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The Ambry Blog

Explore clinical deep dives, patient stories, and a look behind the scenes of our scientific research and technologies. Filter by topic to find the insights and stories that matter to you.

Latest Articles

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December 19, 2023

The Path to Clinical Relevance: What a Study on RAD51C Reveals about Resolving VUS

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Marcy Richardson, Variant Assessment Scientist, Ambry Genetics
Marcy Richardson, PhD discusses variant interpretation, VUS, and recategorizing missense genes with an example from Hu et al’s recent publication on RAD51C.
Genetic Testing
Genetic Testing Accuracy
PALB2
RAD51D
Variant of Unknown Significance
VUS
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December 8, 2023

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

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Meagan Farmer, MS, MBA, LCGC
Meagan Farmer interviews Kelly Minks, MS, CGC, a genetic counselor in the Department of Neurology at the University of Rochester Medical Center, who routinely orders…
Epilepsy
Genetic Counselors
Genetic Testing
Whole Exome Sequencing
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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

Emerging evidence shows that exome sequencing outcomes can see similar racial and ethnic disparities as other genetic tests. Therefore, exome reanalysis represents a step to…
Genetic Discrimination
Hereditary Cancer
Whole Exome Sequencing
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November 20, 2023

Guest Blog: The Importance of Family Health History

Genetic counselor Tawanna St. Lewis discusses the importance of family health history and genetic testing.
Family History
Genetic Testing
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October 25, 2023

Off My Chest: How Negative Genetic Testing and a Supportive Community Helped Me Navigate Breast Cancer

Kristina O’Quinn shares her experience as a breast cancer survivor who underwent genetic testing to help inform her mastectomy choices.
Breast Cancer
Breast Cancer Awareness
Genetic Testing
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October 18, 2023

Breast Cancer Awareness Month: CHEK2 with Petra Kleiblova and Zdenek Kleibl

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Meagan Farmer, MS, MBA, LCGC
Petra Kleiblova and Dr. Zdenek Kleib’s commentary on ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast…
BRCA1 & 2
Breast Cancer Awareness
CHEK2