Hereditary DiseaseNCT02422511

Genomic Sequencing for Childhood Risk and Newborn Illness

A study testing Genomic sequencing and Family history report in people with Hereditary Disease and Genetic Predisposition to Disease, run by Brigham and Women's Hospital at 2 sites in United States.

Completed

Finished. The study has ended and is not enrolling. Results may be posted on the official record.

Official record

Search all trials

Trial 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. Read more about this study

Who is it for?: Any age
Conditions the study is for: Hereditary Disease, Genetic Predisposition to Disease
What is being tested?: Genomic sequencing and Family history report
Could I receive a placebo?: No, everyone receives an active treatment
How many people: 1,205 participants
Where: 2 sitesUnited States
Study dates: May 2015to 5 Aug 2021
Phase: Interventional
Are there results?: Yes, posted in the registrySummary in the doctors' view

Key requirements

Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.

Ages Any age
All sexes
No healthy volunteers
Child, Adult, Older adult

Who may be able to join

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
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

Who cannot join

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

Show all 19Show fewer

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:
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

Trial locations and contacts

2 sites in 1 country.

United States2 sites

Boston Children's Hospital
Boston, Massachusetts, 02115
Brigham and Women's Hospital
Boston, Massachusetts, 02115

Other trials in United States

About this study

Official title: Genomic Sequencing for Childhood Risk and Newborn Illness (The BabySeq Project)

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.

Read the 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.

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.

Conditions: Hereditary Disease, Genetic Predisposition to Disease
Being tested: Genomic sequencing, Family history report
Keywords: Genome Sequencing, Exome Sequencing, Newborn Screening, Childhood Onset Genetic Conditions
Medical subject headings: Genetic Diseases, Inborn, Genetic Predisposition to Disease

What participants receive

What participants receive. In a randomised study each person is assigned to one group by chance.

Genomic sequencingGenetic
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.
Family history reportOther
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.

Study groups in NCT02422511
Study group	Role	What they receive
Well Baby Family History Only	Active comparator	Parents of newborns in well-baby units receive an Annotated Family History Report only. Active Comparator: Standard of Care Only: Family History report only Receives: Other: Family history report
Well Baby Family History + Exome Sequencing	Experimental	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 Receives: Genetic: Genomic sequencing; Other: Family history report
ICU Baby Family History Only	Active comparator	Parents of newborns in intensive care units receive an Annotated Family History Report only. Active Comparator: Standard of Care Only: Family History report only Receives: Other: Family history report
ICU Baby Family History + Exome Sequencing	Experimental	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 Receives: Genetic: Genomic sequencing; Other: Family history report

What is being measured

The primary outcome is the main question the study is designed to answer.

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.
Measured: From disclosure through 10 Months post-disclosure (approx. 15 months after baseline).
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)
Measured: 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)
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.
Measured: 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)
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.
Measured: 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.
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.
Measured: From disclosure through 10 Months post-disclosure (approx. 15 months after baseline)
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.
Measured: From disclosure through 10 Months post-disclosure (approx. 15 months after baseline)
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.
Measured: From disclosure through 10 Months post-disclosure (approx. 15 months after baseline)
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.
Measured: From disclosure through 10 Months post-disclosure (approx. 15 months after baseline)
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.
Measured: From disclosure through 10 Months post-disclosure (approx. 15 months after baseline)

Secondary outcomes (1)

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).
Measured: From Baseline to 3 Months post-disclosure (approx. 8 months after baseline)

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

May 20155 Aug 2021

First posted21 Apr 2015 (estimated)
Study startMay 2015
Primary completionApr 2020
Study completion5 Aug 2021

Resources

Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
Posted resultsParticipant flow, outcome measures and adverse events reported by the sponsor.
Publications (32)Papers the sponsor has linked to this study.
Other trials for Hereditary DiseaseStudies of the same condition, open and under way.
More trials run by Brigham and Women's HospitalThe sponsor's other registered studies.
What the trial phases meanHow a treatment moves from first tests in people to approval.

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.

Study design

Study type: Interventional
Phase: Phase N/A
Primary purpose: Other
Allocation: Randomised
Intervention model: Parallel groups
Masking: Single blind
Who is masked: Participant
Enrolment: 1,205 participants (actual)

IDs, dates and publications

ClinicalTrials.gov ID: NCT02422511
Sponsor's protocol ID: The BabySeq Project
Other IDs: U19HD077671
Status last verified: Apr 2024
First submitted: 10 Apr 2015
Last updated: 3 Apr 2024
Results posted: Yes, on ClinicalTrials.gov
Data monitoring committee: Yes

Publications

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.
PubMed 25474344
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.
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.
PubMed 24618965
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.
PubMed 21920049
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.
PubMed 22248320
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.
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.
PubMed 23035047
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.
PubMed 24088041
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.
PubMed 25229935
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.
PubMed 24645908
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.
PubMed 24406460
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.
PubMed 15173476
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.
PubMed 16202773
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.
PubMed 25255367
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.

