Frequently Asked Questions (FAQs)
The questions and answers provided here are for general information about the study.  In addition, the study is being conducted inside of the UPMC environment, so that your medical information is protected by many local, state and federal laws.  Only information that has been stripped of all personal identifiers will be provided to outside researchers who are studying disease information or biological samples.  The study is being conducted under the approval of the University of Pittsburgh Institutional Review Board (IRB), who consider this to be a minimal risk study.
What is Precision Medicine?

“Precision medicine is an approach to disease treatment and prevention that seeks to maximize effectiveness by taking into account individual variability in genes, environment, and lifestyle. Precision medicine seeks to redefine our understanding of disease onset and progression, treatment response, and health outcomes through the more precise measurement of molecular, environmental, and behavioral factors that contribute to health and disease. This understanding will lead to more accurate diagnoses, more rational disease prevention strategies, better treatment selection, and the development of novel therapies”

from the Precision Medicine Initiative (PMI) Working Group Report to the
Advisory Committee to the Director, NIH
September 17, 2015

What is a Complex Disease?
A complex disease or disorder is a health condition caused by more than one factor. In a complex disease, a combination of factors in the body and environment come together as a “perfect storm” to cause disease. It is often the case that multiple different combinations of factors can cause the same disorder in different individuals. As a result of these many different combinations of factors, individuals with complex diseases also have differences in disease severity, different complications, and different responses to treatment. Examples of complex diseases are high blood pressure, heart disease, diabetes, obesity, cancer, pancreatitis, asthma, arthritis and inflammatory bowel disease, to name only a few.
Why are you being asked to participate in this study and what are you consenting to?

You are being asked to participate in this study because you have a history of a complex disease and are being cared for at a UPMC facility. With your permission, we will use leftover blood or tissue that is collected during your visits at UPMC. You may also be contacted for follow-up information, such as to fill out a questionnaire.

Your participation in this study is completely voluntary, and you can withdraw at any time. If you change your mind about participating, you should contact our office. However, your de-identified samples cannot be withdrawn if they are no longer linked to you at the time of your withdrawal.

How will physicians and researchers obtain and use biological samples from me?

Physicians often order blood, urine or other biological sample testing to determine if the body has a disease or is responding to treatment.  This study will connect detailed information with each sample. However, your name and personal identifying information will be removed if researchers outside of your medical team are evaluating it.

In many cases, biological samples are left over after clinical testing is completed.  We will use this leftover material for the study to obtain your genetic and other biological information. You are not under any obligation to give extra blood or samples beyond what is needed for your regular clinical test.

If you are being scheduled to undergo a surgery, endoscopy or biopsy for clinical reasons, you may be asked if you would be willing to provide extra samples for research. Permission for biopsy samples is given through an additional consent process. No extra biopsies are taken for research with this primary consent.

Biological samples will be used for multiple studies, including genetic testing for clues as to the causes of medical conditions such as yours, or as a comparison to other people with serious medical conditions.  Other biological samples, including blood, urine or tissues left over from surgery or (with additional consent taken as research biopsies) contain clues as to the exact cause of a disease, the response to treatment or other information that cannot be obtained in other ways.   It is important to continue collecting information and samples while the disease is being observed and managed so that responses to treatments can be observed.


How will this change my treatment?

Participating in this study will not have direct impact on your current treatment. The goal is to use this information in the future to help physicians make better clinical decisions regarding care for conditions such as yours.  If clinically important discoveries are made using your sample, the study allows the researchers to inform your physician that further evaluation might be considered.  Your physician may choose to contact you about these findings.

One of the critical roles of a research medical center is to bring together teams of experts to discuss complex cases and to educate trainees.  Some patients’ cases may be discussed in detail in a clinical case conference, in which the discussions are held confidential by the attendees under the federal laws and regulations.  It is through multi-disciplinary discussion in these conferences that some of the most important insights and treatment plans are developed. 

In some cases the study and clinical teams may partner with a diagnostic company or a pharmaceutical company in order to conduct a clinical trial.  The study team may identify some patients as good candidates for this new testing or clinical trial. The eligible patients may be contacted through their physician or representative to inform them that a new clinical trial may be available for their condition.  Patients have no obligation to participate, and will be given all of the information that they need to make a decision as to whether they think that the proposed study is right for them. 

What is genetic information and what does it contain?

Biological samples such as blood contain DNA that can be used to collect genetic information. We have millions of cells in our body, and every cell contains our genetic information, our genes. Genes provide the instructions that determine our physical features, such as hair and eye color, as well as information for how our bodies work. We each have two copies of each gene, one from our father and one from our mother. When there is a change in the spelling of a gene, the way in which that gene is read in the body may be altered. By studying your genetic information, we can look for changes that we expect to be related to your disease. We will look to see how combinations of genes and environmental factors influence conditions based on your information.

When DNA is tested, it is possible to discover information that could be stressful to you or your family, and that you may or may not want to know about.  These genes may have nothing to do with your immediate problem or the questions that your doctor is seeking to answer.  To guard against discovery of unwanted information, only the genes that are important to your doctor’s practice will be provided to them.  The rest will remain unavailable for clinical interpretation. Only researchers will have access to your complete genetic information. However, researchers outside of your clinical team will not have your identity, so they cannot trace the results directly to you.  If they do find something new or important, they will be able to inform your doctor through the clinical team, and then you may, at your discretion, be informed that something may have been found that should be further evaluated.

If you would like to find out more information about your genetics, we will refer you to a genetic counselor and/or geneticist for appropriate interpretation and counseling.

How will this study affect my children or other family members?
Genetic information is inherited and passed from parents to their children. When a single gene causes a disease, the chance for passing the condition to a child can be estimated. However, complex diseases are caused by multiple factors, including genetic and environmental factors that interact to cause disease under specific conditions. Therefore, we are not able to predict that a person will definitively develop a complex disease, but rather identify factors that influence your disease course, complications, and response to treatment. From this information, we may be able to personalize your treatment. However, this information will not provide us with the ability to estimate definitive recurrence risks for your children or other family members. Furthermore, we are not enrolling children under the age of 18 years in this study.
How is my privacy respected?

We take your privacy very seriously and take precautions to minimize the risk of breach of confidentiality. Because we are obtaining information about your genes, there is always a small risk that this information could become known to others. Families share genes, and this information could be relevant to your family members as well. The Genetic Information Nondiscrimination Act of 2008 (GINA) is a federal law that protects individuals from discrimination by their employers and health insurance providers based on their genetic information. However, this law does not cover life insurance, disability insurance, and long-term care insurance. Both the University of Pittsburgh and UPMC are taking all possible measures to protect your information.

What if my Physician at UPMC is not a part of this study?
Please contact us and/or you physician so that we may invite them to be a part of the study.