BabySeq: Genome Sequence-Based Screening for Childhood Risk and Newborn Illness
Robert Green, M.D., M.P.H., Overall Co-Principal Investigator
Alan Beggs, Ph.D., Overall Co-Principal Investigator
Heidi Rehm, Ph.D., Project 1 Co-Principal Investigator
Peter Park, Ph.D., Project 1 Co-Principal Investigator
Richard Parad, M.D., M.P.H., Project 2 Co-Principal Investigator
Pankaj Agrawal, M.D., M.B., Project 2 Co-Principal Investigator
Amy McGuire, J.D., Ph.D., Project 3 Co-Principal Investigator
Ingrid Holm, M.D., Ph.D., Project 3 Co-Principal Investigator
Center Project Personnel
Ceyhan-Birsoy, O., Murry, J.B., Machini, K., Lebo, M.S., Timothy, W.Y., Fayer, S., Genetti, C.A., Schwartz, T.S., Agrawal, P.B., Parad, R.B. and Holm, I.A., 2019. Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project. The American Journal of Human Genetics, 104(1), pp.76-93.
Pereira S, Robinson JO, Gutierrez AM, Petersen D, Hsu RL, Lee CH, Schwartz TS, Holm IA, Beggs AH, Green RC, McGuire AL, for The BabySeq Project Group. Perceived Benefits, Risks, and Utility of Newborn Genomic Sequencing in the BabySeq Project. Pediatrics. 2019; 143(s1): S6-S13. https://doi.org/10.1542/peds.2018-1099C
Holm IA, McGuire AL, Pereira S, Rehm H, Green RC, Beggs AH, for the BabySeq Project Group. Returning a genomic result for an adult-onset condition to the parents of a newborn: Insights from the BabySeq Project. Pediatrics. 2019; 143(s1): S37-S43. https://doi.org/10.1542/peds.2018-1099H
VanNoy, G.E., Genetti, C.A., McGuire, A.L., Green, R.C., Beggs, A.H., Holm, I.A. and Group, T.B.P., 2019. Challenging the Current Recommendations for Carrier Testing in Children. Pediatrics, 143(Suppl 1), p.S27.
Genetti CA, Schwartz TS, Robinson JO, VanNoy GE, Petersen D, Pereira S, Fayer S, Peoples HA, Agrawal PB, Betting WN, Holm IA, McGuire AL, Waisbren SE, Yu TW, Green RC, Beggs AH, Parad RB. Parental Interest in Genomic Sequencing of Newborns: Enrollment Experience from the BabySeq Project. Genetics in Medicine. 2018; 21(30: 622-630. https://doi.org/10.1038/s41436-018-0105-6
Holm IA, Agrawal PB, Ceyhan-Birsoy O, Christensen KD, Fayer S, Frankel LA, Genetti CA, Krier JB, LaMay RC, Levy HL, McGuire AL, Parad RB, Park PJ, Pereira S, Rehm HL, Schwartz TS, Waisbren SE, Yu TW, Green RC, Beggs AH. The BabySeq Project: Implementing Genomic Sequencing in Newborns. BMC Pediatrics. 2018; 18(225). https://doi.org/10.1186/s12887-018-1200-1
Murry, J.B., Machini, K., Ceyhan-Birsoy, O., Kritzer, A., Krier, J.B., Lebo, M.S., Fayer, S., Genetti, C.A., VanNoy, G.E., Timothy, W.Y. and Agrawal, P.B., 2018. Reconciling newborn screening and a novel splice variant in BTD associated with partial biotinidase deficiency: a BabySeq Project case report. Molecular Case Studies, 4(4), p.a002873.
Berg JS, Agrawal PB, Bailey DB, Beggs AH, Brenner SE, Brower AM, Cakici JA, Ceyhan-Birsoy O, Chan K, Chen F, Currier RJ, Dukhovny D, Green RC, Harris-Wai J, Holm IA, Iglesias B, Joseph G, Kingsmore SF, Koenig BA, Kwok PY, Lantos J, Leeder SJ, Lewis MA, McGuire AL, Milko LV, Mooney SD, Parad RB, Pereira S, Petrikin J, Powell BC, Powell CM, Puck JM, Rehm HL, Risch N, Roche M, Shieh JT, Veeraraghavan N, Watson MS, Willig L, Yu TW, Urv T, Wise AL. Newborn Sequencing in Genomic Medicine and Public Health. Pediatrics. 2017;139(2): e20162252. https://doi.org/10.1542/peds.2016-2252
Ceyhan-Birsoy, O., Machini, K., Lebo, M.S., Tim, W.Y., Agrawal, P.B., Parad, R.B., Holm, I.A., McGuire, A., Green, R.C., Beggs, A.H. and Rehm, H.L., 2017. A curated gene list for reporting results of newborn genomic sequencing. Genetics in Medicine, 19(7), p.809.
Frankel LA, Pereira S, McGuire AL. Potential Psychosocial Risks of Sequencing Newborns. Pediatrics, 137, 2016: 24-9.
Waisbren, S.E., Bäck, D.K., Liu, C., Kalia, S.S., Ringer, S.A., Holm, I.A. and Green, R.C., 2015. In the Early Postpartum Period, Parents are Interested in Newborn Genomic Testing. Genetics in medicine: official journal of the American College of Medical Genetics, 17(6), p.501.
Blout CL, Christensen KD, Smith HS, Pereira S, Robinson JO, Genetti CA, Fayer S, Betting WN, Schwartz TS, Holm, IA, Beggs, AH, McGuire, AL, Green, RC. Physician Perceived Utility and Preparedness for Newborn Genomic Sequencing: Findings from the BabySeq Project. American College of Medical Genetics Annual Meeting. April 2019, Seattle, WA. Oral presentation.
Christensen KD, Dukhovny D, Agrawal P, Genetti CA, Holm IA, Mackay Z, McGuire AL, Pereira S, Schwartz TS, Yu T, Beggs AH, Green RC, Parad R. Screening Newborns with Genomic Sequencing Increases Short-Term Downstream Health Care Costs: Preliminary Findings from the BabySeq Project. American College of Medical Genetics Annual Meeting. April 2019, Seattle, WA. Poster presentation.
Pereira S, Petersen D, Robinson JO, Frankel L, Christensen KD, Waisbren SE, Holm IA, Beggs AH, Green RC, McGuire AL. The impact of newborn genomic sequencing on families: Findings from the BabySeq Project. American Society of Human Genetics Annual Meeting. October 2018, San Diego, CA. Oral presentation.
Holm, IA, Genetti, CA, Pereira, S, Green, RC, Beggs, AH, McGuire, AL. BRCA2, ELSI, and the Return of Genomic Results in the BabySeq Project. 4th ELSI Congress, June 2017. Poster presentation.
HA Peoples, AM Gutierrez, S Pereira, JO Robinson, L Frankel, MC Towne, M Helm, CA Genetti, IA Holm, AH Beggs, RC Green, AL McGuire. Benefits, Risks, and Perceived Utility of Newborn Genomic Sequencing: Comparing Clinicians' and Physicians' Baseline Attitudes in the BabySeq Project. American Society of Human Genetics Annual Meeting. Vancouver, Canada. October 2016. Poster presentation.
Pereira S, Frankel L, Robinson JO, Weipert CM, Towne MC, Gutierrez A, Lee K, Holm IA, Dukhovny D, Beggs AH, Green RC, McGuire AL. Genomic Sequencing of Newborns: Exploring Psychosocial Risks to Families. American Society of Human Genetics Annual Meeting. Baltimore, MD. October 2015. Poster presentation.