. 2016 May 12;98(6):1051–1066. doi: 10.1016/j.ajhg.2016.04.011

Table 3.

Cross-Consortium Collaborative Working Groups

Group Name	Project Goal	Significant Findings	Working-Group References
Actionability and Return of Results (Act-ROR)	defining the principles and processes guiding the definition of “actionable gene” across the consortium, including outcomes and discrepancies; developing variant-classification consensus; developing best practices for analysis and communication of genomic results	defining an “actionable” gene by developing consensus regarding variant classification and developing decision support resources around actionability; developing guidance for classification of secondary findings	Amendola et al.,^⁹ Berg et al.,^¹⁰ Jarvik et al.^¹¹
Electronic Health Records	understanding and facilitating collaboration related to the integration of genomic information into the EHR, decision support, and linkage to variant and knowledge databases	understanding and facilitating cross-site collaboration, EHR integration, decision support, and database linkage; analyzing the current state of the EHR among six CSER sites, as well as presenting genetic data within the EHR among eight sites; ascertaining current display of genetic information in EHRs; defining priorities for improvement	Shirts et al.,^¹² Tarczy-Hornoch et al.^¹³
Genetic Counseling	investigating current genetic-counseling topics related to whole-exome and -genome sequencing, including but not limited to recruitment and enrollment, obtaining informed consent, returning sequencing results, and interacting with participants and families in both research and clinical settings	analyzing CGES topics related to genetic counseling, including informed-consent best practices and lessons learned from returning results	Tomlinson et al.,^¹⁴ Bernhardt et al.,^¹⁵ Amendola et al.^¹⁶
Informed Consent and Governance	discussing emerging issues and developing new and creative approaches related to informed consent in the sequencing context; developing standardized consent language; analyzing experience with institutional governance of genomic data	analyzing CSER approaches to informed consent for the return of genomic research data; supporting the development of new and creative approaches to consent, including best practices and standardized language and protocols; compiling CSER experiences with institutional governance of genomic data	Henderson et al.,^¹⁷ Appelbaum et al.,^¹⁸ Koenig^¹⁹
Outcomes and Measures	identifying priority areas for investigating psychosocial, behavioral, and economic outcomes related to genome sequencing; coordinating measurement of key outcomes across CSER sites; identifying research strategies to generate evidence to inform health-care policies	examining participant outcomes to inform conversations regarding the efficacy and harms of sequencing, as well as the costs and impacts of genomic sequencing on the health-care system	Gray et al.^²⁰
Practitioner Education	exploring the growing need for medical genetics education materials for health-care practitioners	newly formed workgroup aimed at exploring the unique educational needs of health-care providers; currently compiling and assessing available resources and looking for gaps and avenues for using expertise and shared experiences within CSER to aid in practitioner genomic education and application	–
Pediatrics	exploring and attempting to develop standardized approaches to address the unique ethical, legal, and practical challenges related to returning results in studies involving pediatric populations	deeply analyzing the issues related to childhood genomic sequencing, including comparing current guidelines and examining ethical responsibilities and recommendations for a future framework for genomic sequencing in children	Clayton et al.,^²¹ Brothers et al.^²² McCullough et al.^²³
Sequencing Standards	developing and sharing technical standards for sequencing in the clinical context; developing best practices for genomic sequencing and variant validation	analyzing clinically relevant genomic regions that are poorly covered in CGES across ten CSER sites to learn more about target areas for future improvement; developing tools and processes to allow standardized analyses of poorly covered regions at other clinical sequencing centers	–
Tumor	exploring the unique technical, interpretive, and ethical challenges involved in sequencing somatic cancer genomes	educating the oncology community regarding the spectrum of potential tumor sequencing results, as well as secondary findings from germline sequencing and revelations of true germline findings from tumor sequencing	Parsons et al.,^²⁴ Raymond et al.^²⁵