Actress Angelina Jolie made headlines around the world last May when she wrote an op-ed in The New York Times describing how she elected to have a preventive double mastectomy based on the results of genetic tests. Her decision cast genetic and genomic testing into the spotlight, and widescale product development may soon fuel new patient inquiries-a lot of them.
Today, there are more than 2,500 genetic tests available to aid in the diagnosis of more than 1,000 diseases and conditions. The number of tests is growing and becoming more commonly used to predict, diagnose, and aid in treatment decisions.
While primary care physicians (PCPs) say that only a tiny percentage of patients inquire about genetic testing and counseling, that is likely to change-and soon-for several reasons:
The number of tests is expanding rapidly, enabling physicians to target how patients will respond to chemotherapy and radiation therapy. “By looking at genetic predispositions, the benefit in the therapeutic realm is just tremendous,” says David Fleming, MD, chair of the department of internal medicine at the University of Missouri School of Medicine and president-elect of the American College of Physicians.
While some private insurers and Medicaid programs may balk at providing coverage, more genetic tests, including BRCA 1 and 2, are considered preventive services covered under the Affordable Care Act without a copay.
Direct-to-consumer genetic testing, such as 23andMe, is being widely advertised. For $99, patients can receive reports on more than 240 medical conditions and traits. They are seeking advice from their family physicians about how to interpret the test results.
There are only 1,400 physician geneticists and 3,000 certified genetic counselors, according to the American College of Medical Geneticists. Primary care physicians will need to be better prepared on the subject to meet increasing patient demand.
Jolie’s mother died of ovarian cancer at age 56. Genetic testing revealed Jolie has the BRCA 1 mutation and an 87% risk of breast cancer and a 50% risk of ovarian cancer. Jolie’s message was to encourage every woman to seek out “information and medical experts who can help you through this aspect of your life, and to make your own informed choices.”
Dr. Frederick Chen
"If you ask primary care doctors if they know enough about genetics, most will answer ‘no.’ There just aren’t enough genetic counselors.” -Frederick Chen, MD, MPH, associate professor of family medicine, the University of Washington
According to Frederick Chen, MD, MPH, associate professor of family medicine at the University of Washington, a lot more dialogue about genetics and genomics testing will occur in primary care examination rooms around the country. And there is a need for education of physicians and patients.
“If you ask primary care doctors if they know enough about genetics, most will answer no,” says Chen, who worked on the website geneticsinprimarycare.org, representing the American Academy of Family Physicians. “There just aren’t enough genetic counselors. Family doctors are a trusted source for patients and their families. We should know who to call to refer for testing and how to help patients get counseling they need. We must be that conduit and bridge.”
Fleming agrees. “I have the luxury of being able to refer patients to a large genetics group at the university medical center but most physicians don’t have that available,” he says. “By default, much of the discussion about genetics falls to primary care doctors who aren’t trained as counselors. We need to make sure we have as much information as possible about the test we’re recommending before we have substantive discussion with patients. We really need to revamp the curriculum in medical school and training to provide those skills.”
Fear is a main reason patients won’t ask about genetic tests. Some may not want to know the results, presuming a positive result means there’s nothing they can do.
“Patients also are uncertain about whether test results will truly be confidential,” says Gregory Hood, MD, an internist in Lexington, Kentucky, and a Medical Economics editorial adviser. “They worry that their employers may find out, their insurance will be dropped, or they’ll have to pay a higher premium.”
That concern is real despite the Genetic Information Nondiscrimination Act of 2008 that protects patients from being treated unfairly because of DNA information.
“We try to use a genetics clinic that does a lot of discussion and counseling before the test is even ordered,” Hood says. “It’s important to demonstrate to patients that you’ve thought one or two steps beyond just ordering the test, that you’re looking for the best approach to benefit the patient. Taking a good history is still the most important step. Just as we were taught in medical school, when resolving issues with patients, it’s 70% history, 20% examination and 10% testing. The growth in genetic testing doesn’t change that dynamic.”
Genetic testing may be underutilized because it’s expensive. For example, the BRCA test can cost more than $3,000. “The cost is a huge issue,” says W. Gregory Feero, MD, PhD, a family physician and genetics specialist in Fairfield, Maine. “In Maine, 25% of the population is on Medicaid. It’s very difficult to get the state to pay for genetic testing. Large private insurers usually pay for it, realizing that testing could save lives and resources.
