Navigating the Landscape of Language

Lynn Bush and Katie Ellis
Co-Chairs, Genetic Counseling, Ethics, and Patient Education Special Interest Group

The Genetic Counseling, Ethics, Patient Education SIG welcomes all ISPD conference attendees to engage in robust discussion with panelists April Adams, Jane Fischer, Dora Mayen, Mark Pertile, Asha Talati and SIG co-chairs/moderators Lynn Bush, Katie Ellis at our Monday educational breakfast as we consider Navigating the Landscape of Language: How do we interpret roses with thorns? These engaging conversations will explore how our words influence the way patients consider their path through the prenatal landscape. How does our selection of words affect our patient’s perception and interpretation of their choices, their findings and management options? “Interpret” can evoke, and play off of, several terms we'll readily integrate in the discussion: such as perception (pregnant person and professionals each with their own biases), counseling, communication, decision-making, and education. Together we will examine how our language in consultations, ultrasound and laboratory reports can color how pregnant individuals and families perceive the information being presented. 
 
We will reflect on and tease apart how our words for some individuals conjure images of thorns (“risk”, “abnormalities”, “mutations”) yet others might also view it as a rose, recognizing that most families do go through a grieving period even when they want to continue the pregnancy and see the child as a blessing. Healthcare Professional's (HCP) language can modify the interpretation -- and  our implicit bias modifies our interpretation. Rarely is it a black/white scenario. In a similar context, this can also resonate to the research setting, and particularly when findings may be reported. How can we enhance the relationship with pregnant people to one of partnership with shared decision-making? How do we support pregnant people within the local regulatory or legal frameworks? Thinking about visual image, a rose has thorns—demonstrates complexity like a glass half full or half empty. How does one perceive, and communicate-counsel-speak of a “glitch in dna”: is it a pathogenic variant (that may or may not manifest as pathogenic) vs an evil “mutation” (that may or may not manifest as a mutant"? We will raise terms such as "knowledge" and "disabilities" to highlight how our typical phrases are often value-laden and subject to much implicit bias while emphasizing the  importance of using objective/unbiased language in all discussions for further group discussion and debate. 
Some literature we suggest to continue on this theme follows:

We may not always be sensitive to the fact that some or most of this language is subjective in nature rather than objective. Further, until recently, the broader medical community had typically underappreciated how the lack of diversity in our field has resulted in a cultural narrative of ableism and deficit in sociodemographic humility that colors our interactions with our patient population. We are not immune to the influence of dominant societal understandings of, and attitudes toward, individuals and groups of people deemed to be “others”. (Janz, CMAJ 2019).

Moreover, it is critical that we are aware of a wealth of research showing that health care professionals are consistently found to substantially underestimate the quality of life of people with disabilities (Kothari S, Kirschner KL. Abandoning the golden rule: the problem with “putting ourselves in the patient’s place”. Top Stroke Rehabil 2006;13: 68–73) compared to those with a disability. In fact, the notion of “quality of life” as a reliable indicator of the appropriateness (or not) of a medical course of treatment for a person with disabilities is thus deeply problematic (Janz)

One of the many concerns is that our biases around the quality of life experienced by people with disabilities can result in treatment options for those individuals being either limited or not offered. We use terms such as pain, suffering, disadvantage, morbidity, mortality amongst high risk, abnormality, defect. 

Some suggested reading of this topic and how pregnant people and families would like the information provided are below:

  1. Stephanie E Wallace, Sara Gilvary, Michael J Smith, Siobhan M Dolan. Parent Perspectives of Support Received from Physicians and/or Genetic Counselors Following a Decision to Continue a Pregnancy with a Prenatal Diagnosis of Trisomy 13/18. J Genet Couns. 2018 Jun;27(3):656-664. doi: 10.1007/s10897-017-0168-6. Epub 2017 Oct 27
    This study investigates the extent that pregnant people felt supported by their healthcare providers following their decision to continue their pregnancy after a diagnosis of Trisomy 13 or 18. The study identified that healthcare providers used directive language such as “incompatible with life” and commenting on burden to other family members when describing the lethality, morbidity and burden of the condition. Patients suggested that Healthcare providers can assist by providing unbiased, up-to-date written resources and connecting them with support groups for parents who have received a similar diagnosis.

