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Genomic Sequencing Study Overview


Geisinger Health System is partnering with Regeneron, a leading biopharmaceutical company, for a new, long-term, large research study.

Significance of Genomic Research

Genetic research holds great promise to increase understanding of the causes of diseases, disorders and medical conditions - including conditions that today have limited or no treatments available. By comparing genetic information against medical histories, Geisinger and Regeneron hope to eventually develop new means of diagnosing, preventing and/or treating medical conditions - before they cause significant harm. Some participants may also receive information that could be useful in their own medical care.

This study is aligned with Geisinger's focus on innovative research to help patients in our communities - as well as improve healthcare for patients across the nation and worldwide.

Geisinger's Goal and Role

Geisinger's goal is to offer research opportunities and benefits to all members of the Geisinger community. To date the participation rate for MyCode® Community Health Initiative has been very high and we anticipate continued interest, making it possible to reach our initial goal of 250,000 participants. We're encouraging all members of the Geisinger community to participate.

Geisinger will collect blood samples from consenting participants, along with relevant medical information. Regeneron will perform genomic analysis on the samples, in the hopes of identifying new information on genetic variants that may be associated with specific diseases and health conditions.

All samples and records will be confidential - with personal information removed and all data scrupulously maintained through Geisinger's secure MyCode® Community Health Initiative repository.

Geisinger Health System, including Geisinger Health Plan, upholds the Genetic Information Non-Discrimination Act (GINA) of 2008 in employment and in insurability, and ensures that genetic information is not used in a discriminatory way.


The Geisinger-Regeneron Partnership

A very large-scale study population is needed for a longer period of time to enable significant new discoveries on genetic factors in diseases and disorders. This requires investment on a scale that no single organization could support alone.

Together, Geisinger and Regeneron can provide the expertise, experience and financial resources to fulfill the promise of this important research. The two organizations have agreed to an initial five-year partnership, which may be extended to ten years.

Under the partnership, Regeneron has agreed to uphold the same high standards of data security and personal privacy that Geisinger maintains for research participants.


Study Goals

The Genomic Sequencing Study hopes to uncover new relationships between genetic variants and associated diseases, disorders and medical conditions.

This will enable healthcare providers to:

  • Foresee disease before it manifests
  • Make early diagnoses of chronic and fatal conditions
  • Identify new treatments and new drugs

Ultimately, the research aims to improve the health of Geisinger patients and patients around the world for generations to come.


The Value of Genomic Research

Genomic research offers exciting potential to provide the medical community the opportunity to advance the practice of medicine. There have been several recent, promising breakthroughs from this research approach.

In Texas, a group of researchers found that some individuals who had very low blood cholesterol levels actually had a mutation in a particular gene, called PCSK9, which proved to regulate blood cholesterol levels. This provided new insights into a new way to treat high blood cholesterol and led to the development of new drug treatments.

Researchers in Italy discovered a groundbreaking treatment for an immunological condition known as ADA-SCID, or "the bubble boy disease." Affected children are born without effective immune systems and must live inside a protective bubble to avoid fatal infection from other people. The only treatment previously was bone marrow transplantation from matched donors. The Italian study is believed to be a first case of gene therapy "cure," or at least a long-term correction, for patients with a deadly genetic disorder. A therapeutic gene called ADA was introduced into the patient bone marrow cells in the laboratory, and then the "corrected" cells were transplanted back into the original patients. All six patients treated had no noticeable side effects, and are now living normal lives with their families without the need for further treatment.


MyCode® Community Health Initiative

To support this and other research efforts, Geisinger has expanded its MyCode® biobank to create the Geisinger MyCode® Community Health Initiative. Geisinger patients and staff who participate in the MyCode® Community Health Initiative will make their samples and relevant medical histories available for any number of medical studies.

The information about participants' genes, along with health information from medical records, may help researchers understand the causes of disease and how to prevent or treat them.

A portion of participants' samples and health information may be shared with other researchers, including government agencies such as the National Institutes of Health (NIH) and other public and commercial partners.