From a DNA data to information the care team can understand
Nova combines structured clinical information, patient-specific variant review, and clinician-focused communication to improve the usefulness of every result.
01
Extensive phenotyping before analysis
Nova’s physician clinical form guides collection of developmental, behavioral, neurological, growth, congenital, and family-history features. A genetic counsellor reviews and structures this information using HPO-compatible terms.
Why it matters
More complete phenotyping helps the analysis prioritize genes and variants that fit the individual patient. It is intended to improve the chance of identifying a clinically relevant explanation.
02
A clinically focused approach to VUS
Nova combines detailed phenotyping with manual evidence review to identify uncertain variants with stronger evidence of possible clinical relevance, including VUS approaching likely pathogenic classification.
Why it matters
Selected findings may help physicians consider appropriate follow-up or surveillance for associated comorbidities that have not yet emerged. A VUS remains uncertain and does not independently establish a diagnosis or justify medical management.
03
Interpretation for underrepresented populations
Patients from underrepresented populations, including Asian, Hispanic or Latino, and Black populations, are more likely to receive uncertain results because genomic databases contain less information from these groups, and standard interpretation methods underperform.
Why it matters
Nova combines detailed phenotyping, manual evidence review, and findings from regional scientific publications to correlate novel variants in the context of the patient’s clinical presentation. This may help clarify findings that would otherwise remain difficult to interpret.
Our team has more than 10 years of experience providing genomic testing and variant interpretation for patients from underrepresented and mixed-ancestry populations.
04
Physician-friendly clinical reporting
Results are organized to help pediatricians and primary-care teams quickly distinguish confirmed findings, uncertain findings, limitations, possible comorbidities, prognosis, and appropriate next steps.
Why it matters
Clearer reporting supports clinically indicated surveillance, referrals, family testing, and follow-up without overinterpreting uncertain findings.
05
A parent summary in everyday English
Every test includes a genetic counsellor-written summary explaining the findings, limitations, and possible next steps in language families can understand.
Why it matters
Parents are better prepared to support their child’s care and watch for emerging health concerns, while the physician counselling burden is reduced.
06
Genetic counseling after testing
Post-test genetic counselling is available to explain the result, family implications, and follow-up options. Periodic reinterpretation or reanalysis is also available as evidence develops.
Why it matters
Families and clinicians receive an understandable interpretation and a clearer path for continuing care.