Photo of Richard Parad,  MD, MPH

Richard Parad, MD, MPH

Brigham And Women's Hospital

Brigham And Women's Hospital
Phone: (617) 732-7371
Fax: (617) 278-6983

Richard Parad, MD, MPH

Brigham And Women's Hospital


  • Associate Professor, Pediatrics, Harvard Medical School
  • Director of Newborn Genomic Medicine, Pediatric Newborn Medicine, Brigham And Women's Hospital


Research Abstract

Population-based newborn screening (NBS) is one of the most successful public health programs in modern medicine. Over 60 actionable conditions are currently included in NBS using biologic samples from newborn "heel stick" dried blood spots (DBS). At this time, genetically-based detection of increased risk for early onset childhood cancer risk, such as heritable retinoblastoma, is not included in NBS. With state public health laboratories increasingly using DNA-based tests in NBS algorithms, primary sequencing-based NBS for the early identification of newborns at high risk for developing infant or early childhood cancers may be feasible.

We developed a novel tNGS-based panel, designated “PERC-Seq” (Pediatric Early Risk for Cancer-Sequencing), which includes 11 cancer predisposition syndrome genes. Pathogenic variants in these selected genes are associated with increased risk of specific early-onset childhood cancers whose outcomes could potentially be improved with early detection. We developed a simulation model to assess the impact of using this panel (and each gene individually) in NBS. The Childhood Cancer Predisposition Simulation Model suggests that identification and surveillance of at-risk infants would reduce overall childhood cancer deaths by ~8%, as well as reduce the percentage of survivors living with high risk of treatment-related mortality. We worked with the Michigan Cancer Surveillance Program and the Michigan Biobank to identify DBS from children born in Michigan who went on to develop with a malignancy in which the histologic tumor type was associated with variants in PERC-Seq panel genes. We identified 1803 such potential samples. The PERC-Seq Panel will be applied to the samples to estimate prevalence of pathogenic or likely pathogenic variants for each histologic subtype, and these data will be entered into the simulation model.

Modeling the impact of public health interventions in childhood cancer detection and prevention can be helpful in evaluating new interventions. Linkage of DBS specimens to childhood cancer cases is feasible and provides a new source of biologic materials for studying cancer etiology and risk.

