J Genet Couns. 2020;00:1–12. | 1 wileyonlinelibrary.com/journal/jgc4 1 | INTRODUCTION Genetic counseling combines biomedical and psychotherapeutic skills to help patients and their families navigate life events and de- cisions related to genetic disorders or risk of disease. To assist this process in a nondirective way, working with the patient's own val- ues, requires cultural competency to engage with the full breadth of social diversity. As rates of open identification as transgender increase, trans- gender people will be seen more often by genetic counselors. Received: 3 September 2020 | Revised: 24 November 2020 | Accepted: 27 November 2020 DOI: 10.1002/jgc4.1372 SPECIAL ISSUE Considerations in genetic counseling of transgender patients: Cultural competencies and altered disease risk profiles Alexander M. von Vaupel-Klein 1 | Reubs J. Walsh 2,3 This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made. © 2020 The Authors. Journal of Genetic Counseling published by Wiley Periodicals LLC on behalf of National Society of Genetic Counselors 1 Faculty of Medicine, Utrecht University Medical Center, Utrecht University, Utrecht, Netherlands 2 Department of Clinical, Neuro- and Developmental Psychology, Faculty of Behavioural and Movement Sciences, Vrije Universiteit Amsterdam, Amsterdam, Netherlands 3 Gender Identity Research and Education Society (GIRES), Ashtead, UK Correspondence Reubs J. Walsh, Department of Clinical, Neuro- and Developmental Psychology, Faculty of Behavioural and Movement Sciences, Vrije Universiteit Amsterdam, Amsterdam, Netherlands. Email: r.j.walsh@vu.nl Abstract Transgender people are a growing population with specific healthcare needs, barriers to care, and disease risk factors. Cultural competencies for working with transgender people in healthcare settings are essential to reduce barriers to care and combat the associated health disparities. Genetic counselors support their patients to un- derstand and manage medically and personally complex life events and decisions. A genetic counselor caring for a transgender patient or a patient with a transgender relative will therefore require specific cultural competencies and medical knowledge that may not have been covered in their training. Transgender health is also a rela- tively young field in which new insights may quickly become fundamental. The pre- sent paper therefore provides an overview of current best practices for culturally sensitive working with transgender patients, and an introduction to the additional considerations for assessment of disease risk in transgender people. Guidance on how to ensure communication with patients and other stakeholders is inclusive and affirming of transgender identities, is offered. Medical interventions used for gender transitions are described, and their (potential) effects on cancer and cardiovascular disease risk are discussed. Furthermore, the effects of sociocultural risk factors such as minority stress are outlined. In sum, we invite the reader to consider the specific biological, psychological, and social context of the consultation. Finally, we explore culturally competent approaches to pedigree charting and physical examinations with transgender people and provide recommendations for practice. KEYWORDS Cultural competence, discrimination, diversity, risk assessment, Transgender, underrepresented populations