FARGO-Sanford Health envisions a day when patients can walk into a primary care clinic and provide a blood sample that will reveal genetic susceptibility to certain diseases and help to guide treatment options.
That day, as it turns out, is coming soon with the planned "mid-year" rollout of a laboratory test that uses a small blood sample to determine a patient's risk for certain diseases.
Initially, the test will identify about 60 diseases that the patient might be predisposed to develop, most of them involving heart health, cancer and mental health, as well as about 30 drug-gene interactions.
"Nobody else in the world is doing this," said Nate White, executive vice president of Sanford Health Fargo, referring to the routine use of genetic screening in primary care clinics. "What we're after is the primary care setting."
The test, which will cost $49, will not be billed to health insurers, but is intended to be affordable enough that it will become a routine test to provide information that the patient's primary care doctor can use to guide treatment decisions, White said.
The test screens for conditions including aortic aneurysms, hereditary breast and ovarian cancer; retinoblastoma, a form of eye cancer usually developed by children; thyroid cancer; Wilms' tumor, a type of cancer that starts in the kidneys; Wilson disease, which causes copper to accumulate in the liver, brain and eyes; and Lynch syndrome, a hereditary form of colorectal cancer.
Test findings, for instance, could lead to more diagnostic testing, such as an MRI scan for breast cancer.
The introduction of the test is the latest clinical service of Sanford's Imaginetics program, an initiative given a significant boost with a $125 million donation from namesake benefactor Denny Sanford in 2014.
The service will roll out in stages over the next couple of years. Notifications will be sent to adult patients who see a Sanford primary care provider and are enrolled in its MyChart electronic medical records system.
Before enrolling, patients will go through an informed consent process, including instructional videos, and can receive follow-up from a genetic counselor.
In designing the program, Sanford decided to focus the testing on inherited diseases or conditions that can be monitored and treated, including through preventive surgery, for instance.
"A key piece of our program is that we strive to provide actionable information that could help improve care for patients," said Dr. Cassie Hajek, a Sanford medical geneticist.
The American College of Medical Genetics and Genomics, which provides guidance on genetic testing, frowns upon the testing kits sold directly to consumers and supports those guided by trained medical professionals.
"The public deserves access to different types of medical information about themselves," the college said in a policy paper expressing disapproval of direct-to-consumer testing without medical consultation. "However, consumers are better off when this type of information is provided through a health care system where informed consent is obtained and the privacy of individual health information is protected and only made available secondarily with explicit permission from those to whom the data relates."
Federal law prohibits discrimination in health insurance and employment on the basis of genetic information, and specifies that discrimination is a misuse of genetic information.
Sanford will securely store the genetic information, along with patients' other medical information, to protect privacy, Hajek said.
"In health care, we know patients trust us with their most confidential information, and our number one priority is keeping patient information safe and protected," she said. "We have sophisticated security systems in place, and this information is treated with the same level of security as any other information in the medical record."
Specifically, she added, "This information cannot be used by health insurers to make decisions on premiums or coverage," including the Sanford Plan, Sanford's health insurance.
A 'really novel approach'
Sanford's genetic medicine program started with tests to determine which medications would be best for patients who might have a gene mutation, for example, that makes it difficult or impossible to metabolize certain drugs.
Pharmacogenetic testing, which helps doctors pick the right drug at the right dose, includes evaluations of certain drug classes, including anticoagulants, anticonvulsants, antidepressants, antipsychotics, antidementia drugs and immunomodulators.
"It's been a big endeavor for us," White said. Besides establishing the testing ability, Sanford trained all of its physicians as well as other staff and hired additional genetic counselors, he said. Sanford has three physicians who are medical geneticists in Sioux Falls, S.D., and two in Fargo.
Primary care doctors, sometimes working with genetic counselors, will work with the patient to devise a health care plan, including more effective medications and a better understanding of a patient's risks.
Snippets of a patient's genome are extracted from a blood sample that can be taken at any Sanford clinic and sent to a medical genetics lab at Sanford's campus in Sioux Falls where the Imaginetics program is based. Results of the test usually arrive within 10 to 12 weeks.
"It's a really novel approach," Hajek said, adding that the test is based on guidance from the American College of Medical Genetics. "We've had a lot of great feedback from folks, internally and externally."
If a patient learns that she has a disease predisposition, the patient will be referred to a genetic counselor for evaluation and guidance. For example, a patient who has the gene that puts her at high risk for breast and ovarian cancer could receive follow-up mammograms and, potentially, preventive surgery, Hajek said.
Clinical applications for using genetic testing to guide health care decisions and treatments will only grow as technology and medical science continue to advance.
"I think it grows on a daily basis," Hajek said. "We still have a lot to learn."
White agreed that the use of genetic testing in clinical care is in the early stages and uses will grow over time.
"We predict in three to five years it won't be a snippet, it will be the whole genome and it'll be in a primary care setting," he said.
In a pilot phase, patients who have been tested sometimes do it with their children in mind, as in the case of hereditary diseases that can be passed along, White said.
"They don't only do this for themselves," he said. "They do it for their kids. It's a pretty powerful thing."