XXIV Congress of Italian Society of Human Genomics

Illumina is a premium sponsor and will be delivering a workshop on Thursday 18 November from 13:00 to 14:00 on Latest Advances in WGS Adoption for the Diagnosis of Rare Diseases. The talk will be given by Maria Martinez-Fresno (Illumina) and Anna Lindstrand (Karolinska Institutet).

Anna Lindstrand, Karolinska Institutet

Integration of WGS into a healthcare setting

Genomic Medicine Center Karolinska-Rare Diseases (GMCK-RD) represents a long-term collaborative initiative between Karolinska University Hospital and Science for Life Laboratory to establish advanced, genomics-based diagnostics in the Stockholm healthcare setting. Since mid-2015, 3219 pediatric patients have been referred from the specialty outpatient clinic suspected of having a genetic condition. Whole-genome sequencing (WGS) was used as a first-tier test with a phenotype driven analysis including in some cases relatives as well (+1218). Singleton analysis was performed in 84% of the cases.

• Overall, 40% of the patients received a molecular diagnosis ranging from 19 to 54% for specific disease groups.
• A broad range of rare diseases were detected, with significant heterogeneity regarding causative genes (n = 754)
• The analysis covered detection and interpretation of SNVs, INDELs, uniparental disomy, CNVs, balanced structural variants, and short tandem repeat expansions. Variant interpretation is done by 15 expert teams at the hospital involving staff from three clinics.

Maria Martinez-Fresno, Illumina

Latest clinical evidence on the use of WGS for rare disease diagnosis

Clinical WGS continues to make an impact in the rare disease diagnosis becoming a fundamental tool for physicians, ending diagnostic odysseys and impacting affected patients and their families, by providing explanations for their diseases.

• The evidence is accumulating on the benefit of using WGS in rare disease diagnosis.
• Recently the American College of Medical Genetics and Genomics has published new Guidelines recommending the use of exome or genome sequencing as a first-or second-tier test for children with intellectual disability, developmental delay, or multiple congenital anomalies.
• The latest published evidence shows that WGS provides increased yield and treatment impact of whole-genome sequencing in suspected genetic disease and pediatric neurological disorders
• WGS is increasingly being adopted by health care systems and payers, with data on large cohort of patients already available