DNA stands for deoxyribonucleic acid. DNA is a molecule made up of four building blocks, represented by the letters A, T, G and C. These building blocks repeat in a meaningful code. The code is about 3 billion letters long and provides all of the instructions (genes) for how our body works.

Genes are the instructions for how our bodies work. We inherit our genes from our parents. Genes are made up of DNA.

The term “genome” refers to the entire set of genes that make up an organism. Humans have between 20,000 and 25,000 genes in each cell of the body. The study of all 20,000-25,000 genes at one time is called “genomics.”

Your genome is more than 99% identical to the genome of any other person anywhere in the world. Therefore, less than 1% of your genome differs from your neighbor’s. Differences in the genome are called genetic variants.

A genetic variant is a change or “typo” in the genetic code. The most common type of genetic variant is called a Single Nucleotide Polymorphism, or SNP (pronounced “snip”), in which one "letter" in the DNA is changed to another. Genetic variation is what makes each person unique. For example, you may have a “T” in the gene for eye color whereas other people have a “G”; this change may result in blue eyes instead of brown eyes. Some genetic variations, such as this eye color example, have no major health consequences. However, other variants can impact health. For example, genetic variants that elevate the risk for breast cancer or cause adverse reactions to certain medications.

Certain genetic variants can alter (decrease or increase) disease risk. However, having a genetic variant that increases disease risk, such as the risk of developing breast or prostate cancer, does not mean you will definitely develop that disease. Genetic variations are simply risk factors that contribute to disease – knowing your risk and understanding the significance may encourage you to take certain preventative measures to lower the chances of developing the disease.

Today, there are more than 11 million known genetic variants. The percentage of these that are actually medically relevant is unknown.

Personalized medicine is medical care based on the genetic makeup of a specific person.

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.

CLIA stands for Clinical Laboratory Improvement Amendment. This federal law ensures the accuracy and reliability of all medical laboratory testing. Although CLIA certification is not required for research laboratories, the CPMC™ chose to pursue this certification so that results from the CPMC™ could be returned to participants and physicians and potentially used as an additional tool in medical care.

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 diseases.

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.

There are three purposes of this study:

1. To determine the utility of receiving information about personal genetic variants that may influence your risk of potentially actionable conditions, such as diabetes, heart disease and cancer. A health condition is potentially actionable if: 1) a person or their healthcare provider could take some action to lower the risk of developing the condition, or 2) if the outcome of the condition can be improved through earlier diagnosis and earlier treatment. Participants will be given the opportunity to learn personal genetic variant information, after which time they will be asked to complete online surveys. These surveys will help us determine how this information may have influenced behavior and healthcare and if it has had a positive effect on the health of participants.
   
   
2. To identify and validate genes and genetic variants which elevate the risk of common complex diseases and alter response to particular medications. In addition, we will examine how multiple genetic variants and non-genetic risk factors interact in order to better assess a person’s risk of disease. Participants will be asked to complete online surveys annually that assess medical history, family history, medication history and lifestyle.
   
   
3. To make de-identified genetic, medical history, lifestyle and family history information available to biomedical researchers outside Coriell Institute. Information is “de-identified” by removing personal information (e.g., name, address, birth date) that could allow someone to identify who the information belongs to. The release of samples and data to researchers outside of Coriell is optional. Participants are asked to indicate their preference at the end of the study consent form.
   
   

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.

The CPMC™ is a research study that has been approved by an Institutional Review Board, whose mission is to review research studies involving human subjects to ensure that the rights of research participants are protected and that the research is conducted in an ethical manner.

The CPMC is a research study that provides participants with information about themselves. Many research studies ask for subjects to participate for the good of science while supplying little or no information back to participants.

The CPMC is not returning all personal genetic information back to participants but only variants that an external advisory board (the Informed Cohort Oversight Board) has deemed potentially actionable.

The CPMC is requiring participants to complete web-based surveys. After establishing an account on the web portal, participants will be asked to complete a series of questionnaires regarding their medical history, family history and lifestyle. Some of this information will be used to customize participant genetic variant reports, by adding information provided in the surveys (age, smoking status etc) that affects risk for a health condition.

Participants are given control of their personal genetic variant information and can opt to allow access to their genetic result data to physicians, CPMC genetic counselors or others.

Participants in the CPMC study can opt to release their de-identified genetic and medical history information to the biomedical research community.

The CPMC plans to enroll individuals with cancer through their healthcare provider as well as enroll participants from the general public through open informed consent sessions.

The CPMC is a longitudinal study. We will provide you will genetic variant results over time. We will ask you to provide us with updates to your medical history, family history and lifestyle every year. We will also ask you to tell us what you did with your CPMC results.

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 tomorrow's healthcare.

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 Collaborative™ , 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.

This study is completely voluntary. In order to take part in this study, you must:

• Attend an informed consent session
• Be at least 18 years of age or older
• Have a valid email address
• Be willing to provide a saliva sample for genetic testing
• Be willing to complete a questionnaire regarding your medical history, family history and lifestyle
• Be willing to complete follow-up questionnaires about what you did with the information you learned through your participation in this study

Participation in this study is expected to last a minimum of 5 years. There are no other ongoing obligations to participate and there is no charge to study participants.

Click here to register for an informed consent session.

Yes. Send date change requests to cpmc@coriell.org with your name and preferred new date (please check the website for availability).

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 cpmc@coriell.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 form.

There is no cost to individual participants. The Coriell Institute has raised money to cover the cost (approximately $1,000 per genome profile test) of this study.

Yes. You must be at least 18 years old to participate in the CPMC™.

In most cases, only once. Your genome and those sites of variation are with you from birth – therefore you only need to be tested one time. Occasionally, the amount of DNA obtained from a saliva sample is not enough to perform the genetic test. In these rare cases, participants will be contacted and asked to submit a second saliva sample.

You are free to withdraw your consent and discontinue your participation in the Coriell Personalized Medicine Collaborative at any time. You may choose to withdraw your saliva sample and DNA derived from it at any time and your sample(s) will be destroyed at that time. However, if you had previously given permission for your saliva sample and/or DNA sample derived from it to be de-identified and provided to other biomedical researchers and this had already occurred at the time you withdraw, we will not be able to destroy these sample(s). Any data generated from testing your sample or supplied by you until the point that you withdraw will remain part of the research study.

To make your results more personalized, you risk estimate information will take into account, whenever possible, the information you provided in your medical, family history and lifestyle questionnaires. It is important that you take your time when completing these questionnaires and fill them out as completely as possible. The more information you are able to provide, the more we will be able to give back to you in your personalized genetic result reports. Another reason we ask so many questions about your medical history, family history, and lifestyle is so that the data we collect during the study will be as informative as possible for scientists who are studying associations between genetic variants and diseases.

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.