Want to know more?

The sponsor has not listed a contact. The official record may have more details.

Talk to your doctor first and take this page with you. Only the study team can confirm whether you can join.

Questions to ask the study team

What is the study trying to find out?
What would I need to do, and how often would I visit?
Could I receive a placebo instead of the treatment?
What are the possible risks and benefits for me?
Will it cost me anything? Are travel or time paid for?
Can I keep seeing my own doctor during the study?
What happens when the study ends?

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Study at a glance

From the registry record, last updated by the sponsor on 3 Apr 2024. Recruitment status is as the sponsor reported it: confirm with the study team.

Official title: Genomic Sequencing for Childhood Risk and Newborn Illness (The BabySeq Project)
ClinicalTrials.gov ID: NCT02422511
Acronym / sponsor ID: The BabySeq Project
Conditions: Hereditary Disease, Genetic Predisposition to Disease
Keywords: Genome Sequencing, Exome Sequencing, Newborn Screening, Childhood Onset Genetic Conditions
Study type: Interventional
Recruitment status: Completed
Enrolment: 1,205 participants (actual)
Lead sponsor: Brigham and Women's HospitalUniversity, hospital or other
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
Study start: May 2015
Primary completion: Apr 2020 (actual)
Study completion: 5 Aug 2021 (actual)
First posted: 21 Apr 2015 (estimated)
Results: Posted 31 Aug 2021

Clinical summary

The research question as the sponsor registered it. This describes what the study plans to test, not what it found.

Detailed description

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.

Study design

Primary purpose: Other
Allocation: Randomised
Intervention model: Parallel groups
Masking: Single blind (participant)
Number of arms: 4

Arm	Type	Receives
Well Baby Family History Only	Active comparator	Other: Family history reportParents of newborns in well-baby units receive an Annotated Family History Report only. Active Comparator: Standard of Care Only: Family History report only
Well Baby Family History + Exome Sequencing	Experimental	Genetic: Genomic sequencing, Other: Family history reportParents 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
ICU Baby Family History Only	Active comparator	Other: Family history reportParents of newborns in intensive care units receive an Annotated Family History Report only. Active Comparator: Standard of Care Only: Family History report only
ICU Baby Family History + Exome Sequencing	Experimental	Genetic: Genomic sequencing, Other: Family history reportParents 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

Who may qualify

Sex: All
Healthy volunteers: Not accepted
Age groups: Child, Adult, Older adult

Key inclusion criteria (6 listed)

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
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.

Key exclusion criteria (19 listed)

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

Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.

Interventions

Intervention	Type	Arms
Genomic sequencingBoth 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.	Genetic	ICU Baby Family History + Exome Sequencing, Well Baby Family History + Exome Sequencing
Family history reportParticipants 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.	Other	ICU Baby Family History + Exome Sequencing, ICU Baby Family History Only, Well Baby Family History + Exome Sequencing, Well Baby Family History Only

Primary outcome

Downstream Health Care Costs Attributable to BabySeq Project Disclosure: Days of Inpatient Care
Time frame: From disclosure through 10 Months post-disclosure (approx. 15 months after baseline).
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
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)
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
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)
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
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.
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
Time frame: From disclosure through 10 Months post-disclosure (approx. 15 months after baseline)
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
Time frame: From disclosure through 10 Months post-disclosure (approx. 15 months after baseline)
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
Time frame: From disclosure through 10 Months post-disclosure (approx. 15 months after baseline)
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
Time frame: From disclosure through 10 Months post-disclosure (approx. 15 months after baseline)
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
Time frame: From disclosure through 10 Months post-disclosure (approx. 15 months after baseline)
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.

1 secondary outcome

Change in Perceived Utility Toward Genomic Sequencing
Time frame: From Baseline to 3 Months post-disclosure (approx. 8 months after baseline)

Results and safety

Results posted to the registry on 31 Aug 2021, as reported by the sponsor. Figures are copied from the record, not re-analysed. Full results on ClinicalTrials.gov.

