Back to resultsGenomic Sequencing for Childhood Risk and Newborn Illness
Primary Purpose
Hereditary Disease, Genetic Predisposition to Disease
Status
Unknown status
Phase
Not Applicable
Locations
United States
Study Type
Interventional
Intervention
Genomic sequencing
Family history report
Sponsored by
About this trial
This is an interventional other trial for Hereditary Disease focused on measuring Genome Sequencing, Exome Sequencing, Newborn Screening, Childhood Onset Genetic Conditions
Eligibility Criteria
Newborns and Parents at Brigham and Women's Hospital (BWH) Well Newborn Nursery:
Inclusion Criteria :
- Infants born at BWH and admitted to the Well Newborn Nursery
- At least one biological parent is physically available to have genetic counseling, donate DNA, and provide consent for testing the infant. If the second biological parent is known but not physically present, the second biological parent must be available to have genetic counseling by phone, return a signed consent form by mail, and donate DNA via a mailed saliva kit. If there is a "rearing parent" (an individual who is not biologically related to the infant, but who is dedicated to raising the child), that individual must also provide consent but will not be asked to submit a saliva sample.
- Mother (either rearing or biological) carried the pregnancy
Exclusion Criteria:
- Parents are non-English speaking
- Parents are unwilling to have genomic reports placed in the medical record or sent to their primary care pediatrician
- Mother or father younger than 18 years of age
- Mother or father with impaired decisional capacity
- Age of infant is older than 30 days
- One of a multiple gestation
- Any infant in which clinical considerations preclude drawing 1.0 ml of blood
- Missing consent of either biological parent (if known) or rearing parent (if applicable)
Sick Newborns and Parents at Boston Children's Hospital (BCH) or the BWH NICU:
Inclusion Criteria:
- Infants admitted to BCH or the BWH NICU
- At least one biological parent is physically available to have genetic counseling, donate DNA, and provide consent for testing the infant. If the second biological parent is known but not physically present, the second biological parent must be available to have genetic counseling by phone, return a signed consent form by mail, and donate DNA via a mailed saliva kit. If there is a "rearing parent" (an individual who is not biologically related to the infant, but who is dedicated to raising the child), that individual must also provide consent but will not be asked to submit a saliva sample.
- Mother (either biological or rearing) carried the pregnancy
Exclusion Criteria:
- Parents are non-English speaking
- Parents are unwilling to have genomic reports placed in the medical record or sent to their primary care pediatrician
- Mother or father younger than 18 years of age
- Mother or father with impaired decisional capacity
- Age of infant is older than 30 days
- One of a multiple gestation
- Any infant in which clinical considerations preclude drawing 1.0 ml of blood
- Hospital admission expected to be less than 72 hours
- Missing consent of either biological parent (if known) or rearing parent (if applicable)
- Previously performed exome/genome sequencing on patient
Sites / Locations
- Boston Children's Hospital
- Brigham and Women's Hospital
Arms of the Study
Arm 1
Arm 2
Arm 3
Arm 4
Arm Type
Active Comparator
Experimental
Active Comparator
Experimental
Arm Label
Well Baby Family History Only
Well Baby Family History + Exome Sequencing
ICU Baby Family History Only
ICU Baby Family History + Exome Sequencing
Arm Description
Parents of newborns in well-baby units receive an Annotated Family History Report only. Active Comparator: Standard of Care Only: Family History report only
Parents of newborns in well-baby units receive a Genome Report and an Annotated Family History Report. Main Study Experimental: Genome Report and Family History report
Parents of newborns in intensive care units receive an Annotated Family History Report only. Active Comparator: Standard of Care Only: Family History report only
Parents of newborns in intensive care units receive a Genome Report and an Annotated Family History Report. Main Study Experimental: Genome Report and Family History report
Outcomes
Primary Outcome Measures
Downstream Health Care Costs Attributable to BabySeq Project Disclosure: Days of Inpatient Care
Days spent in inpatient care from disclosure of randomization status / genomic sequencing results through 10 months post-disclosure. Services were identified through a combination of chart note review, medical record review and participant surveys.
