Whole-Genome Sequencing in Newborn Screening Programs

The possible introduction of whole-genome sequencing into newborn screening programs should proceed with caution. The availability of whole-genome sequencing (WGS) is likely to change the practice of population screening programs such as newborn screening (NBS). This Commentary raises key ethical, legal, and social issues surrounding WGS in NBS and suggests a need for deliberation regarding the policy challenges of introducing sequencing in such programs. Any change in the goals of NBS programs should be discussed carefully and should represent the best interests of the child.

[1]  W. G. Feero,et al.  Clinical application of whole-genome sequencing: proceed with care. , 2014, JAMA.

[2]  Carolyn J. Barg,et al.  Public views on participating in newborn screening using genome sequencing , 2014, European Journal of Human Genetics.

[3]  Pascal Borry,et al.  Reflections on the Cost of "Low-Cost" Whole Genome Sequencing: Framing the Health Policy Debate , 2013, PLoS biology.

[4]  J. Vermeesch,et al.  Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy. , 2014, Human reproduction.

[5]  Christopher H Wade,et al.  Growing up in the genomic era: implications of whole-genome sequencing for children, families, and pediatric practice. , 2013, Annual review of genomics and human genetics.

[6]  B. Knoppers,et al.  Return of whole-genome sequencing results in paediatric research: a statement of the P3G international paediatrics platform , 2013, European Journal of Human Genetics.

[7]  Marc S. Williams,et al.  ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing , 2013, Genetics in Medicine.

[8]  Matthew M Davis,et al.  Parents’ interest in whole-genome sequencing of newborns , 2013, Genetics in Medicine.

[9]  B. Knoppers,et al.  Whole-genome sequencing in health care , 2013, European Journal of Human Genetics.

[10]  Domenica Taruscio,et al.  A framework to start the debate on neonatal screening policies in the EU: an Expert Opinion Document , 2013, European Journal of Human Genetics.

[11]  A. Olshan,et al.  We screen newborns, don’t we?: realizing the promise of public health genomics , 2013, Genetics in Medicine.

[12]  P. Pharoah,et al.  What ethical and legal principles should guide the genotyping of children as part of a personalised screening programme for common cancer? , 2013, Journal of Medical Ethics.

[13]  R. Sharp,et al.  Ethical and Policy Issues in Genetic Testing and Screening of Children , 2016, Pediatric Clinical Practice Guidelines & Policies.

[14]  H. Saal,et al.  Ethical and Policy Issues in Genetic Testing and Screening of Children , 2013, Pediatrics.

[15]  Peter Saffrey,et al.  Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units , 2012, Science Translational Medicine.

[16]  B. Tarini,et al.  Ethical issues with newborn screening in the genomics era. , 2012, Annual review of genomics and human genetics.

[17]  B. Knoppers,et al.  Newborn screening programmes: Emerging biobanks? , 2012 .

[18]  E. Clayton,et al.  The legal risks of returning results of genomics research , 2012, Genetics in Medicine.

[19]  R. Sharp,et al.  The ethical hazards and programmatic challenges of genomic newborn screening. , 2012, JAMA.

[20]  Jeffrey Botkin,et al.  State Laws Regarding the Retention and Use of Residual Newborn Screening Blood Samples , 2011, Pediatrics.

[21]  A. Daly,et al.  Genome-wide association studies in pharmacogenomics , 2010, Nature Reviews Genetics.

[22]  K. Wilson,et al.  Developing a National Newborn Screening Strategy for Canada , 2010 .

[23]  S. Robertson,et al.  Newborn screening: new developments, new dilemmas , 2005, Journal of Medical Ethics.

[24]  Pascal Borry,et al.  Whole-genome sequencing in health care. Recommendations of the European Society of Human Genetics. , 2013, European journal of human genetics : EJHG.

[25]  null null,et al.  The ‘Thousand-Dollar Genome’: An Ethical Exploration , 2012 .

[26]  Public Health,et al.  Ten great public health achievements--United States, 2001-2010. , 2011, MMWR. Morbidity and mortality weekly report.

[27]  Patricia Goodson,et al.  Barriers to the provision of genetic services by primary care physicians: A systematic review of the literature , 2003, Genetics in Medicine.