VIGOR: Virtual Genome Center for Infant Health

Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age0-99
SponsorBoston Children's Hospital

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

750 Participants
are grouped into 2 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