Parents' Distress
Parents' Distress was assessed using validated scales measuring Anxiety and Depression, and a novel item assessing Blame with responses ranging from 1 to 5. Higher scores indicate more distress. Anxiety per the Edinburgh Postnatal Depression Scale anxiety subscale (baseline, post-disclosure, and 3 months; scores ranging from 0 to 9); Anxiety per the Generalized Anxiety Disorder Scale-7 (3 months and 10 months; scores ranging from 0 to 21); Depression per the Edinburgh Postnatal Depression Scale (baseline, post-disclosure, and 3 months; scores ranging from 0 to 30); Depression per the Patient Health Questionnaire-9 (3 months and 10 months; scores ranging from 0 to 30); Self-blame per a novel item (3 months and 10 months)
Parent-Child Relationship
Parent-Child Relationship was assessed using validated scales measuring parents' perceptions of parenting stress (General parenting stress per the Parenting Stress Index™, 4th Edition Short Form (10 months); scores range from 36 to 180), how vulnerable they perceive their child to be (Parents' perception of baby's vulnerability per the Vulnerable Baby Scale (baseline, postdisclosure, 3 months, 10 months); scores range from 4 to 20), and how they are bonding with their child (Parent-child bonding per the Mother-to-Infant Bonding Scale (baseline, postdisclosure, 3 months, 10 months); scores range from 0 to 24). Lower bonding scores indicate more problems with bonding. For other measures, higher scores indicate higher stress and perceptions of vulnerability.
Parents' Relationship
Parents' Relationship was assessed using validated and novel measures of marital satisfaction using the Relationship satisfaction per the Kansas Marital Satisfaction Scale (3 months; scores ranging from 3 to 15), relationship conflict per a novel item (all time points; scores ranging from 1 to 5), and partner blame per a novel item (3 months and 10 months; scores ranging from 1 to 5). Higher scores on Satisfaction indicates more Satisfaction. Higher scores on Conflict and Blame indicate higher conflict and blame.
Downstream Health Care Utilization Attributable to BabySeq Project Disclosure: Number of Health Care Provider Visits
Per-patient counts for number of health care provider visits. Services were identified through a combination of chart note review, medical record review and participant surveys.
Downstream Health Care Utilization Attributable to BabySeq Project Disclosure: Number of Current Medications at 10 Months
Per-patient counts for number of current medications at 10 months. Services were identified through a combination of chart note review, medical record review and participant surveys.
Downstream Health Care Utilization Attributable to BabySeq Project Disclosure: Number of ER Visits
Per-patient counts number of ER visits. Services were identified through a combination of chart note review, medical record review and participant surveys.
Downstream Health Care Utilization Attributable to BabySeq Project Disclosure: Number of Outpatient Lab Tests
Per-patient counts for number of outpatient lab tests after results disclosure. Services were identified through a combination of chart note review, medical record review and participant surveys.
Downstream Health Care Utilization Attributable to BabySeq Project Disclosure
Per-patient means (SDs) for healthcare costs (in U.S. dollars) after disclosure of randomization status / genomic results from the BabySeq project. Services were identified through a combination of chart note review, medical record review and participant surveys.
Secondary Outcome Measures
Change in Perceived Utility Toward Genomic Sequencing
A novel survey item asked participants to rate the usefulness of whole genome sequencing results for managing health on a 1-10 scale at baseline and 3 months post-disclosure. Responses were on a 10-point scale anchored by "not at all useful" (1) to "extremely useful" (10).
Full Information
NCT ID
NCT02422511
First Posted
April 10, 2015
Last Updated
August 5, 2021
Sponsor
Brigham and Women's Hospital
Collaborators
Boston Children's Hospital, Baylor College of Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Human Genome Research Institute (NHGRI), Massachusetts General Hospital
1. Study Identification
Unique Protocol Identification Number
NCT02422511
Brief Title
Genomic Sequencing for Childhood Risk and Newborn Illness
Official Title
Genomic Sequencing for Childhood Risk and Newborn Illness (The BabySeq Project)
Study Type
Interventional
2. Study Status
Record Verification Date
August 2021
Overall Recruitment Status
Unknown status
Study Start Date
May 2015 (undefined)
Primary Completion Date
April 2020 (Actual)
Study Completion Date
April 2022 (Anticipated)
3. Sponsor/Collaborators
Responsible Party, by Official Title
Principal Investigator
Name of the Sponsor
Brigham and Women's Hospital
Collaborators
Boston Children's Hospital, Baylor College of Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Human Genome Research Institute (NHGRI), Massachusetts General Hospital
4. Oversight
Data Monitoring Committee
Yes
5. Study Description
Brief Summary
The Genomic Sequencing for Childhood Risk and Newborn Illness (the BabySeq Project) is a research study exploring the use of genomic sequencing in newborns. The National Institutes of Health is funding this study.
