It was an honor for the Myriad Genetics team to attend this year’s annual meeting of the National Society of Genetic Counselors (NSGC). This is one of our favorite conferences, giving us a great opportunity to catch up with one of the most important groups of healthcare providers in the genetic testing field.

Genetic counselors often go as unsung heroes in precision medicine. Their recommendations — regarding which tests are most appropriate for a patient and how to interpret and act on test results — make it possible for people to take advantage of healthcare that’s tailored by genetic insights.

As with every year, we eagerly signed up to attend the 40th annual NSGC conference, and we were thrilled to be selected to give presentations there as well. Here are the highlights of those presentations in case you missed them.

Presentation #1

  • Title: Can Expanded Carrier Screening Shorten the Diagnostic Odyssey in those with Genetic Disease?
  • Presenter: Maysen Mesaros from the Medical University of South Carolina, who completed an internship at Myriad Genetics
  • Research topic: Many pediatric disease cases are diagnosed with whole exome sequencing. Is expanded carrier screening of the parents a viable alternative instead?
  • Summary: Maysen and her colleagues reviewed 28 groups of patients for whom previous testing data was available. They found that more than 43% of commonly diagnosed autosomal recessive or X-linked conditions were included in standard expanded carrier screening panels, indicating that whole exome sequencing may not be needed to diagnose many pediatric cases.

Presentation #2

  • Title: A Noninvasive Prenatal Screen that Achieves ≥4% Fetal Fraction in >99.9% of Patients
  • Presenters: Rotem Ben-Shachar, Katie Johansen Taber, Dale Muzzey, and Susan Hancock, all from Myriad Genetics
  • Research topic: This team aimed to determine whether fetal fraction amplification can improve results by increasing the fraction of cell-free fetal DNA used in non-invasive prenatal screening tests.
  • Summary: They analyzed results from nearly 105,000 patients for whom non-invasive prenatal screening was performed using fetal fraction amplification, finding that this approach improved the level of cell-free fetal DNA available.

We hope everyone enjoyed the NSGC meeting as much as we did. We’re already looking forward to next year’s conference!