Opening the Black Box:
Telling the Story of a Genomic Diagnosis

For most of us, the journey to a genomic diagnosis, from initial consultation to delivery of the test results, is a black box. Samples enter through one side and out the other side an answer (hopefully) emerges.

Here, through a series of short video conversations, we follow the journey of Karen Lettington and her son George as they are enrolled in the 100,000 Genomes Project, searching for answers to George’s significant healthcare challenges.

We learn about the typical stages of a diagnosis and hear from Karen’s geneticist, Dr Meriel McEntagart from St George’s Hospital NHS Trust in London. Laboratory technicians from Illumina then explain what happens to the blood samples of Karen and her family once they arrive at their laboratories so they can be DNA sequenced before being analysed and interpreted by the bioinformatics and clinical team at Congenica. We then hear from Karen and Meriel again to understand more about what it means to the family when George is diagnosed with a mutation in the gene VAMP2.

Read the many inspiring stories shared by rare disease patients and their families to learn more about the impact genomics is already having for people with rare genetic disorders.

George’s Diagnostic Odyssey

Chapter One

Karen discovers that her son, George, has a significant healthcare challenge

Chapter Two

Karen has a consultation with consultant geneticist, Dr Meriel McEntagart, and is enrolled into the 100,000 Genomes Project

Chapter Three

DNA is isolated from Karen’s family’s blood samples and prepared for sequencing

Chapter Four

Karen’s family’s DNA is sequenced in preparation for analysis

Chapter Five

Karen’s family’s genomes are analysed

Chapter Six

Karen’s family’s genomes are interpreted for a genomic cause

Chapter Seven

Karen and Meriel discuss the genomic findings for George

Chapter Eight

Karen uses her family’s diagnosis to reach out to other families around the world to investigate George’s disorder further
Congenica is a proud member of IRDiRC, fully supporting the consortium’s vision of enabling all people living with a rare disease to receive an accurate diagnosis, care and available therapy within one year of coming to medical attention.

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