Case #3: A Twist in the Tale

Hello, and welcome to TheGeneScene. Today, we're delving into a remarkable story from a recent genetic counseling session. Sometimes, the genetic information we uncover during a session can be surprising, even life-changing. In this post, we'll explore a case where unexpected genetic results took both me and the patient by surprise, reshaping their understanding and the emotional journey that follows.

A clinical child psychologist had referred the 32 year old consanguineously married lady for counseling, whose son had recently been diagnosed with mild ADHD and had also been presenting with behavioral issues, lack of interest in eating and self talking. The lady was referred primarily to understand the recurrence risk for ADHD as well as implications of multiple levels of consanguinity in the family for her next pregnancy. 

An important part of a genetic counseling session is documenting the family history in the form of a pedigree. This process serves several purposes: it helps build rapport with the family, provides insight into family dynamics and relationships, and offers critical medical information about all family members. A standard practice I follow when creating the pedigree, regardless of the referral reason, is to ask about any family history of cancer. Most people are aware that cancers can run in families. Yet, more often than not, it only comes up when specifically asked for. I have personally had multiple sessions where there is a previously unreported family history of breast, colon, pancreatic or other hereditary forms of cancers. 

This session was no different. When asked about her family's medical history, the woman mentioned that her mother had been diagnosed with breast cancer at the age of 48. Upon further inquiry, she said her mother had undergone germline genetic testing and received a negative result.

However, when she showed me the report on her phone, it revealed a BRCA2 positive result with a pathogenic variant identified. I was taken aback when I saw the BRCA2 positive report with a pathogenic variant identified.

It was clear that the results had significant implications for the family's health. When I shared this observation, the woman admitted that no one had really explained the report to her, and she must have misunderstood the findings. 

There are two key points I'd like to highlight here:

First, while it's common for a family history of cancer to be revealed only after specifically asking about it, this was the first time I encountered a situation where a family member had undergone genetic testing for cancer and received a positive result. Typically, even if there is a family history of cancer, tests are either not conducted, or the reports are unavailable.

Second, it’s not uncommon for patients to share their previous genetic test results while having no understanding of the significance and the implications, whether those results are positive, negative, or inconclusive. Patients often lack a clear understanding of their genetic test results, leading to unnecessary worry and confusion. It underscored the importance of thorough communication and education to ensure patients are fully informed and supported throughout the process.

A lot of times genetic counselors have a flow or structure planned for a session and unexpected findings can shake things up. It is important to have the flexibility to be able to adapt and change the session based on the findings and family’s needs. Keeping the BRCA2 finding in mind, the focus of the session moved from explaining the multifactorial inheritance pattern and genetic testing options for ADHD (more on the details of this in another post), to the implications of the BRCA2 finding for the lady and her brother. 

After reviewing the BRCA2 result, the woman acknowledged that she must have misunderstood the findings and expressed a strong desire to know her own mutation status and cancer risk. She seemed concerned and eager to gain clarity on her health situation. When I inquired about her feelings regarding this unexpected discovery, she admitted feeling nervous and anxious about her results and potential risk. 

As a genetic counselor, every session brings its own set of challenges and surprises, but some cases stand out for their profound impact on both the patient and the counselor. This case underscored the importance of thorough communication in genetic counseling. It highlighted how critical it is to ask detailed questions about family history and ensure patients fully understand their test results. 

Additionally, it is crucial to address the results by providing clear, empathetic communication and support. When patients receive unexpected news, it’s essential to take the time to explain the findings thoroughly, ensuring they understand what the results mean for their health and their family's health. Offering emotional support and acknowledging their feelings of anxiety or fear is vital. This involves validating their emotions, providing reassurance, and discussing actionable next steps. Connecting patients with additional resources, such as support groups or mental health professionals, can also be beneficial. By guiding patients through their emotional responses and helping them navigate their options, we can help them feel more informed and reassured, ultimately reducing their distress and empowering them to make informed decisions about their health.

Apart from a lot of obvious reasons, I’m essentially writing about this case to highlight the importance of sitting across an individual during a session and making sure we, as genetic counselors and healthcare providers, ask the correct questions to not miss out important information. Let me know if you have had a similar situation or how you would approach this case. 

Looking forward to getting some responses on this post. You can reach me at hello@thegenescene.in

Best,

Simran