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Abstract

This review highlights emerging areas of interest in public health genomics. First, we describe recent advances in newborn screening (NBS), with a focus on the practice and policy implications of current and future efforts to expand NBS programs (e.g., via next-generation sequencing). Next, we detail research findings from the rapidly progressing field of epigenetics and epigenomics, highlighting ways in which our emerging understanding in these areas could guide future intervention and research efforts in public health. We close by considering various ethical, legal, and social issues posed by recent developments in public health genomics; these include policies to regulate access to personal genomic information, the need to enhance genetic literacy in both health professionals and the public, and challenges in ensuring that the benefits (and burdens) of genomic discoveries and applications are equitably distributed. We also note needs for future genomic research that integrates across basic and social sciences.

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2014-08-31
2024-04-15
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Literature Cited

  1. Alexander D, van Dyck PC. 1.  2006. A vision of the future of newborn screening. Pediatrics 117:S350–54 [Google Scholar]
  2. 2. Am. Board Genet. Couns 2014. Home page. http://www.abgc.net.
  3. 3. Am. Coll. Med. Genet 2008. ACMG statement on direct-to-consumer genetic testing. Policy Statement, Am. Coll. Med. Genet., Bethesda, MD. https://www.acmg.net/docs/ACMG_Statement_on_DTC_4.07.08.pdf
  4. 3a. Am. Coll. Med. Genet. Genomics 2014. ACMG updates recommendation on “opt out” for genome sequencing return of results. News Release, Apr. 1, Am. Coll. Med. Genet. Genomics, Bethesda, MD. https://www.acmg.net/docs/Release_ACMGUpdatesRecommendations_final.pdf
  5. 4. Am. Soc. Hum. Genet. Board Dir., Am. Coll. Med. Genet. Board Dir 1995. Points to consider: ethical, legal, and psychosocial implications of genetic testing in children and adolescents. Am. J. Hum. Genet. 57:1233–41 [Google Scholar]
  6. Anderson OS, Sant KE, Dolinoy DC. 5.  2012. Nutrition and epigenetics: an interplay of dietary methyl donors, one-carbon metabolism and DNA methylation. J. Nutr. Biochem. 23:853–59 [Google Scholar]
  7. Barker DJP, Eriksson JG, Forsén T, Osmond C. 6.  2002. Fetal origins of adult disease: strength of effects and biological basis. Int. J. Epidemiol. 31:1235–39 [Google Scholar]
  8. Barouki R, Gluckman PD, Grandjean P, Hanson M, Heindel JJ. 7.  2012. Developmental origins of non-communicable disease: implications for research and public health. Environ. Health 11:42–51 [Google Scholar]
  9. Bekdash RA, Zhang C, Sarkar DK. 8.  2013. Gestational choline supplementation normalized fetal alcohol-induced alterations in histone modifications, DNA methylation, and proopiomelanocortin (POMC) gene expression in β-endorphin-producing POMC neurons of the hypothalamus. Alcohol. Clin. Exp. Res. 37:1133–42 [Google Scholar]
  10. Berry SA, Brown C, Grant M, Greene CL, Jurecki E. 9.  et al. 2013. Newborn screening 50 years later: access issues faced by adults with PKU. Genet. Med. 15:591–99 [Google Scholar]
  11. Bollati V, Baccarelli A. 10.  2010. Environmental epigenetics. Heredity 105:105–12 [Google Scholar]
