Addressing inclusion in genetic counselling

A trans community perspective

For patients receiving genetic counselling there is often a mixture of emotions and anxieties involved. The very purpose of this service is to help people make sense of who they are, what inherited risks they might face, or even come to terms with a difficult diagnosis.

For transgender and non-binary patients however, the road to seeking help and advice from genetic counselling practitioners can be more challenging. The binary and gender-specific approaches commonly used during genetic counselling practice, can fail to recognise those who do not fit within a binary system, often exacerbating existing anxieties. This lack of structure and ‘best practice’ around how to provide trans-inclusive medicine makes the healthcare system appear hostile, and therefore effectively inaccessible, and puts these individuals at risk of further stigmatisation, dismissal, developing preventable health issues, or indeed having serious health conditions overlooked.

This issue was explicitly highlighted at the recent 2019 World Congress on Genetic Counselling. This meeting, funded as part of the Advanced Courses and Scientific Conferences (ACSC) programme, and jointing organised with the Wellcome Genome Campus Society and Ethics Research group, both based at the Wellcome Genome Campus in Hinxton, Cambridgeshire, emphasised the need for the transgender community themselves to lead on determining a set of appropriate guidelines to support genetic counselling practitioners working with transgender and non-binary patients.

Reubs Walsh, a scientist at the Vrije Universiteit Amsterdam department of Clinical, Neuro-and Developmental Psychology – working to define better healthcare guidelines for the transgender community, joined the Congress to deliver a talk on transgender risk profiles.

We caught up with Reubs, who drew on her own experiences as a transgender woman, as well as the most recent findings in trans healthcare research, to share with us her insights about cultural and biomedical competencies and knowledge that can impact health risk considerations and the overall healthcare experience.

Reubs Walsh, a scientist at the Vrije Universiteit Amsterdam department of Clinical, Neuro-and Developmental Psychology
Reubs Walsh, a scientist at the Vrije Universiteit Amsterdam department of Clinical, Neuro-and Developmental Psychology

What do you feel are the main challenges facing transgender patients in need of genetic counselling support?

One of the biggest challenges to transgender and non-binary genetic counselling patients is altered health risk factors, and whether or not healthcare professionals have the appropriate skills and knowledge to take these into consideration when identifying and offering advice and treatment options for hereditary conditions, especially given the lack of a strong research basis for including trans patients in areas of medicine outside of gender-affirming care.

It is common for practitioners to explain transgender patients symptoms away by reference to their transgender status when it is not actually that relevant, or conversely to completely ignore it when it could be pertinent. When who you are challenges the status quo it is too easy for important information to be missed, and risk factors increase as a result.

It should be no surprise to learn that cultural competencies are highly correlated with clinical competencies and outcomes. This means that the resources used by healthcare professionals to articulate a clear understanding around very personal and complex issues, really do matter.

Reubs Walsh, discussing the challenges trans patients can face when visiting genetic counselling services.

Does this mean that clinically there are problems with diagnosis?

Too often clinicians and healthcare professionals only see a patient in one of two forms, either – “male” or “female”, and view hereditary disease-risk in those terms. This means that as a transgender woman your risk of prostate cancer or cardiovascular disease could be completely overlooked, or equally as a transgender man your risk of cervical cancer could be seriously underestimated. This can lead to fatal consequences, and means in risk terms, transgender patients are more vulnerable.

Another factor is overlooking the effects on health risks associated with certain hormone treatments. Failure to take into account the altered risk of certain genetically-linked diseases as a result of exposure to specific hormones, is yet another systemic issue for transgender patients putting them at greater risk of missed or inaccurate diagnosis.

How important is language really?

Certainly a misuse of appropriate language during the counselling stage can run the damaging risk of exacerbating body dysphoria, which will ultimately lead to an erosion of trust, and a breakdown in the effectiveness of any relationship and communication between a patient and someone responsible for their welfare.

Rather than empowering individuals to make difficult decisions about their lives and families, sometimes symbols and language (key to the genetic counselling experience), can often be used in a way that feels exclusionary -especially if they misrepresent the person’s lived reality. Many transgender and non-binary patients are left feeling marginalised, vulnerable and misunderstood by their healthcare experience, which make them less reassured by the clinician.

In your opinion, what can genetic counsellors do to improve trust and communication?

Firstly, it is about common courtesy. How you address someone in any situation is an important basis for determining respect and cooperation. Listen to your patient, and pay attention to how they refer to themselves, their body parts and so on, particularly if they specify pronouns they prefer to use to describe their identity. Try not to assume anything, especially with the use of gender-specific terms or pronouns.

Always be consistent with patient notes and follow up activity. Correct pronouns should be used consistently throughout the entire process, to build trust and reduce agitation. When you first encounter a new patient, be careful not to broadcast their assumed gender, e.g. by using a title when calling them in a busy waiting room.
Secondly, be mindful of the language used to discuss the body, and try not to refer to gendered characteristics (such as breasts for example). Instead, look for neutral terms that are less likely to cause embarrassment or discomfort.

Thirdly, do not assume that all transgender patients have mental health problems, and that any subsequent health-related problems are somehow connected. It is true that in some cases considerations around mental health, particularly where inherited risks are involved, may be needed. However, this is not automatically related to how someone defines their gender identity.

The ‘pedigree model’ is the main tool used by clinicians and genetic counsellors to explain inherited disease risk. As a member of the transgender community, what is your opinion of the pedigree symbols used to represent transgender and non-binary individuals?

In the same way that language matters, so too does the consistent and sensitive use of visual aids to represent a clear and accurate understanding of patient risk.

At the moment this standardised chart uses a mixture of symbols interchangeably to represent transgender communities, with almost no consideration for patients who identify as non-binary. With no ‘official’ professional consensus on which symbols to use, this tool is a long way from being fully inclusive and representative.

Professor Anna Middleton - Pedigree Model

Perhaps the most sensitive approach would be to use the symbols to represent identity, but annotate using a key as needed. Assigned sex can be conveyed with short acronyms (AMAB, AFAB), as can hormone and surgical treatments relevant to the present consultation.

Fundamentally, when it comes to healthcare for transgender and non-binary communities, the social research, as well as the clinical medical research, is still in its infancy, making this a language of discovery that should be curated by those it directly impacts, if ‘best practices’ are ever to be established.

Download the full set of talk slides, from Reubs Walsh, on: Specific Considerations in Genetic Counselling of Transgender Patients: Cultural Competencies and Altered Risk Profiles.

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