The investigators will enroll 240 healthy infants and their parents from the Brigham and Women's Hospital (BWH) Well Newborn Nursery and 240 sick infants and their parents at Boston Children's Hospital (BCH) or the BWH Neonatal Intensive Care Unit (NICU). A small blood sample will be collected from each infant and genome sequencing may be performed. Six weeks later, results are returned and explained. Over 12 months the investigators are studying the experiences of parents and pediatricians of infants who receive sequencing to help understand how best to use genomics in pediatric care.
Detailed Description
The objective of this research protocol is to conduct a randomized clinical trial to assess the benefits and risks of adding the information from a genomic sequencing report to physician-mediated medical care of newborns during their pediatric years.
The investigators will enroll 240 healthy infants and their parents from the Brigham and Women's Hospital (BWH) Well Newborn Nursery and 240 sick infants and their parents at Boston Children's Hospital (BCH) or the BWH Neonatal Intensive Care Unit (NICU).
A small blood sample will be obtained from each enrolled infant. Samples will be collected from all infants enrolled, regardless of the arm to which they are assigned, in order to follow the same protocol for all subjects prior to randomization.
Infants within each cohort will be randomized (1:1) to either standard-of-care (family history and standard newborn screening report) or to standard-of-care plus genomic sequencing.
A study physician and genetic counselor will disclose the infant's randomization assignment and study results during an in-person consultation with each family. The study physician and genetic counselor will provide the consultation to families utilizing all available medical information. In the sequencing arm of the study, this will include the medical history, physical exam, family history, standard newborn screening (NBS) report and sequencing report(s). In the non-sequencing arm of the study, this will include the medical history, physical exam, family history and standard NBS report.
Parents will be surveyed at four points over the 12 months after enrollment: baseline, immediately post-disclosure (approximately 6 weeks after enrollment), 3 months post-disclosure, and at 10 months post-disclosure.
6. Conditions and Keywords
Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Hereditary Disease, Genetic Predisposition to Disease
Keywords
Genome Sequencing, Exome Sequencing, Newborn Screening, Childhood Onset Genetic Conditions
7. Study Design
Primary Purpose
Other
Study Phase
Not Applicable
Interventional Study Model
Parallel Assignment
Masking
Participant
Masking Description
Families are masked to randomization until disclosure sessions
Allocation
Randomized
Enrollment
1205 (Actual)
8. Arms, Groups, and Interventions
Arm Title
Well Baby Family History Only
Arm Type
Active Comparator
Arm Description
Parents of newborns in well-baby units receive an Annotated Family History Report only. Active Comparator: Standard of Care Only: Family History report only
Arm Title
Well Baby Family History + Exome Sequencing
Arm Type
Experimental
Arm Description
Parents of newborns in well-baby units receive a Genome Report and an Annotated Family History Report. Main Study Experimental: Genome Report and Family History report
Arm Title
ICU Baby Family History Only
Arm Type
Active Comparator
Arm Description
Parents of newborns in intensive care units receive an Annotated Family History Report only. Active Comparator: Standard of Care Only: Family History report only
Arm Title
ICU Baby Family History + Exome Sequencing
Arm Type
Experimental
Arm Description
Parents of newborns in intensive care units receive a Genome Report and an Annotated Family History Report. Main Study Experimental: Genome Report and Family History report
Intervention Type
Genetic
Intervention Name(s)
Genomic sequencing
Intervention Description
Both sick and healthy infants randomized to receive genomic sequencing will receive a 'Genomic Newborn Sequencing Report' (GNSR) which will include pathogenic or likely pathogenic variants identified in genes associated with childhood-onset disease.