  12. Bombard Y, Veenstra G, Friedman JM, Creighton S, Currie L. 11.  et al. 2009. Perceptions of genetic discrimination among people at risk for Huntington's disease: a cross sectional survey. BMJ 338:b2175 [Google Scholar]
  13. Botkin JR, Goldenberg AJ, Rothwell E, Anderson RA, Lewis MH. 12.  2013. Retention and research use of residual newborn screening bloodspots. Pediatrics 131:120–27 [Google Scholar]
  14. Burke W, Khoury M, Stewart A, Zimmern R. 13.  2006. The path from genome-based research to population health: development of an international public health genomics network. Genet. Med. 8:451–58 [Google Scholar]
  15. Burke W, Matheny Antommaria AH, Bennett R, Botkin J, Clayton EW. 14.  et al. 2013. Recommendations for returning genomic incidental findings? We need to talk. ! Genet. Med. 15:854–59 [Google Scholar]
  16. Bustamante CD, Burchard EG, De La Vega FM. 15.  2011. Genomics for the world. Nature 475:163–65 [Google Scholar]
  17. Camp KM, Lloyd-Puryear MA, Huntington KL. 16.  2012. Nutritional treatment for inborn errors of metabolism: indications, regulations, and availability of medical foods and dietary supplements using phenylketonuria as an example. Mol. Genet. Metab. 107:3–9 [Google Scholar]
  18. 17. Cent. Dis. Control Prev 2012. CDC grand rounds: newborn screening and improved outcomes. Morb. Mortal. Wkly. Rep. 61:390–93 [Google Scholar]
  19. 18. Cent. Dis. Control Prev 2013. Pediatric genetics: newborn screening. http://www.cdc.gov/ncbddd/pediatricgenetics/newborn_screening.html
  20. Chao S, Roberts JS, Marteau TM, Silliman R, Cupples LA, Green RC. 19.  2008. Health behavior changes after genetic risk assessment for Alzheimer disease: the REVEAL study. Alzheimer Dis. Assoc. Disord. 22:94–97 [Google Scholar]
  21. Collotta M, Bertazzi PA, Bollati V. 20.  2013. Epigenetics and pesticides. Toxicology 307:35–41 [Google Scholar]
  22. Comeau AM, Accurso FJ, White TB, Campbell PW, Hoffman G. 21.  et al. 2007. Guidelines for implementation of cystic fibrosis newborn screening programs: Cystic Fibrosis Foundation workshop report. Pediatrics 119:e495–518 [Google Scholar]
  23. 22. Comm. Genet 2008. Maternal phenylketonuria. Pediatrics 122:445–49 [Google Scholar]
  24. Cortessis VK, Thomas DC, Levine AJ, Breton CV, Mack TM. 23.  et al. 2012. Environmental epigenetics: prospects for studying epigenetic mediation of exposure-response relationships. Hum. Genet. 131:1565–89 [Google Scholar]
  25. Crews KR, Hicks JK, Pui C-H, Relling MV, Evans WE. 24.  2012. Pharmacogenomics and individualized medicine: translating science into practice. Clin. Pharmacol. Ther. 92:467–75 [Google Scholar]
  26. Davis DS. 25.  1997. Genetic dilemmas and the child's right to an open future. Hastings Cent. Rep. 27:7–15 [Google Scholar]
  27. DePristo MA, Banks E, Poplin R, Garimella KV, Maguire JR. 26.  et al. 2011. A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat. Genet. 43:491–98 [Google Scholar]
  28. Dolinoy DC, Faulk C. 27.  2012. Introduction: the use of animals models to advance epigenetic science. ILAR J. 53:227–31 [Google Scholar]
  29. Dolinoy DC, Huang D, Jirtle RL. 28.  2007. Maternal nutrient supplementation counteracts bisphenol A-induced DNA hypomethylation in early development. Proc. Natl. Acad. Sci. USA 104:13056–61 [Google Scholar]
