Public views on participating in newborn screening using genome sequencing

European Journal of Human Genetics

Volumn 22, Issue 11, 2014, Pages 1248-1254

  Bombard, Yvonne ^a,b   Miller, Fiona A ^b   Hayeems, Robin Z ^b   Barg, Carolyn ^b   Cressman, Celine ^b   Carroll, June C ^c   Wilson, Brenda J ^d   Little, Julian ^d   Avard, Denise ^e   Painter Main, Michael ^f   Allanson, Judith ^d,g   Giguere, Yves ^h,i   Chakraborty, Pranesh ^d,g  

^a ST MICHAEL'S HOSPITAL   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

^c UNIVERSITY OF TORONTO   (Canada)

^d UNIVERSITY OF OTTAWA   (Canada)

^e MCGILL UNIVERSITY   (Canada)

^f UNIVERSITY OF TORONTO   (Canada)

^g CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^h LAVAL UNIVERSITY   (Canada)

ⁱ UNIVERSITÉ LAVAL   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; ATTITUDE; AUTHORITY; CANADIAN; CROSS-SECTIONAL STUDY; EXOME; FEMALE; GENE SEQUENCE; GENOME; HEALTH BELIEF; HEALTH SURVEY; HUMAN; INTERNET; MALE; NEWBORN SCREENING; PUBLIC HEALTH; PUBLIC OPINION; RESPONSIBILITY; SELF CONCEPT; SELF REPORT; ADOLESCENT; ATTITUDE TO HEALTH; CANADA; GENETIC SCREENING; HUMAN GENOME; MIDDLE AGED; NEWBORN; PATIENT PARTICIPATION; PROCEDURES; QUESTIONNAIRE; SEQUENCE ANALYSIS; SOCIOECONOMICS; STATISTICS AND NUMERICAL DATA; YOUNG ADULT;

ADOLESCENT; ADULT; CANADA; CROSS-SECTIONAL STUDIES; EXOME; FEMALE; GENETIC TESTING; GENOME, HUMAN; HEALTH KNOWLEDGE, ATTITUDES, PRACTICE; HUMANS; INFANT, NEWBORN; INTERNET; MALE; MIDDLE AGED; NEONATAL SCREENING; PATIENT PARTICIPATION; PUBLIC OPINION; QUESTIONNAIRES; SEQUENCE ANALYSIS; SOCIOECONOMIC FACTORS; YOUNG ADULT;

EID: 84908550914     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.22     Document Type: Article

References (46)

