Main Investigator: Joseph Stanford
Keywords: Genetics , Family unit , National Children'southward Study , Utah , Wellness Section: UofU-Family unit AND PREVENTIVE MEDICINE
IRB Number: 00063183
Specialty: Family unit Medicine
Sub Specialties: Occupational and Environmental Wellness
Recruitment Status: Active, not recruiting

Contact Information

Leslie Palmer
leslie.palmer@hsc.utah.edu
801-587-8973

Brief Summary

This project will recruit and maintain a cohort of approximately 1000 Utah children and their families, which will yield a database for genomics and environmental exposures. These data volition be used past University of Utah and Primary Children'due south Hospital (PCH) investigators to further investigate the role of genetics and the environment in various disease processes or as determinants of health.  Investigations volition include next generation genotype and cistron expression assays.  Storage of biological and environmental specimens obtained will ensure long-term viability and allow additional analyses of environmental exposure, genotyping and gene expression in the future.

We hypothesize that we can recruit and maintain a cohort of approximately 1000 Utah children and their families of which at least 75% of the children will have demonstrated familial linkages through the Utah Population Database (UPDB).

The projection aims are:

To recruit a cohort of couples who are planning pregnancy or are currently pregnant, children, their parents and where feasible and available, siblings and grandparents to provide:

  • a cohort for nested genomic, factor expression, and ecology studies for relatively common conditions over the span of preconception through adulthood, including developmental outcomes.
  • inclusion of grandparents (where available) and additional siblings, both current and time to come, of the proband kid to allow for more robust investigation of the impact of specific genes or exposures on different health conditions or developmental outcomes
  • a accomplice to be used as controls for genomic, gene expression and environmental studies involving rare diseases, where appropriately defined cases would be obtained from outside the accomplice nether a split up written report protocol.
  • To obtain biological specimens and environmental exposure data from each participant to provide health information pertinent to investigation of health, development, and cistron-surround interactions.
    • Environmental exposure data is broadly defined and may include factors such as air, water, soil, diet, racket, and psychosocial factors, i.e., family unit dynamics, community, and cultural influences.
  • To create a repository of samples and linked databases to exist used for current and hereafter studies.
    A kinesthesia Scientific Review Commission (discussed further under Safety monitoring and Data monitoring and privacy volition monitor requests for utilize of banked data and samples and ensure field of study protection and use consistent with the original consent of participants. Any other studies that would contribute participants or information for combined analyses would be required to accept their own IRB and other regulatory approvals.
  • To link the children and participating family members through the Utah Population Information Base (UPDB) to further correlate with medical history, family history, and geographical history information of participants to heighten the ability to achieve the forgoing aims.
  • Perform an analysis of familial relationships betwixt the enrolled participants. Pedigree and Population Resource (PPR) will summate pairwise coefficients of kinship and other measures of familiality from the UPDB pedigree data to provide information nigh the degree of relationship between enrolled participants.  It is of import to decide if enrolled participants are related to each other and to provide an estimate of the probability they share genes inherited from a common founder.  Close relatives are also more than likely to share a common surround than more distant relatives; thus, assessing familial relationships between individuals in a pedigree may help determine if a phenotype of interest occurs in a family unit more than frequently than expected by take a chance due to genetics and/or environmental influences.
  • Acquit a spatial analysis of the geographic/residential locations of enrolled participants utilizing our own location identifiers.

  • A key component of the environment that we are merely showtime to understand is the normal leaner and other microorganisms that live on our peel, in our gut, and other parts of our bodies. These microorganisms are called "the microbiome" and help keep us healthy. One focus of the Utah Children'due south Project volition be to report the microbiome.

  • The Utah Children's Project is fully participating in a national consortium of children'southward studies called Environmental influences in Child Wellness Outcomes (Echo). ECHO is funded by the National Institutes of Wellness. Participation in Echo helps u.s. work with other researchers and participants in other locations to achieve the same goals equally the Utah Children's Project.

