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-awards

CHARM

Cancer Health Assessments Reaching Many
Kaiser Permanente Northwest: Katrina Goddard, PhD and Ben Wilfond, MD

The 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.

KidsCanSeq

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, PhD

The 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.

NCGENES 2

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, PhD

NCGENES 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, MD

NYCKidSeq seeks to advance use of genomic medicine for underserved NYC children and assess improved management of childhood disease.

P3EGS

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, PhD

The 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, PhD

In “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.

NHGRI Intramural

ClinSeq A2

NHGRI Intramural Project: Leslie Biesecker

The ClinSeq project is conducting genetic sequencing amongst healthy volunteers in order to study the impact of returning their individual genetic results and to build a resource for genotype-drive research.

CSER1

CSER1

Clinical Sequencing Exploratory Research

The precursor to the current CSER consortium was the Clinical Sequencing Exploratory Research (CSER1) Consortium, a national multi-site research program funded jointly by the National Human Genome Research Institute (NHGRI) and National Cancer Institute (NCI), which conducted multidimensional, translational research to evaluate the integration of genome and exome sequencing into clinical care.