“Some physicians won’t always inform patients about testing if they think the individual can’t afford it,” says Feero, who also was chief of the Genomic Healthcare Branch of the National Human Genome Research Institute at the National Institutes of Health. “That’s an ethical dilemma. If I know Medicaid won’t pay, should I recommend it anyway? I always tell patients about the risk and offer them options. You’d hate to have a patient come back and say, ‘I’d have paid for that out of my own pocket if only you’d told me about it.’”
With close to 50 million uninsured people in the United States, Fleming says those without the means don’t have the option to get testing that can positively influence treatment and inform decision-making.
“If you can’t pay for it, you can’t have it. That’s a real issue,” he says.
Dr. David Fleming
We need to make sure we have as much information as possible about the tests we’re recommending before we have substantive discussion with patients.” -David Fleming, MD, chair of the department of internal medicine, the University of Missouri School of Medicine and President-Elect, the American College of Physicians
There is no approved dialogue or template for discussing genetic testing with patients, although there may be soon as the field grows and approaches become more standardized.
Typically, the issue is raised when talking about family history. “I may see a red flag, such as someone in the family affected by cancer at an early age, multiple cancers in the family, or an unusual presentation such as male breast cancer,” Feero says. “Then you try to flush out more family history.
“I’ll talk to the patient about what the red flag could mean, and if appropriate, make a referral to a genetic specialist for more formalized counseling and potential testing,” he adds. “I’ve never ordered a test myself. I tell the patient that counseling can be lengthy. It’s wise to bring a relative with them who knows the family history or may also be affected by the disease.”
It’s important for the patient to inform family members about their testing, and PCPs can often be the conduit for that disclosure. “The doctor can’t reveal it without the patient’s permission. His [or her] information must be confidential,” Chen says. “But we can certainly encourage the patient to reveal it. A good example is with colon cancer. If the patient tests positive for the trait, he [or she] should let family members also at risk know about it. So I’ve said, ‘This is a risk for you but also for other family members.’ If the patient is positive for the gene, you can recommend earlier screening such as a colonoscopy at age 30 for him and family members.”
Fleming agrees. “It’s the patient’s genetic information, and he has the right to withhold it even from family members who might benefit from knowing. We can encourage disclosure but can’t force it. For example, a parent may have a marker for Huntington’s disease which can’t be treated. He may opt against informing his children.”
Dr. W. Gregory Feero
Some physicians won’t always inform patients about testing if they think the individual can’t afford it. That’s an ethical dilemma.
I always tell patients about the risk and offer them options.” -W. Gregory Feero, MD, PhD, family physician and genetics specialist, Fairfield, Maine, and former chief of the Genomic Healthcare Branch of the National Human Genome Research Institute
Patients have myths about testing that need to be debunked.
“Many patients believe that a positive genetic test means they will definitely develop the disease,” Feero says. That’s true in some cases like Huntington’s. But for many conditions, especially cancer, the test shows that the risk is elevated but it doesn’t mean they will develop cancer.”
Another myth is that the test tells the patient everything he or she needs to know about a prognosis, Chen says.
“What we’ve learned is that the interface between genes and environment is complicated. You can’t just say you have a 50% chance of getting diabetes, for example. What you eat, how much you exercise, etc., has an important impact.
“I also worry about patients who get their own gene testing done with a direct to consumer kit,” Chen says. “They think it will give them the answer for all diseases. It’s much more complex than that.”
Feero agrees. “I’ve had only one patient who had a direct-to-consumer test. But I’d tell patients that these panels aren’t very useful for making healthcare decisions.”
The American Medical Association (AMA) has called for greater oversight of these tests as has the U.S. Food and Drug Administration and American Society of Human Genetics.
“Without the benefit of proper medical counseling, patients may spend money on direct-to-consumer genetic tests needlessly or misinterpret the results of the tests, causing them to make unnecessary or unhealthy lifestyle changes,” says AMA President Ardis Dee Hoven, MD.
As demand for genetic testing grows, the healthcare system will need a more effective electronic health record infrastructure.
“It needs to not only store medical information but provide point of care education about the tests primary care doctors will encounter,” Feero says. “It should be set up so that patient handouts can be printed out so the burden isn’t on the physician to keep it all in his head. We’re a long way from doing that right now.”