  2. Jennifer Guon, Benjamin S Wilfond, Barbara Farlow, Tracy Brazg, Annie Janvier. Our children are not a diagnosis: the experience of parents who continue their pregnancy after a prenatal diagnosis of trisomy 13 or 18. Am J Med Genet A. 2014 Feb;164A(2):308-18. doi: 10.1002/ajmg.a.36298. Epub 2013 Dec 5. PMID: 24311520 DOI: 10.1002/ajmg.a.36298
    This paper provides insights from parents on their experience of a prenatal diagnosis and trisomy 13 or 18 and their life after the child’s birth to better enable HCPs to counsel and support families. Parents describe "Special" healthcare providers as those who gave balanced and personalized information, respected their choice, and provided support. 61% felt pressured to terminate the pregnancy and 94% were informed their baby would likely die before birth. The paper outlines the varied reasons families gave for continuing the pregnancy.  

    See also (Lynn makes required reading for all medical students and genetics trainees): Tracey K. Koogler, Benjamin S. Wilfond, and Lainie Friedman Ross. Lethal Language, Lethal Decisions. Hastings Center Report. 2003; 33(2):37-41.

  3. Caterina Milo. The role of knowledge and medical involvement in the context of informed consent: a curse or a blessing?  Med Health Care Philos. 2023 Mar;26(1):49-54. doi: 10.1007/s11019-022-10121-z.
     Epub 2022 Nov 1.
    Informed consent particularly with respect to prenatal diagnosis is the focus of this paper. The paper highlights informed consent as a partnership; to operate for patients and to support them in the decision-making process within the medical encounter with clinicians and beyond. It highlights that communication needs to be open, non-directive nor judgemental and tailored in a patient-centred way, namely in a way that is understandable and meaningful for the actual patient. On a more wider scale, information concerning screening and testing for disabilities has often been subject to what can be defined as a ‘medical gaslighting’, with a strong framing effect in the clinicians’ hands. The paper raises the issue that often information provided is focused on negative information around the medical risks connected to raising a child with a disability rather than the experiential reality of a disability for both the child and parents. 

  4. Trisha Kaundinya, Samantha Schroth. Dismantle Ableism, Accept Disability: Making the Case for Anti-Ableism in Medical Education. J Med Educ Curric Dev. 2022 Jan-Dec; 9:23821205221076660. Published online 2022 Feb 2. doi: 10.1177/23821205221076660 PMCID: PMC8814984, PMID: 35128061
    The authors, two medical students who identify as having disabilities argue why Medical Education needs to be inclusive to reduce the framework of ableism that medicine has been created in. In its simplest definition, ableism refers to a framework of thought and action that prefers certain types of bodies and minds over others; centres a notion of ‘normal’ within a hierarchy of value whereby ‘abled’ is superior to ‘disabled’. 

  5. Ethical issues in prenatal genetic diagnosis is the first report on this subject by the Joint Committee on Genomics in Medicine (comprising the Royal College of Physicians, Royal College of Pathologists and British Society for Genetic Medicine (including representatives from the Royal College of Obstetrics and Gynaecology and the Royal College of Paediatrics and Child Health)). It builds on related guidance Consent and confidentiality in genomic medicine published in 2019 by the Joint Committee on Genomics in Medicine. https://www.rcplondon.ac.uk/file/41666/download__;!!NZvER7FxgEiBAiR_!qV-UbggP6FiGImgqvbbpahOzXj15tSinIBJf8ufJG0VgQQj1u3vv-HazIrzNQ7o2nfKQmcOtqiJFGbqAJ_0PKg$

  6. Prenatal Neurological Diagnosis: Challenges in Neuroimaging, Prognostic Counseling, and Prediction of Neurodevelopmental Outcome
    Sonika Agarwal, Tomo Tarui, Virali Patel, Abigail Turner, Usha Nagaraj, Charu Venkatesan
    Pediatric Neurology, DOI: https://doi.org/10.1016/j.pediatrneurol.2023.02.013
    This topical review of fetal neurological consultations highlights prenatally diagnosed brain “abnormalities” that challenged prognostic counseling and perinatal management. The authors include prenatal and postnatal information with their case study presentations as they discuss prenatal testing, fetal MRI interpretation, and complexities in the prognostic counseling process. They advocate for large-scale multicenter studies and a national collaborative fetal neurological registry to help guide the ever-expanding world of prenatal diagnostics, emphasizing that prognostic counseling is critical to this field. The authors highlight that “study of large-scale outcomes data from such a registry can better guide fetal neurological consultations and facilitate comprehensive multidisciplinary planning and program development for educational curriculum for fetal-neonatal neurology.”