  30. Dolinoy DC, Weidman JR, Waterland RA, Jirtle RL. 29.  2006. Maternal genistein alters coat color and protects Avy mouse offspring from obesity by modifying the fetal epigenome. Environ. Health Perspect. 114:567–72 [Google Scholar]
  31. Dolinoy DC, Weinhouse C, Jones TR, Rozek LS, Jirtle RL. 30.  2010. Variable histone modifications at the Avy metastable epiallele. Epigenetics 5:637–44 [Google Scholar]
  32. 31. Eur. Soc. Hum. Genet 2009. Genetic testing in asymptomatic minors: recommendations of the European Society of Human Genetics. Eur. J. Hum. Genet. 17:238–51 [Google Scholar]
  33. Evans JP, Meslin EM, Marteau TM, Caulfield T. 32.  2011. Deflating the genomic bubble. Science 331:861–62 [Google Scholar]
  34. Faulk C, Dolinoy DC. 33.  2011. Timing is everything: the when and how of environmentally induced changes in the epigenome of animals. Epigenetics 6:791–97 [Google Scholar]
  35. Fraga MF, Ballestar E, Paz MF, Ropero S, Setien F. 34.  et al. 2005. Epigenetic differences arise during the lifetime of monozygotic twins. Proc. Natl. Acad. Sci. USA 102:10604–9 [Google Scholar]
  36. 35. Genet. Alliance 2013. Baby's First Test: conditions screened by state. http://www.babysfirsttest.org/newborn-screening/states
  37. Geronimus AT. 36.  2013. Deep integration: letting the epigenome out of the bottle without losing sight of the structural origins of population health. Am. J. Public Health 103:S56–63 [Google Scholar]
  38. Gigerenzer G, Edwards A. 37.  2003. Simple tools for understanding risks: from innumeracy to insight. BMJ 327:741–44 [Google Scholar]
  39. Gluckman PD, Hanson MA, Cooper C, Thornburg KL. 38.  2008. Effect of in utero and early-life conditions on adult health and disease. N. Engl. J. Med. 359:61–73 [Google Scholar]
  40. Goldenberg AJ, Sharp RR. 39.  2012. The ethical hazards and programmatic challenges of genomic newborn screening. JAMA 307:461–62 [Google Scholar]
  41. Gostin LO. 40.  2000. Public Health Law: Power, Duty, Restraint Berkeley: Univ. Calif. Press
  42. Gostin LO, Powers M. 41.  2006. What does social justice require for the public's health? Public health ethics and policy imperatives. Health Aff. 25:1053–60 [Google Scholar]
  43. Green RC, Berg JS, Grody WW, Kalia SS, Korf BR. 42.  et al. 2013. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet. Med. 15:565–74 [Google Scholar]
  44. Grosse SD, Boyle CA, Kenneson A, Khoury MJ, Wilfond BS. 43.  2006. From public health emergency to public health service: the implications of evolving criteria for newborn screening panels. Pediatrics 117:923–29 [Google Scholar]
  45. Grosse SD, Rogowski WH, Ross LF, Cornel MC, Dondorp WJ, Khoury MJ. 44.  2010. Population screening for genetic disorders in the 21st century: evidence, economics, and ethics. Public Health Genomics 13:106–15 [Google Scholar]
  46. Gurian EA, Kinnamon DD, Henry JJ, Waisbren SE. 45.  2006. Expanded newborn screening for biochemical disorders: the effect of a false-positive result. Pediatrics 117:1915–21 [Google Scholar]
  47. Gutierrez A. 46.  2013. 23andMe, Inc. 11/22/13 Warn. Lett., US Food Drug Admin., Silver Spring, MD. http://www.fda.gov/ICECI/EnforcementActions/WarningLetters/2013/ucm376296.htm [Google Scholar]
  48. Guttmacher AE, Jenkins J, Uhlmann WR. 47.  2001. Genomic medicine: Who will practice it? A call to open arms. Am. J. Med. Genet. 106:216–22 [Google Scholar]