Intervention Type
Other
Intervention Name(s)
Family history report
Intervention Description
Participants from all arms of the study will have a family history taken by a study genetic counselor. Information collected through the family history will be summarized in a family history report that will be reviewed with all participants.
Primary Outcome Measure Information:
Title
Downstream Health Care Costs Attributable to BabySeq Project Disclosure: Days of Inpatient Care
Description
Days spent in inpatient care from disclosure of randomization status / genomic sequencing results through 10 months post-disclosure. Services were identified through a combination of chart note review, medical record review and participant surveys.
Time Frame
From disclosure through 10 Months post-disclosure (approx. 15 months after baseline).
Title
Parents' Distress
Description
Parents' Distress was assessed using validated scales measuring Anxiety and Depression, and a novel item assessing Blame with responses ranging from 1 to 5. Higher scores indicate more distress. Anxiety per the Edinburgh Postnatal Depression Scale anxiety subscale (baseline, post-disclosure, and 3 months; scores ranging from 0 to 9); Anxiety per the Generalized Anxiety Disorder Scale-7 (3 months and 10 months; scores ranging from 0 to 21); Depression per the Edinburgh Postnatal Depression Scale (baseline, post-disclosure, and 3 months; scores ranging from 0 to 30); Depression per the Patient Health Questionnaire-9 (3 months and 10 months; scores ranging from 0 to 30); Self-blame per a novel item (3 months and 10 months)
Time Frame
From baseline through 10 post-disclosure, with time points varying by measure. (Post-disclosure approx. 5 months after baseline; 3-months approx. 8 months after baseline; 10-months approx. 15 months after baseline)
Title
Parent-Child Relationship
Description
Parent-Child Relationship was assessed using validated scales measuring parents' perceptions of parenting stress (General parenting stress per the Parenting Stress Index™, 4th Edition Short Form (10 months); scores range from 36 to 180), how vulnerable they perceive their child to be (Parents' perception of baby's vulnerability per the Vulnerable Baby Scale (baseline, postdisclosure, 3 months, 10 months); scores range from 4 to 20), and how they are bonding with their child (Parent-child bonding per the Mother-to-Infant Bonding Scale (baseline, postdisclosure, 3 months, 10 months); scores range from 0 to 24). Lower bonding scores indicate more problems with bonding. For other measures, higher scores indicate higher stress and perceptions of vulnerability.
Time Frame
From baseline through 10 post-disclosure, with time points varying by measure. (Post-disclosure approx. 5 months after baseline; 3-months approx. 8 months after baseline; 10-months approx. 15 months after baseline)
Title
Parents' Relationship
Description
Parents' Relationship was assessed using validated and novel measures of marital satisfaction using the Relationship satisfaction per the Kansas Marital Satisfaction Scale (3 months; scores ranging from 3 to 15), relationship conflict per a novel item (all time points; scores ranging from 1 to 5), and partner blame per a novel item (3 months and 10 months; scores ranging from 1 to 5). Higher scores on Satisfaction indicates more Satisfaction. Higher scores on Conflict and Blame indicate higher conflict and blame.
Time Frame
From baseline through 10 post-disclosure, with time points varying by measure. Post-disclosure approx. 5 months after baseline; 3-months approx. 8 months after baseline; 10-months approx. 15 months after baseline.
Title
Downstream Health Care Utilization Attributable to BabySeq Project Disclosure: Number of Health Care Provider Visits
Description
Per-patient counts for number of health care provider visits. Services were identified through a combination of chart note review, medical record review and participant surveys.
Time Frame
From disclosure through 10 Months post-disclosure (approx. 15 months after baseline)
Title
Downstream Health Care Utilization Attributable to BabySeq Project Disclosure: Number of Current Medications at 10 Months
Description
Per-patient counts for number of current medications at 10 months. Services were identified through a combination of chart note review, medical record review and participant surveys.
Time Frame
From disclosure through 10 Months post-disclosure (approx. 15 months after baseline)
Title
Downstream Health Care Utilization Attributable to BabySeq Project Disclosure: Number of ER Visits
Description
Per-patient counts number of ER visits. Services were identified through a combination of chart note review, medical record review and participant surveys.
