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

Putting Patients First: The Ambry CARE Program®'s Commitment to Patient Experience

Advancing Equity: TriHealth’s Experience Leveraging CARE to Standardize Cancer Risk Assessment
Post Image

Gene-Disease Validity: Developing and Applying a Rigorous Framework in a Diagnostic Laboratory Setting
  • Meghan Towne, MS, CGC, LCGC
  • May 2, 2024

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. …

Read More
Post Image

Putting Patients First: The Ambry CARE Program®'s Commitment to Patient Experience

  • May 1, 2024
Post Image

Advancing Equity: TriHealth’s Experience Leveraging CARE to Standardize Cancer Risk Assessment

  • April 30, 2024
Post Image

Addressing Disparities in Genetic Testing: Strategies for Improving Variant Classification Accuracy in Underrepresented Populations

  • April 29, 2024
Post Image

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

  • April 2, 2024
Post Image

Transforming Fear into Action and Advocacy: Our Family’s Lynch Syndrome Story
  • Noelle Carbognin
  • March 22, 2024

It has been almost 3 years since my father was offered genetic testing after developing three different types of cancers. He also had an alarming family history – multiple relatives with cancer, going back generations. After he received a positive result for Lynch Syndrome, putting him at an increased risk for colon cancer and other types of …

Read More
Post Image

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

  • November 14, 2023
Post Image

Passing on a Legacy of Health: Ben Huebsch Shares His BRCA Story for Men’s Health Week

  • June 14, 2023
Post Image

Morgan Turpin and Son Shayne Find Connection with Dravet Syndrome Families

  • June 8, 2023
Post Image

Live Life Proactively: Trinity Chappelear Shares Life Post-ATM Mutation Diagnosis

  • November 15, 2022

Subscribe

Subscribe to our blog for updates, sent out every month.

Tags