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Complex Genomics Initiative: Genetics of Cardiovascular and Metabolic Phenotypes

Official Title
Genetics of Cardiovascular and Metabolic Phenotypes

Daniel Rader, MD


Why is this study being done?

The purpose of this study is to develop a bank of DNA material on all adult patients with cardiovascular or metabolic conditions that come to the University of Pennsylvania Health System (UPHS) for care, treatment, or surgery. A DNA bank is a place to store DNA so it can be used now and for future study. This bank will be used by researchers here at UPHS. Additionally, outside researchers may study DNA samples. If any DNA is shared with other researchers, the identity of the patients will remain anonymous.

This research study aims to improve our understanding of the genetic causes of cardiovascular disease (diseases of the heart and blood vessels that carry blood throughout your body), diabetes mellitus, metabolic conditions or related disorders. Some rare diseases are caused by a single change in DNA (one gene). Common diseases, like cardiovascular disease and diabetes, may be caused by several genes that work together.

Scientists will look for regions (pieces) of the DNA that might be responsible for risk of cardiovascular disease and metabolic conditions, such as:

  • Regions which may identify specific genes and their variations that might help us understand and diagnose cardiovascular disease and/or diabetes
  • Regions which may explain how people respond to treatment (medications) related to cardiovascular disease or diabetes
  • Regions which may help develop approaches to prevent cardiovascular disease and diabetes from happening

  • Who is eligible to participate in this study?

    Men and non-pregnant or lactating women who are at least 18 years old.


    Children, pregnant women, fetuses, neonates, or prisoners are not included in this research study.

    Age range?
    18 years and older

    What is involved with this study?

    We are asking all adult patients with cardiovascular or metabolic conditions regardless of gender, age, or background to volunteer a blood sample to a DNA bank established by the Penn Cardiovascular Institute at University of Pennsylvania Health System (UPHS). By comparing the DNA of our patients, we hope to determine which genes are responsible for certain cardiovascular conditions.

    Patients who receive medical or surgical care for a cardiovascular or metabolic condition within the University of Pennsylvania Health System (UPHS) as an inpatient or outpatient are invited to participate. Participation is strictly voluntary. Patients’ current and future medical care at UPHS will not be affected if they decide not to participate.

    Participation consists of one visit that takes approximately 15 to 30 minutes.

    Once consent is obtained, a blood sample (30 ml or 2 tablespoons) will be drawn. This blood will be used to both collect DNA encoding for many genes related to cardiovascular disease and/or metabolic conditions and for labs that are related to the risk or treatment of cardiovascular disease, diabetes, metabolic conditions or related disorders.

    Each patient's blood specimen will be given a special coded number and will not contain the name of the patient or any other identifying information.

    In addition, each patient will complete a short survey form that asks questions about personal and family medical history.

    By participating in this study, patients are also agreeing to allow us to review their medical records that are available within the UPHS and collect information that is useful for the objectives of this study. For example: medications, weight, laboratory values, past medical history, past procedures, etc. Collected information from medical records and from the survey form will be stored within a secure research database that will be encrypted. Encryption means converting stored data into a form that will not be understood by unauthorized people.

    All participants' health information will be coded and will not include any identifying information. The research database will be accessible only by designated research staff.

    How long will this study run?

    About 100,000 adults who receive care at the University of Pennsylvania Health System (UPHS) will be recruited to complete the study. We estimate that it will take approximately 5 years to recruit 100,000 volunteers.

    Who can I contact for additional information on this trial?
    Jennifer Morrissey, MSN, MBE, CRNP, RN, MS