In preparation for my upcoming podcast to help educate genetic counselors on using gender inclusive language, I researched gender inclusive practices within the genetic counseling field. Below are my findings on how genetic counselors can provide safe and effective healthcare for transgender and gender diverse people.
Genetic counselors use their specialized education and training in the field of medical genetics to help guide patients to make the best decisions for themselves. In this role that can be both extremely challenging and extremely rewarding, genetic counselors can find themselves in the middle of very complex and difficult situations, often times involving multiple family members and difficult emotions, such as guilt and blame. Transgender, nonbinary, other gender diverse, and intersex people already face barriers to accessing healthcare, and are at risk of avoiding healthcare altogether to avoid further harm. Implementing gender inclusive practices reduces barriers that impede patient's ability to access medical care while communicating medically relevant biologically, clinically, and genetically meaningful information.
What strategies are most important for creating safety and providing clarity about the clinical importance of both sex assigned at birth and gender identity?
Validate gender identity
Use inclusive and well-defined pedigree symbols that denote both sex assigned at birth and gender identity.
Integrating language that recognizes and affirms all people seeking care and their loved ones is very important. If you are unfamiliar with any terms, I included a list of relevant terminology at the bottom. Thank you for taking the time to read this and educate yourself. Working together we can provide better care. :)
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Why does providing gender-affirming genetic counseling require gender inclusive language?
Gender inclusive language helps people feel safe and comfortable, establishes trust, and promotes health equity. Exclusive language can cause unnecessary pain by erasing client's identities, and can lead to some people avoiding healthcare altogether in an effort to avoid further harm. Inclusive language can validate people's lived experience and improve their health outcomes. For example, research has shown gender inclusive language is associated with decreased rates of depression and suicidality for transgender and gender diverse people.
Why do genetic counselors need to differentiate between sex assigned at birth and gender?
While sex assigned at birth is important for determining risk for certain conditions, recognizing a client's gender is necessary to provide trans-inclusive care. Researchers have found that interviewed members of the transgender and non-binary communities felt that it is the genetic counselor’s responsibility to create safety and provide clarity about the clinical importance of both sex assigned at birth and gender identity for transgender and gender patients (Barnes et al, 2019). Two strategies to achieve this safety and clarity are validating gender identity, and using inclusive and well-defined pedigree symbols that denote both sex assigned at birth and gender identity.
How can I validate gender identity by using gender inclusive language?
Include pronouns in your introduction
Use people's pronouns and preferred names
This also means that you will need to avoid gender-specific terms until you're told what someone's pronouns are. You can avoid assuming pronouns by having your default pronouns be they/them. Yes, they can be used as a singular pronoun.
Ask questions using gender-inclusive language
Learn inclusive terminology
Ensure intake forms are inclusive
Use a two-step approach to address gender identity. If your workplace's forms aren't updated, ask both what is your sex assigned at birth, and what is your gender identity.
Be a role model
Model using correct names and pronouns, even when the person isn't there. Correct others if they use the wrong pronouns or someone's non-preferred name.
Follow the principles of trauma-informed care.
As medical professionals, we are experts on our area of expertise, and very comfortable talking about very complex topics. We also can talk comfortably about things that might be very uncomfortable for our clients, because it's not personal. Putting yourself in the shoes of your client, they may be uncomfortable for many reasons. A history of trauma in medical settings is common in the trans* community, but that discomfort might be because the secretary misgendered them coming in, or overwhelmed by talking about risk for a disease that they are only at risk for because of their gender incongruent sex assigned at birth. Giving clients space that you don't fill to think and insert their thoughts can help bring up questions they might not otherwise thought of, or been comfortable sharing.
How can I use inclusive and well-defined pedigree symbols that denote both sex assigned at birth and gender identity?
The use of pedigree nomenclature requires distinguishing sex from gender identity. Broadly speaking, sex is defined by morphology or biology (phenotype, karyotype, etc.), while gender refers to social constructs and internal self awareness that cannot be seen on genetic tests.
Per the National Society of Genetic Counselors focused revision in 2022, recording information on a pedigree, gender inclusive practices would include the following:
1. Distinguish gender from sex. The pedigree symbol represents gender (square, circle, diamond)
establish gender by asking the proband/consultant
The absence of notation beneath a diamond indicates that sex and/or gender identification of the individual are unknown or not specified
AMAB = Assigned Male At Birth
AFAB = Assigned Female At Birth
UAAB = Unassigned At Birth
Per these guidelines, for children who have not yet expressed a gender identity, and in the context of pregnancy, stillbirth, and relatives, unless known to be otherwise sex and gender are assumed to be congruent.
