Health

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

Print  |   Email  |   Respond  |   Reprints  |   Like Facebook  |   Share Twitter  |   Tweet Linkedin

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."

Medication question

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.

Back to top


ADDITIONAL INFORMATION

How genetics and medicine interact

Francis S. Collins, MD, PhD, head of the Human Genome Project, offered the following examples and applications during a lecture last month at the American Academy of Family Physicians scientific sessions in Orlando, Fla.:

Determining who should get screened for what and when A family history of colon cancer, combined with a positive test for the gene implicated in hereditary nonpolyposis colon cancer, could indicate the need for early and vigilant screening tests. Those family members without the mutation can be reassured and go through the same screening recommended for the general population.

Diagnosing certain diseases A family history of various early-onset illnesses, combined with elevated iron levels and a positive genetic test for genes implicated in hemochromatosis, can lead to a diagnosis of that disease. The diagnosis of one patient also can explain the ills of other family members.

Deciding if a treatment course might be effective Genetic testing is already playing a role in determining some cancer therapies and is expected to play a role in treating more common disorders, such as asthma, within the next two years.

Back to top


The singing gene

"D-D-D-D DNA," with lyrics by Francis S. Collins, MD, PhD, tells how genetics could impact the work of family physicians. It's sung to the tune of Del Shannon's "Runaway," and was performed by Dr. Collins last month at the AAFP scientific session.

As I walk along the bases
In all 3 billion places
Upon my PC screen
Am I built for strong endurance?
Or a loss of health insurance?
Am I a mere machine?

Chorus:
I'm a walkin' through the genes
Don't know what all this means
What disease can there be
Behind that "G" and "T"?
And I wonder, wo-wo-wo-wo-wonder
Why, why-why-why-why why I've got an"A"
You've got a "C" there, what does that say?
Amazing DNA, D-D-D-D-DNA.

What's my DNA prognosis
For osteoporosis?
What drugs will work for me?
Yikes! To use this information
I'll need education;
I'll need my family MD!

Repeat Chorus.

Back to top


Some test results must be shared

Experts say maintaining confidentiality and patient trust are two ethical concerns connected to genetic medicine, but there is one specific situation where doctors might feel motivated to violate these principles.

However, this scenario would occur only in the most uncommon of circumstances: When genetic testing uncovers a high risk for disease and the patient refuses to share that information with relatives.

"Seeing a genetic marker for various diseases is just one piece of a larger puzzle," said Michael Goldrich, MD, the chair of the AMA Council on Ethical and Judicial Affairs. "It's the rare piece of genetic information that shows immediate and substantial risk. If you don't have those two pieces, there's no basis for breaking the bond of confidentiality."

Dr. Goldrich said a genetic marker for Huntington's disease is "usually the one people point to" as providing proof of substantial risk. But both he and Dan W. Brock, PhD, director of Harvard Medical School's Division of Medical Ethics, said most patients will share knowledge of this risk with their families.

"There's not a lot of data on that, but I would expect that to be the case," Dr. Brock said. "In most nondysfunctional families, most have concern about other family members and wouldn't want to visit harm on them."

The AMA Code of Medical Ethics opinion on disclosure of familial risk notes that it's a physician's professional duty to keep genetic information confidential. Prior to testing, however, it states that doctors should identify circumstances in which patients would be expected to notify relatives about the findings of their tests.

Privacy and patient trust have such high status that the code suggests it might be necessary to keep genetic test results in separate files so they are not inadvertently included when insurance company requests for medical records are fulfilled.

--Andis Robeznieks

Back to top


External links

"Genomics and the family physician: Realizing the potential," American Academy of Family Physicians annual scientific assembly, Oct. 13 (link)

AMA on genetics and molecular medicine (link)

American Academy of Family Physicians' Annual Clinical Focus for 2005, genomics (link)

Back to top


ADVERTISEMENT

ADVERTISE HERE


Featured
Read story

Confronting bias against obese patients

Medical educators are starting to raise awareness about how weight-related stigma can impair patient-physician communication and the treatment of obesity. Read story


Read story

Goodbye

American Medical News is ceasing publication after 55 years of serving physicians by keeping them informed of their rapidly changing profession. Read story


Read story

Policing medical practice employees after work

Doctors can try to regulate staff actions outside the office, but they must watch what they try to stamp out and how they do it. Read story


Read story

Diabetes prevention: Set on a course for lifestyle change

The YMCA's evidence-based program is helping prediabetic patients eat right, get active and lose weight. Read story


Read story

Medicaid's muddled preventive care picture

The health system reform law promises no-cost coverage of a lengthy list of screenings and other prevention services, but some beneficiaries still might miss out. Read story


Read story

How to get tax breaks for your medical practice

Federal, state and local governments offer doctors incentives because practices are recognized as economic engines. But physicians must know how and where to find them. Read story


Read story

Advance pay ACOs: A down payment on Medicare's future

Accountable care organizations that pay doctors up-front bring practice improvements, but it's unclear yet if program actuaries will see a return on investment. Read story


Read story

Physician liability: Your team, your legal risk

When health care team members drop the ball, it's often doctors who end up in court. How can physicians improve such care and avoid risks? Read story

  • Stay informed
  • Twitter
  • Facebook
  • RSS
  • LinkedIn