Genomics: Two faces of a giant.

Myriam Borque

2015

Master in Advanced Genetics

INDEX

• Genomics: quick introduction.

• From genotype to phenotype.

• Genomics for the society and the ERH: Famous Advantages and the Dark Side.

• Future opportunities.

Genomics: Quick Introduction

History:>Mendel’s laws of heredity>Recognition of DNA as genetic material>DNA Structure>Genetic code >Recombinant DNA technologies>Automatic methods of DNA seq.

HUMAN GENOME PROJECT

Genomics: Quick Introduction

Cell GENOMEWhat is it? How does it work?

GENOMICS

DATA

DATA

From Genotype to Phenotype

DATA

prediction comprehension management

GENOTYPE - PHENOTYPE

Famous Advantages

I) Understanding the human being (HGP)II) Role of the genome in health/disease.

* Mendelian disorders * Ind. treatments * Other disorders * Diagnosis and Characterization

III) Personalized genomeintegration in healthcare - EHR

IV) Economic benefitCost effective processes

Famous AdvantagesEHR

(Electronic Health Record)

John S Mattick et al. (2014) The impact of genomics on the future of medicine and healt, MJA 201.

Famous Advantages

Σ Personal genomes + Population data set

↑↑ Health System Quality

GLOBAL ALLIANCE FOR GENOMICS AND HEALTH

The Dark Side

• EHR:– Personal Data

Storage? Microchip, in the cloud, function as a biometric?

– AccessOnly professionals? Governments? Private industries? Other sectors like insurance companies?

– Personal genomeWhen should we sequence? New borns stigmatization? Consent?Adults Too late for prognosis or early diagnosis?

SECURITY!

Future opportunities

• Right conditions for EHR stablishment

• ↑genotype-phenotype knowledge

• Create interdisciplinary professionals

• Improve accuracy of actual seq. methods

ReferencesJohn S Mattick et al. (2014) The impact of genomics on the future of medicine and healt. MJA 201.

Graeme N.Forrest et al.(2015) Use of Electronic Health Records and Clinica Decision Support Systems for antimicrobial Stewardship. Oxford Journals.

David S carrell et al. (2013) Respond to “Observational Research and the EHR”.American Journal of Epidemiology.

Brendam Delaney (2009) Evidence-based diagnosis in general practice: needs both robust evidence and sophisticated electronic health record systems. Family Practice from Oxford Journals.

Adele Caldarella et al. (2012) Feasibility of evaluating quality cancer care using registry data and electronic health records: a population- based study. International Journal for Quality in Health Care.

Jonathan P. Weiner et al. (2012) New paradigm for measuring clinical performance using electronic health records. International Journal for Quality in Health Care.

Other web sites.

The End