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NEWS

Science, Stories & the Future of Genomics

For clinicians, patients, and the curious — insights on genomics, hereditary conditions, and the stories that remind us why this work matters.

Articles Tagged: Genetic Testing

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February 7, 2024

CARE Patient Examples at Lake Health

Liese Vito
Liese Vito, Obstetrician-Gynecologist, Lake Health Physician Group Women’s Health Specialists
Dr. Liese Vito shares examples of hereditary cancer testing at Lake Health for patients with a BRCA+ and PMS2 mutation and the preventative healthcare measures…
BRCA1 & 2
Breast Cancer
Colorectal Cancer
Genetic Testing
Hereditary Cancer
OBGYN
Ovarian Cancer
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January 30, 2024

Ambry Collaborations with GeneMatcher Help Further Disease Gene Discovery and Improve Diagnostic Rates

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Meghan Towne, Genetic Counselor, Reporting- Clinical Genomics
Meghan Towne discusses the partnership of diagnostic laboratories with GeneMatcher to contribute to gene-disease discovery.
Genetic Testing
Genetic Testing Accuracy
Mendelian diseases
VUS
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January 24, 2024

Hereditary Cancer Testing with CARE

Liese Vito
Liese Vito, Obstetrician-Gynecologist, Lake Health Physician Group Women’s Health Specialists
Dr. Liese Vito describes the CARE Program at Lake Health and how it was able to help them offer hereditary cancer screening and genetic testing…
Breast Cancer
Genetic Testing
Hereditary Cancer
OBGYN
Ovarian Cancer
Prevention
Screening
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January 17, 2024

The Patient Impact of Lab Expertise and Collaboration

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Jessica Scott, Genomic Science Liaison II
Chana Ratner, Genetic Counselor at Hackensack University Medical Center, discusses her experience as a clinical genetic counselor.
Genetic Counselors
Genetic Testing
RNA
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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