Navigating the Patient Decision to Pursue Huntington Disease Testing: Veronica Santini, MD, MA

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"Without a disease modifying therapy, it's awfully hard to convince somebody who doesn't necessarily want to be tested that it's important for them to be tested, especially for those patients who've already made it to the clinic to see us. So the patient that has come to see me, they're in good hands. They're going to do all right. I'm going to address their behaviorial issues, whether or not they give me confirmatory testing."

Although advances in genetic testing have improved clinicians’ ability to diagnose Huntington disease (HD), the decision to pursue such testing—particularly in patients with early or no symptoms—remains ethically and emotionally complex. During a conversation with NeurologyLive at the 2025 International Congress of Parkinson’s Disease and Movement Disorders (MDS), held October 5-9, in Honolulu, Hawaii, Veronica Santini, MD, MA, emphasized the centrality of trust and patient-centered care when navigating these decisions.

Santini, who serves as associate professor of neurology, clinical chief of the Movement Disorders Division, and chief of the Comprehensive Parkinson’s Disease Program at Yale School of Medicine, noted that the ramifications of a genetic diagnosis can be far-reaching. For presymptomatic individuals, testing may lead to unintended consequences, such as potential discrimination or psychological burden—especially in the absence of a disease-modifying therapy. In these cases, thorough counseling is essential, and the physician must weigh whether testing would meaningfully alter care.

For patients with clear clinical symptoms, Santini noted that a formal diagnosis can sometimes facilitate access to disability benefits or social services. However, she also underscored that a patient’s decision to decline genetic confirmation should not limit their access to comprehensive care. In her practice, Santini noted that symptomatic individuals can be treated based on clinical judgment, even without confirmatory testing, ensuring they receive behavioral and supportive interventions regardless of genetic status.

Another underdiscussed challenge in this landscape is determining who the testing is truly for: the patient or their family members. In cases where the motivation for testing arises from outside the patient, clinicians must remain vigilant to uphold autonomy, particularly when patients may have impaired executive function.

Santini concluded by reiterating that genetic counseling and decision-making require time, patience, and trust. Erosion of the physician-patient relationship because administrative demands or time constraints could compromise these critical conversations, pointing to the essential need to safeguard that relationship to ethically navigate the process of genetic testing in neurodegenerative diseases.

Click here to read more from MDS 2025.