GENOMICS: THE KEY TO TOMORROW’S TREATMENTS? · Genomics Can Accelerate the Development of New...
Transcript of GENOMICS: THE KEY TO TOMORROW’S TREATMENTS? · Genomics Can Accelerate the Development of New...
GENOMICS: THE KEYTO TOMORROW’S TREATMENTS?Jim Sullivan, PH.D.Vice President, DiscoveryAbbVie
Ideas that Change Healthcare, Kings Fund, 06/10/17AXGOV171426Date of Preparation: October 2017
Genomics Research: Questions That Keep Scientists Up at Night
2
Why do treatments work for some patientsbut not others?
Why do some people get certain diseases while others don’t?
How can I find a transformational medicine for patients with devastating diseases?
Genomics Plays A Key Role in Answering These Questions
Genomics Research: 2003 and Today
• 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
2003: Completed the mapping of the human genome. It took more than a decade and $2.7 billion (U.S.) – to map just one.
3
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 DaviesChief Medical OfficerAnnual Report 2016: Generation Genome
Annual Report of the Chief Medical Officer 2016: Generation Genome, Chief Medical Officer, July 2017. Available at: https://www.gov.uk/government/uploads/system/uploads/attachment_data/file/631043/CMO_annual_report_generation_genome.pdf
4
• 115 million Alzheimer’s patients by 2050 globally
• Cost of care in the US was $225 billion in 2015. 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
Why Genomics is so ImportantAlzheimer’s Disease is an Emerging Global Crisis
5
Genetics Has Informed Alzheimer’s Disease Research
6
TREM2 APOE4
APOE4
PSEN1
APP
PSEN2
Frequency in the Population V CommonVery rare
Causes Alzheimer’s
High risk
Med risk
Low risk
Risk
of A
lzhe
imer
’s
EPHA1
3X
8X
3XINPP5D MEF2C
HLA-DRB5 & DRB1 CR1 CWPW1 MS4A CASS4 BIN1
CELF1 PICALM FERMT2 CD33PTK2B SORL1 SLC24A4
CD2AP EPHA1 CLU NME8 ABCA7
Autosomal dominant
GWAS
All increase probability of Aβ deposition to 100%
Aβ deposition/clearance
Microglial function
Lipid metabolismMicroglial functionEndocytic function
Why Genomics is So Important
Cardiovascular Disease Genetic risk factors (e.g., PCSK9)accelerate onset of disease
RARE DISEASESDetailed 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
CANCERGenetic testing for families of increased risk (e.g. BRAC1) leading to increased
screening or preventive surgery, targeted therapies (e.g. Her2, Bcl)
7
Genomics Can Accelerate the Development of New Medicines
• Drug targets with human genetic data are more successful in the clinic
8
Nature Reviews Drug Discovery, 13, 419-431 (2014)
Targets with human genetic linkage have higher probability of success in clinic
So How Are We Participating?Multiple External Collaborations and Internal Data
Exclusive partnershipDisease specific database ~50k subjects (4 yrs)
ConsortiumPopulation database350k subjects (3 years)500k subjects (6 years)
Clinical trials genomic data
Public Dataand
Consortia
Greater Understanding
of Disease Biology
New Treatment Approaches
9
A Rapidly Aging World Population
Young Children and Older People as a Percentage of Global Population (1950–2050)
Source: United Nations. World Population Prospects: The 2010 Revision. Available at: http://esa.un.org/unpd/wpp.
10
Impact on Society
• Are the financial and health institutions and programs designed for the 20th century appropriate for the 21st?
• Aging is a major risk factor for chronic diseases– Chronic disease account for ~75% of
healthcare dollars in EU and US
11
So How Are We Participating?Calico and AbbVie Have Joined Forces to Explore New Aging Biology
12
Adapted from Cell 153, June 6, 2013
0
Responses to damage
Integrative damage response
Primary causes
of tissue damage
Genomics Is Helping Us Unravel the Biology of Aging
13
New way:Tailored treatment to each patient based on genomic data and their disease
Personalized Medicine: The Future of Treating Disease
•
Old way:Disease diagnosis –same “one size fits all” treatment for every patient
14
QUESTIONS?