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Pedigree Update: Enhanced Gender and Sex Representation

A new update to PhenoTips' pedigree maker supports inclusive genetic counseling practice with customized symbols and separate fields for sex and gender.

Krista Pace & Erica Peacock
Krista Pace & Erica Peacock
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A screenshot of PhenoTips' Pedigree Maker / Pedigree Tool showing a four-generation family that includes a trans man as the proband, shown by a square with the label 'AFAB', in a relationship with a non-binary person, shown by a triangle labeled 'AMAB'. The proband has a nonbinary parent, shown by a traingle labeled 'AFAB', and one intersex grandfather, shown by a square labeled 'AIAB', and a trans grandmother, shown by a circle labeled 'AMAB'. There is also an intersex great-grandmother, shown by a circle labeled 'UAAB'.
In a new update, PhenoTips users can record sex independently from gender, resulting in customized pedigree symbols that better represent trans, non-binary, and intersex patients.

At PhenoTips, we're committed to providing genomic professionals with software that supports inclusive and respectful patient care. This Pride month, we're thrilled to unveil the latest set of updates to our pedigree tool, which now supports a more granular, intuitive, and inclusive representation of both sex and gender in pedigrees, aligned with the latest literature and guidelines.

Pedigrees are a particularly sensitive part of the medical record. They not only depict clinical information but also deeply personal information about a person and their family relationships. This update will equip genomic professionals with symbols to accurately and effectively communicate this information, and support them in creating an environment in which patients feel safe revealing their gender identity and assigned sex at birth.

PhenoTips' pedigree maker now supports pedigree symbols customized based on over a dozen possible combinations of sex and gender options.

The Pedigree Maker's Previous State

In the past, our pedigree maker assigned symbols based solely on sex, with limited ways to record gender identity. The options for sex were limited to the binary options of male, female, other, or unknown, and creating a partner node would automatically create a node of the opposite sex. We recognized the need for a more inclusive approach that reflects the diverse identities of patients who receive genetic counseling.

We consulted genetic counselors and genomic practitioners to understand what gaps existed in the current pedigree symbols available, as well as what information they felt was important to represent on the pedigree. Additionally, we reviewed the literature published in this area of genetic counseling practice, including the pedigree nomenclature practice resource published by the National Society of Genetic Counselors (2022).

Changes to the Pedigree Maker

To better represent gender identity and sex, we've introduced the following updates:

  • Added 'Intersex' and 'Unassigned' to sex options
  • Created a new gender section in the pedigree with options: Male, Female, Non-Binary, Other, and Unknown
  • Modified the symbol legend selector menu within the pedigree to add additional options for combinations of sex and gender
  • Added acronyms to the bottom-right of pedigree nodes to denote sex assignment at birth (AMAB - 'Assigned Male at Birth,' AFAB - 'Assigned Female at Birth,' AIAB - 'Assigned Intersex at Birth,' and UAAB - 'Unassigned at Birth')
  • Pedigree symbols are now assigned based on a combination of the individual’s recorded sex and gender
  • When creating a partner in the pedigree, a node of the opposite gender is created rather than the opposite sex
  • If a family member in the pedigree has a linked patient record, changes to their sex and gender in their patient record will be reflected in their pedigree. Changes to their sex and gender within the pedigree will also automatically translate to their patient record.
A figure split into 3 parts. The first are 4 triangles, all of which are labeled as gender non-binary, other, or unknown and each with an acronym label in the bottom right corner for: AMAB Sex: Male, AFAB Sex: Female, AIAB, Sex: Intersex, and UAAB Sex: Unassigned. The second are 3 squares, all of which are labeled as gender male, and each with an acronym label in the bottom right corner for: AFAB Sex: Female, AIAB, Sex: Intersex, and UAAB Sex: Unassigned. The third is 3 triangles, all of which are labeled as gender female and each with an acronym label in the bottom right corner for: AMAB Sex: Male, AIAB, Sex: Intersex, and UAAB Sex: Unassigned.
PhenoTips now supports 10 additional pedigree symbols to accurately represent individuals whose gender differs from their sex assigned at birth.

These changes reflect our commitment to inclusivity and the importance of accurate representation in genetic counseling.

Next Steps for PhenoTips' Pedigree Maker

As we continue to improve our pedigree tool, we are focusing on:

  • Adding a field to record preferred pronouns to ensure respectful communication
  • Monitoring changes in standards and publications around sex and gender representation in pedigrees so that we can update our tool if new standard symbol shapes are published

With these updates, we aim to create a more inclusive and accurate pedigree tool that better serves genetic professionals and, most importantly, patients. If you have feedback, questions, or suggestions please contact us at hello@phenotips.com.

Krista Pace & Erica Peacock
Krista Pace & Erica Peacock
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