Neurogenetics

Monogenic neurological diseases, such as Duchenne Muscular Dystrophy (DMD), Parkinson’s Disease (LRRK2), and Huntington’s Disease (HTT), present unique diagnostic and therapeutic challenges. Advances in genomic technology have allowed us to identify specific genetic mutations responsible for these conditions, providing insights with the potential to dramatically enhance clinical outcomes. Genetic findings can play a critical role in shaping personalized treatment plans for patients.

Genetic diagnosis profoundly affects the management of neurological diseases. It offers definitive diagnosis, informs prognosis, and aids in family planning. For diseases like Alzheimer’s (PSEN1, PSEN2) and Epilepsy (SCN1A), understanding genetic mutations allows for developing targeted therapies and improved management strategies, potentially delaying disease progression and enhancing patient quality of life.

Diagnostic Precision: Identify the underlying cause of neurological disorders.

Personalized Treatment: Tailor therapeutic approaches (i.e. antiepileptic, anticoagulants) to maximize efficacy and minimize adverse effects.

Predictive and Preventive Strategies: Detect at-risk individuals early and enable proactive interventions and risk management.

Family Planning: Assess the chance of a neurological condition occurring in children or other relatives.

Education and Support: Connect patients to support groups, clinical studies for genetic neurological disorders, specialists, and other valuable resources.

SequenceMD begins all genetic evaluations with the patient, not the referral. Rather than testing based on a single suspected neurological diagnosis,we leverage a full clinical history, cross-system findings, and family risk assessment. Our clinic evaluates each patient holistically, weighing genetic, environmental, and familial factors. Testing indications also expand as any additional risks are found (like family history of cancer prompting hereditary cancer testing). Through secondary and complementary testing (such as pharmacogenomics, carrier screening, and polygenic risk scoring), we build a complete genomic health profile for every patient.

Our clinical genetics experts deliver detailed recommendations to primary care and referring providers, translating genomic findings into actionable clinical guidance. If you are diagnosed with a genetic disorder, we will partner with your care team:

• Review the condition’s natural history, clinical presentation, and medical management
• Discuss targeted treatment options, specialty consultations, and monitoring
• Guide family counseling and service coordination
• Provide continuing patient care with annual follow-ups
• Reanalyze genetic data and results in light of new breakthroughs