Journal of Genetic Counseling

, Volume 24, Issue 3, pp 452–463 | Cite as

Genetics Professionals’ Opinions of Whole-Genome Sequencing in the Newborn Period

  • Elizabeth Ulm
  • W. Gregory Feero
  • Richard Dineen
  • Joel Charrow
  • Catherine Wicklund
PROFESSIONAL ISSUES

Abstract

Newborn screening (NBS) programs have been successful in identifying infants with rare, treatable, congenital conditions. While current programs rely largely on biochemical analysis, some predict that in the future, genome sequencing may be used as an adjunct. The purpose of this exploratory pilot study was to begin to characterize genetics professionals’ opinions of the use of whole-genome sequencing (WGS) in NBS. We surveyed members of the American College of Medical Genetics and Genomics (ACMG) via an electronic survey distributed through email. The survey included questions about results disclosure, the current NBS paradigm, and the current criteria for adding a condition to the screening panel. The response rate was 7.3 % (n = 113/1549). The majority of respondents (85 %, n = 96/113) felt that WGS should not be currently used in NBS, and that if it were used, it should not be mandatory (86.5 %, n = 96/111). However, 75.7 % (n = 84/111) foresee it as a future use of WGS. Respondents felt that accurate interpretation of results (86.5 %, n = 83/96), a more extensive consent process (72.6 %, n = 69/95), pre- (79.2 %, n = 76/96) and post-test (91.6 %, n = 87/95) counseling, and comparable costs (70.8 %, n = 68/96) and turn-around-times (64.6 %, n = 62/96) to current NBS would be important for using WGS in NBS. Participants were in favor of disclosing most types of results at some point in the lifetime. However, the majority (87.3 %, n = 96/110) also indicated that parents should be able to choose what results are disclosed. Overall, respondents foresee NBS as a future use of WGS, but indicated that WGS should not occur within the framework of traditional NBS. They agreed with the current criteria for including a condition on the recommended uniform screening panel (RUSP). Further discussion about these criteria is needed in order to better understand how they could be utilized if WGS is incorporated into NBS.

Keywords

Whole-genome sequencing Newborn screening Public health 

Supplementary material

10897_2014_9779_MOESM1_ESM.docx (37 kb)
ESM 1(DOCX 37 kb)

