Development of the Technology and Methodology for Generation of the Genetic Passport (Genetic Health Record) of Newborn and Application Thereof to Estimate the Mid and Low Penetrance Hereditary Disorders Frequencies in Russian Population and to Uncover Genetic Factors Determining Severe Monogenic Conditions
试验速览
- 阶段
- 不适用
- 发起方
- 入组人数
- 7,000
- 试验地点
- 1
- 主要终点
- Phenotype-associated variants
研究概览
简要总结
The aim of the study is to obtain the initial experience of the inclusive genetic screening of newborn.
Two groups of newborns born in RCOGP will be enlisted to the study:
- newborns without developmental features having no variations according to an inherited diseases screening;
- newborns showing either phenotypic features or deviations according to MS screening.
The residual volume of the cord blood of all newborns form both groups will be collected and subjected to the whole exome sequencing. The sequencing data will be analyzed in "screening" mode for the first group while for the second group analysis will be performed taking the respective phenotype into account.
The study is planned to cover 7000 newborns in total.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Cross Sectional
入排标准
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Infants born in the RCOGP, showing no development features and with no inherited diseases revealed by common screening
- •Informed consent signed by a newborn's representative
排除标准
- •Parents refuse to participate
- •Parent(s) younger 18 years
- •Parent(s) unable to make decisions
- •The infant is older 30 d
- •Blood cannot be collected from the infant
- •Group 2 (newborns with phenotypic features)
- •Inclusion Criteria:
- •Infants showing either phenotypic features or deviations according to MS screening
- •Informed consent signed by a newborn's representative
- •Exclusion Criteria:
- •Parents refuse to participate
- •Parent(s) younger 18 years
- •Parent(s) unable to make decisions
- •Blood cannot be collected from the infant
- •Detailed description of the phenotype is not available
- •The infant's exome has been already sequenced
结局指标
主要结局
Phenotype-associated variants
时间窗: 2 weeks - 2 months
Pathogenic, likely pathogenic variants or variants of uncertain significance corresponding to the observed clinical conditions
Motivations for refuse to participate
时间窗: 1 day
Questionnaire answers provided by families refused to enroll
Estimate the frequency of revealing patients carrying genotype associated with a monogenic disese.
时间窗: 3-5 months
The manifestation of pathogenic or likely pathogenic variants leading to a monogenic disease presenting during early age. A genotype is considered having risk of developping a monogenic disease in case pathogenic or probably pathogenic variants are detected corresponding to the inheritance model.
Acceptance of advanced screening
时间窗: 1 day
Questionnaire answers provided by families accepted screening for variants of low penetrance, no care available etc.
次要结局
- Oncological risk(1 day)
- Cardiological risk(1 day)
- Recessive carriers(1 day)