The Mass General Brigham Biobank is a large research program designed to help scientists understand how people’s health is affected by their genes and other factors. A person’s risk for getting a disease depends on many factors. Your risk includes the genes you inherit from your parents as well as environmental factors. Environmental factors include whether you smoke or exercise, where you work, your body mass index, and other factors. Scientists believe that even small differences in genes or these other factors can affect whether you get a disease or medical condition, such as asthma, heart disease, diabetes, arthritis, cancer, and many others. We hope these studies will help researchers and clinicians develop better ways to prevent, detect, and treat disease.
A blood specimen will be collected from you. You may be asked to donate a blood sample of up to 5 tubes (about 3 tablespoons). If possible, we will use samples collected when you have a blood draw as part of your routine clinical care. In the future, we may also collect an additional blood samples of up to three tubes (about 2 tablespoons) at the same time as a blood draw for your clinical care.
In the future, as part of your routine care, your doctor may collect blood or tissue samples from you for testing as part of your medical care. After the tests for your medical care are completed, part of your samples may be left over. Normally these leftover samples would be thrown away. We are asking you to allow us to collect and store any leftover clinical samples in the Mass General Brigham Biobank. This collection will not affect testing of your samples for medical purposes.
We would like your permission to look at health information in your medical records. This will include your medical diagnoses, test results, and prescriptions. In the future we may review your medical records to update your health information.
We will also ask you to complete a short questionnaire. This will take about 5-10 minutes. You may skip any questions you do not want to answer. Your responses will not change your medical care in any way. For example, the questionnaire will ask you about:
- Whether you smoke cigarettes or how much you exercise.
- The environment in which you live and work (for example, your exposure to the sun and what type of job you have).
- Your family history (for example, whether your parents have diabetes or cancer).
Staff at the Biobank will assign a code number to your samples and health information. Your name, medical record number, or other information that easily identifies you will not be stored with your samples or health information. The key to the code will be stored securely in a separate computer file that can only be accessed by specific study staff.
We will store your samples and information indefinitely.
You have a right to withdraw your permission at any time. If you do, your samples and information will be destroyed. However, it will not be possible to destroy samples and information that have already been given to researchers. If you decide to withdraw, please contact the Mass General Brigham Biobank staff in writing.
Email: biobank@partners.org
Phone: 617-525-6700
Mail:
Mass General Brigham Biobank
65 Landsdowne St,
Cambridge, MA 02139
Many types of research may be done with your samples. Some studies will do genetic research to look at your DNA and genes, including an examination of genetic variants. Others may look at proteins and other products made by your body. Researchers may conduct research on heart disease, cancer, diabetes, mental illness, or any other disease or medical condition.
In particular, we will conduct genetic analyses on your DNA. We know that certain changes in DNA, sometimes called genetic variants, can affect your health or may be of interest to you. For example:
- Certain DNA changes may increase or decrease the risk of developing specific health conditions like some cancers and types of heart disease.
- Certain DNA changes may increase the risk of passing specific health conditions onto children, even if the parents don’t have those conditions.
- Certain DNA changes may impact how certain medicines work and whether a person gets side effects after taking them.
The long-term goals of genetic research are to learn how to better understand, prevent, diagnose or treat diseases.
Some genetic research looks at a small portion of your genes, while other genetic research may study all of your genes. Research that looks at all of your genes is usually trying to find out if there is an association between a medical condition and a change in one or more genes.
In order to allow researchers to share research results, agencies such as the National Institutes of Health (NIH) and others, have developed secure information and specimen banks that collect and store research data and samples from genetic studies. These central banks may share this information with approved researchers to do more studies. Genetic samples and results given to the central banks will not contain your name or other information that directly identifies you.
Your sample may be used as a healthy control in research to study why some people have a disease that you don’t. If researchers know what causes disease, they can help find ways to prevent it in the future.
It is not possible for us to list every research project that may be done. Also, we cannot predict all of the research questions that will be important in the future. One of the most valuable features of the Mass General Brigham Biobank is that it can be used to answer new questions and continue to generate discoveries for years to come. As we learn more, we may use your samples and information to answer new types of research questions related to human diseases.
The Mass General Brigham Biobank will analyze the samples of many Biobank participants. There may be times when researchers are analyzing your clinical record, your DNA or other biomarkers and discover information that may be medically important to you. If experts from the Biobank decide that research results from your samples are of high medical importance, we will attempt to contact you to give you these results.
