John Bennett Jr. sat in a cushioned chair, stretched out his left arm and watched as Blanca Steffens filled a vial with his blood on a recent afternoon inside the clinical lab at AtlantiCare Physician Group Primary Care Plus in Northfield.
With just a little bit of that blood, researchers and geneticists with Geisinger Health’s MyCode project will be able to tell Bennett whether his DNA carries genetic markers for certain diseases and health conditions.
The field of genomics has grown by leaps and bounds, and the testing once reserved for a select few has become available on a large scale. Dubbed precision or predictive medicine, researchers hope to use genetic information to improve disease prevention, treatment and outcomes.
“Rather than waiting for people to get sick, we can identify risks in people earlier and may prevent them from getting sick,” said Andrew Faucett, director of policy and education in Geisinger’s Office of the Chief Scientific Officer. “It’s less expensive to keep someone healthy than it is to care for them sick.”
Pennsylvania-based Geisinger launched MyCode in 2014 across its system of heath providers and hospitals, and now works with Regeneron Genetics Center. MyCode came to AtlantiCare locations and patients one year after it merged with Geisinger in 2015.
Faucett, also a professor at Geisinger Commonwealth School of Medicine, said the program has enrolled more than 150,000 patients, more than 10,000 of whom are from AtlantiCare.
Officials say the program intends to eventually include 250,000 enrollees. DNA has been analyzed so far for about 60 percent of participants as of Aug. 1, MyCode reports show.
Bennett, 55, of Somers Point, had read about the rise of genetic testing in medicine and had a family member who had it done years ago, so he jumped at the chance to participate in MyCode when the opportunity came, he said.
“Anything to do to help with medical research and I’m in,” he said.
The program is twofold.
By collecting and analyzing genetic data from more than 150,000 people, Faucett said, researchers will be able to conduct comprehensive studies on how diseases can affect large populations.
For health providers and their patients, test results can provide information about a person’s risk of developing certain disorders, such as cancers or cardiovascular conditions. Results can lead to discussions about medical care decisions with doctors and genetic counselors.
Scientists with the National Human Genome Research Institute completed sequencing of the human genome, or the complete human set of genetic instructions, in April 2003.
Experts can now look at someone’s DNA to see if their genetic coding has irregularities. A gene change can confirm if a person already has a disease, may develop a disease or is at risk of passing along a genetic disorder to his or her children.
“Genetics can tell if a woman has a BRCA-1 or -2 gene mutation, which puts her at an increased risk for breast cancer,” Faucett said. “Now, she can use mammograms or preventative surgery to avoid cancer, or an advanced case.”
Before genetic testing was more accessible to the general population, it was used primarily for patients at risk of rare conditions, such as Huntington’s disease, sickle cell disease, cystic fibrosis and others.
The MyCode program looks for variations in 76 genes associated with 27 clinically actionable disorders, or medical issues that can be prevented or managed better with knowledge of the gene mutation. The program does not test for Alzheimer’s disease or some rare conditions like those mentioned previously.
Faucett said preventive measures and sometimes treatment can be a one-size-fits-all approach, similar to how adults are generally recommended for colonoscopies starting at age 50, or women for mammograms starting at age 40 or 45.
But if someone has an identified gene mutation for colon or breast cancer, testing may be recommended at earlier ages. Faucett said genetic results for one person may also influence other family members to be more aware that they too may be more susceptible to these disorders.
Jessica Romanowski, research consenter for the MyCode program at AtlantiCare, explained to Bennett that it could take several months for his results. If there is a gene variation, Romanowski said, researchers will notify his primary care physician, who will schedule a follow-up with Bennett.
“If they are gung-ho for research, (patients) are usually really supportive about participating,” she said. “Also, people want to know how it will benefit them. Some want to know about privacy and what will happen with their DNA. Patient privacy and confidentiality are very important to us.”
A patient’s genetic information and results for the research end of things is identified only by a number, Faucett said. When variations are identified, researchers directly contact the patient’s physician.
Under the program’s current list of medically actionable diseases, Faucett said, about 3.5 percent of patients will get a call from their physicians with a positive, or gene-variation, result.
Because it is a research program, there is no cost to participate for patients who consent at any AtlantiCare Physician Group primary care location, the obstetrics and gynecology office or AtlantiCare Health Park, both in Egg Harbor Township. More specialty locations are being added, AtlantiCare officials said.
Faucett said much remains to be discovered in genomics, but Geisinger plans to use collected data to more precisely understand diseases, which may lead to solutions on how to better prevent or predict their occurrence in people.
“Sometime in next five to 20 years, having your genes looked at will be part of normal care,” he said. “There’s still a lot to learn how to use those results, but we’re learning. It’s very exciting.”