Presentation is loading. Please wait.

Presentation is loading. Please wait.

Genetics Technology: Next Generation Sequencing in Clinical Practice Dr Yvonne Wallis FRCPath Principal Clinical Scientist Head of Familial Cancer Services/

Similar presentations


Presentation on theme: "Genetics Technology: Next Generation Sequencing in Clinical Practice Dr Yvonne Wallis FRCPath Principal Clinical Scientist Head of Familial Cancer Services/"— Presentation transcript:

1 Genetics Technology: Next Generation Sequencing in Clinical Practice Dr Yvonne Wallis FRCPath Principal Clinical Scientist Head of Familial Cancer Services/ Head of Research, Academic and Service Developments West Midlands Regional Genetics Laboratory Healthcare Science Making an Impact in the New NHS 9 th November 2012

2 Next Generation Sequencing: a technology worth getting excited about

3 Landmarks in Genetics Mendel publishes work on inheritance The structure of DNA is described Sanger sequencing first reported Kary Mullis invented Polymerase Chain Reaction Draft sequence of human genome Cost: $2.7 bn Next generation sequencing invented Cost of sequencing a human genome reduced to < $10,000

4 The importance of DNA sequencing Sequencing decodes DNA to produce the precise order of four component bases A, C, G and T The order of these bases defines who and what we are now and in the future Changes to base sequence cause disease either inherited or acquired during our lifetime

5 Next Generation Sequencing-a game changer MiSeq 150,000,000 bases 2% of genome >20,000 genes At WMRGL Sequencing Facility HiSeq 6,000,000,000 bases 2 whole genomes joint initiative Capillary ,000 bases 0.002% of genome 10 genes At WMRGL Sequencing Facility

6 How is NGS improving patient care? Massively Parallel Sequencing Reduces cost per base >1000x Increases data throughput per run More genes More Patients Reducing time to diagnosisIncreasing diagnostic yield

7 Challenges of NGS implementation Technology is demanding, relatively new & evolving Few standard protocols/Limited agreed best practise All new NGS workflows require significant validation Fit for purpose Best possible quality Specialist equipment and data storage requirements Trained workforce: Bioinformatics skills required for data analysis Clinical interpretation of base changes

8 Paraganglioma and Phaeochromocytoma 9 genes Renal Cell Carcinoma 5 genes Colorectal Cancer 6 genes Neonatal liver disease 6 genes Developed NGS service panels

9 NGS service performance metrics Increasing number reported every month Genetic cause confirmed in 21 patients 181 reports issued in 2012 using NGS technology

10 Improved service for our users/patients Previous strategy 5 genes analysed Cost = £1700 Time = 10 months NGS strategy 9 genes analysed Cost = £500 Time = 4 months Phaeochromocytoma gene panel

11 54 years Mesenteric paraganglioma No F/H 3 children Next generation sequencing screen: RET SDHB SDHC SDHD VHL MAX* SDHA * SDHF2* TMEM127* Pathogenic mutation identified TMEM127* c.268G>A p.Val90Met DNA testing now available to appropriate family members Case Study 1

12 Case Study 2 Next generation sequencing screen ABCB4 ABCB11 ATP8B1 NPC1 NPC2 SLC25A13 2 pathogenic mutations identified NPC1 c.2000C>T p.Ser667Phe c.3182T>C p.Ile1060Thr Diagnosis of Niemann Pick disease Appropriate treatment Prenatal testing available for future pregnancies 2 weeks Neonatal choleostasis

13 Diverse clinical applications of NGS in development Inherited breast cancer gene panel 11 genes Diseases of sexual differentiation panel 20 genes Genomic profiling in acute myeloid leukaemia gene panel 59 genes Somatic cancer- stratified medicine gene panel 60 genes

14 NGS-driven landmarks in Genomic Medicine for Genetics Laboratories 2012 Gene panel screens: Across all areas of medicine Gene panel screens: Across all areas of medicine Whole exome sequencing: Missing heritability Stratified medicine Whole exome sequencing: Missing heritability Stratified medicine Deep sequencing for non- invasive testing: Prenatal diagnosis Circulating tumour markers Deep sequencing for non- invasive testing: Prenatal diagnosis Circulating tumour markers Whole genome sequencing: One-stop shop Whole genome sequencing: One-stop shop

15 Partnership for NGS-driven Genomic Medicine High Quality Patient Care Academic Commercial NHS

16 NGS: Changing Healthcare

17 Acknowledgements NGS Team –Eleanor Rattenberry –Kim Reay –Kirsten McKay –Lindsey Vialard –Anna Yeung –Hayley Bair Head of Cancer Programme –Jennie Bell, FRCPath Director of WMRGL –Professor Mike Griffiths


Download ppt "Genetics Technology: Next Generation Sequencing in Clinical Practice Dr Yvonne Wallis FRCPath Principal Clinical Scientist Head of Familial Cancer Services/"

Similar presentations


Ads by Google