Participant flow

Group	Started	Completed
Well Baby Parents: Family History Only	255	143
Well Babies: Family History Only	128	0
Well Baby Parents: Family History + Exome Sequencing	257	168
Well Babies: Family History + Exome Sequencing	129	0
ICU Baby Parents: Family History Only	66	39
ICU Babies: Family History Only	33	0
ICU Baby Parents: Family History + Exome Sequencing	68	38
ICU Babies: Family History + Exome Sequencing	34	0

Primary outcome: Downstream Health Care Costs Attributable to BabySeq Project Disclosure: Days of Inpatient Care

Time frame: From disclosure through 10 Months post-disclosure (approx. 15 months after baseline).. Mean (Standard Deviation). Unit: Days

Measure	Well Baby Family History Only n = 116	Well Baby Family History + Exome Sequencing n = 121	ICU Baby Family History Only n = 31	ICU Baby Family History + Exome Sequencing n = 30
Value	0.1 (0.4)	0.0 (0.3)	3.1 (12.9)	3.8 (12.9)

Population analysed: The analysis population included infants enrolled in the BabySeq project. Data was not available for all participants due to withdrawal or non-responsiveness to follow up surveys.

Primary outcome: Parents' Distress

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). Mean (Standard Deviation). Unit: score on a scale

Measure	Well Baby Family History Only n = 202	Well Baby Family History + Exome Sequencing n = 203	ICU Baby Family History Only n = 53	ICU Baby Family History + Exome Sequencing n = 60
Anxiety per the Edinburgh Postnatal Depression Scale anxiety subscale - baseline	2.6 (1.83)	2.75 (1.83)	3.04 (2.1)	3.28 (2.05)
Anxiety per the Edinburgh Postnatal Depression Scale anxiety subscale - Postdisclosure	2.19 (1.86)	2.34 (1.91)	2.44 (2.29)	2.56 (1.83)
Anxiety per the Edinburgh Postnatal Depression Scale anxiety subscale - 3 months	1.86 (1.87)	1.97 (1.86)	2.16 (2.07)	2.24 (1.83)
Anxiety per the Generalized Anxiety Disorder Scale-7 - 3 months	2.4 (2.99)	2.47 (2.83)	3.34 (3.77)	3.72 (4.52)
Anxiety per the Generalized Anxiety Disorder Scale-7 - 10 months	2.46 (3.06)	2.77 (3.10)	3.43 (4.2)	2.25 (2.92)
Depression per the Edinburgh Postnatal Depression Scale - baseline	4.68 (3.62)	4.96 (3.64)	6.51 (4.69)	6.69 (4.72)
Depression per the Edinburgh Postnatal Depression Scale - postdisclosure	4.12 (3.51)	4.38 (3.85)	5.0 (5.03)	4.92 (4.54)
Depression per the Edinburgh Postnatal Depression Scale - 3 months	3.53 (3.45)	3.96 (3.68)	5.13 (4.90)	4.54 (4.33)

Population analysed: The analysis population included parents of infants enrolled in the BabySeq project. Data was not available for all participants due to withdrawal or non-responsiveness to follow up surveys.

Primary outcome: Parent-Child Relationship

Measure	Well Baby Family History Only n = 212	Well Baby Family History + Exome Sequencing n = 212	ICU Baby Family History Only n = 54	ICU Baby Family History + Exome Sequencing n = 63
Parent-child bonding per the Mother-to-Infant Bonding Scale - baseline	1.6 (1.83)	1.35 (1.82)	1.45 (1.76)	1.71 (1.65)
Parent-child bonding per the Mother-to-Infant Bonding Scale - postdisclosure	1.18 (1.64)	1.15 (1.45)	1.05 (1.25)	0.95 (1.21)
Parent-child bonding per the Mother-to-Infant Bonding Scale - 3 months	1.48 (1.79)	1.36 (1.63)	1.56 (1.90)	1.03 (1.36)
Parent-child bonding per the Mother-to-Infant Bonding Scale - 10 months	1.47 (1.81)	1.45 (1.81)	1.74 (3.14)	1.30 (1.57)
Vulnerable Baby Scale - baseline	9.02 (2.82)	9.11 (2.82)	13.01 (3.88)	13.54 (3.58)
Vulnerable Baby Scale - postdisclosure	8.03 (2.44)	8.59 (2.79)	10.24 (3.37)	11.55 (3.72)
Vulnerable Baby Scale - 3 months	8.17 (2.63)	8.27 (2.79)	9.77 (3.61)	9.84 (3.32)
Vulnerable Baby Scale - 10 months	7.3 (2.3)	7.46 (2.32)	8.51 (3.06)	9.21 (3.14)

Primary outcome: Parents' Relationship

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.. Mean (Standard Deviation). Unit: score on a scale

