Genetics and Personalized Medicine
What is personalized medicine?
Personalized medicine is medical care based on specific information about the individual, such as genetic information or family history, rather than general healthcare guidelines applied to everyone in a population. For example, offering early colon cancer screening to individuals with a family history of colon cancer or a specific risk variant is personalized medicine, compared to the standard of offering everyone in the population colon cancer screening at age 50.
What does it mean if I have a genetic variant for a specific disease?
Certain genetic variants are associated with an altered (decreased or increased) disease risk. The variants included in the CPMC are associated with common complex diseases (such as heart disease or diabetes) but do not actually cause disease. This means that the variants included in the CPMC have been shown in large research studies to occur more often in people with specific diseases and suggest that people who have those variants have an increased risk of disease. 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.
How many genetic variants are currently known?
Today, there are more than 11 million known genetic variants. The percentage of variants that are actually medically relevant is unknown.
How much does my genome differ from my neighbor's?
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 neighbors. Differences in the genome are called genetic variants.
About Coriell and the Coriell Personalized Medicine Collaborative (CPMC) Research Study
What is the Coriell Institute?
The Coriell Institute for Medical Research, based in Camden, NJ, is an internationally known, non-profit biomedical research institution. For more information on Coriell, click here. 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, PhD, 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.
What is the Coriell Personalized Medicine Collaborative (CPMC)?
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, as well as information about the risk for diseases such as diabetes, heart disease and cancer. There are more than 8,500 participants enrolled in the CPMC research study.
How is the CPMC different from commercial organizations currently providing personal genetic information to individuals?
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. Unlike organizations that charge for direct-to-consumer genetic testing, the CPMC provides genotyping services to research participants free-of-charge in order to evaluate the utility of personal genomic information in healthcare.
What information does the CPMC Study return to participants?
The CPMC study returns only potentially actionable health conditions. 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. For each personalized result made available through the study, participants are 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.
What other institutions are collaborating with Coriell on the CPMC?
Coriell has formed partnerships with several healthcare service providers and research centers to enroll participant volunteers in the CPMC, including the United States Air Force. Visit our Collaborative Partners page to learn more about our partnering institutions.
How is the CPMC Research Study funded?
Since there is no charge for individuals to participate in the CPMC, Coriell must raise funding to support the research study. Significant funds have been received from the 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. In addition, grant funding has been received from the United States Air Force, National Institutes of Health, the W.W. Smith Foundation, William G. Rohrer Charitable Foundation, and the RNR Foundation. Without the support of these organizations and generous individual donors, this research study would not be possible. Learn more about supporting the Coriell Personalized Medicine Collaborative.
Why hasn't this type of personalized medicine study been done before?
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 such studies.
Does the CPMC test for the same genetic disorders that my doctor would?
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 used by the CPMC is not designed to detect gene changes 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.
The genetic testing performed for CPMC study 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.
Can the CPMC benefit adopted individuals?
Adopted individuals often do not know their birth parents and thus, may be 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.
Participating in the Coriell Personalized Medicine Collaborative (CPMC)
Can I participate in the CPMC?
Participation in the CPMC study is completely voluntary. Click here to view current eligibility criteria.
How much does it cost to participate?
There is no cost to participants.
How often do I need to provide a saliva sample?
In most cases, just once. Your genome is not expected to change over time – therefore you only need to be tested one time. Occasionally, the amount of DNA obtained from your saliva sample is not enough to perform genetic testing. In these rare cases, CPMC participants will be contacted and asked to submit a second saliva sample.
Can I withdraw from the CPMC once I am enrolled?
You are free to withdraw your consent and discontinue your participation in the Coriell Personalized Medicine Collaborative at any time. At the time of withdrawal you will be asked if you want to stop receiving results, but allow your sample to be used for future research or if you would like your sample destroyed. If you had previously given permission for your saliva sample and/or DNA sample to be de-identified and shared with other 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.
Why do I need to complete the detailed medical history, family history and lifestyle questionnaire?
To make your results more informative, your risk estimate information will take into account, whenever possible, the information you provide in your medical, family history and lifestyle questionnaires. It is important that you take your time when answering these questionnaires and fill them out as completely as possible. The more information you provide the more comprehensive your personalized genetic result reports will be. We also ask so many questions about your medical history, family history, and lifestyle 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.
How can I share my CPMC results with my doctor?