2. Limit identifying information to maintain confidentiality and privacy.
3. Key/legend should contain all clinical information relevant to pedigree interpretation (e.g., define fill/shading).
4. For clinical (non-published) pedigrees include:
Name of proband/consultand
Family names/initials of relatives for identification, as appropriate
Name and title of person recording pedigree
Historian (person relaying family history information)
Date of intake/update
Indication for taking pedigree (e.g., abnormal ultrasound, familial cancer, developmental delay, etc.)
Ancestry of both sets of grandparents, when clinically relevant
5. Recommended order of information placed below symbol (or to lower right)
Age; can note year of birth (e.g., b.1978) and/or death (e.g., d. 2007)
Evaluation results, e.g. genome sequencing, gene panel, karyotype, ultrasound, etc.
Pedigree number (e.g., I-1, I-2, I-3), typically used in research or publication
More detailed information about pedigree nomenclature use can be found at the links below.
Relevant terminology:
Sex assigned at birth: a parent or medical professional assigns a sex based on visual evaluation of external genitalia or secondary sex characteristics. Sex assigned at birth is most commonly male or female, but also includes intersex. Intersex people are born with physical characteristics of both genders. (Biological sex is exclusive, and should be avoided.)
Variations of sex characteristics (VSC) is a broad description of varied conditions which lead to differences in the development of urogenital tract, external genitalia, development of secondary sex characteristics, and other clinical characteristics. Sometimes referred to as intersex, differences of sex development, or by using the name of a specific variation.
Gender identity is based on a deep sense or knowing of one's own identity, and cannot be interpreted. Many different terms are used to describe gender identity, including woman, girl, man, boy, non-binary, agender, pangender, trans woman, trans man, gender queer, gender fluid, FTM, MTF, transmasculine, transfeminine, and more. Some people may refer to their own gender identity with outdated terms, but we always use the terms people use about themselves. Use open-ended questions about gender identity to promote discussions without any predetermined definitions to help clients feel safe and seen.
Transgender refers to a person whose gender identity doesn't align with their sex assigned at birth. Trans people may use terms such as trans man, trans woman, transmasculine, transfeminine, nonbinary, gender nonconforming, gender queer, or others to describe their gender identity. (The terms male to female, MtF, and female to male, FtM should not be used.)
Cisgender people's gender identity is the same as their sex assigned at birth. It is important for cisgender people to know they are cis.
Gender expression is the a way a person expresses their gender identity through appearance, dress, voice and communication, chosen names, and pronouns. Gender expression is most commonly masculine, feminine, or androgynous.
Gay, lesbian, straight, and queer typically refer to who people choose to have sex or relationships with, or who they are attracted to.
Karyotype: a person's karyotype is the general appearance of the complete set of their chromosomes. Karyotyping discerns a person's chromosome complement, including the number of chromosomes and any abnormalities. Most people have not had their chromosomes karyotyped.
Gender pronouns are words that refer to a person, such as he, she, or they. (Preferred pronouns implies they're optional, just say pronouns.)
Sex assigned at birth, gender identity, sexual and relationship orientations, gender expression, and pronouns can occur in any combination, and any one cannot be accurately assumed or inferred based on knowing any other. Most importantly, when using a pedigree representation for transgender, nonbinary, gender diverse, and intersex people, whenever possible it is recommended to document gender, rather than sex assigned at birth.
References/ Resources
Heather Barnes, Emily Morris, Jehannine Austin (2019). Trans-inclusive genetic counseling services: Recommendations from members of the transgender and non-binary community. J Genet Couns. https://pubmed.ncbi.nlm.nih.gov/31710150/
Robin L. Bennett, Kathryn Steinhaus French, Robert G. Resta, Jehannine Austin (2022). Practice resource-focused revision: Standardized pedigree nomenclature update centered on sex and gender inclusivity: A practice resource of the National Society of Genetic Counselors. Journal of Genetic Counseling, Focused Revision. https://onlinelibrary.wiley.com/doi/10.1002/jgc4.1621
If you're looking for help training your team to have more inclusive practices, I'd be happy to help! And I'm always delighted to help people find voices they love :)
-Tallulah Breslin, MS, CCC/SLP (she/they)
Gender & Identity Affirming Voice Training @Harmonic Speech Therapy