Time Frame
From disclosure through 10 Months post-disclosure (approx. 15 months after baseline)
Title
Downstream Health Care Utilization Attributable to BabySeq Project Disclosure: Number of Outpatient Lab Tests
Description
Per-patient counts for number of outpatient lab tests after results disclosure. Services were identified through a combination of chart note review, medical record review and participant surveys.
Time Frame
From disclosure through 10 Months post-disclosure (approx. 15 months after baseline)
Title
Downstream Health Care Utilization Attributable to BabySeq Project Disclosure
Description
Per-patient means (SDs) for healthcare costs (in U.S. dollars) after disclosure of randomization status / genomic results from the BabySeq project. Services were identified through a combination of chart note review, medical record review and participant surveys.
Time Frame
From disclosure through 10 Months post-disclosure (approx. 15 months after baseline)
Secondary Outcome Measure Information:
Title
Change in Perceived Utility Toward Genomic Sequencing
Description
A novel survey item asked participants to rate the usefulness of whole genome sequencing results for managing health on a 1-10 scale at baseline and 3 months post-disclosure. Responses were on a 10-point scale anchored by "not at all useful" (1) to "extremely useful" (10).
Time Frame
From Baseline to 3 Months post-disclosure (approx. 8 months after baseline)
Other Pre-specified Outcome Measures:
Title
Understanding
Description
A novel item assessed participants' subjective understanding of their study results on a 1-5 scale, where higher scores indicate greater subjective understanding.
Time Frame
Post-disclosure approx. 5 months after baseline
10. Eligibility
Sex
All
Accepts Healthy Volunteers
No
Eligibility Criteria
Newborns and Parents at Brigham and Women's Hospital (BWH) Well Newborn Nursery:
Inclusion Criteria :
Infants born at BWH and admitted to the Well Newborn Nursery
At least one biological parent is physically available to have genetic counseling, donate DNA, and provide consent for testing the infant. If the second biological parent is known but not physically present, the second biological parent must be available to have genetic counseling by phone, return a signed consent form by mail, and donate DNA via a mailed saliva kit. If there is a "rearing parent" (an individual who is not biologically related to the infant, but who is dedicated to raising the child), that individual must also provide consent but will not be asked to submit a saliva sample.
Mother (either rearing or biological) carried the pregnancy
Exclusion Criteria:
Parents are non-English speaking
Parents are unwilling to have genomic reports placed in the medical record or sent to their primary care pediatrician
Mother or father younger than 18 years of age
Mother or father with impaired decisional capacity
Age of infant is older than 30 days
One of a multiple gestation
Any infant in which clinical considerations preclude drawing 1.0 ml of blood
Missing consent of either biological parent (if known) or rearing parent (if applicable)
Sick Newborns and Parents at Boston Children's Hospital (BCH) or the BWH NICU:
Inclusion Criteria:
Infants admitted to BCH or the BWH NICU
At least one biological parent is physically available to have genetic counseling, donate DNA, and provide consent for testing the infant. If the second biological parent is known but not physically present, the second biological parent must be available to have genetic counseling by phone, return a signed consent form by mail, and donate DNA via a mailed saliva kit. If there is a "rearing parent" (an individual who is not biologically related to the infant, but who is dedicated to raising the child), that individual must also provide consent but will not be asked to submit a saliva sample.
