Sex, Gender, and DNA Testing
The words “sex” and “gender” are often used interchangeably, including on medical forms and identity documents. People are frequently required to nominate their “sex” or “gender” in these circumstances, often from a list that is limited to only male or female as an option, which for some is not necessarily a straightforward choice. The World Health Organisation (WHO) has acknowledged that sex and gender are actually different concepts and should be recognised and treated as such. The difference between sex and gender has particular implications for DNA testing, especially for individuals who are intersex, transgender, non-binary or gender non-conforming.
Sex vs Gender
The WHO (2011) defines sex as categories based on a combination of biological and physical characteristics such as reproductive organs, chromosomes, and hormones. Sex is generally assigned at birth based on external genitalia, with people most commonly identified as either male or female. This assignment doesn’t always align with a person’s internal physiology, or with how they feel or identify as they grow. This is particularly true for a small percentage of people born with “sex characteristics that don’t fit medical norms for female or male bodies” (Australian Human Rights Commission, 2021). These characteristic variations are not always discovered. When they are, the person is generally identified or referred to as intersex.
Gender is defined by the WHO as identities and categories based on social or cultural characteristics (2011). A lot of people have gender identities that match the sex they were assigned at birth, however some people have gender identities that are different from the sex they were assigned. These people might identify as transgender or non-binary and may express their gender identity through clothing and accessories, behaviour, changes to hair and other physical features, name changes, hormones or surgical interventions. Gender identities, and the many ways in which identity may be expressed, do not change a person’s chromosomes, inherent sex characteristics (based on the above definition) or their DNA.
Why is the difference between sex and gender important in relation to DNA testing?
Generally, humans each have 23 pairs of chromosomes or “threadlike structures made of protein and a single molecule of DNA that serve to carry the genomic information from cell to cell” (National Human Genome Research Institute, 2022). One of the 23 pairs is referred to as the “sex chromosomes”, with most people having either an XX or XY pair of chromosomes. These chromosomes generally determine whether a person will have body parts and reproductive organs traditionally viewed as female or male, with the XX combination producing reproductive organs traditionally viewed as female and the XY pairing producing reproductive organs traditionally viewed as male.
When a DNA test is undertaken, the resulting DNA profile will indicate whether the person has XX, XY or another variation of chromosomes. The person’s gender identity does not have any impact on their combination of chromosomes. For most people, their chromosomes match their gender identity. For some however, their gender identity does not match their chromosomes. For example, a person may not identify as female, but a DNA test might show that they have an XX pair of chromosomes. A person might identify as male, but when tested is shown to have chromosomes that suggest they are intersex.
At Identilab, we treat all clients with respect, honesty, equality and integrity. We understand that undertaking DNA testing might be a sensitive and distressing experience, particularly for those who identify as transgender, non-binary, or gender non-conforming. With the aim of avoiding misgendering clients or producing misinterpreted or incorrect results, it is important that Identilab collects as much information as possible on both a client’s sex (as assigned at birth) and gender. Identilab staff are happy to guide clients through every step of the process to help reduce any anxiety they may be feeling about having the test carried out. Please call us on 1300 114 294 to discuss your needs.
