Ethical issues in pediatric genetic testing and screening. - PubMed - NCBI

Ethical issues in pediatric genetic testing and screening. - PubMed - NCBI

Curr Opin Pediatr. 2016 Sep 6. [Epub ahead of print]

Ethical issues in pediatric genetic testing and screening.

Botkin JR1.

Author information

Abstract

PURPOSE OF REVIEW:

Developments in genetic test technologies enable a detailed analysis of the genomes of individuals across the range of human development from embryos to adults with increased precision and lower cost. These powerful technologies raise a number of ethical issues in pediatrics, primarily because of the frequent lack of clinical utility of genetic information, the generation of secondary results and questions over the proper scope of parental authority for testing.

RECENT FINDINGS:

Several professional organizations in the fields of genetics and pediatrics have published new guidance on the ethical, legal, and policy issues relevant to genetic testing in children. The roles of predictive testing for adult-onset conditions, the management of secondary findings and the role of informed consent for newborn screening remain controversial. However, research and experience are not demonstrating serious adverse psychosocial impacts from genetic testing and screening in children. The use of these technologies is expanding with the notion that the personal utility of test results, rather than clinical utility, may be sufficient to justify testing.

SUMMARY:

The use of microarray and genome sequencing technologies is expanding in the care of children. More deference to parental decision-making is evolving in contexts wherein information and counseling can be made readily available.

PMID:

 

27606958

 

DOI:

 

10.1097/MOP.0000000000000418

[PubMed - as supplied by publisher]

Public Health Genomics Knowledge Base (v1.2)

NEWBORN SCREENING

Last Updated: Sep 15, 2016

• A secondary benefit: the reproductive impact of carrier results from newborn screening for cystic fibrosis.
  Bombard Yvonne et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Sep
• Ethical issues in pediatric genetic testing and screening.
  Botkin Jeffrey R et al. Current opinion in pediatrics 2016 Sep
• Lab Quality Program Important to Newborn Screening 
• Prevalence of Sickle Cell Trait and Reliability of Self-Reported Status among Expectant Parents in Nigeria: Implications for Targeted Newborn Screening.
  Burnham-Marusich Amanda R et al. Public health genomics 2016 Sep 19(5)
• Beyond the Blood Spot: Newborn Screening for Hearing Loss and Critical Congenital Heart Disease
  CDC Public Health Grand Rounds, Septemeber 20, 2016
• A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening.
  Park Kyoung Jin et al. Annals of laboratory medicine 2016 Nov 36(6) 561-72
• Biobank participant support of newborn screening for disorders with variable treatment and intervention options.
  Bunnell Megan E et al. Journal of community genetics 2016 Sep
• Mothers' Views on Longer Storage of Neonatal Dried Blood Spots for Specific Secondary Uses.
  van Teeffelen Sarah R et al. Public health genomics 2016 19(1) 25-33
• Long-term follow-up in newborn screening: the role of collaboration.
  Wasserstein Melissa P et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Aug
• Long-term follow-up in newborn screening: the role of collaboration
  MP Wassertein, Genetics in Medicine, AUgust 25, 2016
• Dataset and standard operating procedure for newborn screening of six lysosomal storage diseases: By tandem mass spectrometry.
  Elliott Susan et al. Data in brief 2016 Sep 8915-24
• Development of carrier testing for common inborn errors of metabolism in the Wisconsin Plain population.
  Kuhl Ashley et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Aug
• Parental intentions to enroll children in a voluntary expanded newborn screening program.
  Paquin Ryan S et al. Social science & medicine (1982) 2016 Jul 16617-24
• High prevalence of DUOX2 gene mutations among children with congenital hypothyroidism in central China.
  Jiang Hong, et al. European journal of medical genetics 2016 8
• Parent Experience With False-Positive Newborn Screening Results for Cystic Fibrosis.
  Hayeems Robin Z et al. Pediatrics 2016 Aug

• CDC Information (12)
• CDC-Authored Pub (28)

• Human (72)
• Pathogen (0)

• Human (293)
• Pathogen (0)

• Human (213)
• Pathogen (0)

• Guidelines (11)
• Tier Table (0)
• Synthesis (25)

• Huamn (68)
• Pathogen (0)

Relevant Resources

• Cancer Genomics and Epidemiology Navigator (CGEN)
• Genetics and Genomics Competencies Center (G2C2)
• NIH Genetic Testing Registry
• NIH MedGen Database
• Online Mendelian Inheritance in Man (OMIM)
• PharmGKB