The use of genetics is changing our ability to diagnose, treat and prevent kidney disease. This evolving field is known as nephrogenetics. At SequenceMD, we use genetic evaluation, testing and counseling to identify disease risk, enable preventive action, and inform the management and prognosis of kidney disease.
Using Genetics to Diagnose Kidney Disease
Genetic kidney diseases can cause a vast array of symptoms. In many cases, genetic testing is critical for accurate diagnosis and tailored interventions. A genetic diagnosis can confirm the presence of hereditary kidney diseases, clarify health outlooks and enable doctors to personalize treatments. Genetic information can also guide important decisions about kidney transplantation and dialysis.
How Nephrogenetic Evaluations Help Patients
- Risk Assessment: Analyze risk and act early to better manage genetic kidney disease
- Proactive Planning: Enable proactive monitoring and management for patients at high risk
- Precise Diagnosis: Identify the underlying genetic cause of kidney problems and disease
- Personalized Care: Improve patient outcomes by using genetic information to inform care delivery and treatment plans
Holistic Evaluation for Every Patient
SequenceMD begins all genetic evaluations with the patient, not the referral. Rather than testing based on a single suspected 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, expanding testing if 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.
Collaboration with Your Entire Care Team
The experts at SequenceMD can translate genetic findings into actionable clinical guidance for your nephrology doctors and your entire care team. Depending on your genetic testing and evaluation results, SequenceMD works with your providers to:
- Review natural history, clinical presentation, and medical management for all genetic conditions
- Discuss targeted treatment options, specialty consultations and monitoring
- Guide family counseling and coordinate additional testing
- Provide continuing patient care with annual follow-ups
- Reanalyze genetic data and results in light of new breakthroughs
