CENTER FOR

INDIVIDUALIZED
MEDICINE
Biorepositories Program
Stephen Thibodeau, PhD, FACMG

2012 MFMER | slide-#

Center for Individualized Medicine

Translational Programs
Pharmacogenomics

Biomarker
discovery

Clinomics

Epigenomics

Microbiome

Biorepository

Medical
Genome Facility

Information
Technology

Infrastructure
Programs

Biomedical
Informatics

Bioethics

Administration
Center for INDIVIDUALIZED MEDICINE

2012 MFMER | slide-#

CIM - Biorepositories Program

Center for INDIVIDUALIZED MEDICINE

2012 MFMER | slide-#

Mayo Clinic Biorepositories

What is a biorepository?
Collection of biologic samples, typically blood, tissue,
urine, stool, but can be any patient material.
Information about the sample
Associated clinical information about the patient at the
time of collection

Why are biorepositories important?

Central to discovery and translational research for all
human disease
Understanding the basis of disease
Improved methods for detection, prognosis, prediction
and treatment
Center for INDIVIDUALIZED MEDICINE

2012 MFMER | slide-#

Mayo Clinic Biorepositories

Not new!
Specimen collection ongoing for more than 100
years.
Paraffin embedded tissue from specimens removed at
surgery have been archived from the beginning

Large number of investigator-driven diseaseoriented collections for blood and tissue

Cancer
Neurologic disorders
Cardiovascular disease
Etc.
Center for INDIVIDUALIZED MEDICINE

2012 MFMER | slide-#

Biorepository Program - Goals

Help as many Mayo investigators as possible
to support their research programs
Increase competitiveness of Mayo
Investigators for national grants (NIH)
Accelerate research, discovery and translation
into clinical practice
Prepare Mayo for the future of Medicine
Center for INDIVIDUALIZED MEDICINE

2012 MFMER | slide-#

Biorepository Program
Infrastructure Establish and manage a
comprehensive and state-of-the-art facility for the
collection, processing, storage, distribution, and
management of high-quality biospecimens.
Collections Establish and manage several
biorepositories composed of high quality clinicallyannotated biospecimens.

Center for INDIVIDUALIZED MEDICINE

2012 MFMER | slide-#

Infrastructure
Facilities at three Mayo Clinic sites
Minnesota, Florida and Arizona

Biospecimen Accessioning and Processing (BAP)

Provides processing of all types of biologic samples,
including kit building, accessioning, processing, storage,
distribution and management of samples.

Pathology Research (PRC)

Provides histology-related services, including
immunohistochemistry, tissue microarray construction,
digital imaging, and laser capture microdissection.

Center for INDIVIDUALIZED MEDICINE

2012 MFMER | slide-#

BAP Services & Volumes/Year

Service

Number

Type

Accessioning
56,814 Collection events
Aliquoting, Automated 216,000 Tubes Created
Aliquoting, Manual
144,000 Tubes Created
Pull from Storage
24,893 Tubes
Return to Storage
23,648 Tubes
Plating
514 Plates
DNA/RNA Extraction
26,000 Samples
NA Quantification
32,000 Samples
Circulating tumor cells
1,500 Samples
Kits
4,000 Kits made
Total Storage
2,500,000 Tubes

Center for INDIVIDUALIZED MEDICINE

2012 MFMER | slide-#

PRC Services & Volumes/Year

Service

Number

FFPE Sectioning
85,000
Frozen Sectioning
20,000
IHC Optimization
80
IHC Staining
15,000
Laser Capture Microdissection
200
Imaging - TMA Sections
500
Imaging - Whole Tissue Sections
4,500
Re-Embedding (non clinical blocks) 500
TMA Construction
50
Center for INDIVIDUALIZED MEDICINE

2012 MFMER | slide-#

Storage and Sample Management

Conventional and liquid
nitrogen Freezers
Robotically controlled freezers
1 Brooks robotic freezers
0.6 Million tube capacity
Hamilton Bios
3.5 Million tube capacity
Room for 10M expansion
Develop robust disaster plan

Rochester

Center for INDIVIDUALIZED MEDICINE

2012 MFMER | slide-#

New Facility - Goals

Centralize facility for sample processing,
storage and management
Standardize operating procedures
Improve quality
Improve efficiencies
One stop shop!
Center for INDIVIDUALIZED MEDICINE

2012 MFMER | slide-#

Mayo Clinic Biobank

Center for INDIVIDUALIZED MEDICINE

2012 MFMER | slide-#

Mayo Clinic Biobank

A CIM initiative launched in 2007
To enroll 50,000 Mayo patients regardless of their health
history (no specific disease)
To provide an institutional resource for a wide array of
health-related research and clinical studies

A new way to conduct research at Mayo

Risk factor data, medical records and specimens to be used
in multiple studies
Each study has its own IRB approval
No re-consenting for each study
Results incorporated back into the Biobank for reuse
Center for INDIVIDUALIZED MEDICINE

