1. What is the Genomic Sequencing Study?
The research study is a partnership between Geisinger Health System and Regeneron, a leading biopharmaceutical company, to perform genetic analysis on blood samples from approximately 100,000 participants and to use this genetic information, together with some aspects of the Geisinger medical record, in an attempt to discover new connections between genes and diseases.
2. Why is Geisinger participating in this research?
Research is core to Geisinger's mission, and we believe that research and excellent healthcare go hand in hand. Our goal is to use this research to get better healthcare solutions to patients faster. This research is an innovative way to give opportunities to our patients and our healthcare system while building in strong protections for our patients. It is part of our culture of innovation to look constantly for improved ways to treat patients and obtain better outcomes.
3. Why is Regeneron participating in this research?
To discover new connections between genes and diseases, and thereby enable the development of new lifesaving treatments and drugs.
4. How will participants be chosen to participate in the research?
Current and future participants in the Geisinger MyCode Community Health Initiative will participate in this project. Participants will contribute to research aimed at finding new ways to diagnose and treat disease. Some participants may also receive information that could be useful in their medical treatment and care.
5. What is the MyCode Community Health Initiative?
Geisinger maintains a biorepository called MyCode to support research efforts. As a result of the new Genomic Sequencing Study, Geisinger is rapidly expanding MyCode and has renamed it the Geisinger MyCode Community Health Initiative. The participation of Geisinger patients and staff will help make possible any number of studies - including the Genomic Sequencing Study.
6. How many patients are needed for the study?
Geisingers' goal is to make it possible for all members of the Geisinger community to participate in the MyCode Community Health Initiative. This particular study has a goal of up to 100,000 participants being studied. To date the participation in MyCode has been very high and we anticipate continued interest making it possible to reach the initial goal of 100,000 participants.
7. How might patients benefit from the study?
Participants will contribute to research aimed at improving treatments for disease. For some participants, investigators may also identify, in their samples, genetic variants that could be directly useful in their treatment and care
8. Are you seeking patients who have a specific illness or disease?
No. The goal of the research is to look for gene variants in a large population of patients with different degrees of illness and disease. For the research to be successful, it will be important to have participants who are robustly healthy as well as those who have specific health concerns.
9. How will you ensure that patients understand the nature and aims of the research?
All study participants must sign a Consent Form. This form was developed with the Institutional Review Board (IRB) and it explains, in simple and direct language, the meaning of the study and to what participants are consenting. In addition, a trained research assistant will be available to explain the form and the study.
10. What is the Institutional Review Board (IRB)?
The mission of Geisinger Health Systems Institutional Review Board (IRB) is to advocate for the rights and welfare of research participants. The board ensures that the rights of all human participants in research at Geisinger Health System are protected. Additionally, the IRB is responsible for making sure that the research is performed in accordance with federal, state, and local regulations and institutional policies.
11. What is genomic research?
Genomic research studies the complex relationship between DNA and human health and disease. The goal is to identify human gene variants that are associated with human diseases. Genomic research potentially provides the medical community with the opportunity to advance the practice of medicine by improving the ability to foresee disease before it manifests, diagnose chronic and fatal conditions before they disable or kill, and identify or develop new treatments, which could improve health outcomes for many patients.
12. What will participants be asked to do as part of the study?
Study participants are asked to provide blood samples that can be used for broad research. They also consent to having researchers access relevant information that is obtained during normal clinical care and contained in their Electronic Medical Records. Before either blood samples or EMR information is shared with investigators beyond Geisinger, all information that identifies a specific patient will be removed to protect privacy.
13. Why would patients volunteer to participate in this effort?
The unprecedented size of this study could allow the scientific community to realize major breakthroughs in how to diagnose and treat diseases and chronic illnesses. As part of the study each participant can play a role in improving health care for generations to come. Additionally, researchers will be looking for medically important information in a participants' genetic material and their medical records, and if clinically actionable information is found, it will be returned to the patient and his or her physician. These results may allow the early identification and better treatment of conditions or diseases that may affect the patient and his or her family.
14. What will be done to protect the privacy of the participants?
Geisinger has developed a very sophisticated, multi-layered approach to securing and protecting participants' personal, medical, and genomic information. Our commitment is that information about patients participating in the study is as secure, if not more so, than their clinical records. In addition, Geisinger staff will act as brokers in passing the information from Geisinger to Regeneron. Furthermore, the data compiled for this study are "de-identified" (information that would allow personal identification is removed) to minimize the possibility that the connection with any individual can be known or re-established. Our agreement with our industry partners includes a pledge that they will implement data security as rigorous as ours and will not attempt to re-identify study participants. We are confident that the chance that any study volunteer's personal information will be lost or divulged is as low as it can possibly be.