Publications from Harvard Catalyst Profiles

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  • Parad RB, Breeze JL, Terrin N, Rogers LK, Salafia CM, Greenough A, Davis JM. Differences in clinical and laboratory biomarkers for short and long-term respiratory outcomes in preterm neonates. Pediatr. Pulmonol. 2021. PubMed
  • Pereira S, Smith HS, Frankel LA, Christensen KD, Islam R, Robinson JO, Genetti CA, Blout Zawatsky CL, Zettler B, Parad RB, Waisbren SE, Beggs AH, Green RC, Holm IA, McGuire AL, . Psychosocial Effect of Newborn Genomic Sequencing on Families in the BabySeq Project: A Randomized Clinical Trial. JAMA Pediatr 2021. PubMed
  • Lazow SP, Tracy SA, Staffa SJ, Estroff JA, Parad RB, Castro-Aragon IM, Fujii AM, Zurakowski D, Chen C. Abdominal ultrasound findings contribute to a multivariable predictive risk score for surgical necrotizing enterocolitis: A pilot study. Am J Surg 2021. PubMed
  • Wojcik MH, Zhang T, Ceyhan-Birsoy O, Genetti CA, Lebo MS, Yu TW, Parad RB, Holm IA, Rehm HL, Beggs AH, Green RC, Agrawal PB, . Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project. Genet Med 2021. PubMed
  • Beam KS, Lee M, Hirst K, Beam A, Parad RB. Specificity of International Classification of Diseases codes for bronchopulmonary dysplasia: an investigation using electronic health record data and a large insurance database. 2021; 41:764-771. PubMed
  • Parad RB, Kaler SG, Mauceli E, Sokolsky T, Yi L, Bhattacharjee A. Targeted next generation sequencing for newborn screening of Menkes disease. Mol Genet Metab Rep 2020; 24:100625. PubMed
  • Smith LD, Bainbridge MN, Parad RB, Bhattacharjee A. Second Tier Molecular Genetic Testing in Newborn Screening for Pompe Disease: Landscape and Challenges. Int J Neonatal Screen 2020. PubMed
  • Mackay ZP, Dukhovny D, Phillips KA, Beggs AH, Green RC, Parad RB, Christensen KD, . Quantifying Downstream Healthcare Utilization in Studies of Genomic Testing. Value Health 2020; 23:559-565. PubMed
  • Gubbels CS, VanNoy GE, Madden JA, Copenheaver D, Yang S, Wojcik MH, Gold NB, Genetti CA, Stoler J, Parad RB, Roumiantsev S, Bodamer O, Beggs AH, Juusola J, Agrawal PB, Yu TW. Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield. Genet Med 2020; 22:736-744. PubMed
  • Tracy SA, Lazow SP, Castro-Aragon IM, Fujii AM, Estroff JA, Parad RB, Staffa SJ, Zurakowski D, Chen C. Is Abdominal Sonography a Useful Adjunct to Abdominal Radiography in Evaluating Neonates with Suspected Necrotizing Enterocolitis? J Am Coll Surg 2020; 230:903-911.e2. PubMed
  • Afacan O, Estroff JA, Yang E, Barnewolt CE, Connolly SA, Parad RB, Mulkern RV, Warfield SK, Gholipour A. Fetal Echoplanar Imaging: Promises and Challenges. Top Magn Reson Imaging 2019; 28:245-254. PubMed
  • Davis JM, Pilon AL, Shenberger J, Breeze JL, Terrin N, Mazela J, Gulczynska E, Lauterbach R, Parad R. The role of recombinant human CC10 in the prevention of chronic pulmonary insufficiency of prematurity. Pediatr Res 2019; 86:254-260. PubMed
  • Milko LV, Chen F, Chan K, Brower AM, Agrawal PB, Beggs AH, Berg JS, Brenner SE, Holm IA, Koenig BA, Parad RB, Powell CM, Kingsmore SF. FDA oversight of NSIGHT genomic research: the need for an integrated systems approach to regulation. NPJ Genom Med 2019; 4:32. PubMed
  • 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. Genet Med 2019; 21:622-630. PubMed
  • Langfelder-Schwind E, Raraigh KS, Parad RB. Practice variation of genetic counselor engagement in the cystic fibrosis newborn screen-positive diagnostic resolution process. J Genet Couns 2019; 28:1178-1188. PubMed