2012 MFMER | slide-#

Consent Form
Allows for use of specimens and data in
unlimited studies (registry consent)
Allows for past and future access to medical
record
Allows for future contact (up to 2x/year)
Certificate of Confidentiality
Plans for longitudinal collections
Center for INDIVIDUALIZED MEDICINE

2012 MFMER | slide-#

Health History Questionnaire

Topics

Demographics
General health status
Quality of life
Personal & family
medical history
Female & male health hx
Health behaviors
Environment

Center for INDIVIDUALIZED MEDICINE

2012 MFMER | slide-#

Blood Sample
3 - 10 ml EDTA tubes
For DNA, buffy coat, plasma
Some of these to be spun twice to obtain plateletfree plasma
1 - 10 ml no additive (for serum)
1 - 4.5 ml Sodium Citrate (for plasma)
For a subset of subjects (~ 2000)
1 - 6 ml Sodium Heparin tube (for slow-freezing)

Center for INDIVIDUALIZED MEDICINE

2012 MFMER | slide-#

50,000 Consented
Female
58%

Male
42%

Dakotas 1%

Other US 15%

WI
4%
IA
6%

Rest
of
MN
16%

SE
MN
17%

Olmsted
40%

Center for INDIVIDUALIZED MEDICINE

2012 MFMER | slide-#

Community Advisory Board

CAB was developed to guide Biobank activities

Activities of CAB:

Advise on management and operation of biobank(s)

Review policies governing access to research samples
Evaluate patient materials
Suggest plans for community education
Consider complex policy decisions such as return of
results to participants

Center for INDIVIDUALIZED MEDICINE

2012 MFMER | slide-#

Education / Communication
Web sites
Just search Mayo Clinic Biobank
External for participants
http://mayoresearch.mayo.edu/biobank/
Internal for clinicians and investigators
http://mayoweb.mayo.edu/biobanks/controls-collection.html

Newsletters
and Fall

Spring

Videos

Center for INDIVIDUALIZED MEDICINE

2012 MFMER | slide-#

Projects Using the Biobank

Over 150 projects approved (6-2013)
~72,000 total samples/data requested
Example Controls for Case-Control Studies (DNA):
CLL (N=500), Susan Slager
Breast Cancer (N=1000), Fergus Couch
Myeloma (N=1000), Celine Vachon
Glioma (N=500), Robert Jenkins
Colon Cancer (N=500), Lisa Boardman
Peripheral arterial disease (N=2,000), Iftikar Kullo
Resistant hypertension (N=230), Iftikar Kullo
Example Controls for sequencing studies
PKD (N=250), Peter Harris (return of results)
Full exomes (N=90), Steve Thibodeau
Center for INDIVIDUALIZED MEDICINE

2012 MFMER | slide-#

Whole Genome Sequence

Why Mayo? Why now?
One of the largest collections in the country with
ongoing access to detailed medical records
The power and cost of sequencing continue to
improve
Will be necessary to fill an enormous gap in our
understanding of the human genome and of human
health and disease

Center for INDIVIDUALIZED MEDICINE

2012 MFMER | slide-#

Whole Genome Sequence

Benefit to Mayo
Generate an enormous amount of information on health and
disease that can be used for discovery
Data can be used by an ever growing number of investigators,
over and over again
Crucial for CIM and Mayo to be competitive in the coming years.
Continue to place Mayo Clinic and CIM in a leadership position
at a national level (NIH and White House initiatives)
Develop novel diagnostics, novel clinical assays, and improved
ability to predict the occurrence of disease and disease outcomes

Center for INDIVIDUALIZED MEDICINE

2012 MFMER | slide-#

Center for INDIVIDUALIZED MEDICINE

2012 MFMER | slide-#

Questions and Discussion

2012 MFMER | slide-#

Principles for Use of Biobank

Projects approved by Mayo Clinic Institutional
Review Board
Peer-review of projects to assure high-quality
science
Samples are only given for a specific purpose and
amount required for study
Researchers do not know the identity of the
participant anonymous
Study data are returned to the Biobank
Center for INDIVIDUALIZED MEDICINE

2012 MFMER | slide-#

Strengths
Embedded in Mayo clinical practice
Takes advantage of general medicine patient populations
cost effective
Most participants have a long length of time in the medical
record
Leverages the EMR and Natural Language Processing
research at Mayo
Robust ethics and community input
Can interface with the Rochester Epidemiology Project
Re-use of data
Center for INDIVIDUALIZED MEDICINE

2012 MFMER | slide-#

Biobank Participant Data

The 10 most common prevalent diseases by self-report included:

- hyperlipidemia (41%)
- hypertension (38%)
- osteoarthritis (30%)
- gastro-esophageal reflux disease (26%)
- cataracts (24%)
- depression (22%)
- abnormal distance vision (21%)
- migraine (18%)
- anxiety (17%)
- sleep apnea (15%)

The 5 most common prevalent cancers include:

- non-melanoma skin cancer (14%)
- prostate cancer (12%)
- breast cancer (4%)
- melanoma (3%)
- colorectal cancer (1.4%).

Center for INDIVIDUALIZED MEDICINE

2012 MFMER | slide-#