Literature DB >> 15994357

Newborn screening: new developments, new dilemmas.

N J Kerruish1, S P Robertson.   

Abstract

Scientific and technological advances are lending pressure to expand the scope of newborn screening. Whereas this has great potential for improving child health, it also challenges our current perception of such programmes. Standard newborn screening programmes are clearly justified by the fact that early detection and treatment of affected individuals avoids significant morbidity and mortality. However, proposals to expand the scope and complexity of such testing are not all supported by a similar level of evidence for unequivocal benefit. We argue that screening for genetic susceptibility to complex disorders is inherently different from standard screening and, while of potential value, must be considered separately from conventional testing.

Entities:  

Keywords:  Genetics and Reproduction; Health Care and Public Health

Mesh:

Year:  2005        PMID: 15994357      PMCID: PMC1734185          DOI: 10.1136/jme.2004.008219

Source DB:  PubMed          Journal:  J Med Ethics        ISSN: 0306-6800            Impact factor:   2.903


  37 in total

Review 1.  Science, medicine, and the future: Postgenomic technologies: hunting the genes for common disorders.

Authors:  C Mathew
Journal:  BMJ       Date:  2001-04-28

2.  PANDA identifies babies at risk of developing type 1 diabetes.

Authors:  M Greener
Journal:  Mol Med Today       Date:  2000-01

3.  Will genetics revolutionize medicine?

Authors:  N A Holtzman; T M Marteau
Journal:  N Engl J Med       Date:  2000-07-13       Impact factor: 91.245

4.  Mechanisms of postnatal neurobiological development: implications for human development.

Authors:  S J Webb; C S Monk; C A Nelson
Journal:  Dev Neuropsychol       Date:  2001       Impact factor: 2.253

5.  The potential social impact of predictive genetic testing for susceptibility to common chronic diseases: a review and proposed research agenda.

Authors:  Charlie Davison; Sally Macintyre; George Davey Smith
Journal:  Sociol Health Illn       Date:  1994-06

6.  A SIMPLE PHENYLALANINE METHOD FOR DETECTING PHENYLKETONURIA IN LARGE POPULATIONS OF NEWBORN INFANTS.

Authors:  R GUTHRIE; A SUSI
Journal:  Pediatrics       Date:  1963-09       Impact factor: 7.124

Review 7.  Neonatal screening for inborn errors of metabolism: cost, yield and outcome.

Authors:  R J Pollitt; A Green; C J McCabe; A Booth; N J Cooper; J V Leonard; J Nicholl; P Nicholson; J R Tunaley; N K Virdi
Journal:  Health Technol Assess       Date:  1997       Impact factor: 4.014

8.  Feasibility of genetic and immunological prediction of type I diabetes in a population-based birth cohort.

Authors:  A Kupila; P Muona; T Simell; P Arvilommi; H Savolainen; A M Hämäläinen; S Korhonen; T Kimpimäki; M Sjöroos; J Ilonen; M Knip; O Simell
Journal:  Diabetologia       Date:  2001-03       Impact factor: 10.122

9.  Effect of cow's milk exposure and maternal type 1 diabetes on cellular and humoral immunization to dietary insulin in infants at genetic risk for type 1 diabetes. Finnish Trial to Reduce IDDM in the Genetically at Risk Study Group.

Authors:  J Paronen; M Knip; E Savilahti; S M Virtanen; J Ilonen; H K Akerblom; O Vaarala
Journal:  Diabetes       Date:  2000-10       Impact factor: 9.461

10.  The first signs of beta-cell autoimmunity appear in infancy in genetically susceptible children from the general population: the Finnish Type 1 Diabetes Prediction and Prevention Study.

Authors:  T Kimpimäki; A Kupila; A M Hämäläinen; M Kukko; P Kulmala; K Savola; T Simell; P Keskinen; J Ilonen; O Simell; M Knip
Journal:  J Clin Endocrinol Metab       Date:  2001-10       Impact factor: 5.958

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  8 in total

1.  Parents' decisions to screen newborns for FMR1 gene expansions in a pilot research project.

Authors:  Debra Skinner; Summer Choudhury; John Sideris; Sonia Guarda; Allen Buansi; Myra Roche; Cynthia Powell; Donald B Bailey
Journal:  Pediatrics       Date:  2011-05-29       Impact factor: 7.124

2.  Ethical issues in screening for hearing impairment in newborns in developing countries.

Authors:  B O Olusanya; L M Luxon; S L Wirz
Journal:  J Med Ethics       Date:  2006-10       Impact factor: 2.903

3.  Parents' experiences 12 years after newborn screening for genetic susceptibility to type 1 diabetes and their attitudes to whole-genome sequencing in newborns.

Authors:  Nicola Kerruish
Journal:  Genet Med       Date:  2015-06-11       Impact factor: 8.822

4.  Stakeholder attitudes towards the role and application of informed consent for newborn bloodspot screening: a study protocol.

Authors:  S G Nicholls; L Tessier; H Etchegary; J C Brehaut; B K Potter; R Z Hayeems; P Chakraborty; J Marcadier; J Milburn; D Pullman; L Turner; B J Wilson
Journal:  BMJ Open       Date:  2014-11-24       Impact factor: 2.692

5.  Polygenic susceptibility to testicular cancer: implications for personalised health care.

Authors:  Kevin Litchfield; Jonathan S Mitchell; Janet Shipley; Robert Huddart; Ewa Rajpert-De Meyts; Niels E Skakkebæk; Richard S Houlston; Clare Turnbull
Journal:  Br J Cancer       Date:  2015-10-13       Impact factor: 7.640

6.  Genomic newborn screening: public health policy considerations and recommendations.

Authors:  Jan M Friedman; Martina C Cornel; Aaron J Goldenberg; Karla J Lister; Karine Sénécal; Danya F Vears
Journal:  BMC Med Genomics       Date:  2017-02-21       Impact factor: 3.063

7.  National Program for External Quality Assessment of Chinese Newborn Screening Laboratories.

Authors:  Yuxuan Du; Wei Wang; Jiali Liu; Zhixin Zhang; Zhen Zhao; Falin He; Shuai Yuan; Zhiguo Wang
Journal:  Int J Neonatal Screen       Date:  2020-05-09

8.  A verification of the application of the non-derivatized mass spectrometry method in newborns screening of metabolic disorders.

Authors:  Yulan Zheng; Yao Chen; Xiaolong Qiu; Weifen Chen; Qingying Lin; Yinglin Zeng; Hong Zhao; Wenbin Zhu
Journal:  Medicine (Baltimore)       Date:  2019-05       Impact factor: 1.817

  8 in total

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