Cindy James, PhD, SCM

Professional Titles

• Research Director, Johns Hopkins Center for Inherited Heart Diseases;
• Research Director, Johns Hopkins ARVC Program

Primary Academic Title

Associate Professor of Medicine

Background

Clinical Trials Summary

Clinical Trial of the Sequence of Cardiovascular Genetic Counseling and Testing (RESEQUENCE-GC) (NCT05422573)

Although pre-test genetic counseling is widely recommended and has come to dominate genetic counseling practice, tailored results-focused genetic counseling could both increase genetic counseling efficiency and improve genetic counseling outcomes for the growing number of patients seeking genetic testing for recommended genome-guided medical management. This study will test that hypothesis in adults referred for cardiovascular genetic counseling and testing at the Johns Hopkins Center for Inherited Heart Diseases. This study is a three-arm randomized clinical trial to evaluate two complementary approaches to shifting the primary genetic counseling session to post-test for 510 adults with two broad cardiovascular genetic counseling indications: diagnostic panel testing and family-specific variant testing. The investigators will compare usual care (pre-test genetic counseling appointment, results returned by phone / electronic health record) with online video-based pre-test tailored genetic education with an optional (efficiency arm) or required (flipped arm) phone call with a genetic counselor followed by a post-test genetic counseling appointment. The investigators hypothesize that post-test genetic counseling will: 1) increase efficiency, 2) promote patient empowerment and adherence, and 3) have similar genetic test-associated psychosocial impact.

Additional Academic Titles

Assistant Professor of Genetic Medicine

Contact for Research Inquiries

600 N. Wolfe Street
Blalock 545, ARVC Program
Baltimore, MD 21287

cjames7@jhmi.edu

Research Interests

Arrhythmogenic cardiomyopathies, Cardiovascular genetic counseling

Research Summary

My research reflects my multidisciplinary background and includes ARVC/inherited cardiomyopathies and genetic counseling/policy research. In both, my goal is high-impact research, rapidly translatable to patients. I run the Johns Hopkins ARVC Registry, am PI of the Center for Inherited Heart Diseases Registry, and am Research Director of our ARVC JHU Precision Medicine Center of Excellence.  I leverage these resources to lead investigations of: 1) individualized risk prediction for sudden cardiac death (www.arvcrisk.com), 2) the interplay of genotype and exercise on patient outcomes, and 3) the genetic architecture of ARVC.  For genetic counseling/genomics I lead studies 1) to inform consent and return of results policies of the NIH-funded Centers for Mendelian Genomics, 2) to characterize cardiovascular genetic counseling outcomes, and 3) to investigate adaptation to inherited heart diseases.

Google Scholar

https://scholar.google.com/citations?hl=en&user=CPKPGj0AAAAJ

Selected Publications

• Bosman LP, Wang W, Lie ØH, van Lint FHM, Rootwelt-Norberg C, Murray BA, Tichnell C, Cadrin-Tourigny J, van Tintelen JP, Asselbergs FW, Calkins H, Te Riele ASJM, Haugaa KH, James CA. Integrating exercise into personalized ventricular arrhythmia risk prediction in arrhythmogenic right ventricular cardiomyopathy. Circ Arrhythm Electrophysiol. 2022;15:e010221. doi: 10.1161/CIRCEP.121.010221

• James CA, Jongbloed JDH, Hershberger RE, Morales A, Judge DP, Syrris P, Pilichou K, Medeiros Domingo A, Murray B, Cadrin-Tourigny J, Deprez RL, Celeghin R, Protonotarios A, Astryan B, Brown E, Jordan E, McGlaughon J, Thaxton C, Kurtz CL, van Tintelen JP. An international evidence based reappraisal of genes associated with arrhythmogenic right ventricular cardiomyopathy (ARVC) using the ClinGen framework. Circ Genom Precis Med. 2021;14:e003273 doi: 10.1161/CIRCGEN.120.003273

• Cadrin-Tourigny J*, Bosman LP*, Nozza A, Wang W, Tadros R, Bhonsale A, Bourfiss M, Fortier A, Lie ØH, Saguner AM, Svensson A, Andorin A, Tichnell C, Murray B, Zeppenfeld K, van den Berg MP, Asselbergs FW, Wilde AAM, Krahn AD, Talajic M, Rivard L, Chelko S, Zimmerman SL, Kamel IR, Crosson JE, Judge DP, Yap SC, van der Heijden JF, Tandri H, Jongbloed JDH, Guertin MC, van Tintelen JP, Platonov PG, Duru F, Haugaa KH, Khairy P, Hauer RNW, Calkins H, Te Riele ASJM*, James CA*. A new prediction model for ventricular arrhythmias in arrhythmogenic right ventricular cardiomyopathy. Eur Heart J. 2019;40:1850-1858.

• Murray B, Tichnell C, Burch AE, Calkins H, James CA. Strength of the genetic counselor:patient relationship is associated with extent of increased empowerment in patients with arrhythmogenic cardiomyopathy (ACM). J Genet Counsel. 2022;31(2):388-397. doi: 10.1002/jgc4.1499

• Wang W, Murray B, Tichnell C, Gilotra NA, Zimmerman SL, Gasperetti A, Scheel P, Tandri H, Calkins H, James CA. Clinical characteristics and risk stratification of desmoplakin cardiomyopathy. Europace. 2022;24(2):268-277. doi: 10.1093/europace/euab183

Courses & Syllabi

Rotation supervisor, genetic counseling students. Teaching/modeling interface of research and clinical genetic counseling with students doing 8 or 16 week rotations, University of Maryland, 1/1/13

Honors

• 2022 Zurich Arrhythmogenic Cardiomyopathy Clinical Science Research Prize, University of Zurich - ACM International symposium, 9/22/22
• Catalyst Award, Johns Hopkins University, 1/1/19
• National Society of Genetic Counselors Jane Engelberg Memorial Fellowship Award, 1/1/14

Lectures & Presentations

• Alternative models of delivering cardiac genetic counseling and care, Invited presentation, Heart Rhythm Society Scientific Sessions, Heart Rhythm Society, San Francisco, California, 5/1/22
• Genetic testing and counseling - Doing it right, doing it smart, Invited presentation, American College of Cardiology Scientific Sessions, American College of Cardiology, Washington DC, 4/2/22
• International evidence based reappraisal of genes associated with arrhythmogenic right ventricular cardiomyopathy using the Clinical Genome Resource framework, 2022 Zurich Arrhythmogenic Cardiomyopathy Clinical Science Research Prize awardee invited presentation, 5th Zurich International Symposium on Arrhythmogenic Cardiomyopathies, University of Zurich, Zurich, Switzerland, 9/22/22
• New Developments in Arrhythmogenic Cardiomyopathy - Risk stratification", Invited presentation, Venice Arrhythmias conference featured symposium, HRS-VA joint symposium, Venice, Italy, 10/14/22
• Scalable solutions for genetic counseling, Invited presentation, NHGRI Genomic Medicine XIV meeting and workshop, NHGRI, Bethesda, Maryland (virtual), 9/1/22

Graduate Program Affiliations

• Johns Hopkins Bloomberg School of Public Health / National Institutes of Health Genetic Counseling Training Program Executive Committee member and thesis advisor: https://www.genome.gov/careers-training/Professional-Development-Programs/Genetic-Counseling-Training

   

Memberships

• Founding Member, Johns Hopkins / Kennedy Krieger Institute Genetic Counseling Consortium
• National Society of Genetic Counselors (NSGC)
• Member, Heart Rhythm Society (HRS)