About this trial
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.
Eligibility criteria
Qualifiers
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.
Disqualifiers
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;
Trial design
Treatments tested in this trial
- Not listed
Trial groups
Sponsors and collaborators
Boston Children's Hospital
Lead sponsor
Boston Medical Center
Collaborator
Baystate Medical Center
Collaborator
UMass Memorial Health
Collaborator
The Cooper Health System
Collaborator
National Human Genome Research Institute (NHGRI)
Collaborator
DHR Health Institute for Research and Development
Collaborator
The Hospitals of Providence East Campus
Collaborator
The Hospitals of Providence Memorial Campus
Collaborator
Jackson Health System
Collaborator
University of Texas
Collaborator
Driscoll Children's Hospital
Collaborator
University of South Alabama
Collaborator