Rare genetic conditions Genetic Diseases
Conditions
Interventions
This is a quantitative, longitudinal birth cohort study in which newborn babies and their birthing parents will be recruited. The study aims to gather data relevant to both the pregnancy (at one timep
Sponsors
Genomics England
Eligibility
Sex/Gender
All
Age
16 Years to 120 Years
Inclusion criteria
Inclusion criteria: Current participant inclusion criteria as of 05/12/2023: 1. Mother / birthing parent over the age of 16 years 2. Mother / birthing parent must have parental responsibility for the baby 3. Singleton birth For those with complicated births or early postnatal periods, for example where admission to NICU is necessary, final sampling decision will be made on a case-by-case basis at the discretion of the research staff and with the NHS clinical team. _____ Previous participant inclusion criteria as of 07/11/2023 to 05/12/2023: 1. Mother / birthing parent aged 16 and over 2. Mother / birthing parent must have parental responsibility for the baby 3. Singleton birth 4. Babies born after 36 weeks, for whom a cord blood sample can be obtained* 5. Babies born at home are included if an individual with legal parental responsibility is willing to bring the baby back to the study site for sample collection *For those with complicated births or early postnatal periods, for example where admission to NICU is necessary, final sampling decision will be made on a case-by-case basis with input from the NHS clinical team. _____ Previous participant inclusion criteria: 1. Mother / birthing parent over the age of 16 2. Mother / birthing parent must have parental responsibility for the baby 3. Singleton birth 4. Babies born after 36 weeks, for whom a cord blood sample can be obtained* 5. Babies born at home are included if an individual with legal parental responsibility is willing to bring the baby back to the study site for sample collection *For those with complicated births or early postnatal periods, for example where admission to NICU is necessary, final sampling decision will be made on a case-by-case basis with input from the NHS clinical team.
Exclusion criteria
Exclusion criteria: Current participant exclusion criteria as of 05/12/2023: 1. Mother / birthing parent under 16 2. Mother / birthing parent who will not have parental responsibility for the baby (Babies who are being adopted) 3. Mother / birthing parent lacking the capacity to provide informed consent for any reason 4. Mother / birthing parent who does not give birth in one of the recruiting hospitals 5. Mother / birthing parent who does not have an NHS number 6. Mother / birthing parent who is serving time in prison _____ Previous participant exclusion criteria: 1. Mother / birthing parent under 16 2. Mother / birthing parent who will not have parental responsibility for the baby (Babies who are being adopted) 3. Mother / birthing parent who does not have a fixed UK address where they reside (prisoners, people in long-term care, people requiring refuge, people of no fixed abode) 4. Mother / birthing parent lacking the capacity to provide informed consent for any reason 5. Mother / birthing parent who does not give birth in one of the recruiting hospitals 6. Mother / birthing parent who does not have an NHS number
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Clinical utility of genomic newborn screening measured using the number of screen-identified diagnoses likely to benefit from the intervention compared to the standard of care alone. The primary outcome measure will have two timepoints as follows: 1. Firstly in Spring / Summer 2024, or if recruitment is slower than expected, following recruitment of 20,000 babies 2. Secondly at the end of 2025, or if recruitment is slower than expected, 6 months after recruitment of the 100,000th baby. The 6-month time lag is essential due to the length of time taken for babies to receive a diagnostic outcome following a screen-positive result. Given that some babies will still not have a confirmed diagnosis at that point, the intention is to continue intermittent monitoring over a longer time period. | — |
Secondary
| Measure | Time frame |
|---|---|
| 1. Feasibility of genomic newborn screening in the NHS measured using mixed-method approaches to assess study implementation during the study including: 1.1. Primary and secondary DNA sample collection rate by NHS trust and site by date 1.2. Sample collection failure rate by sample type 1.3. Sample processing failure rate by sample type and stage at failure 1.4. Sample processing and transport time for the end-to-end journey, from sample collection to notification of the treating clinician or delivery of a ‘no findings’ letter 1.5. The time taken from notification of treating clinician to the confirmation of diagnosis / ruling out a diagnosis 1.6. Interviews and focus groups with midwives will capture data on their experience of consent, sample taking and reasons for sample collection failure 2. Acceptability of genomic newborn screening in the NHS measured using mixed-method approaches to assess study implementation during the study including: 2.1. The number of parents approached regarding participation in the study by NHS trust and site by date 2.2. The number of participants consented by NHS trust and site by date 2.3. Consent rates by demographic factors collected during consent including ethnicity, age and socio-economic deprivation. 2.4. Numbers of parents that are referred for enrolment but fail on exclusion criteria and reasons why 2.5. Numbers of parents that change their mind during enrolment and where possible reasons why 2.6. Study withdrawal rates and where possible reasons why 2.7. Interviews and focus groups with midwives will capture data on reasons for participants choosing not to participate in the study 3. Cost-effectiveness of genomic newborn screening compared to standard of care alone, supported by a health economic model developed to support the programme and monitoring the true downstream cost implications of the additional / fewer healthcare encounters that result from WGS, including: 3.1. Costs associated with A&E attendances, outpatien | — |
Countries
England, United Kingdom
Outcome results
None listed