Directions for future study

The purpose of this study was to gather the perspectives of transgender individuals to improve genetic counseling education and policy for this population. It is clear from our data that transgender patients have specific preferences regarding the language and terminology employed in a genetic counseling setting, but more research is needed to

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develop a comprehensive educational curriculum for counseling transgender and non- binary patients. Most notably, surveys or interviews of transgender patients who have had genetic counseling would be of great value in guiding educational initiatives. Once an educational curriculum is developed, an experimental study could be designed to measure patient satisfaction and assess curriculum effectiveness.

This study offered a limited number of proposed pedigree symbols. If it is decided that a symbol matching the patient’s gender identity with text underneath to indicate the patient’s sex assigned at birth is be adopted as standard pedigree nomenclature for transgender men and women, further research would be needed to determine what text would be most appropriate.

In this study and others, both transgender participants as well as genetic counselors have raised the question of what, specifically, the shape of pedigree symbols intends to represent. In their 2008 update to Standardized Human Pedigree Nomenclature, the Pedigree Standardization Work Group “continues to recommend that the male or female symbol be used to define the phenotypic gender” of an individual but does not define what constitutes “phenotype” in this context. For the purposes of this study, it was assumed to be the gender identity of an individual. As a discipline, medical genetics providers must decide precisely what we are intending for pedigrees to document—be it gender, assumed sex chromosome complement, sex assigned at birth, or something else entirely—before we can select appropriate pedigree symbols for transgender and non-binary individuals.

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