GENOMICS: THE KEY TO TOMORROW S TREATMENTS? Jim Sullivan, PH.D. Vice President, Discovery AbbVie

Transcription

1 GENOMICS: THE KEY TO TOMORROW S TREATMENTS? Jim Sullivan, PH.D. Vice President, Discovery AbbVie Ideas that Change Healthcare, Kings Fund, 06/10/17 AXGOV Date ofpreparation: October 2017

2 Genomics Research: Questions That Keep Scientists Up at Night Why do some people get certain diseases while others don t? Why do treatments work for some patients but not others? How can I find a transformational medicine for patients with devastating diseases? Genomics Plays A Key Role in Answering These Questions 2

3 Genomics Research: 2003 and Today 2003: Completed the mapping of the human genome. It took more than a decade and $2.7 billion (U.S.) to map just one. Today, a complete human genome map can be developed in a couple of days for a mere fraction of the cost At home spit tests provide limited genetic information for about $70 3

4 UK Commitment to Genomics Genomics is not tomorrow. It s here today Now we need to welcome the genomic era and deliver the genomic dream! Dame Sally Davies Chief Medical Officer Annual Report 2016: Generation Genome Annual Report of the Chief Medical Officer 2016: Generation Genome, Chief Medical Officer, July Available at: 4

5 Why Genomics is so Important Alzheimer s Disease is an Emerging Global Crisis 115 million Alzheimer s patients by 2050 globally Cost of care in the US was $225 billion in It will be $1.1 trillion by 2050 Alzheimer s takes a heavy toll on caregivers Therapeutic options and treatments for Alzheimer s are limited: progress lags well behind successes in oncology, inflammation, metabolic diseases and cardiology Aging is the major risk factor for Alzheimer s and dementia 5

6 Genetics Has Informed Alzheimer s Disease Research Causes Alzheimer s PSEN1 APP PSEN2 Autosomal dominant All increase probability of Aβ deposition to 100% Risk of Alzheimer s High risk Med risk Low risk 3X TREM2 Microglial function APOE4 Aβ deposition/ clearance 8X APOE4 3X Lipid metabolism Microglial function Endocytic function GWAS INPP5D MEF2C HLA-DRB5 & DRB1 CR1 CWPW1 MS4A CASS4 BIN1 CELF1 PICALM FERMT2 CD33 PTK2B SORL1 SLC24A4 CD2AP EPHA1 EPHA1 CLU NME8 ABCA7 Very rare Frequency in the Population V Common 6

7 Why Genomics is So Important CANCER Genetic testing for families of increased risk (e.g. BRAC1) leading to increased screening or preventive surgery, targeted therapies (e.g. Her2, Bcl) RARE DISEASES Detailed molecular diagnosis for management and follow-up as well as alerting other family members. New treatment options for diseases including cystic fibrosis and spinal muscular atrophy Cardiovascular Disease Genetic risk factors (e.g., PCSK9) accelerate onset of disease 7

8 Genomics Can Accelerate the Development of New Medicines Drug targets with human genetic data are more successful in the clinic Targets with human genetic linkage have higher probability of success in clinic Nature Reviews Drug Discovery, 13, (2014) 8

9 So How Are We Participating? Multiple External Collaborations and Internal Data Exclusive partnership Disease specific database ~50k subjects (4 yrs) Greater Understanding of Disease Biology Consortium Population database 350k subjects (3 years) 500k subjects (6 years) Public Data and Consortia New Treatment Approaches Clinical trials genomic data 9

10 A Rapidly Aging World Population Young Children and Older People as a Percentage of Global Population ( ) Source: United Nations. World Population Prospects: The 2010 Revision. Available at: 10

11 Impact on Society Are the financial and health institutions and programs designed for the 20 th century appropriate for the 21 st? Aging is a major risk factor for chronic diseases Chronic disease account for ~75% of healthcare dollars in EU and US 11

12 So How Are We Participating? Calico and AbbVie Have Joined Forces to Explore New Aging Biology 12

13 Genomics Is Helping Us Unravel the Biology of Aging Integrative damage response Primary causes of tissue damage Responses to damage 0 Adapted from Cell 153, June 6,

14 Personalized Medicine: The Future of Treating Disease Old way: Disease diagnosis same one size fits all treatment for every patient New way: Tailored treatment to each patient based on genomic data and their disease 14

15 QUESTIONS?

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