1. Goldenberg AJ, Sharp RR: The ethical hazards and programmatic challenges of genomic newborn screening. JAMA 2012; 307: 461-462.
2. National Institute of Child Health and Human Development. Newborn screening in the genomic era: setting a research agenda. 2011. http://www.nichd.nih.gov/about/ meetings/2010/121410.cfm (accessed 26 March 2013).
3. Bombard Y, Bach P, Offit K: Translating genomics in cancer care. J Natl Compr Canc Netw 2013; 11: 1343-1353.
4. Saunders CJ, Miller NA, Soden SE et al: Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units. Sci Transl Med 2012; 4: 154ra135.
5. Solomon B, Pineda-Alvarez D, Bear K, Mullikin J, Evans J: Applying genomic analysis to newborn screening. Mol Syndromol 2012; 3: 59-67.
6. Kuehn BM: After 50 years, newborn screening continues to yield public health gains. JAMA 2013; 309: 1215-1217.
7. Watson MS, Lloyd-Puryear MA, Mann MY, Rinaldo P, Howell RR: Newborn screening: toward a uniform screening panel and system. Genet Med 2006; 8: 12S-252S.
8. Kemper AR, Green NS, Calonge N et al: Decision-making process for conditions nominated to the recommended uniform screening panel: statement of the US Department of Health and Human Services Secretary/'s advisory committee on heritable disorders in newborns and children. Genet Med 2014; 16: 183-187.
9. Morrison A, Dowler J: Newborn Screening for Disorders and Abnormalities in Canada. Ottawa: Canadian Agency for Drugs and Technologies in Health, 2011.
10. Cassa CA, Savage SK, Taylor PL, Green RC, McGuire AL, Mandl KD: Disclosing pathogenic genetic variants to research participants: quantifying an emerging ethical responsibility. Genome Res. 2012; 22: 421-428.
11. Green RC, Berg JS, Grody WW et al: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med 2013; 15: 565-574.
12. Allyse M, Michie M: Not-so-incidental findings: the ACMG recommendations on the reporting of incidental findings in clinical whole genome and whole exome sequencing. Trends Biotechnol 2013; 31: 439-441.
13. Wolf SM, Annas GJ, Elias S: Point-counterpoint patient autonomy and incidental findings in clinical genomics. Science 2013; 340: 1049-1050.
14. van El CG, Cornel MC, Borry P et al: Whole-genome sequencing in health care. Eur J Hum Genet 2013; 21: 580-584.
15. PHG Foundation. American College of Medical Genetics and Genomics Recommendations. Cambridge, UK: Public Health Genomics Foundation, 2013.
16. Miller FA, Robert JS, Hayeems RZ: Questioning the consensus: managing carrier status results generated by newborn screening. Am J Public Health 2009; 99: 210.
17. Bombard Y, Miller FA, Hayeems RZ, Avard D, Knoppers BM: Reconsidering reproductive benefit through newborn screening: a systematic review of guidelines on preconception, prenatal and newborn screening. Eur J Hum Genet 2010; 18: 751-760.
18. Bombard Y, Grob R, Schlesinger M: Genome sequencing in newborn screening: incidental findings, policy legacies and the imperative for improved governance. (Submitted).
19. Hayeems RZ, Miller FA, Bombard Y et al: Expectations and values about expanded newborn screening: a public engagement study. Health Expect 2014; 16: 183-187.
20. Mak CM, Lam CW, Law CY et al: Parental attitudes on expanded newborn screening in Hong Kong. Public Health 2012; 126: 954-959.
21. Etchegary H, Dicks E, Hodgkinson K, Pullman D, Green J, Parfey P: Public attitudes about genetic testing in the newborn period. J Obstet Gynecol Neonatal Nurs 2012; 41: 191-200.
22. Liebl B, Nennstiel-Ratzel U, von Kries R et al: Very high compliance in an expanded MS-MS-based newborn screening program despite written parental consent. Prev Med 2002; 34: 5.
23. Dhondt J-L: Implementation of informed consent for a cystic fibrosis newborn screening program in France: low refusal rates for optional testing. J Pediatr 2005; 147: S106-S108.
24. Census of Population, 2010. http://www12.statcan.gc.ca/census-recensement/2011/ rt-td/index-eng.cfm#tab5 (accessed 21 March 2013).
25. Bombard Y, Miller FA, Hayeems RZ et al: Citizens' values regarding research with stored samples from newborn screening in Canada. Pediatrics 2012; 129: 239-247.
26. Johri M, Damschroder LJ, Zikmund-Fisher BJ, Kim SY, Ubel PA: Can a moral reasoning exercise improve response quality to surveys of healthcare priorities? J Med Ethics 2009; 35: 57-64.
27. Willison DJ, Swinton M, Schwartz L et al: Alternatives to project-specific consent for access to personal information for health research: insights from a public dialogue. BMC Med Ethics 2008; 9: 18.
28. Schwartz LM, Woloshin S, Fowler Jr FJ, Welch HG: Enthusiasm for cancer screening in the United States. JAMA 2004; 291: 71-78.
29. Straten GF, Friele RD, Groenewegen PP: Public trust in Dutch health care. Soc Sci Med 2002; 55: 227-234.
30. Kim M, Blendon RJ, Benson JM: How interested are Americans in new medical technologies? A multicountry comparison. Health Aff (Millwood) 2001; 20: 194-201.
31. Gaskell G, Allansdottir A, Allum N et al: The 2010 Eurobarometer on the life sciences. Nat Biotechnol 2011; 29: 113-114.
32. Nunnally J: Psychometric Theory, 2nd edn. New York: McGraw-Hill, 1979.
33. Katz KA: The (relative) risks of using odds ratios. Arch Dermatol 2006; 142: 761-764.
34. Eysenbach G: Improving the quality of web surveys: the checklist for reporting results of internet e-surveys (CHERRIES). J Med Internet Res 2004; 6: e34.
35. Census of Population, 2006. http://www12.statcan.gc.ca/census-recensement/2011/ rt-td/index-eng.cfm#tab5 (accessed 21 March 2013).
36. Caulfield T, Condit C: Science and the sources of hype. Public Health Genomics 2012; 15: 209-217.
37. Goldenberg AJ, Dodson DS, Davis MM, Tarini BA: Parents' interest in whole-genome sequencing of newborns. Genet Med 2013; 16: 78-84.
38. Jorgensen KJ, Gotzsche PC: Overdiagnosis in publicly organised mammography screening programmes: systematic review of incidence trends. Br Med J 2009; 339: b2587.
39. Bach PB, Mirkin JN, Oliver TK et al: Benefits and harms of CT screening for lung cancer: a systematic review. JAMA 2012; 307: 2418-2429.
40. Perneger TV, Cullati S, Schiesari L, Charvet-Berard A: Impact of information about risks and benefits of cancer screening on intended participation. Eur J Cancer 2010; 46: 2267-2274.
41. Schlesinger M, Kanouse DE, Rybowski L, Martino SC, Shaller D: Consumer response to patient experience measures in complex information environments. Med Care 2012; 50: S56-S64.
42. Miller FA, Mentzakis E, Axler R et al: Do Canadian researchers and the lay public prioritize biomedical research outcomes equally? a choice experiment. Acad Med 2013; 88: 519-526.
43. Stewart RJ, Caird J, Oliver K, Oliver S: Patients' and clinicians' research priorities. Health Expect 2011; 14: 439-448.
44. Johnsson L, Helgesson G, Rafnar T et al: Hypothetical and factual willingness to participate in biobank research. Eur J Hum Genet 2010; 18: 1261-1264.
45. Sawyer SM, Cerritelli B, Carter LS, Cooke M, Glazner JA, Massie J: Changing their minds with time: a comparison of hypothetical and actual reproductive behaviors in parents of children with cystic fibrosis. Pediatrics 2006; 118: e649-e656.
46. Sanderson SC, O'Neill SC, Bastian L, Bepler G, McBride CM: What can interest tell us about uptake of genetic testing? Intention and behavior amongst smokers related to patients with lung cancer. Public Health Genomics 2009; 13: 116-124.