Table 1.

CSER Consortium studies with a usual care (UC) arm

CSER Study	Study Aim (related to genetic counseling)	UC Content	UC Delivery
CHARM	Compare UC genetic counseling and a modified literacy-focused genetic counseling approach for adults at risk of hereditary cancer during disclosure of clinical exome sequencing results for hereditary cancer and secondary results. Counselors in the literacy-focused arm received in-depth training and ongoing support to use evidence-based techniques for effective communication with individuals of limited health literacy (e.g. plain language and teach back; Riddle; 2020); Outcomes include understanding of recommended care, satisfaction with visit, perception of communication, and extent of family communication.	UC defined as the absence of exposure to a GC training intervention on literacy-focused communication. UC included: • Contracting—introduction, establish purpose of call, set expectations for flow of discussion and length of call, review why patient was eligible for the test; • Family history—obtain 3 generation pedigree; • Education—provide background info on genes/inheritance/genetic testing; • Disclosure—disclose results, describe condition caused by gene change (if applicable), review medical management recommendations, create follow-up plan for referrals, outline implications for family members, discuss cascade screening; • Conclusion—review plan, remind patient that results will go into EMR/a summary letter.	Delivered by telephone by a certified genetic counselor.
NYCKidsSeq	Compare traditional (usual care) genetic counseling and genetic counseling using a novel web-based communication tool, GUÍA (Genomic, Understanding, Information & Awareness application), to facilitate the delivery of genomic test results and medical management recommendations to parents of children with suspected neurologic, immunologic and cardiac genetic disorders. The study is investigating the impact of using GUÍA to enhance genetic counseling on participant outcomes (e.g., parental understanding, satisfaction, feelings about the results, and their subsequent behavior).	UC not defined and reflects clinical practice as conducted by the individual GCs, including: • Contracting • Review of pre-test counseling (test ordered, purpose of testing, possible result types); • Disclosure of primary results, including describing the condition, the natural history, inheritance, recurrence risk, impact on family members, treatment and management guidelines; • Disclosure of secondary findings, and targeted counseling as described for primary results disclosure; • Discuss next steps including referrals, medical management, sharing results with PCP and referring provider; Providing resources (e.g., support groups); Psychosocial counseling and support; • Discuss how patients’ genomic data may be used throughout the study.	Delivered in-person by a certified genetic counselor.
SouthSeq	Compare genome sequencing results returned to parents of infants in the NICU with suspected genetic disorders by genetic counselors or trained non-genetics providers. Study genetic counselors developed and delivered training for NICU non-genetics providers on genome result disclosure based on personal experience disclosing genome results and the NSGC Practice Based Competencies (PBCs). The non-inferiority trial is using parental empowerment as the primary outcome.	UC not defined; assumed GCs would practice within their published scope and competencies. Included: • Contracting: introduction, review purpose of interaction and why infant was enrolled in the study; • Disclosure: primary results (positive, uncertain, negative), secondary results, risk assessment, psychosocial assessment; • Education: explain relevant genetic concepts, context of results, and inheritance; • Conclusion: Recommend next steps, provide support resources. UC arm offers in-depth discussion of genetics concepts; expanded range of genetic counseling skills and models to facilitate adaptation to genetic risks and conditions.	Delivered in-person when possible, or via phone and/or video. Delivered by a certified genetic counselor.
NCGENES	Compare UC in the pediatric genetics or pediatric neurology clinic with UC plus receipt of caregiver “pre-visit prep” materials on measures of caregiver-clinician engagement and caregiver efficacy. Intervention arm receives an educational booklet and question prompt list (QPL) prior to first appointment with pediatric genetics or pediatric neurology and another booklet and QPL prior to return of results. Materials are developed by a multidisciplinary team including parent and family advocates and genetic counselors. Outcomes include caregiver/family engagement, clinicians’ perception of family preparedness and engagement, and caregivers’ reported self-efficacy, satisfaction, and perception of the appointment’s patient-centeredness.	UC not defined, but assumed to be the customary care provided by the pediatric and neurology provider teams guided by their clinic leadership and within their scope of practice. This included MDs and GCs (genetics) and MDs (neurology). Content at discretion of providers and followed UC for the clinic.	Pre-test: Delivered in person by GC or research associate. Post-test: Delivered according to clinicians’ usual practice. For neurology clinic may be in person or telephone by a neurologist. For genetics clinic, typically by phone with occasional in person disclosure by GC or geneticist.