Beyond NIPT: Bridging the 60% Genetic Risk Gap with gNBS

Introduction: The Missing Piece in the NIPT Era

Over the last decade, Non-Invasive Prenatal Testing (NIPT) has revolutionized prenatal care. While screening efficacy for major aneuploidies like T13, T18, and T21 now approaches 99%, a significant clinical gap remains. In practice, a vast majority of congenital anomalies are not caused by chromosomal numerical aberrations, but by Single Gene Variants that lie beneath the resolution of standard NIPT.

Counting chromosomes is no longer enough. To provide true ‘Family Planning,’ clinicians must look beyond a single point in time and adopt a continuous genomic strategy that spans from pre-conception to post-delivery.

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1. [Pre-pregnancy] Carriership Screening: Identifying Heritable Risks

Even in healthy couples without a significant family history, the statistical probability of being a carrier for a rare autosomal recessive (AR) disorder is clinically meaningful.

• The Clinical Gap: While NIPT assesses the fetal chromosomal state, it cannot preemptively identify the risk of AR disorders inherited from asymptomatic parents.
• Clinical Insight: Integrating Carriership Screening into early family planning allows clinicians to identify high-risk couples before or during early pregnancy. This enables informed decision-making regarding Preimplantation Genetic Testing (PGT) or Prenatal Diagnosis (PND), reducing unnecessary parental anxiety during the NIPT stage.

2. [Post-birth] gNBS: Countering the Unpredictable ‘de novo‘ Variables

A normal parental carrier status does not guarantee a healthy genomic outcome for the neonate. The most significant risks often arise from unpredictable genetic events.

• The “de novo ” Challenge: Clinical data suggests that over 50–60% of diagnosed rare genetic disorders are caused by de novo mutations—variants that appear spontaneously in the offspring despite normal parental genotypes. These are inherently undetectable through parental Carriership Screening.
• Clinical Insight: gNBS (Genomic Newborn Screening) directly analyzes the neonate’s genome, regardless of parental heritage. While Carriership Screening assesses “what is inherited,” gNBS identifies “what is present,” including de novo dominant variants. It serves as the definitive clinical safety net to secure the golden hour for treatment.

3. The “Continuum of Trust”: Carriership-NIPT-gNBS

For the clinician, this integrated roadmap is not merely an additional test—it is a mandatory protocol to minimize diagnostic uncertainty and provide holistic care.

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3billion: Your Trusted Clinical Genomics Partner

3billion does not require complex infrastructure or software integration. We operate as a Diagnostic Service Partner, allowing specialists to focus entirely on patient management.

• Full-Spectrum Analysis: We target over 7,000 single-gene disorders often missed by NIPT.
• Proven Expertise: Backed by 15+ years of clinical genetics experience, we deliver high-fidelity reports that translate complex data into actionable medical insights.
• Seamless Workflow: Simply send the specimen (DBS or Buccal). No capital expenditure or specialized software is needed to implement university-grade genomic diagnostics in your clinic.

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Closing: A Proposal for Continuous Genetic Care

Concluding a consultation with “The chromosomes are normal” provides only a partial truth. Modern medicine now allows for a much broader scope of prevention. By managing parental risk through Carriership Screening and countering unpredictable de novo mutations with gNBS, you provide your patients with the highest level of clinical certainty available today.

[Next Steps for Clinicians]

Learn how to integrate genomic screening into your existing workflow.