Krier JB, Kalia SS, Green RC. Genomic sequencing in clinical practice: applications, challenges, and opportunities. Dialogues Clin Neurosci
Biesecker LG, Green RC. Diagnostic clinical genome and exome sequencing. N Engl J Med. 2014;371:1170.
Vassy JL, Christensen KD, Schonman EF, et al. The impact of whole-genome sequencing on the primary care and outcomes of health adult patients: a pilot randomized trial. Ann Intern Med. 2017;167:159–169.
Berg J, Agrawal P, Bailey D, et al. Newborn sequencing in genomic medicine and public health. Pediatrics 2017;139:e20162252.
Birsoy O, Machini K, Lebo M, et al. A curated gene list for reporting results in newborn genomic sequencing. Genet Med. 2016;19:809–818.
Petrikin JE, Cakici JA, Clark MM, et al. The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants. NPJ Genom Med. 2018;3:6.
Frankel LA, Pereira S, McGuire AL. Potential psychosocial risks of sequencing newborns. Pediatrics. 2016;137(suppl 1):S24–29.
Botkin JR, Belmont JW, Berg JS, et al. Points to consider: ethical, legal, and psychosocial implications of genetic testing in children and adolescents. Am J Hum Genet
Waisbren SE, Bäck DK, Liu C, et al. Parents are interested in newborn genomic testing during the early postpartum period. Genet Med
Holm I, Agrawal P, Ceyhan-Birsoy O, et al. The BabySeq project: implementing genomic sequencing in newborns. BMC Pediatrics. 2018;18:225.
Bodian DL, Klein E, Iyer RK, et al. Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1,696 neonates. Genet Med. 2016;18:221–230.
Foglia EE, Nolen TL, DeMauro SB, et al. Short-term outcomes of infants enrolled in randomized clinical trials vs those eligible but not enrolled. JAMA. 2015;313:2377–2379.
Rich W, Finer NN, Gantz MG, et al. Enrollment of extremely low birth weight infants in a clinical research study may not be representative. Pediatrics. 2012;129:480–484.
Maayan-Metzger A, Kedem-Friedrich P, Kuint J. Motivations of mothers to enroll their newborn infants in general clinical research on well-infant care and development. Pediatrics. 2008;121:e590–596.
Skinner D, Choudhury S, Sideris J, et al. Parents’ decisions to screen newborns for FMR1 gene expansions in a pilot research project. Pediatrics. 2011;127:e1455–63.
Lernmark B, Johnson SB, Vehik K, et al. Enrollment experiences in a pediatric longitudinal observational study: The Environmental Determinants of Diabetes in the Young (TEDDY) study. Contemp Clin Trials. 2011;32:517–523.
Hamvas A, Madden KK, Nogee LM, et al. Informed consent for genetic research. Arch Pediatr Adolesc Med. 2004;158:551–555.
Tabor HK, Stock J, Brazg T, et al. Informed consent for whole genome sequencing: a qualitative analysis of participant expectations and perceptions of risks, benefits, and harms. Am J Med Genet A. 2012;158A:1310–1319.
Robinson JO, Carroll TM, Feuerman LZ, et al. Participants and study decliners’ perspectives about the risks of participating in a clinical trial of whole genome sequencing. J Empir Res Hum Res Ethics. 2016;11:21–30.
Green RC, Lautenbach D, McGuire AL. GINA, genetic discrimination, and genomic medicine. N Engl J Med
Amendola LM, Robinson JO, Hart R, et al. Why patients decline genomic sequencing studies: experiences from the CSER consortium. J Genet Couns 2018. [Epub ahead of print]
National Human Genome Research Institute. Genetic Information Nondiscrimination Act (GINA) of 2008. http://www.genome.gov/24519851. Accessed August 18, 2009.
National Conference of State Legislatures. Genetics and health insurance state anti-discrimination laws. 2008. http://www.ncsl.org/research/health/genetic-nondiscrimination-in-health-insurance-laws.aspx. Accessed March 14, 2018.
Stark Z, Tan TY, Chong B, et al. A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. Genet Med. 2016;18:1090–1096.
Singhal N, Oberle K, Burgess E, Huber-Okrainec J. Parents’ perceptions of research with newborns. J Perinatol
Golec L, Gibbins S, Dunn MS, Hebert P. Informed consent in the NICU setting: an ethically optimal model for research solicitation. J Perinatol. 2004;24:783–791.
Pew Research Center. For most highly educated women, motherhood doesn’t start until the 30s. 2015. http://www.pewresearch.org/fact-tank/2015/01/15/for-most-highly-educated-women-motherhood-doesnt-start-until-the-30s. Accessed May 16, 2018.
Centers for Disease Control and Prevention. User guide to the 2016 Natality Public Use File. 2016. https://www.cdc.gov/nchs/data_access/vitalstatsonline.htm. Accessed May 16, 2018.
Waisbren SE, Weipert CM, Walsh RC, Petty CR, Green RC. Psychosocial factors influencing parental interest in genomic sequencing of newborns. Pediatrics. 2016;137(suppl 1):S30–5.
Goldenberg AJ, Dodson DS, Davis MS, Tarini BA. Parents’ interest in whole-genome sequencing of newborns. Genet Med. 2013;16:78–84.