Webinar: Rare Inherited Disease: 30 Min from data to report

This is a recording of a webinar hosted by Congenica on March 7th 2017. In this webinar, you will learn how Sapientia can help clinical geneticists reach a faster and more accurate diagnosis for patients presenting with phenotypes of a rare inherited disease.

Andrea Haworth, Head of Clinical Services at Congenica and Laura Reed, Pre-Registered Clinical Scientist at Congenica share their experiences of Whole Genome Analysis and the insights gained from using Sapientia with the Genomics England 100K Genomes Project.

Presentations covered in this webinar:

AndreaChallenges and Tribulations of Whole Genome Variant Interpretation

Andrea Haworth, Head of Clinical at Congenica

Whole genome variant interpretation is time-consuming and requires clinical expertise, and inconsistencies in data collection can add to these challenges when translating previous academic findings into actionable intervention in today’s clinics. Andrea explains some of the key challenges and tribulations for genetic scientists in variant interpretation.

Larua Reed

Using Sapientia: How to optimise case reviews from 1 day down to 30 min  

Laura Reed, Pre-Registered Clinical Scientist at Congenica

Using Sapientia, on average, it takes approx. 30 min to review a case. What are the tips to getting the analysis and interpretation done more quickly and accurately, allowing more cases to be reviewed per day?  How can clinical professionals optimise analysis time for whole genomes?  Laura shares her key tips and insights based on the Genomics England 100K Project.

Charles Stweart, Technical Support Scientist at Congenica

Q&A for webinar attendees

Charles Steward, Technical Support Scientist at Congenica

The Q&A is led by Dr Charles Steward, Technical Support Scientist at Congenica.

Charles and his family are taking part in the UK 100,000 Genomes Project and you can read more about Charles’s story here.