  • Ceyhan-Birsoy O, Murry JB, Machini K, Lebo MS, Yu TW, Fayer S, Genetti CA, Schwartz TS, Agrawal PB, Parad RB, Holm IA, McGuire AL, Green RC, Rehm HL, Beggs AH, . Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project. Am J Hum Genet 2019; 104:76-93. PubMed
  • 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 Pediatr 2018; 18:225. PubMed
  • Sontag MK, Sarkar D, Comeau AM, Hassell K, Botto LD, Parad R, Rose SR, Wintergerst KA, Smith-Whitley K, Singh S, Yusuf C, Ojodu J, Copeland S, Hinton CF. Case Definitions for Conditions Identified by Newborn Screening Public Health Surveillance. Int J Neonatal Screen 2018; 4:16. PubMed
  • Murry JB, Machini K, Ceyhan-Birsoy O, Kritzer A, Krier JB, Lebo MS, Fayer S, Genetti CA, VanNoy GE, Yu TW, Agrawal PB, Parad RB, Holm IA, McGuire AL, Green RC, Beggs AH, Rehm HL, . Reconciling newborn screening and a novel splice variant in associated with partial biotinidase deficiency: a BabySeq Project case report. Cold Spring Harb Mol Case Stud 2018. PubMed
  • Parad RB. Non-sedation of the neonate for radiologic procedures. Pediatr Radiol 2018; 48:524-530. PubMed
  • Parad RB, Winston AB, Kalish LA, Gupta M, Thompson I, Sheldon Y, Morey J, Van Marter LJ. Role of Genetic Susceptibility in the Development of Bronchopulmonary Dysplasia. J Pediatr 2018; 203:234-241.e2. PubMed
  • 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. PubMed
  • Farrell PM, White TB, Howenstine MS, Munck A, Parad RB, Rosenfeld M, Sommerburg O, Accurso FJ, Davies JC, Rock MJ, Sanders DB, Wilschanski M, Sermet-Gaudelus I, Blau H, Gartner S, McColley SA. Diagnosis of Cystic Fibrosis in Screened Populations. J Pediatr 2017; 181S:S33-S44.e2. PubMed
  • Ceyhan-Birsoy O, Machini K, Lebo MS, Yu TW, Agrawal PB, Parad RB, Holm IA, McGuire A, Green RC, Beggs AH, Rehm HL. A curated gene list for reporting results of newborn genomic sequencing. Genet Med 2017; 19:809-818. PubMed
  • Salinas DB, Azen C, Young S, Keens TG, Kharrazi M, Parad RB. Phenotypes of California CF Newborn Screen-Positive Children with CFTR 5T Allele by TG Repeat Length. Genet Test Mol Biomarkers 2016; 20:496-503. PubMed
  • Afacan O, Gholipour A, Mulkern RV, Barnewolt CE, Estroff JA, Connolly SA, Parad RB, Bairdain S, Warfield SK. Fetal lung apparent diffusion coefficient measurement using diffusion-weighted MRI at 3 Tesla: Correlation with gestational age. J Magn Reson Imaging 2016. PubMed
  • Munck A, Mayell SJ, Winters V, Shawcross A, Derichs N, Parad R, Barben J, Southern KW, . Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID): A new designation and management recommendations for infants with an inconclusive diagnosis following newborn screening. 2015; 14:706-13. PubMed
  • Bhattacharjee A, Sokolsky T, Wyman SK, Reese MG, Puffenberger E, Strauss K, Morton H, Parad RB, Naylor EW. Development of DNA confirmatory and high-risk diagnostic testing for newborns using targeted next-generation DNA sequencing. Genet Med 2015; 17:337-47. PubMed
  • Ren CL, Parad R, Borowitz D. Indeterminate cystic fibrosis newborn screening results. Pediatr. Pulmonol. 2015; 50:209-10. PubMed
  • Parad RB, Davis JM, Lo J, Thomas M, Marlow N, Calvert S, Peacock JL, Greenough A. Prediction of respiratory outcome in extremely low gestational age infants. 2015; 107:241-8. PubMed
  • Lakshmanan A, Leeman KT, Brodsky D, Parad R. Evaluation of a web-based portal to improve resident education by neonatology fellows. Med Educ Online 2014; 19:24403. PubMed