  49. Hajkova P, Erhardt S, Lane N, Haaf T, El-Maarri O. 48.  et al. 2002. Epigenetic reprogramming in mouse primordial germ cells. Mech. Dev. 117:15–23 [Google Scholar]
  50. 49. Health Resour. Serv. Adm 2013. Discretionary Advisory Committee on Heritable Disorders in Newborns and Children. http://www.hrsa.gov/advisorycommittees/mchbadvisory/heritabledisorders
  51. Hinton CF, Feuchtbaum L, Kus CA, Kemper AR, Berry SA. 50.  et al. 2011. What questions should newborn screening long-term follow-up be able to answer? A statement of the US Secretary for Health and Human Services' Advisory Committee on Heritable Disorders in Newborns and Children. Genet. Med. 13:861–65 [Google Scholar]
  52. Hoff T, Ayoob M, Therrell BL. 51.  2007. Long-term follow-up data collection and use in state newborn screening programs. Arch. Pediatr. Adolesc. Med. 161:994–1000 [Google Scholar]
  53. Hoff T, Hoyt A, Therrell B, Ayoob M. 52.  2006. Exploring barriers to long-term follow-up in newborn screening programs. Genet. Med. 8:563–70 [Google Scholar]
  54. Holliday R, Pugh JE. 53.  1975. DNA modification mechanisms and gene activity during development. Science 187:226–32 [Google Scholar]
  55. Hudson K, Javitt G, Burke W, Byers P. 54.  2007. ASHG statement on direct-to-consumer genetic testing in the United States. Obstet. Gynecol. 110:1392–95 [Google Scholar]
  56. 55. Inst. Med 2004. Health literacy: a prescription to end confusion. Rep., Natl. Acad. Sci., Washington, DC
  57. Jiménez-Díaz I, Zafra-Gómez A, Ballesteros O, Navea N, Navalón A. 56.  et al. 2010. Determination of bisphenol A and its chlorinated derivatives in placental tissue samples by liquid chromatography-tandem mass spectrometry. J. Chromatogr. B 878:3363–69 [Google Scholar]
  58. Jirtle RL, Skinner MK. 57.  2007. Environmental epigenomics and disease susceptibility. Nat. Rev. Genet. 8:253–62 [Google Scholar]
  59. Kemper AR, Hwu W-L, Lloyd-Puryear M, Kishnani PS. 58.  2007. Newborn screening for Pompe disease: synthesis of the evidence and development of screening recommendations. Pediatrics 120:e1327–34 [Google Scholar]
  60. King E, Shih G, Ratnapradipa D, Quilliam DN, Morton J, Magee SR. 59.  2013. Mercury, lead, and cadmium in umbilical cord blood. J. Environ. Health 75:38–43 [Google Scholar]
  61. Kohane IS, Masys DR, Altman RB. 60.  2006. The incidentalome: a threat to genomic medicine. JAMA 296:212–15 [Google Scholar]
  62. Kopits IM, Chen C, Roberts JS, Uhlmann W, Green RC. 61.  2011. Willingness to pay for genetic testing for Alzheimer's disease: a measure of personal utility. Genet. Test. Mol. Biomark. 15:871–75 [Google Scholar]
  63. Korobkin R, Rajkumar R. 62.  2008. The Genetic Information Nondiscrimination Act—a half-step toward risk sharing. N. Engl. J. Med. 359:335–37 [Google Scholar]
  64. Krueger C, Horesh E, Crossland BA. 63.  2012. Safe sound exposure in the fetus and preterm infant. J. Obstet. Gynecol. Neonatal Nurs. 41:166–70 [Google Scholar]
  65. Kwon JM, Steiner RD. 64.  2011. “I'm fine; I'm just waiting for my disease”: the new and growing class of presymptomatic patients. Neurology 77:522–23 [Google Scholar]
  66. Laird PW. 65.  2010. Principles and challenges of genomewide DNA methylation analysis. Nat. Rev. Genet. 11:191–203 [Google Scholar]
