#209 Aspects of Quality Genetic Testing with Blueprint Genetics

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. So she met with a bunch of labs to ask them about their tests so she could decide who she would be ordering from. 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. We’re joined by two experts from Blueprint Genetics, Dr. Kirsty Wells and Rachel Goldberg, MS, CGC for this episode!

Dr. Wells is a Senior Geneticist and Team Lead at Blueprint Genetics where she specializes in interpretation of ophthalmology panels and whole exome sequencing data. She has a background in both research and diagnostics. 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.

Rachel Goldberg is a Genetics Services Consultant at Blueprint Genetics. She previously worked as a pediatric, adult, and laboratory genetic counselor in both direct and non-direct patient care roles. She attended graduate school at Long Island University.

On This Episode We Discuss:

Defining a quality genetic test

Top-notch sequencers

Depth of sequencing

AI programs, tools, and techniques for analyzing quality data

Acceptable turnaround times for gene panels, exomes, and genomes

How labs can achieve a patient-first mindset

Things that healthcare providers can do to provide a quality experience

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

Head over to blueprintgenetics.com and follow Blueprint on Twitter, Facebook, and LinkedIn.

Stay tuned for the next new episode of DNA Today on November 11th where we explore reproductive medicine with Dr. Tristan Hardy! New episodes are released on Fridays. In the meantime, you can binge over 205 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.

DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli.

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TrakGene has designed a genetics electronic health record. Here’s what it features: pedigrees, demographic data, genetics information, risk tools, and sophisticated reporting, all within a clinician designed workflow. It integrates within other clinical genetic software, databases, and hospital information systems to maintain accurate patient records. Go check it out at Trakgene.com. Be sure to check out Episode 208 and Episode 210 of DNA Today featuring Trakgene. [Sponsored]