VIGOR: Virtual Genome Center for Infant Health
Boston Children's Hospital
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.
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 wi…
Eligibility
- Age range
- 0–99 years
- Sex
- All
- Healthy volunteers
- No
Inclusion Criteria: * 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. Exclusion Criteria: * Presence of a likely nongenetic explanation for the phenotype (e.g., per…
Locations (10)
- USA Children's and Women's HospitalMobile, Alabama
- Holtz Children's Hospital at Jackson Memorial Medical CenterMiami, Florida
- Boston Medical CenterBoston, Massachusetts
- Baystate Medical CenterSpringfield, Massachusetts
- UMass Memorial HospitalWorcester, Massachusetts
- Cooper University HospitalCamden, New Jersey