  • Levesque BM, Kalish LA, Winston AB, Parad RB, Hernandez-Diaz S, Phillips M, Zolit A, Morey J, Gupta M, Mammoto A, Ingber DE, Van Marter LJ. Low urine vascular endothelial growth factor levels are associated with mechanical ventilation, bronchopulmonary dysplasia and retinopathy of prematurity. 2013; 104:56-64. PubMed
  • Glotzbecker MP, Estroff JA, Curtis TA, Kalish LA, Spencer SA, Parad RB, Kasser JR, Mahan ST. Prospective evaluation of a prenatal sonographic clubfoot classification system. 2013; 34:236-40. PubMed
  • Nathe KE, Mancuso CJ, Parad R, Van Marter LJ, Martin CR, Stoler-Barak L, Philbin VJ, Phillips MF, Palmer CD, Levy O. Innate immune activation in neonatal tracheal aspirates suggests endotoxin-driven inflammation. Pediatr Res 2012; 72:203-11. PubMed
  • Keiles S, Koepke R, Parad R, Kharrazi M, . Impact of IVS8-(TG)m(T)n on IRT and sweat chloride levels in newborns identified by California CF newborn screening. 2012; 11:257-60. PubMed
  • Parad RB, Allred EN, Rosenfeld WN, Davis JM. Reduction of retinopathy of prematurity in extremely low gestational age newborns treated with recombinant human Cu/Zn superoxide dismutase. 2012; 102:139-44. PubMed
  • Parad RB. Update on the diagnosis and management of bronchopulmonary dysplasia/chronic lung disease of infancy: what the radiologist should know. Pediatr Radiol 2012; 42 Suppl 1:S92-100. PubMed
  • Nguyen RH, Umbach DM, Parad RB, Stroehla B, Rogan WJ, Estroff JA. US assessment of estrogen-responsive organ growth among healthy term infants: piloting methods for assessing estrogenic activity. Pediatr Radiol 2011; 41:633-42. PubMed
  • Labrecque M, Parad R, Gupta M, Hansen A. Donation after cardiac death: the potential contribution of an infant organ donor population. J Pediatr 2011; 158:31-6. PubMed
  • Hale JE, Parad RB, Dorkin HL, Gerstle R, Lapey A, O'Sullivan BP, Spencer T, Yee W, Comeau AM. Cystic fibrosis newborn screening: using experience to optimize the screening algorithm. 2010; 33:S255-61. PubMed
  • Glotzbecker MP, Estroff JA, Spencer SA, Bosley JC, Parad RB, Kasser JR, Mahan ST. Prenatally diagnosed clubfeet: comparing ultrasonographic severity with objective clinical outcomes. J Pediatr Orthop 2010; 30:606-11. PubMed
  • Parad RB. HFOV in preterms: an individual patients' data meta-analysis. Lancet 2010; 375:2054-5. PubMed
  • , Borowitz D, Parad RB, Sharp JK, Sabadosa KA, Robinson KA, Rock MJ, Farrell PM, Sontag MK, Rosenfeld M, Davis SD, Marshall BC, Accurso FJ. Cystic Fibrosis Foundation practice guidelines for the management of infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome during the first two years of life and beyond. J Pediatr 2009; 155:S106-16. PubMed
  • , Borowitz D, Robinson KA, Rosenfeld M, Davis SD, Sabadosa KA, Spear SL, Michel SH, Parad RB, White TB, Farrell PM, Marshall BC, Accurso FJ. Cystic Fibrosis Foundation evidence-based guidelines for management of infants with cystic fibrosis. J Pediatr 2009; 155:S73-93. PubMed
  • Nathe KE, Parad R, Van Marter LJ, Lund CA, Suter EE, Hernandez-diaz S, Boush EB, Ikonomu E, Gallington L, Morey JA, Zeman AM, Mcnamara M, Levy O. Endotoxin-directed innate immunity in tracheal aspirates of mechanically ventilated human neonates. Pediatr Res 2009; 66:191-6. PubMed
  • McBride JA, Parad RB, Davis JM, Zheng Z, Zupancic JA, . Economic evaluation of recombinant human copper zinc superoxide dismutase administered at birth to premature infants. 2009; 29:364-71. PubMed
  • Carlson D, McKeen E, Mitchell M, Torres B, Parad R, Comeau AM, O'Sullivan BP. Oropharyngeal flora in healthy infants: observations and implications for cystic fibrosis care. Pediatr. Pulmonol. 2009; 44:497-502. PubMed