CPMC participants are encouraged to share their results with their doctors. To share your results, you can print out a copy of each CPMC report you would like to share. To print your reports:
- Sign in to your CPMC account
- Scroll down to "My Genetic Results". There is a button to the right of each result that says "Print Report".
- Click on the "Print Report" button. The printable version of your report will open in a new window.
- Click on "Print Report" at the top of this page to print your report.
- While viewing a CPMC report, you can also click on the "Print Report" tab in the upper right hand corner of your report to print your results.
Accessing My Personal Genetic Information
How do I access my CPMC account?
Shortly after you enroll, you will receive an email from the CPMC team with a link to activate your web portal account. Click on the link and you will be prompted to create a username and password for your CPMC account as well as a security question in case you forget your password in the future. You will only use the emailed link for your account activation. After activating your account, visit https://cpmc.coriell.org and enter your username and password to access your CPMC account.
When and how will I receive my personalized risk reports?
After completing your health questionnaires, your saliva sample will be moved into the laboratory for genetic testing. Approximately 8-12 weeks later, you will receive an email notification that new results are available to you. Each time a new result is available you will receive an email notification. In order to view your results, you must log into the CPMC web portal. Results are not provided within these emails.
How do I access my personal genome profile?
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 user name and a password that you created.
What is the Informed Cohort Oversight Board?
The Informed Cohort Oversight Board (ICOB), consisting of medical professionals, scientists, ethicists and community members, is a scientific advisory panel that determines the genetic variants for which results will be made available to CPMC participants. The board meets at least once per year. Criteria for the approval of a genetic variant include factors such as strength of the data connecting the genetic variant to the disease, and the determination that the disease is potentially actionable.
Will I receive updates or new information about my personal genetic results?
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 through your personal CPMC account.
What type of personal genome information will be returned to me?
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 learning risk may lead to an 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.
What type of personal genome information will NOT be returned to me?
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 amyotrophic 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.
What if I need help understanding my results?
Board certified CPMC genetic counselors are available to speak with you at any time during your participation in the study. There is no cost to speak with a CPMC genetic counselor. 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 primary healthcare provider.
What if I do not want to know about certain risk factors?
You have the option to view or not to view each risk report individually. 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 or at any time during your participation in this study.
Will the CPMC request that I complete various questionnaires in the future?
About three months after you have viewed your personal genetic variant information, you will receive an email requesting that you complete a questionnaire to assess what you did with your personalized 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 and help CPMC researchers determine how useful the return of genetic information really is to participants' health management.
Privacy and Ethical Considerations
Who has access to my genome profile?
CPMC participants control access to their CPMC information through the secure web portal. Your results will not be shared with anyone (doctors, family, friends, employer, insurance company or anyone else) without your permission. In addition, a limited number of Coriell researchers and project managers running the study have access to participant information.
Your de-identified data and or sample is shared with outside researchers only if you give permission to share your de-identified data and sample (stripped of personal identifiers such as your name and address and assigned a new barcode using a series of numbers and letters) on your consent form. You may update your preferences for sharing through the web portal.
Why would researchers want my sample or data?
Non-profit groups often request de-identified data for research purposes, such as research looking for new genetic associations with disease. For-profit companies often request de-identified data to pursue, for example, the development of diagnostic lab tests, or pharmaceutical therapies that could benefit many people.
Will I benefit from sharing my sample with researchers?
You will not receive any direct benefit by releasing your de-identified sample and/or the genetic data to other biomedical researchers.
What privacy risks are there associated with participating in the CPMC Study?
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. The only link between your personal identifying information and your sample will be a unique barcode.
What discrimination risks are there associated with participating in the study?
Any information we obtain about you during this study will be treated as confidential to the full extent permitted by applicable law. In addition, the Genetic Information Nondiscrimination Act of 2008, also referred to as GINA, is a federal law that protects Americans from being treated unfairly because of differences in their DNA that may affect their health. The law prevents discrimination from health insurers and employers. The law does not cover life insurance, disability insurance and long-term care insurance. This law does not apply to members of the military with respect to insurance provided through the military and military service; however GINA does apply to military personnel in their civilian life (health insurance or employment obtained outside of the military).
Can the Coriell Institute be compelled by a court of law to disclose my CPMC results?
Coriell has obtained a Certificate of Confidentiality from the National Institutes of Health which protects research participants' confidentiality by allowing the investigator and others who have access to research records to refuse to disclose identifying information generated as part of this research study, in any civil, criminal, administrative, legislative, or other proceeding, whether at the federal, state, or local level.
