Beyond circles and squares: A commentary on updating pedigree nomenclature to better represent patient diversity

Allysa Tuite, Michelle Dalla Piazza, Kristyn Brandi, Beth A. Pletcher

Research output: Contribution to journalArticlepeer-review

6 Scopus citations


With changes in our understanding of gender identity and disorders of sex differentiation (DSDs), as well as a need to promote medical care that appropriately reflects the intersectional personal identities of patients with respect to sex and gender, we explored possible modifications of pedigree nomenclature to better represent such patient diversity. There are currently no widely accepted standard symbols to simultaneously represent both gender identity and assigned sex at birth within a pedigree. Previous studies assessing perspectives from members of the transgender and gender non-binary (TGNB) community have highlighted the need for a unique symbol to represent non-binary individuals and better ways to represent core gender identities for gender minorities such as transgender individuals. In our experience we have encountered similar dilemmas with documentation for individuals with DSDs in terms of a lack of unequivocal symbolic representation within the pedigree. Here we propose three distinct symbols for gender identity combined with superscript symbols to represent sex assigned at birth, which we think may unequivocally represent TGNB individuals and patients with DSDs. It is clear that further research is needed to ensure that any proposed changes are acceptable by and respectful of all patients regardless of their gender identity and assigned sex at birth. We hope that further research will include focus groups and surveys to get broader input from gender minority stakeholders so that new standards can be developed and modified as we strive to meet the needs of our increasingly diverse patient population.

Original languageEnglish (US)
Pages (from-to)435-439
Number of pages5
JournalJournal of Genetic Counseling
Issue number3
StatePublished - Jun 1 2020

All Science Journal Classification (ASJC) codes

  • Genetics(clinical)


  • access
  • attitudes
  • communication
  • community
  • cultural competence
  • cultural competence
  • disparities
  • diversity
  • education
  • family history
  • gender minorities
  • genetic counseling
  • genetics services
  • intersex
  • non-binary
  • pedigree nomenclature
  • psychosocial
  • transgender
  • underrepresented populations


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