Measure	Well Baby Family History Only n = 210	Well Baby Family History + Exome Sequencing n = 210	ICU Baby Family History Only n = 55	ICU Baby Family History + Exome Sequencing n = 62
Kansas Marital Satisfaction Scale - 3 months	15.0 (2.47)	13.14 (2.12)	12.94 (2.12)	12.92 (2.34)
relationship conflict - baseline	1.92 (0.77)	1.99 (0.75)	2.01 (0.80)	1.87 (0.76)
relationship conflict - postdisclosure	2.01 (0.74)	2.09 (0.75)	1.89 (0.77)	2.02 (0.76)
relationship conflict - 3 months	2.0 (0.74)	2.17 (0.74)	2.05 (0.90)	2.02 (0.75)
relationship conflict - 10 months	2.09 (0.83)	2.21 (0.78)	2.27 (1.12)	2.04 (0.82)
partner blame 3 months	1.69 (0.64)	1.86 (0.81)	2.03 (0.85)	1.85 (0.71)
partner blame 10 months	1.87 (0.79)	1.72 (0.71)	2.13 (0.91)	1.71 (0.46)

1 secondary outcome is reported in the full results.

Adverse events

Time frame: From enrollment through 10 months after disclosure of family history and/or newborn genomic sequencing results to families.. Other adverse events reported at 0% frequency or more

Group	Serious adverse events	Other adverse events	Deaths
Well Baby Parents: Family History Only	0 of 255 (0%)	0 of 255 (0%)	0 of 255
Well Babies: Family History Only	0 of 128 (0%)	0 of 128 (0%)	0 of 128
Well Baby Parents: Family History + Exome Sequencing	0 of 257 (0%)	0 of 257 (0%)	0 of 257
Well Babies: Family History + Exome Sequencing	0 of 129 (0%)	0 of 129 (0%)	0 of 129
ICU Baby Parents: Family History Only	0 of 66 (0%)	0 of 66 (0%)	0 of 66
ICU Babies: Family History Only	0 of 33 (0%)	0 of 33 (0%)	0 of 33
ICU Baby Parents: Family History + Exome Sequencing	0 of 68 (0%)	0 of 68 (0%)	0 of 68
ICU Babies: Family History + Exome Sequencing	0 of 34 (0%)	0 of 34 (0%)	0 of 34

Loading the posted results from ClinicalTrials.gov…

Research links

Official record on ClinicalTrials.govLast updated by the sponsor 3 Apr 2024.
Posted resultsParticipant flow, baseline, all outcome measures and adverse events.
Background: PubMed 25474344Waisbren 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.
BackgroundGreen 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.
Background: PubMed 24618965Dewey 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.
Background: PubMed 21920049Gilissen 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.
Background: PubMed 22248320Gonzaga-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.
BackgroundThe 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.
Background: PubMed 23035047Saunders 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.
Background: PubMed 24088041Yang 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.
Background: PubMed 25229935Biesecker 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.
Background: PubMed 24645908Vassy 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.
Background: PubMed 24406460Holm 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.
Background: PubMed 15173476Comeau 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.
Related InfoLink provided by the sponsor.

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Referral and contact

AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.

Robert C. Green, MD, MPH principal investigator

Brigham and Women's Hospital

Alan Beggs, PhD principal investigator

Boston Children's Hospital

2 sites in 1 country: see every site and its status.

Questions about this trial

What is this clinical trial studying?

A study testing Genomic sequencing and Family history report in people with Hereditary Disease and Genetic Predisposition to Disease, run by Brigham and Women's Hospital at 2 sites in United States.

The full registered description is in the About this study section and the official record.

Who may be eligible to take part?

The sponsor lists 6 inclusion and 19 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.

Is this clinical trial currently recruiting?

The record says: finished, as of the sponsor's last update on 3 Apr 2024. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 2 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.

What are the possible benefits and risks?

They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.

Are results available for this study?

Yes. Results are posted in the registry (first posted 31 Aug 2021). A summary is in the For doctors view, and the full results are on ClinicalTrials.gov.

How can a doctor refer a patient or contact the research team?

The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.

What does the primary outcome measure?

Downstream Health Care Costs Attributable to BabySeq Project Disclosure: Days of Inpatient Care (time frame: From disclosure through 10 Months post-disclosure (approx. 15 months after baseline).). The study lists 9 primary outcomes in all. It is what the study was designed to measure, not a finding.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT02422511, which also lists 32 linked publications.

Does a listing mean the treatment is approved or proven to work?

No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.

How often is this information updated?

AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 3 Apr 2024.