y, et al. Development of a novel, accurate, automated, rapid, high-throughput technique suitable for population-based carrier screening for Fragile X syndrome. Genet Med 2007;9:199-207.
17. Finlay WM, Lyons E. Rejecting the label: a social constructionist analysis. Mental Retard 2005;43:120-134.
18. Whitmarsh I, Davis AM, Skinner D, Bailey DB Jr. Aplace for genetic uncertainty: parents valuing an unknown in the meaning of disease. Social Sci Med 2007;65:1082-1093.
19. ACOG Committee on Practice Bulletins. ACOG practice bulletin no. 77: screening for fetal chromosomal abnormalities. Obstet Gynecol 2007;109:217-227.
20. Cunningham GC, Tompkinison DG. Cost and effectiveness of the California triple marker prenatal screening program. Genet Med 1999;1:199-206.
21. American College of Obstetricians and Gynecologists Committee on Genetics. ACOG committee opinion. No. 338: screening for fragile X syndrome. Obstet Gynecol 2006;107:1483-1485.
22. Park JH, Vincent D, Hastings-Tolsma M. Disparity in prenatal care among women of colour in the USA. Midwifery 2007;23:28-37.
23. Bailey DB Jr, Beskow LM, Davis AM, Skinner D. Changing perspectives on the benefits of newborn screening. Mental Retard Dev Disabil Res Rev 2006;12:270-279.
24. American Academy of Pediatrics Council on Children with Disabilities, Section on Developmental Behavioral Pediatrics, Bright Futures Steering Committee, Medical Home Initiatives for Children with Special Needs Project Advisory Committee. Identifying infants and young children with developmental disorders in the medical home: an algorithm for developmental surveillance and screening. Pediatrics 2006; 118:405-420.
25. Moeschler JB, Shevell M. American Academy of Pediatrics Committee on Genetics. Clinical genetic evaluation of the child with mental retardation or developmental delays. Pediatrics 2006;117:2304-2316.