Personalized medicine may eventually improve the effectiveness and lower the cost
of medical care. Instead of a "one size fits all" approach to treating disease,
care will be tailored to consider information about your personal genome, your DNA.
Today, this approach is not routine.
For example, in the future you could benefit from personalized medicine by having
a doctor decide to treat your breast or prostate tumor with drug A and not drug
B because drug A is more likely to be effective given the presence of specific genetic
variants in your genome. Additionally, knowing your potential risk factors for disease
may allow preventative measures to be taken before disease onset.
The Coriell Institute for Medical Research, based in Camden, NJ, is an internationally
known, non-profit biomedical research institution. In addition to conducting its
own research in mechanisms of genetic disorders, cellular differentiation and systems
biology, the Coriell Institute serves the scientific community by maintaining the
world's largest biobanking facility, which distributes cells and DNA specimens to
researchers around the world.
Under the leadership of President and CEO, Michael F. Christman, Ph.D., the Coriell
Institute has established a state-of-the-art genome center and formed partnerships
with several regional hospitals to enroll participant volunteers in the Coriell
Personalized Medicine Collaborative.
The Coriell Personalized Medicine Collaborative (CPMC) is an evidence-based research
study designed to determine the utility of using personal genome information in
health management and clinical decision-making. Personal genome information includes
information about genes that affect why people respond differently to medication
and may identify who is at increased risk for diseases such as diabetes, heart disease
and cancer. Although genomic testing is currently commercially available, the utility
of using this information in healthcare is still unknown. The CPMC aims to investigate
this utility. The study also hopes to understand why individuals respond differently
to treatments and to identify currently unknown genes that increase risk for complex
Participants will provide a saliva sample for analysis of genetic variants. Participants
will be asked to provide and annually update information about their medical history,
family history and lifestyle via a secure online web portal account. All participants
will be able to control access to their genetic result profiles and will have the
option to view and share their results for potentially actionable genetic variants
through the secure web-based system. Participants will be asked to complete surveys
to assess what they did with their genetic results (e.g., shared them with a healthcare
provider or family/friends, had medical evaluation or tests, changed behaviors to
minimize a risk for disease) and how they felt about their genetic results.
A variety of educational materials will be available on the CPMC website to help
participants understand genomics, learn more about health conditions they may be
at risk for, and to obtain anticipatory guidance prior to viewing genetic result
information. Participants may also speak with a CPMC genetic counselor about their
results in person or over the phone, before and/or after viewing results, at no
cost. Additionally, seminars on health conditions for which gene variant results
have been released will be held locally to further the educational outreach of this
personalized medicine project.
This is the same research study. The Delaware Valley Personalized Medicine Project
was renamed the Coriell Personalized Medicine Collaborative to better reflect the
study's collaborative focus, as well as to position the project for future growth
beyond the Delaware Valley.
Coriell's initial goal is to enroll 10,000 individuals by the end of 2009 with an
ultimate goal of 100,000 participants.
Coriell has formed partnerships with several regional hospitals and healthcare service
providers to enroll participant volunteers in the CPMC. Visit our
Collaborative Partners page to learn more about our partnering institutions.
The primary goal of involving medical professionals is to facilitate understanding
of genome-informed medicine by those at the front lines of healthcare delivery.
Medical professionals have a profound impact on patients' lives each and every day,
and this study presents a remarkable opportunity to further influence today's and
Since there is no charge for individuals to participate in the CPMC, Coriell must
raise funding to support the research study. Thus far, large and small donations
as well as research grants have allowed Coriell to secure funding for the first
10,000 participants. Significant gifts have been received from the William G. Rohrer
Charitable Foundation, RNR Foundation, Archer and Greiner Foundation, Mrs. Eleanor
K. Read, Mr. and Mrs. Daniel J. Ragone, Fraternal Order of Eagles, Peter E. Driscoll,
Esq., and Dr. and Mrs. Arnold E. Denton. Without the support of these organizations
and generous individual donors, this research study would not be possible. If you
are interested in learning more about supporting the Coriell Personalized Medicine
please click here. There is no requirement for participants in the
CPMC to make any monetary donation. Whether or not you choose to support the project
is completely voluntary.
The technology required to profile genomes has advanced dramatically in the past
few years such that it is now cost effective. In addition, several very important
scientific studies have been completed that provide a critical foundation without
which personalized medicine would not be possible. These are the human genome sequencing
project, the SNP consortium and the HapMap project. Together, these initiatives
have defined the human genome and identified the letters in the genome that are
different among individuals. The advent of personalized medicine is made possible
by the tremendous success of these studies.
In general, no. The genetic testing performed for CPMC participants looks at common
genetic variants that contribute to the risk of developing common complex diseases
such as heart disease, type 2 diabetes and cancer. The testing performed for CPMC
participants does not and can not diagnose these conditions. The benefits of genetic
testing for these types of diseases are not well understood at this time (a major
goal of the CPMC study). As a result, the type of genetic testing performed in the
CPMC is not generally offered through a healthcare provider's office.
