Genetic testing issues land in primary care practices
■ With more patients asking about such tests, experts say primary care doctors will lead the genomic medicine revolution.
By Victoria Stagg Elliott — Posted Nov. 8, 2004
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In the past year, Rebecca T. Cherry, MD, a family physician from Kettering, Ohio, has struggled with counseling a patient with breast cancer.
The challenge stems from a combination of complexities Dr. Cherry has not encountered before. First, the patient has a family history of breast cancer. Second, testing for the genetic mutation that makes her more susceptible to this cancer as well as ovarian cancer is more available than ever.
It has led the patient to wonder if she should be tested. Dr. Cherry wonders, too. "Mostly, what I've been telling her so far is, I don't know."
Dr. Cherry was one of the many family physicians at the American Academy of Family Physicians scientific sessions last month in Orlando, Fla., who attended lectures about genetic issues. Both genetic testing and the difficult patient decisions surrounding it are increasingly becoming a part of their practices.
"It's not a big part of my practice right now, but it's becoming bigger as more patients realize certain diseases are hereditary," said Eric Schertzer, MD, a family physician from Plantation, Fla.
The issue has long been the subject of AMA policy, which states that genetic susceptibility testing should be performed only with comprehensive pre- and posttest counseling and that physicians should refer to specialized centers as needed. Any such counseling should include information about the implications for relatives and the fact that, in some situations, information would need to be shared.
But in practice, many doctors see that good policy does not necessarily make for smooth integration.
"Genomic knowledge is going to be far ahead of wisdom for a long time," said Nancy Stevens, MD, associate professor of family medicine at the University of Washington. She is also medical director of the AAFP's clinical focus for 2005, which will offer a dozen continuing medical education units on genomics.
Various genetic medicine CME and other physician resources also are available from the AMA, including an interactive medical laboratory virtual clinic focusing on genetics in clinical practice (link).
Too much information?
Physicians complained that the medical record was insufficient to handle genetic information. Discerning a good family tree, an old tool with increasing use in the genetic medicine age, might not be possible because of death, divorce and adoption. And access to an abundance of information and resources still doesn't make for an easy choice.
For example, Dr. Cherry's patient has spent months seeking guidance from genetic counselors, specialists and, mostly, Dr. Cherry. Nonetheless, the patient has not been able to come to a conclusion. If she gets tested, she might or might not have her ovaries removed and take other drastic action to reduce the chance of cancer. The results also have the potential to impact the quality of life and health care decisions of her two daughters, one of whom has had skin cancer. The decision could reverberate even further.
"She's terrified for her two teenage daughters and potential grandchildren," Dr. Cherry said. "And she's getting all kinds of mixed messages about whether she should get tested."
Just a few years ago, this situation was unheard of in most primary care physicians' offices, and genetics was mostly a matter of headlines and speculation about its promise. But genetic medicine experts predict that this trickle of patients with genetic quandaries will soon turn into a flood.
"This idea of the study of the genome is not some distant goal that might affect some future physician," said Francis S. Collins, MD, PhD, head of the Human Genome Project, during his keynote address at the AAFP meeting. "This is something that is happening now."
The number and uses of tests available are increasing. Meanwhile, the U.S. Surgeon General's Office is launching a November initiative to encourage patients to collect an extensive family history and take it to their physicians. The Centers for Disease Control and Prevention is expected to launch its own project next year.
"[Physicians] will be hearing a lot more about this from their patients," said Paula Yoon, ScD, MPH, epidemiologist at the CDC Office of Genomics.
To most experts, this filtration of genetics into primary care is necessary for genomic medicine to fulfill its promise. Genetic counselors are not always accessible or available.
Experts also say that the characteristics of the family physician medical practice make it particularly well suited for genetics.
"People really are going to need our help," Dr. Stevens said. "Even with a genetics professional involved, they need us for context. They need us to initiate the call and filter the information."
Experts also point out that although many physicians are already dealing with the small number of patients who are in a quandary about whether to get genetic testing to determine disease risk, they also could soon be dealing with testing patients to determine the response to certain medications.
In his talk at the AAFP meeting, Dr. Collins cited several studies that found differing effects of the asthma drug albuterol, the blood thinner coumadin and several psychotropic drugs based on the patient's genetic makeup. He expects such information to work its way into practice soon.
"Do not be surprised if in the next year or two, this kind of DNA testing will be considered as a necessary step before writing a prescription," he said.
But while there is agreement that the genetic medicine revolution has clearly begun, many say that for it to continue, legislation is needed to ensure that the information does not unnecessarily harm patients.
"The vexing problem of genetic discrimination right now causes many members of the public to be hesitant about getting this information because of concerns that they might lose their health insurance coverage or their job," Dr. Collins said. "This needs a federal regulatory solution."
AMA policy states that health insurance companies should be prohibited from using genetic information or the fact that a person has been tested, no matter what the results, to refuse or limit coverage.