Although having a Certificate of Confidentiality in place is believed to add an additional layer of privacy protection (the use of this protection is for all participants (civilian and military)), the protections associated with a Certificate of Confidentiality have not been tested in a military setting and therefore cannot be guaranteed.
USAF Specific FAQs
Why do you need my social security number or DoD CAC card number?
The overarching goal of the CPMC and USAF personalized medicine research study is to evaluate the usefulness of genetic information in clinical decision-making and health management. To support this research aim, the CPMC obtains data from online surveys and participant medical records, which have been linked through your DoD CAC or social security number. These self-reported and clinical data allow for researchers to determine if your risk reports have impacted your health.
For example, if you were reported to have an increased risk for coronary artery disease, you might be motivated to change lifestyle behaviors to decrease your risk. You would be able to report these changes back to the CPMC researchers via outcome surveys, but researchers could also identify changes in your cholesterol and blood pressure levels during a routine medical exam as documented in your medical records.
Can my family members enroll in the study?
Spouses of an active duty member or retiree of the Air Force can enroll in the study, so long as the individual is a TRICARE Prime beneficiary; is Defense Enrollment Eligibility Reporting System eligible; and enrolled at a United States Military Treatment Facility.
Who decides what variants/conditions/drug-gene pairs will be released to subjects? How?
The Informed Cohort Oversight Board (ICOB) makes these decisions. This is a group of doctors, scientists and community members who will decide which genetic changes (also called genetic variants), which diseases, and which drug-gene pairs (based on the recommendations of the Pharmacogenomics Advisory Group) will be included in the study and shared with participants. These groups meet regularly so the list of diseases and drugs included in the study will continue to grow over time. The study will only return results that are potentially actionable.
If I am in the Air Force, are there any additional privacy risks?
If you share your results with your healthcare provider (either within or outside of the military) it may become part of your medical record. Once information has been entered into your medical record, it cannot be removed. The Genetic Information Nondiscrimination Act of 2008 (P.L. 110-233, 122 Stat. 881), also referred to as GINA, is a federal law that prohibits discrimination in health coverage and employment based on genetic information. Although this law does not apply to members of the military with respect to insurance provided through the military and military service, GINA does apply to military personnel in their civilian life (health insurance or employment obtained outside of the military). GINA does not apply to life insurance or long-term care.
You are solely in-control of your personal information; at no time will the Air Force have access to any identifiable data associated with the CPMC research study unless you expressly make it available. If you choose to share results with your healthcare provider, you may be at risk for genetic discrimination, including decisions that may impact assignments, terminations, promotions, discharge, healthcare and disability benefits. In addition, information that relates to health or fitness for duty may be required to be reported to appropriate medical or command authorities. If such information is to be reported, you will be informed of what is being reported and the reason for the report. Although genetic information included in your medical record may be reported to command authorities, per DoDI 1332.38, the military evaluation board will deem any hereditary or genetic disease to have been incurred or aggravated by military service unless there is clear and unmistakable evidence that the disability existed before entrance into the service.
Your data (genetic results, survey responses, and medical records) will be stripped of identifiers (name, SS#, etc) and shared with the United States Air Force. Coriell will make every effort to keep your identity private; however, in some circumstances it may be possible for your data to be re-identified. If your data is re-identified, some information may be used against you. For example, if released, questions related to drug use, could result in UCMJ action, risk to deployability or assignment options.
If you access your study account, surveys or results on a U.S. Government (USG) Information System (IS) that is provided for USG-authorized use only, you consent to the following conditions:
- The USG routinely intercepts and monitors communications on this IS for purposes including, but not limited to, penetration testing, COMSEC monitoring, network operations and defense, personnel misconduct (PM), law enforcement (LE), and counterintelligence (CI) investigations.
- At any time, the USG may inspect and seize data stored on this IS.
- Communications using, or data stored on, this IS are not private, are subject to routine monitoring, interception, and search, and may be disclosed or used for any USG authorized purpose.
- This IS includes security measures (e.g., authentication and access controls) to protect USG interests--not for your personal benefit or privacy.
Notwithstanding the above, using this IS does not constitute consent to PM, LE or CI investigative searching or monitoring of the content of privileged communications, or work product, related to personal representation or services by attorneys, psychotherapists, or clergy, and their assistants. Such communications and work product are private and confidential. See DoD Computer-User Agreement for details.