Healthcare providers often order genetic tests to look for rare single-gene (Mendelian)
disorders such as sickle cell disease, cystic fibrosis and Tay-Sachs disease. The
technology employed by the CPMC is not designed to detect single-gene mutations
that cause rare genetic disorders; therefore, these are very unlikely to be detected
and reported to you. Participation in the CPMC does not replace testing ordered
or recommended by your healthcare provider.
Potentially. Adopted individuals often do not know their birth parents and thus,
are unaware of genetic risks that they may have inherited. An adopted person who
chooses to participate in the CPMC may be able to learn something about his or her
genetic risks for disease. However, knowledge of one or several genetic variants
alone – in the absence of family history data – can limit the ability to accurately
predict an individual’s susceptibility to complex disease.
No. Currently, and as part of the CPMC informed consent process, an individual must
attend an informed consent session at the Coriell Institute or a community location
to learn about the study, sign a consent form and submit a small saliva sample.
The CPMC was approved by an Institutional Review Board with the specification that
each participant must have his or her own personal email address. In order to receive
updates regarding the study and have access to your results you must provide us
a unique email address. For instructions on how to obtain a free email addresses,
please email firstname.lastname@example.org.
A copy of the consent form is available on our website through the informed consent
section of "How it Works". For more information about the study please see
"About the Study" . The enrollment presentation is not available online; however, a variety
of educational materials about genetics and the diseases covered by the CPMC are available in both text and streaming video format.
Research regulations require that you re-consent any time there have been significant
changes made to the consent form. The consent form now provides additional details
about the medical history, family history, and lifestyle questionnaires. We have
also updated the informed consent document to provide you with more information
on the types of results you will and will not receive and we provided more details
on the benefits and risks of study participation. In addition, we have added a Health
Insurance Portability and Accountability Act (HIPAA) authorization section which
tells you what we can and can't do with your private health information. We started
using the updated consent form in enrollment sessions in mid-November, 2008. Depending
on your date of enrollment, you may or may not be required to complete a new consent
Shortly after you enroll, you will receive an email from the CPMC team with a link
to activate your account. Click on the link. You will be prompted to come up with
a username and password for your CPMC account. You will only use the emailed link
for your account activation. After activating your account, visit http:\\cpmc.coriell.org
and enter your username and password to access your CPMC account.
The CPMC project is launching in two phases. The first phase of the launch occurred
in January 2009, when participants were sent an account activation email and then
began completing their online health questionnaires.
The second phase of the project began in March 2009.
Starting in March 2009 results were released to participants who had activated their accounts and completed their health questionnaires.
The CPMC team will keep you informed of the study's progress and the release of new results via email.
Genetic results will be updated on the web portal at least twice a year, meaning
new genetic information will be available about your personal genome in the coming
months and years.
Your information will be viewed via a secure, web-based system. As a CPMC participant
you will log into your personal CPMC account using your email address and a password.
The Informed Cohort Oversight Board (ICOB), headed by Dr. Erin O’Shea of Harvard
University, is a scientific advisory panel that will determine the genetic variants
for which results will be made available to participants. This review panel will
meet at least twice per year and consists of medical professionals, scientists,
ethicists and community members. Criteria for the approval of a genetic variant
will include factors such as validation of the risk for disease associated with
the variant by multiple studies and the availability of existing medical or lifestyle
interventions known to improve health. The decisions of the ICOB will be posted
on the CPMC blog, GPS for your Genes.
Yes. Results of genetic testing will be released over time as genetic variants are
approved by the ICOB. Initially, you will learn about a handful of genetic variants
but the list will grow over time to include many conditions. You will be able to
access your genetic results (including all updates) through your personal CPMC account.
This study will only report back to participants those genetic variants that are
associated with diseases that are potentially actionable. Genetic variants are selected
based on the following criteria: 1) there is a scientifically valid association
between the variant and a specific health condition, 2) there are actions or interventions
that can be taken to reduce the risk of developing a health condition or facilitate
the earlier diagnosis and improved treatment of a health condition, and 3) the risk
of adverse events from these possible interventions is likely small in relation
to the risk associated with the genetic variant if no action is taken. Actions to
reduce risk may include, but are not limited to: changes in lifestyle, increased
screening, and use of medication. Examples of diseases that are believed to be potentially
actionable include colon cancer, heart disease and type 2 diabetes.
You WILL NOT receive results for all genetic variants. Genetic variants associated
with medical conditions for which there is no treatment or intervention to reduce
the risk of disease or improve the disease course WILL NOT be reported back to participants.
