North Carolina Newborn Exome Sequencing for Universal Screening (NC_NEXUS)
Tutkimuksen yleiskatsaus
Tila
Yksityiskohtainen kuvaus
The investigators will enroll and perform whole exome sequencing on two cohorts of patients. One cohort will consist of two hundred newborns with no known conditions whose parents will be recruited during the mother's pregnancy. The second cohort will include two hundred infants and children up to the age of five years with diagnosed conditions including conditions detected through standard newborn screening such as phenylketonuria and other inborn errors of metabolism, hearing loss and other rare conditions that may fit criteria for newborn screening in the future.
Parents will be introduced to the study by their clinician or a study recruiter. Those who agree to enroll in Phase I will review an online decision guide and be offered a study visit conducted by a genetic counselor to obtain informed consent for genomic sequencing of their child. Parents consenting to have their child's genome sequenced will be seen after the child's birth or at a convenient pre-arranged time and duplicate saliva samples will be collected from the children and one sample will be sent to the BioSpecimen Processing (BSP) Facility and to Dr. Jonathan Berg's laboratory for sequencing and the other sent to the Molecular Genetics Laboratory (MGL) for DNA extraction and storage until needed for clinical confirmation. Results will be returned for diagnostic (in the Diagnosed cohort) and medically actionable disorders of childhood (both cohorts). Two-thirds of parents who consent to sequencing will be randomly assigned to be eligible to request additional findings and use a supplement of the online decision aid. All results will be reported to parents by trained genetic professionals (genetic counselors and clinical geneticists)
Opintotyyppi
Ilmoittautuminen (Todellinen)
Vaihe
- Ei sovellettavissa
Yhteystiedot ja paikat
Opiskelupaikat
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North Carolina
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Chapel Hill, North Carolina, Yhdysvallat, 27599
- Unc Hospitals
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Osallistumiskriteerit
Kelpoisuusvaatimukset
Opintokelpoiset iät
Hyväksyy terveitä vapaaehtoisia
Sukupuolet, jotka voivat opiskella
Kuvaus
Inclusion Criteria:
- Uncomplicated pregnancy and healthy newborn
Exclusion Criteria:
- Abnormalities such as major malformation or chromosomal disorder detected prenatally or significant complications during pregnancy or at the time of delivery.
Opintosuunnitelma
Miten tutkimus on suunniteltu?
Suunnittelun yksityiskohdat
- Ensisijainen käyttötarkoitus: Diagnostiikka
- Jako: Satunnaistettu
- Inventiomalli: Rinnakkaistehtävä
- Naamiointi: Ei mitään (avoin tarra)
Aseet ja interventiot
Osallistujaryhmä / Arm |
Interventio / Hoito |
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Muut: Well infant, whole exome sequencing
Healthy infants and their parents enrolled in the study prenatally will participate.
After the infant is born saliva sample will be collected for DNA extraction and whole exome sequencing will be done.
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Whole exome sequencing will be performed in children with diagnosed conditions.
Investigators will analyze results that are associated with their condition.
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Muut: Diagnosed, whole exome sequencing
Infants and children with diagnosed conditions whose parents enroll in the study and consent to having their child sequenced will have saliva samples obtained and whole exome sequencing will be done on extracted DNA.
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In addition to returning results of conditions associated with a child's phenotype, investigators will also analyze genes that are associated with conditions that have childhood onset and are medically actionable.
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Mitä tutkimuksessa mitataan?
Ensisijaiset tulostoimenpiteet
Tulosmittaus |
Toimenpiteen kuvaus |
Aikaikkuna |
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Parental Choices Following Decision Aid
Aikaikkuna: average of 3-6 months
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Analysis of parents' decisions after they complete an on-line decision aid to see if they wish to participate in the study.
Options will be yes, no, or undecided.
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average of 3-6 months
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Number of Participants Identified With Genetic Conditions Through Whole Exome Sequencing
Aikaikkuna: approximately 3-6 months after DNA sample obtained
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Investigators analyzed next generation sequencing (NGS) results in the diagnosed cohort to determine the ability of whole exome sequencing to detect pathogenic variants in genes related to phenotype determined by standard newborn screening (NBS).
The category of genes analyzed is termed the Next Generation Sequencing/Newborn Screening (NGS/NBS) category.
Healthy newborns with no known genetic conditions also had the NGS/NBS category of genes analyzed.
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approximately 3-6 months after DNA sample obtained
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Toissijaiset tulostoimenpiteet
Tulosmittaus |
Toimenpiteen kuvaus |
Aikaikkuna |
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Parental Reaction Scores
Aikaikkuna: Time 3 - 2 weeks after results visit and Time 4 - 3 months after results visit
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Test-related distress is assessed with an adapted version of the Multidimensional Impact of Cancer Risk Assessment (MICRA).
It asks participants to report how often in the past week they have experienced worries and distress related to their child's genomic sequencing procedure and test results, and the social and familial consequences of sequencing and the test results.
Possible responses are provided on the following scale: 0=Never, 1=Rarely, 3=Sometimes, and 5=Often.
Because it refers to respondents' experience of their child's sequencing and the test results they received, it is administered only in assessments that occurred after sequencing at Time 3 (2 weeks after results visit and Time 4 (3 months after results visit).
Comparisons are made between couples who could chose to receive additional information about their child's genome and a control group who were not eligible to receive additional information.
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Time 3 - 2 weeks after results visit and Time 4 - 3 months after results visit
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Yhteistyökumppanit ja tutkijat
Yhteistyökumppanit
Tutkijat
- Päätutkija: Jonathan Berg, MD, PhD, University of North Carolina School of Medicine Department of Genetics
- Päätutkija: Cynthia M Powell, MD, University of North Carolina School of Medicine Department of Pediatrics
Julkaisuja ja hyödyllisiä linkkejä
Opintojen ennätyspäivät
Opi tärkeimmät päivämäärät
Opiskelun aloitus
Ensisijainen valmistuminen (Todellinen)
Opintojen valmistuminen (Todellinen)
Opintoihin ilmoittautumispäivät
Ensimmäinen lähetetty
Ensimmäinen toimitettu, joka täytti QC-kriteerit
Ensimmäinen Lähetetty (Arvio)
Tutkimustietojen päivitykset
Viimeisin päivitys julkaistu (Todellinen)
Viimeisin lähetetty päivitys, joka täytti QC-kriteerit
Viimeksi vahvistettu
Lisää tietoa
Tähän tutkimukseen liittyvät termit
Muita asiaankuuluvia MeSH-ehtoja
Muut tutkimustunnusnumerot
- 13-2409
- 5U19HD077632 (Yhdysvaltain NIH-apuraha/sopimus)
Yksittäisten osallistujien tietojen suunnitelma (IPD)
Aiotko jakaa yksittäisten osallistujien tietoja (IPD)?
IPD-suunnitelman kuvaus
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