References

  1. ACMG. (2013a). Incidental findings in clinical genomics: a clarification. Genetics in Medicine, 8, 664–666.Google Scholar
  2. ACMG. (2014). ACMG Updates Recommendation on “Opt Out” for Genome Sequencing Return of Results. Retrieved 1st July 2014, from https://www.acmg.net/docs/Release_ACMGUpdatesRecommendations_final.pdf
  3. Andermann, A., Blancquaert, I., Beauchamp, S., & Dery, V. (2008). Revisiting Wilson and Jungner in the genomic age: a review of screening criteria over the past 40 years. Bulletin of the World Health Organization, 4, 317–319.CrossRefGoogle Scholar
  4. ASCO. (2003). American society of clinical oncology policy statement update: genetic testing for cancer susceptibility. Journal of Clinical Oncology, 12, 2397–2406.Google Scholar
  5. ASHG/ACMG. (1995). Points to consider: ethical, legal, and psychosocial implications of genetic testing in children and adolescents. American society of human genetics board of directors, American college of medical genetics board of directors. American Journal of Human Genetics, 5, 1233–1241.Google Scholar
  6. Baars, M. J., Henneman, L., & Ten Kate, L. P. (2005). Deficiency of knowledge of genetics and genetic tests among general practitioners, gynecologists, and pediatricians: a global problem. Genetics in Medicine, 9, 605–610.CrossRefGoogle Scholar
  7. Berg, J. S., Khoury, M. J., & Evans, J. P. (2011). Deploying whole genome sequencing in clinical practice and public health: meeting the challenge one bin at a time. Genetics in Medicine, 6, 499–504.CrossRefGoogle Scholar
  8. Bernhardt, B. A., Zayac, C., Gordon, E. S., Wawak, L., Pyeritz, R. E., & Gollust, S. E. (2012). Incorporating direct-to-consumer genomic information into patient care: attitudes and experiences of primary care physicians. Personalized Medicine, 7, 683–692.CrossRefGoogle Scholar
  9. Bick, D., & Dimmock, D. (2011). Whole exome and whole genome sequencing. Current Opinion in Pediatrics, 6, 594–600.CrossRefGoogle Scholar
  10. Bombard, Y., Miller, F. A., Hayeems, R. Z., Wilson, B. J., Carroll, J. C., Paynter, M., et al. (2012). Health-care providers’ views on pursuing reproductive benefit through newborn screening: the case of sickle cell disorders. European Journal of Human Genetics, 5, 498–504.CrossRefGoogle Scholar
  11. Bombard, Y., Miller, F. A., Hayeems, R. Z., Barg, C., Cressman, C., Carroll, J. C., et al. (2014). Public views on participating in newborn screening using genome sequencing. European Journal of Human Genetics. doi:10.1038/ejhg.2014.22.PubMedGoogle Scholar
  12. Calonge, N., Green, N. S., Rinaldo, P., Lloyd-Puryear, M., Dougherty, D., Boyle, C., et al. (2010). Committee report: method for evaluating conditions nominated for population-based screening of newborns and children. Genetics in Medicine, 3, 153–159.CrossRefGoogle Scholar
  13. CDC. (2012). CDC grand rounds: newborn screening and improved outcomes. MMWR. Morbidity and Mortality Weekly Report, 21, 390–393.Google Scholar
  14. Chan, K., Davis, J., Pai, S. Y., Bonilla, F. A., Puck, J. M., & Apkon, M. (2011). A Markov model to analyze cost-effectiveness of screening for severe combined immunodeficiency (SCID). Molecular Genetics and Metabolism, 3, 383–389.CrossRefGoogle Scholar
  15. Clayton, E. W. (2010). Currents in contemporary ethics. State run newborn screening in the genomic era, or how to avoid drowning when drinking from a fire hose. The Journal of Law, Medicine & Ethics, 3, 697–700.CrossRefGoogle Scholar
  16. Cooksey, J. A., Forte, G., Benkendorf, J., & Blitzer, M. G. (2005). The state of the medical geneticist workforce: findings of the 2003 survey of American board of medical genetics certified geneticists. Genetics in Medicine, 6, 439–443.CrossRefGoogle Scholar
  17. Forman, J., Coyle, F., Levy-Fisch, J., Roberts, P., Terry, S., & Legge, M. (2013). Screening criteria: the need to deal with new developments and ethical issues in newborn metabolic screening. Journal of Community Genetics, 1, 59–67.CrossRefGoogle Scholar
  18. Goldenberg, A. J., & Sharp, R. R. (2012). The ethical hazards and programmatic challenges of genomic newborn screening. JAMA, 5, 461–462.CrossRefGoogle Scholar
  19. Goldenberg, A. J., Dodson, D. S., Davis, M. M., & Tarini, B. A. (2013). Parents’ interest in whole-genome sequencing of newborns. Genetics in Medicine, 16, 78–84.PubMedCentralCrossRefPubMedGoogle Scholar
  20. Green, R. C., Berg, J. S., Berry, G. T., Biesecker, L. G., Dimmock, D. P., Evans, J. P., et al. (2012). Exploring concordance and discordance for return of incidental findings from clinical sequencing. Genetics in Medicine, 14, 405–410.PubMedCentralCrossRefPubMedGoogle Scholar
  21. Green, R. C., Berg, J. S., Grody, W. W., Kalia, S. S., Korf, B. R., Martin, C. L., et al. (2013). ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genetics in Medicine, 7, 565–574.CrossRefGoogle Scholar
  22. HHS. (2009). “GINA” The Genetic Information Nondiscrimination Act of 2008: Information for Researchers and Health Care Professionals.Google Scholar
  23. Jamal, S. M., Yu, J. H., Chong, J. X., Dent, K. M., Conta, J. H., Tabor, H. K., et al. (2013). Practices and policies of clinical exome sequencing providers: analysis and implications. American Journal of Medical Genetics. Part A, 5, 935–950.CrossRefGoogle Scholar
  24. Knoppers, B. M., Senecal, K., Borry, P., & Avard, D. (2014). Whole-genome sequencing in newborn screening programs. Sci Transl Med, 229, 229 cm222.Google Scholar
  25. Landau, Y. E., Lichter-Konecki, U., & Levy, H. L. (2014). Genomics in newborn screening. The Journal of Pediatrics, 1, 14–19.CrossRefGoogle Scholar
  26. Levy, P. A. (2010). An overview of newborn screening. Journal of Developmental and Behavioral Pediatrics, 7, 622–631.CrossRefGoogle Scholar
  27. Levy, H. L. (2014). Newborn screening: the genomic challenge. Molecular Genetics & Genomic Medicine, 2, 81–84.CrossRefGoogle Scholar
  28. Mandl, K. D., Feit, S., Larson, C., & Kohane, I. S. (2002). Newborn screening program practices in the United States: notification, research, and consent. Pediatrics, 2, 269–273.CrossRefGoogle Scholar
  29. NIH. (2012). Genomic Sequencing and Newborn Screening Disorders Request for Applications: Department of Health and Human Services.Google Scholar
  30. NSGC. (1997). Position Statements: Genetic Testing of Minors for Adult-Onset Conditions.Google Scholar
  31. Sharp, R. R. (2011). Downsizing genomic medicine: approaching the ethical complexity of whole-genome sequencing by starting small. Genetics in Medicine, 3, 191–194.CrossRefGoogle Scholar
  32. Tarini, B. A., & Goldenberg, A. J. (2012). Ethical issues with newborn screening in the genomics Era. Annual Review of Genomics and Human Genetics, 13, 381–393.PubMedCentralCrossRefPubMedGoogle Scholar
  33. Wetterstrand, K.A. (2011). DNA Sequencing Costs: Data from the NHGRI Large-Scale Genome Sequencing Program Available at: www.genome.gov/sequencingcosts.
  34. Wilson, J. M. G., & Jungner, G. (1968). Principles and practice of screening for disease. France: World Health Organization.Google Scholar
  35. Zytkovicz, T. H., Fitzgerald, E. F., Marsden, D., Larson, C. A., Shih, V. E., Johnson, D. M., et al. (2001). Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England newborn screening program. Clinical Chemistry, 11, 1945–1955.Google Scholar

Copyright information

© National Society of Genetic Counselors, Inc. 2014

Authors and Affiliations

  • Elizabeth Ulm
    • 1
    • 5
  • W. Gregory Feero
    • 2
  • Richard Dineen
    • 3
  • Joel Charrow
    • 1
    • 4
  • Catherine Wicklund
    • 1
  1. 1.Center for Genetic MedicineNorthwestern UniversityChicagoUSA
  2. 2.Maine-Dartmouth Family Medicine ResidencyAugustaUSA
  3. 3.University of Illinois Medical CenterChicagoUSA
  4. 4.Ann & Robert H. Lurie Children’s Hospital of ChicagoChicagoUSA
  5. 5.Cincinnati Children’s Hospital Medical CenterCincinnatiUSA

Personalised recommendations