Mother (either biological or rearing) carried the pregnancy
Exclusion Criteria:
Parents are non-English speaking
Parents are unwilling to have genomic reports placed in the medical record or sent to their primary care pediatrician
Mother or father younger than 18 years of age
Mother or father with impaired decisional capacity
Age of infant is older than 30 days
One of a multiple gestation
Any infant in which clinical considerations preclude drawing 1.0 ml of blood
Hospital admission expected to be less than 72 hours
Missing consent of either biological parent (if known) or rearing parent (if applicable)
Previously performed exome/genome sequencing on patient
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Robert C. Green, MD, MPH
Organizational Affiliation
Brigham and Women's Hospital
Official's Role
Principal Investigator
First Name & Middle Initial & Last Name & Degree
Alan Beggs, PhD
Organizational Affiliation
Boston Children's Hospital
Official's Role
Principal Investigator
Facility Information:
Facility Name
Boston Children's Hospital
City
Boston
State/Province
Massachusetts
ZIP/Postal Code
02115
Country
United States
Facility Name
Brigham and Women's Hospital
City
Boston
State/Province
Massachusetts
ZIP/Postal Code
02115
Country
United States
12. IPD Sharing Statement
Citations:
PubMed Identifier
25474344
Citation
Waisbren SE, Back DK, Liu C, Kalia SS, Ringer SA, Holm IA, Green RC. Parents are interested in newborn genomic testing during the early postpartum period. Genet Med. 2015 Jun;17(6):501-4. doi: 10.1038/gim.2014.139. Epub 2014 Dec 4.
Results Reference
background
Citation
Green RC, Rehm HL, Kohane IS. Clinical genome sequencing. In: Ginsburg GS, Willard HF, eds. Genomic and Personalized Medicine. Vol 1. 2nd ed. San Diego: Academic Press; 2013: 102-122.
Results Reference
background
PubMed Identifier
24618965
Citation
Dewey FE, Grove ME, Pan C, Goldstein BA, Bernstein JA, Chaib H, Merker JD, Goldfeder RL, Enns GM, David SP, Pakdaman N, Ormond KE, Caleshu C, Kingham K, Klein TE, Whirl-Carrillo M, Sakamoto K, Wheeler MT, Butte AJ, Ford JM, Boxer L, Ioannidis JP, Yeung AC, Altman RB, Assimes TL, Snyder M, Ashley EA, Quertermous T. Clinical interpretation and implications of whole-genome sequencing. JAMA. 2014 Mar 12;311(10):1035-45. doi: 10.1001/jama.2014.1717.
Results Reference
background
PubMed Identifier
21920049
Citation
Gilissen C, Hoischen A, Brunner HG, Veltman JA. Unlocking Mendelian disease using exome sequencing. Genome Biol. 2011 Sep 14;12(9):228. doi: 10.1186/gb-2011-12-9-228.
Results Reference
background
PubMed Identifier
22248320
Citation
Gonzaga-Jauregui C, Lupski JR, Gibbs RA. Human genome sequencing in health and disease. Annu Rev Med. 2012;63:35-61. doi: 10.1146/annurev-med-051010-162644.
Results Reference
background
Citation
The President's Council on Bioethics. The changing moral focus of newborn screening: An ethical analysis by the President's Council on Bioethics. 2008; http://bioethics.georgetown.edu/pcbe/reports/newborn_screening.
Results Reference
background
PubMed Identifier
23035047
Citation
Saunders CJ, Miller NA, Soden SE, Dinwiddie DL, Noll A, Alnadi NA, Andraws N, Patterson ML, Krivohlavek LA, Fellis J, Humphray S, Saffrey P, Kingsbury Z, Weir JC, Betley J, Grocock RJ, Margulies EH, Farrow EG, Artman M, Safina NP, Petrikin JE, Hall KP, Kingsmore SF. Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units. Sci Transl Med. 2012 Oct 3;4(154):154ra135. doi: 10.1126/scitranslmed.3004041.
Results Reference
background
PubMed Identifier
24088041
Citation
Yang Y, Muzny DM, Reid JG, Bainbridge MN, Willis A, Ward PA, Braxton A, Beuten J, Xia F, Niu Z, Hardison M, Person R, Bekheirnia MR, Leduc MS, Kirby A, Pham P, Scull J, Wang M, Ding Y, Plon SE, Lupski JR, Beaudet AL, Gibbs RA, Eng CM. Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med. 2013 Oct 17;369(16):1502-11. doi: 10.1056/NEJMoa1306555. Epub 2013 Oct 2.
Results Reference
background
PubMed Identifier
25229935
Citation
Biesecker LG, Green RC. Diagnostic clinical genome and exome sequencing. N Engl J Med. 2014 Sep 18;371(12):1170. doi: 10.1056/NEJMc1408914. No abstract available.