  • Farrell PM, Rosenstein BJ, White TB, Accurso FJ, Castellani C, Cutting GR, Durie PR, Legrys VA, Massie J, Parad RB, Rock MJ, Campbell PW, . Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report. J Pediatr 2008; 153:S4-S14. PubMed
  • Hale JE, Parad RB, Comeau AM. Newborn screening showing decreasing incidence of cystic fibrosis. N Engl J Med 2008; 358:973-4. PubMed
  • Comeau AM, Accurso FJ, White TB, Campbell PW, Hoffman G, Parad RB, Wilfond BS, Rosenfeld M, Sontag MK, Massie J, Farrell PM, O'Sullivan BP, . Guidelines for implementation of cystic fibrosis newborn screening programs: Cystic Fibrosis Foundation workshop report. Pediatrics 2007; 119:e495-518. PubMed
  • O'Sullivan BP, Zwerdling RG, Dorkin HL, Comeau AM, Parad R. Early pulmonary manifestation of cystic fibrosis in children with the DeltaF508/R117H-7T genotype. Pediatrics 2006; 118:1260-5. PubMed
  • Comeau AM, Parad R, Gerstle R, O'Sullivan BP, Dorkin HL, Dovey M, Haver K, Martin T, Eaton RB. Communications systems and their models: Massachusetts parent compliance with recommended specialty care after positive cystic fibrosis newborn screening result. J Pediatr 2005; 147:S98-100. PubMed
  • Parad RB, Comeau AM. Diagnostic dilemmas resulting from the immunoreactive trypsinogen/DNA cystic fibrosis newborn screening algorithm. J Pediatr 2005; 147:S78-82. PubMed
  • Parad RB, Comeau AM, Dorkin HL, Dovey M, Gerstle R, Martin T, O'Sullivan BP. Sweat testing infants detected by cystic fibrosis newborn screening. J Pediatr 2005; 147:S69-72. PubMed
  • Comeau AM, Parad R, Gerstle R, O'Sullivan BP, Dorkin HL, Dovey M, Haver K, Martin T, Eaton RB. Challenges in implementing a successful newborn cystic fibrosis screening program. J Pediatr 2005; 147:S89-93. PubMed
  • Wilfond BS, Parad RB, Fost N. Balancing benefits and risks for cystic fibrosis newborn screening: implications for policy decisions. J Pediatr 2005; 147:S109-13. PubMed
  • Comeau AM, Parad RB, Dorkin HL, Dovey M, Gerstle R, Haver K, Lapey A, O'Sullivan BP, Waltz DA, Zwerdling RG, Eaton RB. Population-based newborn screening for genetic disorders when multiple mutation DNA testing is incorporated: a cystic fibrosis newborn screening model demonstrating increased sensitivity but more carrier detections. Pediatrics 2004; 113:1573-81. PubMed
  • Als H, Gilkerson L, Duffy FH, McAnulty GB, Buehler DM, Vandenberg K, Sweet N, Sell E, Parad RB, Ringer SA, Butler SC, Blickman JG, Jones KJ. A three-center, randomized, controlled trial of individualized developmental care for very low birth weight preterm infants: medical, neurodevelopmental, parenting, and caregiving effects. J Dev Behav Pediatr 2003; 24:399-408. PubMed
  • Parad RB, Comeau AM. Newborn screening for cystic fibrosis. Pediatr Ann 2003; 32:528-35. PubMed
  • Davis JM, Parad RB, Michele T, Allred E, Price A, Rosenfeld W, . Pulmonary outcome at 1 year corrected age in premature infants treated at birth with recombinant human CuZn superoxide dismutase. Pediatrics 2003; 111:469-76. PubMed
  • Cullen A, Van Marter LJ, Allred EN, Moore M, Parad RB, Sunday ME. Urine bombesin-like peptide elevation precedes clinical evidence of bronchopulmonary dysplasia. Am J Respir Crit Care Med 2002; 165:1093-7. PubMed
  • Parad RB, Kramer J, Strunk RC, Rosen FS, Davis AE. Dysfunctional C1 inhibitor Ta: deletion of Lys-251 results in acquisition of an N-glycosylation site. Proc Natl Acad Sci U S A 1990; 87:6786-90. PubMed
  • Ariga T, Igarashi T, Ramesh N, Parad R, Cicardi M, Davis AE. Type I C1 inhibitor deficiency with a small messenger RNA resulting from deletion of one exon. J Clin Invest 1989; 83:1888-93. PubMed