VIGOR: Virtual Genome Center for Infant Health

Description

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.

Conditions

Genetics Disease, Genetics/Birth Defects, Genetic Predisposition to Disease

Study Overview

Study Details

Study overview

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.

VIGOR: Virtual Genome Center for Infant Health

VIGOR: Virtual Genome Center for Infant Health

Condition
Genetics Disease
Intervention / Treatment

-

Contacts and Locations

Mobile

USA Children's and Women's Hospital, Mobile, Alabama, United States, 36604

Miami

Holtz Children's Hospital at Jackson Memorial Medical Center, Miami, Florida, United States, 33136

Boston

Boston Medical Center, Boston, Massachusetts, United States, 02118

Springfield

Baystate Medical Center, Springfield, Massachusetts, United States, 01199

Worcester

UMass Memorial Hospital, Worcester, Massachusetts, United States, 01605

Camden

Cooper University Hospital, Camden, New Jersey, United States, 08103

Edinburg

The Women's Hospital at Renaissance, Edinburg, Texas, United States, 78539

El Paso

The Hospitals of Providence, El Paso, Texas, United States, 79938

Galveston

University of Texas Medical Branch, Galveston, Texas, United States, 77555

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility 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.
  • * 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.

Ages Eligible for Study

0 Days to 99 Years

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

Boston Children's Hospital,

Timothy Yu, MD, PhD, PRINCIPAL_INVESTIGATOR, Boston Children's Hospital

Study Record Dates

2027-03-01