Wellcome Connecting Science | February 10, 2021

For patients receiving genetic counselling there is often a mixture of emotions and anxieties involved. 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. So how can transcultural genetic counselling services help?

“Trans people need access to healthcare services that treat us with respect and consider us as whole individuals. Whilst there is a shortage of research on trans populations, it is incumbent on clinicians to ensure they ‘do their homework’ to properly understand the how the combination of different physical attributes and psychosocial circumstance are likely to influence the particular needs of a given patient, not reducing us to only our medical transitions, nor ignoring those interventions when they are in fact relevant. Trans people struggle to access a range of healthcare services due to administrative and other barriers that rely on cissexist assumptions to gender people and their medical needs in a way that is often wrong if those people are trans. This has eroded the trans community’s trust in clinicians and many, perhaps most, trans people have had experiences that make it harder for them to trust medical personnel. All too often, trans people suffer preventable illness or even die preventable deaths because a lack of cultural competence – in other words, a lack of respectful treatment – in their healthcare encounters has lead them to avoid asking for help with their medical needs, knowing that often they will have to educate their healthcare provider about what their transgender medical history means for care, despite (usually) not having any medical training of their own; if this is accompanied with misgendering or careless errors of cultural competence, the costs of seeking medical advice begin to exceed the benefits.” – Reubs Walsh

Translating Complex Messages to Diverse Populations

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 genetic information, what inherited risks their family faces and what they can do to mitigate these risks. The role of the genetic counsellor is to help unravel the complex reactions to the implications of genetic disease to make it easier for patients to understand and come terms with their diagnosis, and broach difficult discussions with their families about the symptoms of a condition, screening, the future, and available services and support. These complexities vary depending on the patient and their unique set of circumstances, meaning that many forms of high-quality communication skills are required to overcome the challenge of translating complex messages across to diverse populations, and effectively navigate the psychological impact, too. This is particularly relevant to transgender and non-binary patients, who may experience a challenging road to seeking the help and advice they need from healthcare professionals generally. 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.

How can ‘transcultural’ genetic counselling services help?

Transcultural genetic counselling involves having knowledge and awareness of specific cultural perspectives that may impact the communication process; including transgender-specific perspectives. There is an urgent need for genetic counsellors specialising in transcultural communication to work with the transgender community on determining a set of appropriate guidelines to support genetic counselling practitioners working with transgender and non-binary patients. This issue was explicitly highlighted at the 2019 World Congress on Genetic Counselling. A 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. Reubs Walsh, a scientist at the Vrije Universiteit Amsterdam department of Clinical, Neuro-and Developmental Psychology – working on psychiatric outcomes in typical adolescents, 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.

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 base 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. This relates to another issue that genetic counsellors may need to consider when thinking about trans patients’ needs – aside from the tendency for accumulating bad experiences with medical professionals to lead trans people to avoid medical care and mistrust clinicians, access to GC services may be delayed by the referring service chasing red herrings because they’ve over-(or under-) estimated the relevance of a patient’s gender identity and/or medical transition to the issue at hand. 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.

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 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 readily 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, or terms that are gendered in a more identity-congruent way, regardless of the current shape of the anatomy.

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 globally this tool is a long way from being fully inclusive and representative. The National Society of Genetic Counselors (US) has taken some first steps to address this, but their recommendations haven’t been trailed in the UK or European context and so may not be transferable.

Genetic counsellors possess unique skills and understanding to support and empower the transgender community, but more needs to be done to ensure that the transgender community lead on defining guidelines and best practice to inform trans-/cross cultural counselling, and subsequently mainstream these approaches into clinical practice.
More can be explored about trans-/cross-cultural counselling support in the publication: ‘Getting The Message Across’ – (Jennifer Wiggins and Prof. Anna Middleton)
For a more detailed discussion of how to create a trans-inclusive environment in your clinical genetic counselling service, look out for the forthcoming commentary in JoGC, by Alexander Von Vaupel-Klein and Reubs Walsh.