Inclusion Criteria

Subjects will exist included in the project if they see all of the post-obit criteria:

  • Proband child is less than 18 years of age (prior to 18th birthday) at the time of enrollment.
  • Willingness of at the to the lowest degree one responsible parent or guardian to participate and give consent for the proband to participate in this project.
  • For proband children anile vii years of age and older, willingness of the proband to provide assent to participate in this project
  • Ability and willingness of the proband and at to the lowest degree one biological parent to consummate the baseline medical history, family history, exam, and biological sample drove (blood, saliva, urine, and hair). This includes ability to travel to the study visit center (with travel costs reimbursed).
  • Willingness to be contacted approximately yearly for medical and environmental history updates
  • Willingness to consent to long-term storage and time to come assay of DNA and other biological and environmental samples for futurity analysis in relation to health and development outcomes
  • Grandparents volition also exist enrolled with the proband kid, based on availability, willingness, and feasibility.  Consent and other enrollment materials will be submitted to the IRB past Subpoena for approval prior to enrollment activities for grandparents.
  • Additional biological family members (other parent, siblings, half-siblings) may besides be enrolled with the proband child, based on availability, willingness, and feasibility.
  • If someone enrolled every bit a kid in the study has a child themselves;  If nosotros are recruiting at that time the child of the study participant may be eligible for the written report but would not be automatically enrolled.  Enrollment would crave the same procedures as followed for whatsoever other child.
  • Couples trying to become significant or pregnant women who take not notwithstanding given birth and biological fathers may too exist enrolled, in which example the proband is considered the fetus prior to birth and the newborn at the time of nascence.  Ability and willingness to complete visits at domicile, dispensary, and/or hospital.
  • Preconception study arm:  Couples who are planning pregnancy; women and men anile 18-49; current participants in the Utah Children'south Project or volunteers from the community; and male partners are required to participate.
  • Pregnancy study arm:  Women who are 1-28 weeks meaning, women aged 18 and older; current participants in the Utah Children's Projection, or have participated in the Preconception written report arm; and male biological fathers of fetus may participate but are not required.
  • Currently enrolled UCP participant who provide informed consent/assent, as appropriate, are eligible for inclusion into the Echo-broad Data Protocol.

RGE recruitment

  • Recruitment through RGE will exist through using Utah Land birth certificate data using the post-obit inclusion criteria:
  • Dates: Nascency Certificate data with births occurring January 1, 2012 – Dec 31, 2018 equally they become bachelor through the UPDB
  • Gender:  Male and Female births eligible
  • Race:  All Races Eligible, selected based on Utah population distributions
  • Ethnicity:  All Ethnicities Eligible, selected based on Utah population distributions, possible oversampling of Hispanic minority
  • Linguistic communication:  English or Spanish speaking
  • Location: current residential address in Salt Lake county and Enshroud counties; with possible addition of Davis, Weber, Morgan, and Utah Counties. RGE recruitment volition merely identify and select individuals with addresses within Utah state.  RGE information will not be used for out of country recruitment.

Exclusion Criteria

Subjects will be excluded from the projection if they meet whatsoever of the post-obit criteria:

  • Unwillingness of the proband and at least one parent to complete family unit and personal health history, examination, or allow storage or genetic testing of samples.
  • Proband is adopted, without full contact with at least one biological parent to be able to obtain family unit history data.
  • Relatives other than human relationship of parent, sibling, half-sibling, or grandparent will not be enrolled with the proband.

Preconception Study Arm:

Fewer than 9 menstrual flows in the previous 12 months (unless due to breastfeeding, employ of an IUD or pregnancy with a subsequent return to normal period); utilise of injectable or implantable hormonal contraception in the previous two months (or use of Depo Provera in the concluding 12 months); women and men previously diagnosed with infertility, subfertility, or a status that might reduce their fertility, such equally having undergone cervical or infertility treatment, having been diagnosed with Polycystic ovary syndrome or endometriosis without handling to restore fertility, diagnosis of low sperm count or poor sperm movement; or women and men unable to conceive a child later on a year or more than of regular unprotected sexual intercourse.

Pregnancy Study Arm:  >28 weeks gestation.

All volunteers will be assured that they have the correct to pass up or withdraw without prejudice towards them, their health care, and their status as patient, student, or employee.

A UCP child participant who becomes pregnant is ineligible for the PPO report.