Results Reference
background
PubMed Identifier
24645908
Citation
Vassy JL, Lautenbach DM, McLaughlin HM, Kong SW, Christensen KD, Krier J, Kohane IS, Feuerman LZ, Blumenthal-Barby J, Roberts JS, Lehmann LS, Ho CY, Ubel PA, MacRae CA, Seidman CE, Murray MF, McGuire AL, Rehm HL, Green RC; MedSeq Project. The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine. Trials. 2014 Mar 20;15:85. doi: 10.1186/1745-6215-15-85.
Results Reference
background
PubMed Identifier
24406460
Citation
Holm IA, Savage SK, Green RC, Juengst E, McGuire A, Kornetsky S, Brewster SJ, Joffe S, Taylor P. Guidelines for return of research results from pediatric genomic studies: deliberations of the Boston Children's Hospital Gene Partnership Informed Cohort Oversight Board. Genet Med. 2014 Jul;16(7):547-52. doi: 10.1038/gim.2013.190. Epub 2014 Jan 9.
Results Reference
background
PubMed Identifier
15173476
Citation
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 Jun;113(6):1573-81. doi: 10.1542/peds.113.6.1573.
Results Reference
background
PubMed Identifier
16202773
Citation
Wilfond BS, Parad RB, Fost N. Balancing benefits and risks for cystic fibrosis newborn screening: implications for policy decisions. J Pediatr. 2005 Sep;147(3 Suppl):S109-13. doi: 10.1016/j.jpeds.2005.08.019.
Results Reference
background
PubMed Identifier
25255367
Citation
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 May;17(5):337-47. doi: 10.1038/gim.2014.117. Epub 2014 Sep 25.
Results Reference
background
Citation
Connolly M, Holm I, Beggs A, Agrawal P. Bringing current research technology to the clinic: The Manton Center for Orphan Disease Research Gene Discovery Core (Platform Abstract/Program 45). Paper presented at: 12th International Congress of Human Genetics/61st Annual Meeting of The American Society of Human Genetics; October 12, 2011, 2011; Montreal, Canada.
Results Reference
background
PubMed Identifier
18087293
Citation
McGuire AL, Caulfield T, Cho MK. Research ethics and the challenge of whole-genome sequencing. Nat Rev Genet. 2008 Feb;9(2):152-6. doi: 10.1038/nrg2302.
Results Reference
background
PubMed Identifier
14970058
Citation
Waisbren SE, Levy HL. Expanded screening of newborns for genetic disorders. JAMA. 2004 Feb 18;291(7):820-1; author reply 821. doi: 10.1001/jama.291.7.820-c. No abstract available.
Results Reference
background
PubMed Identifier
28096516
Citation
Berg JS, Agrawal PB, Bailey DB Jr, 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 Feb;139(2):e20162252. doi: 10.1542/peds.2016-2252. Epub 2017 Jan 17.
Results Reference
background
PubMed Identifier
28079900
Citation
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 Jul;19(7):809-818. doi: 10.1038/gim.2016.193. Epub 2017 Jan 12.
Results Reference
background
PubMed Identifier
29728376
Citation
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; BabySeq Project Team. Reconciling newborn screening and a novel splice variant in BTD associated with partial biotinidase deficiency: a BabySeq Project case report. Cold Spring Harb Mol Case Stud. 2018 Aug 1;4(4):a002873. doi: 10.1101/mcs.a002873. Print 2018 Aug.
Results Reference
background
PubMed Identifier
29986673
Citation
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; BabySeq Project Team; Green RC, Beggs AH. The BabySeq project: implementing genomic sequencing in newborns. BMC Pediatr. 2018 Jul 9;18(1):225. doi: 10.1186/s12887-018-1200-1.
Results Reference
background
PubMed Identifier
30209271
Citation
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; BabySeq Project Team. Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq Project. Genet Med. 2019 Mar;21(3):622-630. doi: 10.1038/s41436-018-0105-6. Epub 2018 Sep 13.
Results Reference
background
PubMed Identifier
30609409
Citation
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; BabySeq Project Team. Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project. Am J Hum Genet. 2019 Jan 3;104(1):76-93. doi: 10.1016/j.ajhg.2018.11.016.