  67. Lewis MH, Goldenberg A, Anderson R, Rothwell E, Botkin J. 66.  2011. State laws regarding the retention and use of residual newborn screening blood samples. Pediatrics 127:703–12 [Google Scholar]
  68. Lipkus IM. 67.  2007. Numeric, verbal, and visual formats of conveying health risks: suggested best practices and future recommendations. Med. Decis. Making 27:696–713 [Google Scholar]
  69. Lloyd-Puryear MA, Tonniges T, van Dyck PC, Mann MY, Brin A. 68.  et al. 2006. American Academy of Pediatrics Newborn Screening Task Force recommendations: How far have we come?. Pediatrics 117:S194–211 [Google Scholar]
  70. Macleod EL, Ney DM. 69.  2010. Nutritional management of phenylketonuria. Ann. Nestlé Engl. 68:58–69 [Google Scholar]
  71. Mandl KD, Feit S, Larson C, Kohane IS. 70.  2002. Newborn screening program practices in the United States: notification, research, and consent. Pediatrics 109:269–73 [Google Scholar]
  72. Manikkam M, Guerrero-Bosagna C, Tracey R, Haque MM, Skinner MK. 71.  2012. Transgenerational actions of environmental compounds on reproductive disease and identification of epigenetic biomarkers of ancestral exposures. PLoS ONE 7:e31901 [Google Scholar]
  73. Marchini J, Howie B. 72.  2010. Genotype imputation for genome-wide association studies. Nat. Rev. Genet. 11:499–511 [Google Scholar]
  74. Marteau T, Senior V, Humphries SE, Bobrow M, Cranston T. 73.  et al. 2004. Psychological impact of genetic testing for familial hypercholesterolemia within a previously aware population: a randomized controlled trial. Am. J. Med. Genet. A 128A:285–93 [Google Scholar]
  75. Martinez-Arguelles DB, Campioli E, Culty M, Zirkin BR, Papadopoulos V. 74.  2013. Fetal origin of endocrine dysfunction in the adult: the phthalate model. J. Steroid Biochem. Mol. Biol. 137:5–17 [Google Scholar]
  76. McBride CM, Koehly LM, Sanderson SC, Kaphingst KA. 75.  2010. The behavioral response to personalized genetic information: Will genetic risk profiles motivate individuals and families to choose more healthful behaviors?. Annu. Rev. Public Health 31:89–103 [Google Scholar]
  77. McCandless SE, Chandrasekar R, Linard S, Kikano S, Rice L. 76.  2013. Sequencing from dried blood spots in infants with “false positive” newborn screen for MCAD deficiency. Mol. Genet. Metab. 108:51–55 [Google Scholar]
  78. McCann PJC. 77.  2009. Agency discretion and public health service delivery. Health Serv. Res. 44:1897–908 [Google Scholar]
  79. McCarthy MI, Abecasis GR, Cardon LR, Goldstein DB, Little J. 78.  et al. 2008. Genome-wide association studies for complex traits: consensus, uncertainty and challenges. Nat. Rev. Genet. 9:356–69 [Google Scholar]
  80. McGuire AL, Burke W. 79.  2008. An unwelcome side effect of direct-to-consumer personal genome testing: raiding the medical commons. JAMA 300:2669–71 [Google Scholar]
  81. Mikail CN. 80.  2008. Public Health Genomics: The Essentials San Francisco: Jossey-Bass
  82. Mirnezami R, Nicholson J, Darzi A. 81.  2012. Preparing for precision medicine. N. Engl. J. Med. 366:489–91 [Google Scholar]
  83. Motsinger-Reif AA, Jorgenson E, Relling MV, Kroetz DL, Weinshilboum R. 82.  et al. 2013. Genome-wide association studies in pharmacogenomics: successes and lessons. Pharmacogenet. Genomics 23:383–94 [Google Scholar]
