BioTech IP Review

Assignee: Sequenom, Inc.
Patent Number: 12,437,838 B2
Filed: October 25, 2019
Issued: October 7, 2025
Inventors: Cosmin Deciu, Zeljko Dzakula
Category: Genetic analysis / Non‑invasive diagnostics

What This Patent Covers

This patent protects methods and processes for non‑invasive assessment of genetic variations from biological samples — particularly circulating cell‑free DNA (cfDNA) in blood plasma or other body fluids. The technology is relevant to detecting chromosomal abnormalities and other genetic variations without invasive sampling.

Key aspects include:

• Non‑invasive analysis workflows: Methods for assessing genetic variations using DNA fragments found in cfDNA obtained from a subject’s sample, such as maternal plasma.
• Genetic variation detection: The processes encompass detection of variations such as aneuploidies (e.g., trisomy 13, 18, and 21) and potentially other copy number variations by analyzing sequence or quantification data.
• Algorithms and processes: The claims are likely to cover how sequencing or measurement data from cfDNA is processed and interpreted to infer genetic differences compared to reference data.

In essence, this patent strengthens Sequenom’s IP around non‑invasive genetic testing technologies that allow clinicians and laboratories to assess chromosomal and genetic variation using cfDNA — a core capability for prenatal screening and other genomic diagnostic applications.

Why This Patent Is Important

• Core to Sequenom’s product portfolio: Sequenom’s business revolves around non‑invasive genetic analysis — especially in prenatal diagnostics. Methods for assessing genetic variation from cfDNA are foundational to those services.
• Commercial leverage: Exclusive rights to improved analytical methods help Sequenom defend and differentiate its offerings in a competitive market for cfDNA‑based testing.
• Broader applicability: While traditionally used in prenatal contexts (e.g., screening for Down syndrome), the underlying non‑invasive genetic variation detection also has potential applications in oncology and other areas of personalized medicine.