Projects

CSER represents a diverse collection of projects seeking to study the effectiveness of integrating genome sequencing into the clinical care of diverse and medically underserved individuals. Collectively, CSER aims to develop and share best practices in areas such as return of results, health outcomes and metrics, healthcare utilization, and the ethical, legal, and social implications of sequencing in diverse populations.

U-awardsNHGRI IntramuralCSER1

Cancer Health Assessments Reaching Many

Kaiser Permanente Northwest: Katrina Goddard, PhD and Ben Wilfond, MDThe CHARM (Cancer Health Assessment Reaching Many) study will assess the utility of clinical exome sequencing and how it affects care in diverse populations. Our study population includes adults at risk for hereditary cancer syndromes.

Evaluating Utility And Improving Implementation Of Genomic Sequencing For Pediatric Cancer Patients In The Diverse Population And Healthcare Settings Of Texas: The KidsCanSeq Study

Baylor College of Medicine, Houston: Sharon Plon, MD, PhD; Will Parsons, MD, PhD; and Amy McGuire, PhDThe Baylor College of Medicine Texas KidsCanSeq Study aims to assess the utility of genome-scale testing, compared with more targeted methods, in diverse pediatric cancer patient populations and diverse healthcare settings in Texas.

North Carolina Clinical Genomic Evaluation by Next-generation Exome Sequencing 2

University of North Carolina, Chapel Hill: Jonathan Berg, MD, PhD; Bradford Powell, MD, PhD; and Christine Rini, PhDNCGENES 2 will generate evidence regarding the clinical utility of genomic sequencing using a prospective randomized controlled trial comparing exome sequencing to usual care and investigating the use of pre-visit preparation to improve patient-centered outcomes.

NYCKidSeq

Icahn School of Medicine at Mt Sinai, Eimear Kenny, PhD; Melissa Wasserstein, MD; Carol Horowitz, MD; Bruce Gelb, MDNYCKidSeq seeks to advance use of genomic medicine for underserved NYC children and assess improved management of childhood disease.

Prenatal and Pediatric Genome Sequencing

University of California, San Francisco: Pui-Yan Kwok, MD, Ph.D; Mary Norton, MD; Barbara Koenig, PhD; Anne Slavotinek, MD, PhD; Neil Risch, PhDThe UCSF Program in Prenatal and Pediatric Genome Sequencing (P3EGS) will study the utility of whole exome sequencing as a tool for 1) diagnosing infants and children with serious developmental disorders, and, 2) providing genetic information to parents when a prenatal study reveals a fetus with a structural anomaly.

SouthSeq

HudsonAlpha: Greg Cooper, PhD, Greg Barsh, PhD, Bruce Korf, PhDIn "SouthSeq", we will perform whole-genome sequencing on newborns suspected to have genetic disorders and develop and test return of results mechanisms to expand access to genetic testing to diverse, especially historically underserved, communities.