  84. Moyer VA, Calonge N, Teutsch SM, Botkin JR. 83.  2008. Expanding newborn screening: process, policy, and priorities. Hastings Cent. Rep. 38:32–39 [Google Scholar]
  85. Murrell A, Rakyan VK, Beck S. 84.  2005. From genome to epigenome. Hum. Mol. Genet. 14:R3–R10 [Google Scholar]
  86. Nahar MS, Liao C, Kannan K, Dolinoy DC. 85.  2013. Fetal liver bisphenol A concentrations and biotransformation gene expression reveal variable exposure and altered capacity for metabolism in humans. J. Biochem. Mol. Toxicol. 27:116–23 [Google Scholar]
  87. 86. Natl. Hum. Genome Res. Inst 2014. Clinical Sequencing Exploratory Research (CSER). Updated Apr. 1. http://www.genome.gov/27546194 [Google Scholar]
  88. 87. Natl. Inst. Health 2013. NIH program explores the use of genomic sequencing in newborn healthcare. News Release, Sept. 4, Natl. Inst. Health, Bethesda, MD. http://www.nih.gov/news/health/sep2013/nhgri-04.htm
  89. 88. Natl. Newborn Screen. Genet. Resour. Cent 2003. National newborn screening report - 2000. Rep., Natl. Newborn Screen. Genet. Resour. Cent., Austin, TX. http://genes-r-us.uthscsa.edu/sites/genes-r-us/files/resources/newborn/00/2000Report.pdf
  90. 89. Natl. Soc. Genet. Couns 2013. What is genetic counseling? http://nsgc.org/p/cm/ld/fid=43
  91. Neumann PJ, Cohen JT, Hammitt JK, Concannon TW, Auerbach HR. 90.  et al. 2012. Willingness-to-pay for predictive tests with no immediate treatment implications: a survey of US residents. Health Econ. 21:238–51 [Google Scholar]
  92. Neumann PJ, Hammitt JK, Mueller C, Fillit HM, Hill J. 91.  et al. 2001. Public attitudes about genetic testing for Alzheimer's disease. Health Aff. 20:252–64 [Google Scholar]
  93. Newbold RR. 92.  2004. Lessons learned from perinatal exposure to diethylstilbestrol. Toxicol. Appl. Pharmacol. 199:142–50 [Google Scholar]
  94. 93. Newborn Screen. Authoring Comm 2008. Newborn screening expands: recommendations for pediatricians and medical homes—implications for the system. Pediatrics 121:192–217 [Google Scholar]
  95. Nguyen CP, Goodman LH. 94.  2012. Fetal risk in diagnostic radiology. Semin. Ultrasound CT MRI 33:4–10 [Google Scholar]
  96. Nielsen R, Paul JS, Albrechtsen A, Song YS. 95.  2011. Genotype and SNP calling from next-generation sequencing data. Nat. Rev. Genet. 12:443–51 [Google Scholar]
  97. Nilsson E, Larsen G, Manikkam M, Guerrero-Bosagna C, Savenkova MI, Skinner MK. 96.  2012. Environmentally induced epigenetic transgenerational inheritance of ovarian disease. PLoS ONE 7:e36129 [Google Scholar]
  98. Petronis A. 97.  2006. Epigenetics and twins: three variations on the theme. Trends Genet. 22:347–50 [Google Scholar]
  99. Phelan JC, Yang LH, Cruz-Rojas R. 98.  2006. Effects of attributing serious mental illnesses to genetic causes on orientations to treatment. Psychiatr. Serv. 57:382–87 [Google Scholar]
  100. Platt LD, Koch R, Hanley WB, Levy HL, Matalon R. 99.  et al. 2000. The international study of pregnancy outcome in women with maternal phenylketonuria: report of a 12-year study. Am. J. Obstet. Gynecol. 182:326–33 [Google Scholar]
  101. 100. Pres. Counc. Bioeth 2008. The changing moral focus of newborn screening: an ethical analysis by the President's Council on Bioethics. Rep., Pres. Counc. Bioeth., Washington, DC. https://bioethicsarchive.georgetown.edu/pcbe/reports/newborn_screening
