VIGOR: Virtual Genome Center for Infant Health
- Conditions
- Genetics DiseaseGenetics/Birth DefectsGenetic Predisposition to Disease
- Registration Number
- NCT05205356
- Lead Sponsor
- Boston Children's Hospital
- Brief Summary
This study will provide rigorous evaluation of implementing a virtual genome center into community clinical settings without highly specialized resources, thereby offering generalizable insights as to how best to implement genomic medicine at scale and for other age groups. This intervention has great potential to address disparities in genomic medicine among low-income and underrepresented minority (URM) populations and will enhance capacity for providers and health systems to utilize highly specialized genomic techniques in their communities.
The goal of this study is to achieve equitable access to state-of-the-art genomic medical care to sick newborns in community centers that predominately care for low-income and racial/ethnic minority populations through the creation of a virtual genome center (VIGOR). VIGOR will provide a venue for physician and family education, genomic expert consultation, reanalysis of unsolved sequencing data, and access to cutting edge therapeutic innovation, thereby facilitating institutionalization of genomic best practices in community settings, and not just highly specialized referral centers.
- Detailed Description
Genomic medicine has rapidly advanced in the past decade enabling earlier diagnosis and personalized treatment. However, only a few highly specialized centers in the US have the resources to take advantage of these advances in patient care. This has created a large health equity gap whereby patients cared for in typical community settings, often low-income and/or representing racial/ethnic minorities, do not receive equitable medical care. Another barrier to the wider utilization of genomic medicine is the poor dissemination of knowledge among clinicians, especially in community settings. A wide gap exists in the implementation of genomic medicine from diagnosis to personalized therapies, a field experiencing huge advances but still subject to wide disparities in accessibility. This study aims to develop and test the implementation of a strategy to break down these barriers to genomic medicine. The target population is sick newborns admitted to the NICU that present with probable genetic conditions. This study proposes a novel center, VIrtual GenOme CenteR (VIGOR). VIGOR will be a center that can remotely support clinicians and families working in community NICUs.
This study will provide rigorous evaluation of implementing a virtual genome center at community clinical settings without highly specialized resources, thereby offering generalizable insights as to how best to implement genomic medicine at scale and for other age groups. This intervention has great potential to address disparities in genomic medicine among low-income and underrepresented minorities (URM) populations and will enhance capacity for providers and health systems to utilize highly specialized genomic techniques in their communities.
The goal of this study is to achieve equitable access to state-of-the-art genomic medical care to sick newborns in community centers that predominately care for low-income and racial/ethnic minority populations through the creation of a virtual genome center (VIGOR). VIGOR will provide a venue for physician and family education, genomic expert consultation, reanalysis of unsolved sequencing data, and access to cutting edge therapeutic innovation, thereby facilitating institutionalization of genomic best practices in community settings, and not just highly specialized referral centers.
Recruitment & Eligibility
- Status
- RECRUITING
- Sex
- All
- Target Recruitment
- 750
- Newborns presenting with probable genetic conditions inpatient on the NICU. These may include (but is not limited to) those with unexplained hypotonia, seizures, metabolic disorders, disorders of sex development, interstitial lung disease, immunodeficiency or multiple congenital anomalies.
- Babies must have at least one biologic parent available for consent and participation.
- The criteria for inclusion are 100% phenotype based and do not include any demographic parameters.
- Presence of a likely nongenetic explanation for the phenotype (e.g., perinatal asphyxia explained by uterine rupture or placental pathology;
- Clinical features pathognomonic for a recognizable chromosomal abnormality, such as trisomy 21;
- Associations already known to have low genetic diagnostic yield, including VATER/VACTERL association and OEIS complex;
- Infants who die before enrollment;
- Known family history of genetic disease that is plausibly the cause of the infant's illness; - Those with a prenatal genetic diagnosis.
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Implementation of VIGOR 4 year Penetration of VIGOR measured by percentage of eligible participants who were enrolled, tested, providers received CIR and completed a disclosure session.
- Secondary Outcome Measures
Name Time Method Implementation of VIGOR 4 year Feasibility of VIGOR measured at the provider level by conducting focus groups/interviews.
Service Outcomes 4 years Equity in penetration of VIGOR use by race/ethnicity, insurance status and primary language measured at the participant level by conducting chart reviews and surveys.
Client Outcomes 4 years Satisfaction measured at the infant/caregiver and provider level by conducting surveys, chart reviews and focus groups/interviews.
Trial Locations
- Locations (9)
Holtz Children's Hospital at Jackson Memorial Medical Center
🇺🇸Miami, Florida, United States
Boston Medical Center
🇺🇸Boston, Massachusetts, United States
University of Texas Medical Branch
🇺🇸Galveston, Texas, United States
The Hospitals of Providence
🇺🇸El Paso, Texas, United States
UMass Memorial Hospital
🇺🇸Worcester, Massachusetts, United States
Cooper University Hospital
🇺🇸Camden, New Jersey, United States
Baystate Medical Center
🇺🇸Springfield, Massachusetts, United States
USA Children's and Women's Hospital
🇺🇸Mobile, Alabama, United States
The Women's Hospital at Renaissance
🇺🇸Edinburg, Texas, United States