The Biobank is primarily a research effort and is not a substitute for your regular medical care. It is important to note that any results of research done using your samples should be reviewed in the context of your overall health, so you should not make any changes to your medicines or care until you talk to a healthcare provider.
It is possible that the Biobank will not analyze your samples. It is possible that you will never be contacted with individual research findings. This does NOT mean that you don’t have or won’t develop an important health problem. In particular, you should NOT conclude that your DNA has been sufficiently analyzed to rule out a genetic condition through this research.
We plan to check your DNA for certain kinds of changes (sometimes called genetic variants) and may return some of your results to you. Some of the results we give you may help your healthcare providers understand more about your health. Others may not directly impact your health but could provide other interesting or useful information to you or your family.
The Mass General Brigham Biobank plans to return different kinds of results to participants.
Actionable Variants
We may look for single DNA changes in genes that are considered to be related to health conditions that are medically actionable. When a DNA change is associated with a medically actionable condition, there is a possible intervention to decrease risk of developing the condition or to prevent the condition from progressing. If our team of experts decides that these results from your sample are of high medical importance, the study staff will send you a follow-up letter. This letter will not provide any specific results but will let you know that a healthcare professional who understands the health-related research findings will be contacting you to offer this personal health-related research result. When we contact you about research results, you can choose whether you want to know about these results or not. If you do not want to know about these results, they will not be placed into your medical record. If you do want to know about these results, they may be placed into your medical record. At your request, this healthcare professional will provide the health-related research findings to your doctor.
Polygenic Risk Scores
We may look at many different DNA changes at once to find a pattern called a “polygenic risk score”. This score provides medical information that can be combined with other information about your health and may indicate that you are at increased risk or decreased risk for certain medical conditions. You will be notified if we find that you have a high polygenic risk. You will be asked if you wish to receive this information with the opportunity to opt-out. If you do not want to know these results, they will not be placed into your medical record. If you do want to know about these results, they may be placed into your medical record.
Pharmacogenetic Results
We may look at DNA changes that can affect how a medication affects you or causes side effects to find “pharmacogenetic risks”. If we find a variant that may be important to your health because it relates to how you respond to certain medications, because this information can change whether or not a doctor prescribes a certain medication, or the use instructions they provide you for those medications, we may provide this information directly to your Mass General Brigham healthcare provider and include your results in your electronic medical record even if we are unable to contact you.
Hereditary Variants
These are genetic Variants that increase the risk of passing specific health conditions onto children, even if the parents don’t have those conditions. The Biobank may return such information to participants in the future.
Ancestry and traits
Some DNA changes may tell us about things like where our ancestors may be from, individual traits (e.g. whether cilantro tastes like soap), or how our bodies work. The Biobank is not currently returning ancestry information, non-medical traits, or carrier status for recessive traits, though we may return these types of results in the future
It is important to remember that research results are not the same as clinical tests. Your doctor may need to repeat the research findings using a certified clinical laboratory to be certain that the result is correct.
It is possible that you will never be contacted with individual research findings. This is because your samples will not be used in all research, and because researchers will often look at only a small portion of your genes or other information. Not being contacted does not mean that you don’t have, or won’t develop an important health problem.
The main risk of allowing us to use your samples and health information for research is a potential loss of privacy. We protect your privacy by coding your samples and health information. There are federal laws and state protections that can help protect your privacy. Some of these laws say that employers can’t treat people differently because of their DNA. The federal laws do not apply to employers with fewer than 15 employees. These laws also say that health insurance companies can’t use DNA information to change your coverage, drop you, or charge you more. There is a risk that DNA markers and other biomarker results may influence other types of insurance plans such as life insurance, disability insurance, and long-term care insurance.
We do not think that there will be further risks to your privacy by sharing your samples and other information with other researchers; however, we cannot predict how such information could be used in the future.
The risks associated with placing the results in your electronic health record about how variants in genes relate to how you respond to certain medications include increasing or decreasing a dose of an effective medication, changing to a different medication, or stopping an effective medication due to potential side effects that leads to less benefit than the medication provides.
Polygenic risk scores only indicate if you are at increased or decreased risk of developing a medical condition. They do not guarantee that you will or will not get the condition. If you find out you are at increased risk for a medical condition, you may have higher healthcare costs due to increased preventive screening for the condition. However, knowing that you are at increased risk for a medical condition also has the potential to be beneficial to your health because increased preventive screening for the condition and/or behavioral changes relating to the condition could help delay the onset or prevent the medical condition from occurring.
As scientists learn more about DNA changes and biomarkers, it is possible that our understanding of their health impact will change over time. We might learn a DNA change or biomarker is more or less likely to cause a health problem in the future. If this happens with a result you have received, we may update you, your provider, and/or your medical record to reflect these changes.