  102. Ravitsky V, Wilfond BS. 101.  2006. Disclosing individual genetic results to research participants. Am. J. Bioeth. 6:8–17 [Google Scholar]
  103. Roberts JS, LaRusse SA, Katzen H, Whitehouse PJ, Barber M. 102.  et al. 2003. Reasons for seeking genetic susceptibility testing among first-degree relatives of people with Alzheimer disease. Alzheimer Dis. Assoc. Disord. 17:86–93 [Google Scholar]
  104. Roberts JS, Ostergren J. 103.  2013. Direct-to-consumer genetic testing and personal genomics services: a review of recent empirical studies. Curr. Genet. Med. Rep. 1:182–200 [Google Scholar]
  105. Rothstein MA. 104.  2013. Epigenetic exceptionalism. J. Law Med. Ethics 41:733–36 [Google Scholar]
  106. Roychowdhury S, Chinnaiyan AM. 105.  2013. Advancing precision medicine for prostate cancer through genomics. J. Clin. Oncol. 31:1866–73 [Google Scholar]
  107. Sankar P, Cho MK, Condit CM, Hunt LM, Koenig B. 106.  et al. 2004. Genetic research and health disparities. JAMA 291:2985–89 [Google Scholar]
  108. Senior V, Marteau TM. 107.  2007. Causal attributions for raised cholesterol and perceptions of effective risk-reduction: self-regulation strategies for an increased risk of coronary heart disease. Psychol. Health 22:699–717 [Google Scholar]
  109. Shalowitz DI, Miller FG. 108.  2008. Communicating the results of clinical research to participants: attitudes, practices, and future directions. PLoS Med. 5:e91 [Google Scholar]
  110. Shen L, Kondo Y, Guo Y, Zhang J, Zhang L. 109.  et al. 2007. Genome-wide profiling of DNA methylation reveals a class of normally methylated CPG island promoters. PLoS Genet. 3:2023–36 [Google Scholar]
  111. Singleton A, Erby LH, Foisie KV, Kaphingst KA. 110.  2012. Informed choice in direct-to-consumer genetic testing (DTCGT) websites: a content analysis of benefits, risks, and limitations. J. Genet. Couns. 21:433–39 [Google Scholar]
  112. Skinner MK, Manikkam M, Guerrero-Bosagna C. 111.  2011. Epigenetic transgenerational actions of endocrine disruptors. Reprod. Toxicol. 31:337–43 [Google Scholar]
  113. Solomon BD, Pineda-Alvarez DE, Bear KA, Mullikin JC, Evans JP. 112.  2012. Applying genomic analysis to newborn screening. Mol. Syndromol. 3:59–67 [Google Scholar]
  114. Stoddard JJ, Farrell PM. 113.  1997. State-to-state variations in newborn screening policies. Arch. Pediatr. Adolesc. Med. 151:561–64 [Google Scholar]
  115. Tarini BA. 114.  2011. Storage and use of residual newborn screening blood spots: a public policy emergency. Genet. Med. 13:619–20 [Google Scholar]
  116. Tarini BA, Christakis DA, Welch HG. 115.  2006. State newborn screening in the tandem mass spectrometry era: more tests, more false-positive results. Pediatrics 118:448–56 [Google Scholar]
  117. Tarini BA, Goldenberg AJ. 116.  2012. Ethical issues with newborn screening in the genomics era. Annu. Rev. Genomics Hum. Genet. 13:381–93 [Google Scholar]
  118. Taylor DH, Cook-Deegan RM, Hiraki S, Roberts JS, Blazer DG, Green RC. 117.  2010. Genetic testing for Alzheimer's and long-term care insurance. Health Aff. 29:102–8 [Google Scholar]
  119. Teschendorff AE, West J, Beck S. 118.  2013. Age-associated epigenetic drift: implications, and a case of epigenetic thrift?. Hum. Mol. Genet. 22:R7–R15 [Google Scholar]
  120. Timmermans S, Buchbinder M. 119.  2010. Patients-in-waiting: living between sickness and health in the genomics era. J. Health Soc. Behav. 51:408–23 [Google Scholar]
