Our science

At the forefront of genetic screening and testing technology

Validated test performance for confident decision-making

Our scientific contributions

Our next generation sequencing platform is scientifically validated to provide industry-leading sensitivities and specificities.

Keeping real people at the center of everything we do, we give reliable and actionable results, provide one-on-one support, and have designed a workflow to make the patient’s experience easier.

Explore the entire archive of our scientific contributions, with highlights of our most recent work.

Research spotlight

Demonstrated reliability across all patient types with Prequel® Prenatal Screen

Two peer-reviewed publications showcase Prequel’s expertise across all patient types, irrespective of fetal fraction or BMI

Don’t all pregnant patients in your practice deserve the same standard of care?

A passion for precision

As one of the pioneers in clinical next generation sequencing (NGS) and one of the largest sequencing facilities in the world, Myriad Genetics’ CLIA laboratory has tested over one million samples. With a relentless dedication to qualify and passion for providing the best care to our patients, we have developed a new paradigm of precision manufacturing at scale.

Our technology

Myriad Genetics has applied expertise in assay chemistry, software engineering, and automation to improve qualify of all aspects of laboratory testing, from accessing and reagent manufacturing to result reporting.

Because manual processes are the most common cause of laboratory error, we have eliminated almost all manual sample transfers and manual transcription.

In order to ensure the highest quality results, the raw data for all reportable results are reviewed by licensed personnel.

Peer-reviewed validation

Myriad Genetics sequencing tests are designed to the highest quality standards.

Our validation studies have demonstrated the Foresight® Carrier Screen has greater than 99.99% analytical sensitivity and specificity.

Scientists and genetic experts

All of Myriad Genetics clinical laboratory scientists who work directly with patient samples or review results are licensed by the California Department of Public Health. They play an active role in partnering with R&D in the development of new test methods and perform validations.

Our board-certified laboratory support genetic counselors play a key role in addressing questions from healthcare providers regarding Myriad Genetics’ genetic testing services. They also review test reports to help ensure clinical accuracy and serve as liaisons to assist with laboratory-related requests

The curation process

Any novel variant identified in a patient sample at Myriad Genetics undergoes real-time curation. Our team of expert variant curation scientists systematically gathers and critically evaluates all available evidence to determine a variant’s clinical significance.

After rigorous, robust, and thoughtful expert review, we use stringent criteria to classify variants according to ACMG guidelines.

Achieving both high sensitivity and specificity, our variant interpretation pipeline is thorough, reproducible, and accurate. Myriad Genetics’ classifications are highly concordant with those of other expert labs.

Variant curators

Myriad Genetics’ team of expert variant curators are MS/PhD scientists and certified genetic counselors with multidisciplinary expertise in clinical counseling, biochemistry, biophysics, molecular biology, cell biology, population genetics, and bioinformatics. With 120+ years of combined curation experience, our team has classified more than 200,000 variants at Myriad Genetics to date.

CGMBS training program

The mission of our Clinical Genetic Molecular Biologist Scientist (CGMBS) program is to prepare qualified individuals for licensure as Clinical Laboratory Scientists specializing in Genetics and Molecular Biology. The year-long curriculum includes didactic-based learning and extensive laboratory experience. Graduates of the program are well prepared to successfully pass their certification exam(s) and perform as well-rounded CLS Specialists.

Contact [email protected] to learn more.

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