How often patients that do not receive results of a causative pathogenic variant for their symptoms should check back with labs to see if any VUSs were reclassified ![]() Things that healthcare providers can do to provide a quality experience ![]() How labs can achieve a patient-first mindset She attended graduate school at Long Island University.ĪI programs, tools, and techniques for analyzing quality dataĪcceptable turnaround times for gene panels, exomes, and genomes She previously worked as a pediatric, adult, and laboratory genetic counselor in both direct and non-direct patient care roles. Rachel Goldberg is a Genetics Services Consultant at Blueprint Genetics. Before joining Blueprint in 2018, she completed PhD and postdoctoral research fellowships, and undertook in-depth training in genetic diagnostics in the UK’s National Health Service. She has a background in both research and diagnostics. Kirsty Wells is a Senior Geneticist and Team Lead at Blueprint Genetics where she specializes in interpretation of ophthalmology panels and whole exome sequencing data. ![]() Kirsty Wells and Rachel Goldberg, MS, CGC for this episode!ĭr. We’re joined by two experts from Blueprint Genetics, Dr. As a brand new genetic counselor, it was hard for Kira to figure out what the important aspects of genetic testing were, so she wanted to dive into what makes a quality genetic test in this episode. So she met with a bunch of labs to ask them about their tests so she could decide who she would be ordering from. When our host, Kira Dineen, began her career as a genetic counselor she was mostly starting from scratch because the private practice she works at hadn’t had a genetic counselor in two years.
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