Myriad Genetics has patented a method using computer processing to analyze fetal cell-free DNA in maternal samples to detect chromosomal abnormalities in fetuses. The method involves sequencing, determining fetal fraction, measuring genomic region dosage, and providing reports to healthcare providers. GlobalData’s report on Myriad Genetics gives a 360-degree view of the company including its patenting strategy. Buy the report here.

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According to GlobalData’s company profile on Myriad Genetics, Personalized medicine biomarkers was a key innovation area identified from patents. Myriad Genetics's grant share as of January 2024 was 28%. Grant share is based on the ratio of number of grants to total number of patents.

Non-invasive prenatal testing for chromosomal abnormalities

Source: United States Patent and Trademark Office (USPTO). Credit: Myriad Genetics Inc

A recently granted patent (Publication Number: US11854666B2) discloses a computer-implemented method for sequencing a maternal sample of a woman carrying a fetus to determine the fetal fraction and measure the dosage of a genomic region of the fetus. The method involves aggregating genetic sequence reads into bins, generating a bin count vector, and inputting it into a machine learning model to determine the fetal fraction. By measuring the dosage and analyzing statistical significance, the method can identify chromosomal abnormalities in the fetus. In cases where abnormalities are detected, the method prompts re-sequencing and provides a report to the woman, healthcare provider, or institution.

Furthermore, the method includes additional steps such as computing a scalar factor to adjust for differences in fetal fractions between female and male pregnancies, training the machine learning model using supervised techniques, and determining expected dosages based on measurements from other chromosomes. The patent emphasizes the use of machine learning models, such as regression or random-forest models, to analyze sequencing data and predict chromosomal abnormalities accurately. By leveraging a large dataset of training maternal samples, the method aims to provide reliable and informative reports to stakeholders involved in prenatal care, ensuring timely and accurate identification of potential genetic issues in the fetus.

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GlobalData Patent Analytics tracks bibliographic data, legal events data, point in time patent ownerships, and backward and forward citations from global patenting offices. Textual analysis and official patent classifications are used to group patents into key thematic areas and link them to specific companies across the world’s largest industries.