People differ from one another in millions of ways. For starters, there is eye color, hair color, body build, and tendencies toward certain diseases and conditions. We know that genes determine these differences. Now, we also are learning that genes affect how our bodies respond to disease. Through the study of genetic links between patients and chronic diseases, Geisinger Health System researchers are hoping to gain a better understanding of how to prevent, diagnose and treat these diseases. 

A new program at Geisinger called MyCode is capitalizing on the health system’s unique ability to utilize its integrated infrastructure to link genomic information with one of the nation's most advanced electronic health record (EHR) systems and fastest growing biobanks. The result is a powerful tool that is the bridge to Geisinger's personalized medicine program – an initiative that promises to ultimately re-engineer the paradigm of healthcare from reactive to predictive and, with the help of researchers and physicians, engage patients in their personal health and wellness. 

Geisinger patients learn about MyCode at Geisinger Medical Group sites and about 90 percent choose to participate. With written consent, participants agree to provide a deoxyribonucleic acid (DNA) sample – chemical material that is inherited and extracted from a blood sample - at their next scheduled blood draw. From there, the sample is linked with EHR information and routed to the system’s biobank for quick researcher access. 

Since launching the MyCode pilot program two years ago, researchers have collected 20,000 DNA samples – proportionately more samples than from any other biobanking facility nationwide. Samples generally fall into two groups: those from patients seeking general health and wellness care from their family physicians and those from patients seeking specialty medical care, such as bariatric surgery. 

These samples are helping Geisinger researchers gain critical insight into patients’ risk of chronic health conditions, such as abdominal aortic aneurysms (AAA), severe asthma, depression, obesity, familial ureterocoele, digoxin/phenytoin toxicity, overactive bladder syndrome and various pain conditions. 

“This information will ultimately improve health by motivating people to make positive lifestyle changes, such as exercising, eating healthy, quitting smoking as well as decisions to seek further medical evaluation and preventive strategies,” said Geisinger Center for Health Research Director Walter “Buzz” Stewart, Ph.D., M.P.H.

A number of safeguards protect the privacy of participants’ genetic and EHR information. Confidentiality and subject anonymity are strictly maintained by de-identifying the samples. Samples are assigned specific identification numbers, encoded, encrypted and entered into a secure database. A governance board – with Geisinger and non-Geisinger representation - meets several times a year to audit the process. 

“The goal of MyCode is to translate genetic data into specific knowledge about a disease that is clinically relevant and will enhance patient care,” said Glenn Gerhard, M.D., staff scientist and director of Geisinger’s Genomics Core. “Geisinger’s integrated healthcare delivery system, geography, as well as its electronic health record, biobank, lab, data, and basic science and population-based research programs, make this an outstanding environment for discovery." 

“MyCode aims to discover genes that increase a person’s risk of chronic disease and help us understand why people respond differently to treatments,” explained Weis Center for Research Director David Carey, Ph.D. “The more we know about the causes of disease, the greater our ability to provide more effective treatment and, ultimately, prevent disease from occurring.” 

According to Carey, by matching genes with a comprehensive profile of a specific chronic condition, researchers are able to study groups of patients with similar signs and symptoms and begin to predict and understand how they will respond to a specific treatment or medication.

“This project provides the opportunity to move genetics from the laboratory directly to patient care,” explained Stewart. “MyCode is driving research that promises to improve the health and healthcare of patients nationwide.”