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Genetic Software for Today's Families: A Timeline of LGBTQIA+ Inclusivity in PhenoTips

PhenoTips is committed to continually evolving our software to help clinicians represent all patients and families with clarity and care.

MEAGHAN LIST

Published on June 25, 2025

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A PhenoTips user cycles through the options for sex and gender with one family member selected in a pedigree chart within PhenoTips' pedigree maker, showing how the symbol for the individual changes based on the various combinations of sex and gender. See the graohic below for a description of all ten new symbols representing trans and intersex patients in pedigree charts.

At PhenoTips, inclusivity is fundamental. While some genetic software struggles to represent LGBTQIA+ patients and families, PhenoTips understands that digitizing genetics shouldn’t mean losing flexibility easily accommodated by pen and paper. 

Healthcare providers should have access to digital tools that support capturing structured, accurate, machine-readable patient information from the very first visit onwards. With every update we continue to work to ensure our software respects patients, assists clinicians, and adapts alongside evolving standards.

2014: Representing Same Sex Couples

Inclusivity is at the very core of our complete Genomic Health Record. Since the earliest version of the software released in 2014, PhenoTips’ digital pedigree maker has made it easy for users to create same-sex relationships. As a result of this flexibility, clinicians can seamlessly create charts that represent LGBTQ+ families with no workarounds, as opposed to forcing users into heteronormative defaults.

A detailed digital pedigree chart with multiple generations and complex family structures. The chart includes various symbols representing individuals with different genders, adoption (dashed lines), and partnerships. One individual is marked with a small arrow indicating the proband (the person of interest for genetic assessment). There is also a panel to the right with an option to add family members not in pedigree.

Since the earliest version of the software released in 2014, PhenoTips’ digital pedigree maker has made it easy for users to create same-sex relationships.

By allowing for same sex-couples since the inception of our software, PhenoTips set the tone for the many inclusive features that followed.

2022: Gender and Sex in the Pre-Visit Patient Questionnaire

Inclusivity isn’t limited to pedigree charts. Our pre-visit patient questionnaire is a digital intake form that patients fill out before their first visit automatically generating a pedigree chart, supporting patients’ ability to enter their gender separate from sex. This feature allows patients to describe their identity on their own terms before they meet with a counsellor.

Additionally, the questionnaire supports patients in providing information about family members whose gender differs from their sex assigned at birth, ensuring these identities are accurately documented. As a result, it equips clinicians with the context they need to deliver informed care before a patient is ever seen in the clinic.

A digital intake form titled 'Your Information' showing inclusive gender identity options. The form includes fields for first and last name, date of birth, sex assigned at birth (Male, Female), and a question about differing gender identity with Yes/No options. Current identity choices include Male, Female, Non-binary/Genderqueer, and Other. Measurements for height and weight are also collected.

The pre-visit patient questionnaire is a digital intake form that patients fill out before their first visit automatically generating a pedigree chart, supporting patients’ ability to enter their gender separate from sex.

Furthermore, the questionnaire aims to streamline clinics’  intake process without losing the flexibility that was easily accommodated by pen and paper forms. Our digital questionnaire reduces discomfort patients may feel when asked personal questions face to face. Instead, they can provide sensitive information upfront to ensure their clinic visit is a safe and supportive space. 

Learn more about the pre-visit patient questionnaire

2024: Separating Sex and Gender in Pedigree Charts

Until recently, there were no agreed upon standards for representing transgender and non-binary patients. However, within the last few years, the National Society for Genetic Counselors published a framework for capturing sex separately from gender in the clinic. With standards now available, PhenoTips updated the Genomic Health Record’s pedigree maker in 2024 to support separate structured data fields for sex and gender. 

In addition to improving the accuracy of patient and family representation, this update helped limit barriers transgender individuals face in receiving appropriate care. As a result, genetic counselors are now able to reference a patient’s complete genetic information while identifying them accurately and respectfully.

Updates included a dedicated gender field with options such as male, female, non-binary, other, and unknown, and a dedicated sex field with unidentified, intersex, male, and female options. The selection of sex and gender options in a pedigree chart results in node shapes that reflect gender and labels such as AFAB, AMAB, AIAB, UAAB to indicate assigned sex at birth when it differs from gender. 

A reference chart showing symbols used in pedigrees to represent individuals with diverse sex and gender identities.

Capturing sex separately from gender in PhenoTips pedigree maker results in over a dozen possible symbols to represent trans, non-binary, and intersex family members.

Additionally, when creating a new partner, nodes now default to the opposite gender, rather than opposite sex. These changes further our goal of supporting clinicians’ ability to accurately build pedigrees in a manner that reflects both the clinical and personal aspects of a patient and their family.

Read more about the gender and sex pedigree update

2025: Supporting Single Parent Families

The ability to accurately represent the complexities of a family structure is crucial for genetic professionals. In order to accommodate non-traditional families, PhenoTips released a vital update to the pedigree maker in 2025, supporting single parent nodes of any sex or gender in a pedigree chart. 

Previously, users were forced to create a fictitious or placeholder partner to complete the chart. As a result, charts became confusing, cluttered, and inaccurate. Whether a patient’s family includes a single parent or is a blended structure, this update ensures that families who don’t follow a two-parent template can be represented accurately while setting PhenoTips up for future updates to inclusivity, such as displaying donor conceptions.

A PhenoTips user in the Genomic Health Record's Pedigree Chart Maker created a single parent family

This update ensures that families who don’t follow a two-parent template can be represented accurately while setting PhenoTips up for future updates to inclusivity, such as displaying donor conceptions.

Read more about the single parent pedigree update

Why Inclusive Pedigrees Matter

Pedigree charts do more than record genetic information, they build trust between patients and genetic counselors and help patients feel seen. Consequently, inclusive design isn’t optional, it’s essential. Continually updating our software to be more inclusive allows for more accurate care, affirming each patient’s identity and lived experience. At PhenoTips, we remain committed to this process, ensuring that every chart and field is another step towards equitable care for all.

What’s Next

Standards for representing transgender and non-binary individuals didn’t always exist, PhenoTips acted early, making sure to support representation of gender diverse individuals before official standards were published in 2022. 

PhenoTips has always been an early adopter of standards. In addition to gender standards, PhenoTips was the first tool to adopt the Human Phenotype Ontology (HPO), a standardized vocabulary of phenotypic abnormalities found in human disease. 

“You can either wait for the standard to be completely developed before adopting it or you can help drive it”, explains Dr. Orion Buske, CEO of PhenoTips. 

Instead of waiting for every guideline to be finalized, PhenoTips drives adoption while always maintaining the flexibility to adapt. That way, patients can be represented clearly today and patient and family records adjusted seamlessly with the emergence of new standards. 

In the future, our goal is to continue updating our software to be more inclusive. For example, users can expect a dedicated field for pronouns, improved representation of mitochondrial, sperm, and egg donors, and the inclusion of gestational carriers. And as always, as standards continue to evolve and become publicized, PhenoTips will continue to adopt and drive them.

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