Articles Tagged: Genetic Testing
February 7, 2024
CARE Patient Examples at Lake Health
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
January 30, 2024
Ambry Collaborations with GeneMatcher Help Further Disease Gene Discovery and Improve Diagnostic Rates
Meghan Towne discusses the partnership of diagnostic laboratories with GeneMatcher to contribute to gene-disease discovery.
Genetic Testing
Genetic Testing Accuracy
Mendelian diseases
VUS
January 24, 2024
Hereditary Cancer Testing with CARE
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
January 17, 2024
The Patient Impact of Lab Expertise and Collaboration
Chana Ratner, Genetic Counselor at Hackensack University Medical Center, discusses her experience as a clinical genetic counselor.
Genetic Counselors
Genetic Testing
RNA
December 19, 2023
The Path to Clinical Relevance: What a Study on RAD51C Reveals about Resolving VUS
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
December 8, 2023
A Genetic Counselor’s Experience with Proactive Reanalysis through Patient for Life: An Interview with Kelly Minks, MS, CGC
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