15. What risks to participants, if any, are involved with the study?
Participating in the study poses no health risks to the patients; because this is a genetics study, patients face no physical harm. Genomic Sequencing Study participants are not exposed to new treatment methods, nor are they involved in the testing of new drug formulas; participants merely provide access to blood samples collected in conjunction with their clinical treatment and access to their Electronic Medical Records. The greatest potential risk is the unintended release of confidential information. Strict measures will be implemented to ensure confidentiality of patient information. There is also a risk that participants may learn information about a health risk that is surprising.
16. Once patients consent to participate can they later withdraw?
Participants may withdraw from the project at any time by contacting the MyCode Community Health Initiative staff. Scientists will have access to and will be able to continue using any information that has already been collected, but no further samples will be collected and no new information will be generated from past samples.
17. Why is Geisinger partnering with Regeneron to conduct this research?
The unique aspect of the Genomic Sequencing Study is the unprecedented size of the study population - up to 100,000 participants. This scope will provide our scientists with the opportunity to draw new and definitive conclusions about the genetic causes of human disease. But genomic analysis remains very expensive and unattainable on this scale without a trusted partner such as Regeneron. The partnership brings the power of industry together with the patient resources of a world-class integrated health system.
18. Why Regeneron and not some other company?
Regeneron approached Geisinger to collaborate on this important effort. We were impressed with the scope of the project and believe it will lead to significant new treatment options that will result in better patient care. We know Regeneron as an innovative, robust, ethical, and science-driven company - one that has the resources and the acumen to implement the Genomic Sequencing Study along with us.
19. What exactly will Geisinger/Regeneron be studying?
The initial focus of the Genomic Sequencing Study will be upon the collection and analysis of samples and records. Through genomic sequencing, association of DNA patterns with specific diseases will be detected that will allow scientists to make reasonable assumptions about how DNA affects these conditions. As these patterns and trends emerge, Geisinger and Regeneron will design and implement specific research and drug development initiatives.
20. How can the general public be assured that the research is ethical and above-board?
We have insisted that the research study be established and operate within a robust ethical framework comprised of the Principles of Trust, Respect, and Care. To ensure and safeguard the integrity of the Genomic Sequencing Study and the bond of trust between Geisinger and its community, an independent ethics advisory board will be in place to provide oversight, especially with regard to ethically sensitive or significant policies, functions, and activities.
21. What are the Principles of Trust, Respect and Care?
These principles define our optimal relationship with all of our patients. The Principle of Trust mandates that Geisinger keep the participants and its community well informed about and engaged in the research process. Our goal is to be totally transparent with regards to outcomes. The Principle of Respect mandates us to use ethically valid processes for seeking and documenting consent to participating in any of our research studies and the Principle of Care means that Geisinger will return clinically actionable results to participants when they are available and can be used by physicians and other health professional to optimize the care of the participant.
22. How long will the Genomic Sequencing Study last?
While we believe we will begin to release findings within about 12 months, the study will initially span 5 years, and could be extended to 10 years. As the study evolves we will leverage the lessons learned and conduct different DNA explorations. We anticipate a number of meaningful results over the course of the study.
23. When and how will results from the research be announced?
Results from the research will be released throughout the course of the study. Our goal is to be as transparent as possible. As new findings are uncovered, results will be released through research papers, a MyCode Community Health Initiative newsletter and webpage, and other outreach methods that are still being determined. In addition, any major results or findings will be communicated via the media. Our goal is to uncover concrete results that can be implemented at the patient level as soon as possible.
24. If researchers find out anything about a patient's health will they tell the patient? Will they tell the patient's doctor?
Researchers will be looking for clinically actionable findings in each participant's DNA sequence, and if clinically actionable results are found, they will be returned to the patient and his or her doctor. Patients and physicians will have access to resources and support within Geisinger to understand and decide on any course of action indicated by the results. It is important to understand that not all study participants will have their complete genomes sequenced; in some cases only a partial sequence will be completed. In addition, there is still much to be learned about the connection between human genetics and disease, which is the very reason for this study. Therefore, patients will only receive results if the diagnosis is certain and treatment is possible.
25. You say Geisinger's participation is all about patient care; how will you show that the study has resulted in improved care?
Geisinger will track and report on the number of patients who were notified of clinically actionable genomic findings and will evaluate whether they received care earlier than the average for patients outside the study - and whether the resulting health outcomes were better, in comparison to non-participating patients. In addition, we will report on any new treatments that are developed based on the study, along with the impact on health outcomes from those treatments.
26. Why doesn't Geisinger invest in other kinds of research? Is this really the best research investment?
Geisinger has been investing in genomic research for several years and feels this area is critical to the future of medicine. Geisinger has and will continue to invest in many other lines of research to benefit our patients, our community, and individuals worldwide. We believe that this groundbreaking research effort will yield substantial results - for many of the individuals who are participating, and for many others in years to come.