For example, variants elevating risk for incurable diseases such as amyotropic lateral
sclerosis (ALS/Lou Gehrig’s disease) are unlikely to be considered actionable by
the ICOB. If a new therapy or lifestyle intervention is reported, the ICOB may update
a condition to be potentially actionable.
The technology employed by the CPMC is not designed to detect single-gene mutations
that cause rare genetic disorders such as sickle cell disease, cystic fibrosis and
Tay-Sachs; therefore, these are very unlikely to be detected and reported to you.
You will be able to speak with a CPMC genetic counselor before and/or after choosing
to view your results at no cost to you during your participation in the study. Genetic
counseling can help clarify your genetic risk based on your CPMC results but CANNOT
provide a medical diagnosis. For a medical evaluation, please see your regular healthcare
provider. You will be able to contact a CPMC genetic counselor through the web portal.
In order to schedule an appointment with a CPMC genetic counselor you will be prompted
to release your personal genetic variant results to the CPMC genetic counselor,
who will treat all of your information as confidential. The genetic counselor may
ask you to release some portion of your medical records to help in assessing your
overall risk of the condition for which you seek counseling.
You have the option to view or NOT to view each genetic variant individually. Thus,
you may choose NOT to view your personal genetic variant information for diseases
about which you may be anxious. In addition, you will have the opportunity to meet
with or speak with a genetic counselor to discuss any questions or concerns you
may have regarding your genetic variant information. You may elect to meet with
a genetic counselor before making a decision to view a genetic variant result.
About three months after you have viewed your personal genetic variant information,
you will be sent an email requesting that you complete a questionnaire to assess
what you did with your genetic variants results (e.g., whether you shared them with
your healthcare provider or your family/friends, whether you saw your healthcare
provider or had any medical tests because of your genetic results, whether you changed
your behavior in any way, and whether or not the results made you feel anxious).
This is the outcomes research portion of the CPMC study described to you in the
informed consent document. Your responses to these questionnaires are vital to the
overall study, as this will help CPMC scientists determine how useful the return
of genetic information really is to participants’ health management.
Throughout your participation in the CPMC we may send you additional questionnaires
about your knowledge of genetics, your health, behavior or feelings. Completion
of these additional questionnaires is voluntary.
By enrolling into the CPMC, a limited number of research scientists and project
managers running the study will have access to participant information. However,
you will be known to them only by a de-identified barcode number from which they
are unable to identify you personally.
Your results will NOT be shared with anyone, including your doctors, family, friends,
employer, insurance company or anyone else, without your permission.
Participants will control access to their genetic variant information through a
secure web portal. For each genetic variant, participants will be able to decide
for themselves whether to view the information and whether they would like to share
the information with their healthcare provider or family/friends. To access shared
results, individuals designated by you will need to set up their own account on
the web portal. These designated individuals will only be able to view the specific
genetic variants that you authorize them to see. If another participant invites
you to view their personal genetic variant information, you will receive an email
with instructions on how to accept the invitation and view these results.
With your permission, your sample and/or the genetic data generated from it may
be de-identified (stripped of personal identifiers such as your name and address
and assigned a new barcode using a series of numbers and letters) and shared with
other biomedical researchers. Non-profit groups often request de-identified data
for research purposes such as discovery of new genetic associations. For-profit
companies often request de-identified data to pursue company objectives, which may
include development of diagnostic lab tests, or pharmaceutical therapies that could
benefit many people. Your preferences can be defined as you enroll in the study
and you may choose to withhold your de-identified data from distribution. You will
not receive any direct benefit by releasing your de-identified sample and/or the
genetic data to other biomedical researchers.
Although every effort is made to keep the results of your genetic testing confidential,
breeches in confidentiality may occur. To protect your information, we will not
keep your name and address with your sample, only a unique barcode number. Files
that link your name to the barcode will be kept separate and secure and only the
CPMC Team will be allowed to look at them. If you choose to release your personal
genetic variant information to others, Coriell cannot guarantee the confidentiality
of this information. The effect of your decision to release this information to
third parties is not currently known. New Jersey and some other states have laws
to minimize these risks.
Any information we obtain about you during this study will be treated as confidential
to the full extent permitted by applicable law. New Jersey State Law provides protection
against discrimination on the basis of genetic information by employers and health
insurance companies. New Jersey State Law may offer added protection in addition
to any Federal laws that may be in place
No. Coriell Institute has been granted a Certificate of Confidentiality under a
federal law (Section 301(d) of the Public Health Service Act). This means that the
records of this study may not be disclosed, under federal, state or local court
order, without your written approval. Data that are protected by a Certificate of
Confidentiality may be disclosed to the Department of Health and Human Services
if required for audits of research records.
Coriell Institute for Medical Research
403 Haddon Avenue | Camden, NJ 08103
Phone: 856-966-7377 | Fax: 856-964-0254
© 2012 Coriell Institute. All rights reserved.