  121. Tluczek A, Koscik RL, Farrell PM, Rock MJ. 120.  2005. Psychosocial risk associated with newborn screening for cystic fibrosis: parents' experience while awaiting the sweat-test appointment. Pediatrics 115:1692–703 [Google Scholar]
  122. Vandenberg LN, Colborn T, Hayes TB, Heindel JJ, Jacobs DR. 121.  et al. 2012. Hormones and endocrine-disrupting chemicals: low-dose effects and nonmonotonic dose responses. Endocr. Rev. 33:378–455 [Google Scholar]
  123. Vernarelli JA, Roberts JS, Hiraki S, Chen CA, Cupples LA, Green RC. 122.  2010. Effect of Alzheimer disease genetic risk disclosure on dietary supplement use. Am. J. Clin. Nutr. 91:1402–7 [Google Scholar]
  124. Waddington CH. 123.  1940. Organisers and Genes Cambridge, UK: Cambridge Univ. Press
  125. Waisbren SE, Albers S, Amato S, Ampola M, Brewster TG. 124.  et al. 2003. Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress. JAMA 290:2564–72 [Google Scholar]
  126. Waterland RA, Jirtle RL. 125.  2003. Transposable elements: targets for early nutritional effects on epigenetic gene regulation. Mol. Cell. Biol. 23:5293–300 [Google Scholar]
  127. Wei C, Lu Q, Khoo SK, Lenski M, Fichorova RN. 126.  et al. 2014. Comparison of frozen and unfrozen blood spots for gene expression studies. J. Pediatr. 164:189–91 [Google Scholar]
  128. Wenzel A, Gorman LL, O'Hara MW, Stuart S. 127.  2001. The occurrence of panic and obsessive compulsive symptoms in women with postpartum dysphoria: a prospective study. Arch. Women's Ment. Health 4:5–12 [Google Scholar]
  129. Wenzel A, Haugen EN, Jackson LC, Brendle JR. 128.  2005. Anxiety symptoms and disorders at eight weeks postpartum. J. Anxiety Disord. 19:295–311 [Google Scholar]
  130. Wenzel A, Haugen EN, Jackson LC, Robinson K. 129.  2003. Prevalence of generalized anxiety at eight weeks postpartum. Arch. Women's Ment. Health 6:43–49 [Google Scholar]
  131. Wetterstrand KA. 130.  2014. DNA sequencing costs: data from the NHGRI Genome Sequencing Program (GSP) Updated Apr. 8. http://www.genome.gov/sequencingcosts [Google Scholar]
  132. Wigle DT, Arbuckle TE, Walker M, Wade MG, Liu S, Krewski D. 131.  2007. Environmental hazards: evidence for effects on child health. J. Toxicol. Environ. Health B 10:3–39 [Google Scholar]
  133. Wilfond B, Ross LF. 132.  2009. From genetics to genomics: ethics, policy, and parental decision-making. J. Pediatr. Psychol. 34:639–47 [Google Scholar]
  134. Wilson JMG, Jungner G. 133.  1968. Principles and Practice of Screening for Disease Geneva: World Health Organ.
  135. Wolf SM, Crock BN, Van Ness B, Lawrenz F, Kahn JP. 134.  et al. 2012. Managing incidental findings and research results in genomic research involving biobanks and archived data sets. Genet. Med. 14:361–84 [Google Scholar]
  136. Woloshin S, Schwartz LM, Welch HG. 135.  2008. Know Your Chances: Understanding Health Statistics Berkeley: Univ. Calif. Press
  137. Youngson NA, Whitelaw E. 136.  2008. Transgenerational epigenetic effects. Annu. Rev. Genomics Hum. Genet. 9:233–57 [Google Scholar]
  138. Zick CD, Mathews CJ, Roberts JS, Cook-Deegan R, Pokorski RJ, Green RC. 137.  2005. Genetic testing for Alzheimer's disease and its impact on insurance purchasing behavior. Health Aff. 24:483–90 [Google Scholar]
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