• By Bradley Power, MS, CGC
  • Posted June 11, 2024

A Journey through the Undiagnosed Disease Program: An Interview with Ellen Macnamara, MS, CGC

As part of working together on a recent EducateNext webinar, I had the privilege of reconnecting with my colleague and mentor, Ellen Macnamara, ScM, CGC. Mrs. Macnamara is a genetic counselor with the National Institutes of Health Undiagnosed Diseases Program. Brad: Hi Ellen. We’re excited to host you for a webinar. Can you tell us more about…

  • By Meghan Towne, MS, CGC, LCGC
  • Posted May 2, 2024

Gene-Disease Validity: Developing and Applying a Rigorous Framework in a Diagnostic Laboratory Setting

Our understanding of genes and diseases is constantly evolving. At Ambry Genetics, we develop and continuously refine our testing services based on the ever-expanding body of scientific evidence. The process of assessing the relationship between a gene and a disease is called gene-disease validity (GDV) scoring and is fundamental to genetic testing.…

  • By Meghan Towne, MS, CGC, LCGC
  • Posted April 2, 2024

Family Trios Gene Reclassification: Optimizing Diagnostic Potential Impact of Exome Sequencing

The ability of exome sequencing (ES) to detect variants across the genetic code makes it a powerful diagnostic tool, reducing the number of tests and time to diagnose patients with rare disorders. However, with this broad detection range comes the challenge of identifying which of hundreds or thousands of rare variants may be clinically meaningful…

  • By Elizabeth Chao, MD, FACMG
  • Posted February 29, 2024

10 Ways Genetic Laboratories Can Support the Rare Disease Community

Rare diseases are not as rare as one might think—there are more than 6,000 identified rare diseases affecting over 300 million people worldwide. Over 70% of rare diseases have a genetic cause, and as a leading commercial laboratory, we understand the important role we play in the rare disease community. Every day, we provide genetic test results…

  • By Catherine Schultz, MS, CGC
  • Posted February 26, 2024

From Awareness to Action: Supporting Rare Disease Today and Everyday

February 29th, the rarest day in the calendar, serves as a beacon of hope and solidarity for those affected by the rarest of diseases. Rare Disease Day is dedicated to raising awareness about rare diseases and the millions of individuals around the world affected by them. It is also a time to shine a light on the incredible work being done by…

  • By Meagan Farmer
  • Posted December 8, 2023

A Genetic Counselor’s Experience with Proactive Reanalysis through Patient for Life: An Interview with Kelly Minks, MS, CGC

At the National Society for Genetic Counselors Annual Conference, I had the chance to sit down with Kelly Minks, MS, CGC. Ms. Minks is a genetic counselor in the Department of Neurology at the University of Rochester Medical Center, with a clinical practice focused on pediatric neurology. She routinely orders exome testing for children with developmental…

  • By Andrew Giles, MS, CGC
  • Posted December 5, 2023

Addressing equity in exome sequencing: Proactive reanalysis through the Ambry Patient for Life program helps to reduce racial, ethnic, and ancestral disparities

We know there are healthcare disparities among racial and ethnic groups; these disparities also impact genetic testing. Research and clinical studies have lacked diverse representation and have been predominantly composed of people with European ancestry. As rates of testing have rapidly increased, this gap has only widened. This means much of…

  • By Nicole Teed
  • Posted November 14, 2023

Peace of Mind: Michelle Majewski Trusts the Patient for Life Program to Share Answers for Her Son Owen

Like most working moms, Michelle Majewski is busy. She spends her days juggling a career as a sales account executive, managing a household, and spending quality time with her husband, their son Owen, and their two dogs. Owen, now 4 years old, is a charmer. He also has extra medical needs, without a clear diagnosis or explanation. The search for…

  • By Catherine Schultz, MS, CGC
  • Posted July 18, 2023

Gene of the Month: KCNH5

In 2013, Emma’s parents1 hoped that a new genetic test, whole exome sequencing (WES), would reveal why their 2-year-old daughter developed epileptic encephalopathy. However, when Emma’s WES results were negative, her parents were disappointed. How could they examine the whole exome and not find an answer? For patients with rare genetic disorders…

  • By Morgan Turpin, MB(ASCP), CGMBS
  • Posted June 8, 2023

Morgan Turpin and Son Shayne Find Connection with Dravet Syndrome Families

Morgan Turpin, MB(ASCP), CGMBS, Technical Systems Manager, is an Ambry Genetics employee who has firsthand knowledge of the benefits of exome testing. Her son Shayne went through a diagnostic odyssey of his own before he was a toddler. Exome testing opened up many possibilities for the family, including an online community and treatment options.…