Genetics Professionals’ Opinions of Whole-Genome Sequencing in the Newborn Period
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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.
KeywordsWhole-genome sequencing Newborn screening Public health
This project was supported by a grant from the National Society of Genetic Counselors Public Health Special Interest Group.
Conflict of Interest
The authors declare that they have no conflicts of interest.
- ACMG. (2013a). Incidental findings in clinical genomics: a clarification. Genetics in Medicine, 8, 664–666.Google Scholar
- ACMG. (2013b). Mission Statement. Retrieved 19 November 2013, from https://www.acmg.net/ACMG/About_ACMG/Mission_Statement/ACMG/About_ACMG/Mission_Statement.aspx?hkey=473005e6-49fb-4604-84fc-31db71a6a368
- 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
- ASCO. (2003). American society of clinical oncology policy statement update: genetic testing for cancer susceptibility. Journal of Clinical Oncology, 12, 2397–2406.Google Scholar
- 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
- CDC. (2012). CDC grand rounds: newborn screening and improved outcomes. MMWR. Morbidity and Mortality Weekly Report, 21, 390–393.Google Scholar
- HHS. (2009). “GINA” The Genetic Information Nondiscrimination Act of 2008: Information for Researchers and Health Care Professionals.Google Scholar
- 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
- NIH. (2012). Genomic Sequencing and Newborn Screening Disorders Request for Applications: Department of Health and Human Services.Google Scholar
- NSGC. (1997). Position Statements: Genetic Testing of Minors for Adult-Onset Conditions.Google Scholar
- Wetterstrand, K.A. (2011). DNA Sequencing Costs: Data from the NHGRI Large-Scale Genome Sequencing Program Available at: www.genome.gov/sequencingcosts.
- Wilson, J. M. G., & Jungner, G. (1968). Principles and practice of screening for disease. France: World Health Organization.Google Scholar
- 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