A patient with an intention tremor, epilepsy, tethered cord and abnormal brain MRI was coming to us for genetic testing. During the appointment, it became clear the patient’s mother was intellectually disabled. Our field is built on patient autonomy and informed consent. My mind raced through the most accessible ways to facilitate decision making, describe a VUS, incidental, secondary findings, GINA (genetic information nondiscrimination act) and details about sample collection.  

I received consent to proceed with exome sequencing (ES). Weeks later, the results were consistent with a dominant intellectual disability syndrome, inherited from the mother. I hadn’t prepared the patient’s mother for this exact possibility. My heart sinks. During the results disclosure, I did my best to explain the results and avoid placing blame. To my surprise, she was relieved and shared that it explained why she required special education in school and felt different than others.  

Since my graduate training, this case and others, left me questioning the best approach to genetic counseling for patients and parents with neurodevelopmental disorders. A systematic review of the opinions and experiences of people with intellectual disability calls the paucity of knowledge “a profound failure of health care accessibility and equity that future research must urgently address” (Strnadová et al.). 

Genetic Testing and Consent 

A genetic counselor’s role has expanded beyond general genetics clinics. We are often called upon to facilitate consent, results disclosure, and interpretation in the NICU, inpatient, neurology, cardiovascular and other specialties where genetic testing is common practice. With the increased accessibility of ES, this diagnostic yield has skyrocketed to >40% in patients with neurodevelopmental disorders (NDDs).  

Neurodevelopmental Disorders 

Have you ever been in an appointment and the guardian cannot answer basic questions about their child’s medical history? Or they had to pull out their driver’s license to recall their date of birth and home address? Many of us can relate to these or similar situations. These are clues that the genetic testing you are pursuing for the pediatric patient could also provide a diagnosis for the parent(s) too. There is limited guidance for genetic counselors on how to handle these scenarios.  

A recent paper describes parental attitudes toward the neurodevelopmental diagnosis, however, the study provides advice on how to deliver the diagnosis to an unaffected parent (Blesson et al.). The key word is unaffected. It is important to note that people with neurodevelopmental disorders (NDDs), intellectual disability (ID) and autism spectrum disorders (ASDs) can and will become parents. It is inevitable that genetic counselors will cross paths with patients and individuals with NDD. So, how do we provide them with the best patient care? Like neurotypical people, those with intellectual disabilities can and wish to participate in their own healthcare management if their providers empower them. In this article, I am bringing attention to the limited guidelines, as well as scratching the surface on the depth of this topic. 

Models of Genetic Counseling 

Historically, genetic counseling has three distinct models, detailed by Dr. Seymour Kessler. These models are commonly covered in genetic counseling master’s programs. The traditional model of genetic counseling can be further delineated into teaching, counseling and reciprocal models. Though Kessler reports that use of one model without the other, is often insufficient. When counseling patients with a NDD, Dr. Brenda Finucane recommends providers stray from the teaching model of genetic counseling and shift the focus of the session toward the counseling model.   

Traditional Model of Genetic Counseling:

• Teaching Model: To educate the patient, emotions are minimized. 
• Counseling Model: To understand the patient, relieve psychological stress. 
• Reciprocal Engagement Model: To provide education shaped by psychology. 

Information giving is often the focus of genetic counseling sessions but shifting that focus to the patients’ thoughts and feelings has proven to be a more successful approach for patients with a NDD. If we take Dr. Finucane’s advice and focus more on the counseling model, this will allow us to utilize the patient’s psychological responses to guide the patient toward an autonomous decision or understanding.  

Potential Psychological Concerns

Failure to recognize a patient or guardian’s intellectual disability could lead to confusion, improper consent and misunderstanding. This ultimately causes a loss of autonomy, justice and equity for the patient. The field of genetics has a complicated history that may cause hesitation and mistrust from marginalized populations. Many healthcare providers are not trained to support the autonomy and equity of individuals with neurodiversity. Therefore, a pattern of infantilization and stigmatization has developed; and in many healthcare settings, persists. Because of this, clinical genetics has been weaponized to justify the sterilization and marginalization of individuals with neurodiversity. There are other implications to consider as well: 

• Does the result challenge the patient’s identity?  
• Does the patient understand the testing to the best of their ability? 
• What are the potential impacts of genetic testing for this patient and their family?
• Are there actual medical recommendations associated with a genetic result that will help this patient or will genetic testing risk further marginalization?

There is a lot to unpack here. New genetic results could challenge one’s perception of self. The parent I described in the beginning was relieved, but in another case, they could be upset. Often, the individual is unaware or possibly in denial of their own intellectual disability. The transmitting parent could be suffering from internal/social stigma or fear of marginalization. 

I wonder how developing a framework or guidelines might aid in genetic counseling of these individuals. I imagine this framework would align with the NSGC Practice Based Competencies. This is meant to be a starting point to acknowledge the lack of guidelines for counseling patients with a NDD, ID, and/or autism. Some of these things may already be common practice for genetic counselors in this space and it should be recognized as such.  

1. Be prepared to provide the information in at least three different ways. Visual, written, audio or metaphor/analogy. 
2. Ask questions to assess comprehension. 
3. Offer a follow-up call to summarize and support. 
4. Provide literature and visuals for the patient to take home/share with others. 
5. Facilitate “what if" scenarios.
6. Create space for emotional/psychological thoughts and feelings.  

In conclusion, there is a profound paucity of knowledge in this realm of genetic counseling. Clearly defined guidelines are needed to direct genetic counselors on how to best care for neurodiverse parents and their children. The genetic counseling community has an opportunity to be more thoughtful and inclusive of learning differences. This group of patients is often highly stigmatized by no choice of their own. Mahatma Gandhi said, “the true measure of any society can be found in how it treats its most vulnerable members.” 

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References

• Blesson A, Cohen JS. Genetic Counseling in Neurodevelopmental Disorders. Cold Spring Harb Perspect Med. 2020 Apr 1;10(4):a036533. doi: 10.1101/cshperspect.a036533. PMID: 31501260; PMCID: PMC7117955 
• Finucane, B. (1998). Acculturation in women with mental retardation and its impact on genetic counseling. Journal of Genetic Counseling, 7(1), 31-47. https://doi.org/10.1023/a:1022864011581  
• Iva Strnadová, Suzanne M. Nevin, Jackie Leach Scully, Elizabeth E. Palmer, The opinions and experiences of people with intellectual disability regarding genetic testing and genetic medicine: A systematic review, Genetics in Medicine, https://doi.org/10.1016/j.gim.2021.11.013  
• Kessler S. 1997. Psychological aspects of genetic counseling. IX. Teaching and counseling. J Genet Couns 6: 287–295. 10.1023/A:1025676205440 

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