|Principal Investigator: Joseph Stanford|
|Keywords: Genetics , Family , National Children's Study , Utah , Health||Department: Family And Preventive Medicine|
|IRB Number: 00063183|
|Specialty: Family Medicine|
|Sub Specialties: Occupational and Environmental Health|
|Recruitment Status: Active, not recruiting|
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 will be used by University of Utah and Primary Children’s Hospital (PCH) investigators to further investigate the role of genetics and the environment in various disease processes or as determinants of health. Investigations will include next generation genotype and gene 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 project 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, gene expression, and environmental 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 future, of the proband child to allow for more robust investigation of the impact of specific genes or exposures on different health conditions or developmental outcomes
- a cohort 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 cohort under a separate study protocol.
- To obtain biological specimens and environmental exposure data from each participant to provide health information pertinent to investigation of health, development, and gene-environment interactions.
- Environmental exposure data is broadly defined and may include factors such as air, water, soil, diet, noise, and psychosocial factors, i.e., family dynamics, community, and cultural influences.
- To create a repository of samples and linked databases to be used for current and future studies.
A faculty Scientific Review Committee (discussed further under Safety monitoring and Data monitoring and privacy will monitor requests for use of banked data and samples and ensure subject protection and use consistent with the original consent of participants. Any other studies that would contribute participants or data for combined analyses would be required to have their own IRB and other regulatory approvals.
- To link the children and participating family members through the Utah Population Data Base (UPDB) to further correlate with medical history, family history, and geographical history data of participants to enhance the ability to achieve the forgoing aims.
- Perform an analysis of familial relationships between the enrolled participants. Pedigree and Population Resource (PPR) will calculate pairwise coefficients of kinship and other measures of familiality from the UPDB pedigree data to provide information about the degree of relationship between enrolled participants. It is important to determine 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 likely to share a common environment 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 more often than expected by chance due to genetics and/or environmental influences.
- Conduct 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 just beginning to understand is the normal bacteria and other microorganisms that live on our skin, 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’s Project will be to study the microbiome.
The Utah Children’s Project is fully participating in a national consortium of children’s studies called Environmental influences in Child Health Outcomes (ECHO). ECHO is funded by the National Institutes of Health. Participation in ECHO helps us work with other researchers and participants in other locations to achieve the same goals as the Utah Children’s Project.
Subjects will be included in the project if they meet all of the following criteria:
- Proband child is less than 18 years of age (prior to 18th birthday) at the time of enrollment.
- Willingness of at the least one responsible parent or guardian to participate and give consent for the proband to participate in this project.
- For proband children aged 7 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 least one biological parent to complete the baseline medical history, family history, examination, and biological sample collection (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 future analysis of DNA and other biological and environmental samples for future analysis in relation to health and development outcomes
- Grandparents will also be enrolled with the proband child, based on availability, willingness, and feasibility. Consent and other enrollment materials will be submitted to the IRB by Amendment for approval prior to enrollment activities for grandparents.
- Additional biological family members (other parent, siblings, half-siblings) may also be enrolled with the proband child, based on availability, willingness, and feasibility.
- If someone enrolled as a child in the study has a child themselves; If we are recruiting at that time the child of the study participant may be eligible for the study but would not be automatically enrolled. Enrollment would require the same procedures as followed for any other child.
- Couples trying to become pregnant or pregnant women who have not yet given birth and biological fathers may also be enrolled, in which case the proband is considered the fetus prior to birth and the newborn at the time of birth. Ability and willingness to complete visits at home, clinic, and/or hospital.
- Preconception study arm: Couples who are planning pregnancy; women and men aged 18-49; current participants in the Utah Children's Project or volunteers from the community; and male partners are required to participate.
- Pregnancy study arm: Women who are 1-28 weeks pregnant, women aged 18 and older; current participants in the Utah Children's Project, or have participated in the Preconception study 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-wide Data Protocol.
- Recruitment through RGE will be through using Utah State birth certificate data using the following inclusion criteria:
- Dates: Birth Certificate data with births occurring Jan 1, 2012 – Dec 31, 2018 as they become available 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
- Language: English or Spanish speaking
- Location: current residential address in Salt Lake county and Cache counties; with possible addition of Davis, Weber, Morgan, and Utah Counties. RGE recruitment will only identify and select individuals with addresses within Utah state. RGE data will not be used for out of state recruitment.
Subjects will be excluded from the project if they meet any of the following criteria:
- Unwillingness of the proband and at least one parent to complete family 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 history information.
- Relatives other than 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, use of an IUD or pregnancy with a subsequent return to normal menses); use of injectable or implantable hormonal contraception in the previous 2 months (or use of Depo Provera in the last 12 months); women and men previously diagnosed with infertility, subfertility, or a condition that might reduce their fertility, such as having undergone cervical or infertility treatment, having been diagnosed with Polycystic ovary syndrome or endometriosis without treatment to restore fertility, diagnosis of low sperm count or poor sperm movement; or women and men unable to conceive a child after a year or more of regular unprotected sexual intercourse.
Pregnancy Study Arm: >28 weeks gestation.
All volunteers will be assured that they have the right to refuse 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 study.