Counseling for Genetic Insight SPEND/THRIFT

Lauren John, a San Francisco Bay area resident, contracted breast cancer in 1994. Halfway through her treatment she learned of an emerging medical service known as genetic counseling. The service, as John would come to learn, helps patients and their families better understand the nature of genetically transferred health disorders and how they can be treated, monitored and in some cases prevented. It was just the sort of insight John was looking for upon completing her final cancer treatment in 1999. “I thought it could help me figure out what sort of post-treatment follow-up to do and how to monitor the disease in the future,” she said. At her first consultation, the counselor mapped out John’s medical family tree, going as far back as records existed. John, an American of Ashkenazi Jewish descent, immediately fell into a risk category for cancer. There was a maternal aunt who had gotten breast cancer but who was able to recover from it. A second cousin, however, had had an aggressive form of the cancer in her thirties and later died.

After seeing John’s history, the counselor recommended that she get a blood test. The sample would be used to examine her DNA, isolating two genes, BRCA1 and BRCA2, most commonly known to carry the defect that leads to breast cancer. The test revealed that John did not have the defect on her gene. Though she will never know why she got breast cancer or whether it will come back, she remains grateful it introduced her to genetic counseling. “I was much better informed about the steps I needed to take and monitor the disease based on my family history,” she said. “I found out it probably wasn’t necessary to take preventive steps like removing my ovaries or having a breast removed.”"People have been counseling one another on their genetic history since biblical times,” said Kelly Ormond, president of the National Society of Genetic Counselors and an associate professor of genetic medicine at Northwestern University in Chicago. Genetic counseling, as a medical profession, originated in the 1960s, when doctors first began prenatal testing for genetic defects through amniocentesis. Today, there are 1,200 types of genetic tests covering a wide range of disorders, including neurological diseases like Alzheimer’s and Huntington’s.

The popularity of such counsel is rising steadily. The group estimated that last year Americans paid 1.2 million clinical visits to genetic counselors. That figure has been increasing by 5 percent annually over the past five years, Ormond said. In the United States, genetic counselors typically have specialized graduate degrees and experience in medical genetics and counseling. They enter the field from many disciplines, including biology, genetics, nursing, psychology, public health and social work. While genetic counseling is widespread, the qualifying criteria for counselors vary widely by country. Outside Britain and Australia, which have well-established networks, Ormond said, the job often still falls to traditional physicians and nurses. In the United States, Ormond said, genetic counseling tends to be billed like a standard doctor’s consultation at around $100. Genetic tests, which can be done at the session or later, can cost from $200 to several thousand dollars, depending on how difficult it is to find the defect, she said. Genetic counseling, at least in America, is now regularly covered by insurers, which will also cover tests in many cases, Ormond said. Still, many patients do not want to submit bills for reimbursement for fear of how it might affect their coverage. Such was the case with John, who said she paid about $500 out of pocket for her tests. “The law was sort of vague about how the information might be used by an insurer,” she said.

According to a report published online by the Lynn Sage Breast Cancer Program at Northwestern University, under the U.S. Federal Health Insurance Portability and Accountability Act implemented in 1997, genetic information cannot be considered a preexisting condition. As such, insurers “cannot refuse to renew or continue coverage because of genetic information.” But the law does not provide any guidelines to keep insurers from raising premiums. And it does not protect against unauthorized access to genetic information. Genetic counseling does have its limits. “It provides additional information,” Ormond said. “Sometimes it is definitive and sometimes it is not.” She added, “You can be at risk for breast cancer but that doesn’t mean you will get it.” It is because of this ambiguity that genetic counseling is such an important adjunct to testing. John, who writes for a San Francisco-based breast cancer advocacy group, Breast Cancer Action, recently published an article on the emergence of Internet companies like DNA Direct Services that market at-home genetic testing and counseling services via computer. “You have all these worried well people clamoring for tests,” she said, “who have no clue what to do with the information once they get it.” Ormond suggested that people considering genetic counseling or testing begin first by examining their own family medical tree. If there is enough recurring illness across generations, then a visit to a counselor could be in order. Many people, after visiting the counselor, decide not to go further, either because it seems unnecessary or it is just too scary. Ormond cited several cases where clients came to her seeking genetic counseling for a presymptomatic disease only to decide not to do the testing. “You have to think of how the information is going to affect you, your job decisions and relationships,” she said. “There’s a lot more than just having the test itself. People don’t always want to think that through.”