We may provide you with information that may be of interest to you, including ancestry information. You may learn information about your ancestry that you do not expect or that makes you uncomfortable. This could include learning your family is originally from areas of the world you were not anticipating and, in rare cases, could even reveal unexpected information about your biological relationship with your family.
There is a very small risk of bruising or infection from drawing blood similar to what might occur from a routine blood draw that you get for your doctor.
All of your identifiable health information is private under federal law. However, there are certain cases where we may need to release your information to organizations such as federal and state agencies and audit committees that oversee research. We do not release any information stored in the Mass General Brigham Biobank to insurance companies.
The main risk of your participation in this research is a loss of privacy. By sharing your information from your medical record with researchers, it is possible that someone could find out private information about you. However, there are many safeguards in place to protect your privacy. These include assigning codes to your samples and information, requiring ethics board approval for researchers and staff, and an oversight committee.
If research results are provided to central banks, these banks also have many procedures to protect your privacy and confidentiality. While we think that there are only minimal risks associated with sharing research results, we cannot predict how this information might be used in the future.
Your privacy is very important to us and we will use many safety measures to protect your privacy. However, in spite of all of the safety measures that we will use, we cannot guarantee that your identity will never become known. Although your genetic information is unique to you, you do share some genetic information with your children, parents, brothers, sisters, and other blood relatives. Therefore, it may be possible that genetic information from them could be used to help identify you. Also, it may be possible that genetic information from you could be used to help identify them.
Collaborating with researchers
The Mass General Brigham Institutional Review Board (IRB) is certified to approve all researchers who will want to use samples and health information for their studies. The IRB ethics board independently reviews and watches over all research studies involving people. The board follows state and federal laws and codes of ethics to make sure that the rights and welfare of people taking part in research studies are protected.
Your coded samples and health information may be shared with researchers at Mass General Brigham institutions. They may also be shared with researchers at non-Mass General Brigham institutions or with for-profit companies that are working with Mass General Brigham researchers.
Your samples will not be sold for profit. We may use your samples and information to develop a new product or medical test to be sold. The hospital and researchers may benefit if this happens. There are no plans to pay you if your samples and information are used for this purpose.
We will only share information that identifies you with researchers within Mass General Brigham who have approval of the Mass General Brigham ethics board (IRB). We will not share information that identifies you with researchers outside Mass General Brigham.
In order to allow researchers to share research results, agencies such as the National Institutes of Health (NIH) have developed secure banks that collect and store research samples and/or data from genetic studies. These central banks may store samples and results from research done using Mass General Brigham Biobank samples and health information. The central banks may share these samples or information with other qualified researchers to do more studies. Results or samples given to the central banks will not contain information that directly identifies you. There are many safeguards in place at these banks to protect your privacy.
While there may be no direct benefit to patients for participating in this project, your participation could help us better understand, treat, and even prevent diseases that affect your loved ones, your future generations, as well as the larger community.
If researchers find results that are important to your health, you may directly benefit from research conducted on your samples stored in the Biobank. Results about DNA and other biomarker changes may help your healthcare provider take better care of you. They may be able to prevent or find a health condition early. This could help you get better treatment or more appropriate medication.
Your samples and information will help further progress of research studies and medical care at our Mass General Brigham hospitals, such as Massachusetts General Hospital and Brigham and Women’s Hospital. We hope that research using the samples and information will help us understand, prevent, treat, or cure diseases.
You will not receive payment for your samples. When you come into the hospital for a blood draw, either scheduled by your doctor or scheduled by Biobank staff, your parking cost may be covered, or you may receive a cafeteria voucher.
There are no costs to you to participate in the Biobank.
The Genetic Information Nondiscriminatory Act of 2008 (GINA) is a federal law that protects you from discrimination based on your genetic information. It means that you cannot be denied health insurance or employment at companies with more than 15 employees based on any genetic test results. The law does not apply to life insurance, disability insurance, or long-term care insurance
If you have any questions before you sign this consent form or after you join the study, you can contact Mass General Brigham Biobank staff at:
Email: biobank@partners.org
Phone: 617-525-6700
Mail:
Mass General Brigham Biobank
65 Landsdowne St.
Cambridge, MA 02139
The person in charge of the Mass General Brigham Biobank is Elizabeth W. Karlson, MD, MS.
If you want to speak with someone not directly involved in the study, contact the Mass General Brigham Institutional Review Board at 857-282-1900.