Table 1:

CSER Project Descriptions. Each CSER site is unique with different aims, processes, enrollment locations and targeted enrollment populations.

Study Namea	Institution	Patient Enrollment Settingsb	Target Enrollment Populations (Sub-populations)b	Key Outcomes
CHARM	Kaiser Permanente Northwest	Outpatient primary care clinics from two health systems: Kaiser Permanente Northwest (Portland, Oregon), and Denver Health (a system of Federally Qualified Health Centers in Denver, Colorado)	Adults (18–49 years) at risk for hereditary cancer; (Racial/ethnic minority, low income, low health literacy, Medicaid/ Medicare or uninsured, Spanish speaking)	Assesses the utility of clinical exome sequencing and how it affects care in diverse populations of adults at risk for hereditary cancer syndromes.
ClinSeq	NIH / NHGRIc	National Institutes of Health Clinical Center (Bethesda, Maryland)	Adults, no specific phenotype; (African American, Afro-Caribbean, African)	Conducts genetic sequencing amongst healthy volunteers in order to study the impact of returning their individual genetic results and to build a resource for genotypedrive research.
KidsCanSeq	Baylor College of Medicine	Academic and non-academic medical centers, outpatient clinics in Texas: Texas Children’s Hospital, MD Anderson Cancer Center (Houston); University of Texas Health Science Center at San Antonio, Children’s Hospital of San Antonio (San Antonio); Cook Children’s (Fort Worth); Vannie Cook Children’s Clinic (McAllen)	Children with cancer and their parents; (Medically underserved, Hispanic/Latino, African American, Asian, Spanish speaking)	Studies the utility of genome-scale testing, compared with more targeted methods, in diverse pediatric cancer patient populations and diverse health care settings in Texas.
NCGENES2	University of North Carolina at Chapel Hill	Outpatient pediatric genetic and neurology clinics at academic medical centers; community hospital in North Carolina: University of North Carolina Chapel Hill (Chapel Hill), Mission Health (Asheville), East Carolina University (Greenville)	Children (< 16 years) and caregivers presenting as new patients with suspected genetic conditions (developmental disabilities, dysmorphology, neuromuscular disorders); (African American, Hispanic/Latino, Medicaid or uninsured)	Assesses the utility of clinical exome sequencing compared to standard of care testing in diverse pediatric populations presenting for initial genetic evaluation. Also assesses the impact of pre-clinic preparatory materials on measures of caregiver-provider engagement and care.
NYCKidsSeq	Icahn School of Medicine at Mount Sinai & Montefiore Medical Center	Academic medical centers, private practice in New York City, New York: The Mount Sinai Hospital, Mount Sinai Doctors Faculty Practice, Mount Sinai Kravis Children’s Hospital, Mount Sinai West Hospital (Manhattan); Montefiore Medical Center, The Children’s Hospital at Montefiore (Bronx)	Children (ages 0–21) with suspected neurologic, immunologic, and cardiac genetic conditions; (African American, Hispanic/Latino, Medicaid, Spanish-speaking)	Assesses the clinical and economic utility for use of genomic medicine for underserved children. Also assesses family understanding and satisfaction.
P3EGS	University of California, San Francisco	Academic medical center, outpatient clinics, neonatal intensive care unit in pediatric intensive care unit and community hospital in California: UCSF Benioff Children’s Hospital Mission Bay, UCSF Fetal Treatment Center, Zuckerberg San Francisco General Hospital, (San Francisco); UCSF Benioff Children’s Hospital Oakland (Oakland); Fresno Community Health Center (Fresno)	Infants and children with severe developmental disorders, with or without congenital anomalies (pediatric); parents whose fetus has a structural anomaly (prenatal); (Underserved by census tract, Medicaid, Asian, Hispanic/Latino, African American)	Assesses the utility of whole exome sequencing as a tool for diagnosing infants and children with serious developmental disorders. Also assesses providing genetic information to parents when a prenatal study reveals a fetus with a structural anomaly.
SouthSeq	HudsonAlpha Institute for Biotechnology	Academic medical center and community neonatal intensive care units, academic maternal fetal medicine outpatient clinics; Children’s Hospital of New Orleans (New Orleans, Louisiana); University of Alabama at Birmingham (Birmingham, Alabama; University of Louisville (Louisville, Kentucky; University of Mississippi Medical Center, Woman’s Hospital (Jackson, Mississippi)	Newborns with suspected genetic conditions; (African American, underserved, rural)	Performs whole-genome sequencing on newborns suspected to have genetic disorders. Assesses return of results mechanisms to expand access to genetic testing to diverse, especially historically underserved, communities.

^aAll projects have study materials (including consent forms, education materials, and surveys) available in both English and Spanish, some of which is publicly available at https://cser-consortium.org/cser-research-materials.

^bAdapted with permission from Amendola et al., 2018 ¹⁰ and Goddard et al., 2020²¹

^cClinSeq completed enrollment at the start of the extramural studies and thus did not assess stakeholder engagement-related variables as in other CSER projects.