Results Reference
background
PubMed Identifier
30600265
Citation
Pereira S, Robinson JO, Gutierrez AM, Petersen DK, Hsu RL, Lee CH, Schwartz TS, Holm IA, Beggs AH, Green RC, McGuire AL; BabySeq Project Group. Perceived Benefits, Risks, and Utility of Newborn Genomic Sequencing in the BabySeq Project. Pediatrics. 2019 Jan;143(Suppl 1):S6-S13. doi: 10.1542/peds.2018-1099C.
Results Reference
background
PubMed Identifier
30600270
Citation
Holm IA, McGuire A, Pereira S, Rehm H, Green RC, Beggs AH; BabySeq Project Team. Returning a Genomic Result for an Adult-Onset Condition to the Parents of a Newborn: Insights From the BabySeq Project. Pediatrics. 2019 Jan;143(Suppl 1):S37-S43. doi: 10.1542/peds.2018-1099H.
Results Reference
background
PubMed Identifier
30600268
Citation
VanNoy GE, Genetti CA, McGuire AL, Green RC, Beggs AH, Holm IA; BabySeq Project Group. Challenging the Current Recommendations for Carrier Testing in Children. Pediatrics. 2019 Jan;143(Suppl 1):S27-S32. doi: 10.1542/peds.2018-1099F.
Results Reference
background
PubMed Identifier
31831882
Citation
Lu CY, Hendricks-Sturrup RM, Mazor KM, McGuire AL, Green RC, Rehm HL. The case for implementing sustainable routine, population-level genomic reanalysis. Genet Med. 2020 Apr;22(4):815-816. doi: 10.1038/s41436-019-0719-3. Epub 2019 Dec 12. No abstract available.
Results Reference
background
PubMed Identifier
32389220
Citation
Mackay ZP, Dukhovny D, Phillips KA, Beggs AH, Green RC, Parad RB, Christensen KD; BabySeq Project Team. Quantifying Downstream Healthcare Utilization in Studies of Genomic Testing. Value Health. 2020 May;23(5):559-565. doi: 10.1016/j.jval.2020.01.017. Epub 2020 Mar 20.
Results Reference
background
PubMed Identifier
35571041
Citation
Armstrong B, Christensen KD, Genetti CA, Parad RB, Robinson JO, Blout Zawatsky CL, Zettler B, Beggs AH, Holm IA, Green RC, McGuire AL, Smith HS, Pereira S; BabySeq Project Team. Parental Attitudes Toward Standard Newborn Screening and Newborn Genomic Sequencing: Findings From the BabySeq Study. Front Genet. 2022 Apr 27;13:867371. doi: 10.3389/fgene.2022.867371. eCollection 2022.
Results Reference
derived
PubMed Identifier
34424265
Citation
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; BabySeq Project Team. Psychosocial Effect of Newborn Genomic Sequencing on Families in the BabySeq Project: A Randomized Clinical Trial. JAMA Pediatr. 2021 Nov 1;175(11):1132-1141. doi: 10.1001/jamapediatrics.2021.2829.
Results Reference
derived
PubMed Identifier
34309124
Citation
Schwartz TS, Christensen KD, Uveges MK, Waisbren SE, McGuire AL, Pereira S, Robinson JO, Beggs AH, Green RC; BabySeq Project Team; Bachmann GA, Rabson AB, Holm IA. Effects of participation in a U.S. trial of newborn genomic sequencing on parents at risk for depression. J Genet Couns. 2022 Feb;31(1):218-229. doi: 10.1002/jgc4.1475. Epub 2021 Jul 26.
Results Reference
derived
PubMed Identifier
30600272
Citation
Knapp B, Decker C, Lantos JD. Neonatologists' Attitudes About Diagnostic Whole-Genome Sequencing in the NICU. Pediatrics. 2019 Jan;143(Suppl 1):S54-S57. doi: 10.1542/peds.2018-1099J.
Results Reference
derived
Links:
URL
https://www.genomes2people.org/research/babyseq/
Description
Related Info
Learn more about this trial
Genomic Sequencing for Childhood Risk and Newborn Illness
We'll reach out to this number within 24 hrs