New master's degree program for genetic counseling

Steve Gladfelter/VAS

Joanne Taylor counsels people about the risks that genetic tests may have revealed. About 90 percent of the time, the news is good, but the remainder often requires presenting people with challenging decisions, she says.

Veronica Moran-Diaz was only 24 when she was diagnosed with colon cancer, the same disease that had killed her mother the year before. Suspecting a link, her doctor referred her to Stanford Hospital, where genetic counselor Kerry Kingham, MS, suggested she be tested for a newly discovered gene that carries an 80 percent lifetime risk of colon cancer and a 50 percent chance of uterine cancer. Moran-Diaz agreed to the test and when the result came back positive, she talked with Kingham about her options.

"Just being able to speak about your fears and how it affects your family was very helpful," said Moran-Diaz, who's now 39, healthy and living in San Bruno, Calif. "You feel a lot of relief, knowing what can happen and what can be done to prevent it so you're not as fearful."

The job of the genetic counselor is to help patients negotiate what can be a minefield of complex information about their genetic heritage. Yet there remains a serious shortage of these trained professionals, both nationally and locally, as existing training programs are unable to turn out enough graduates to meet growing demand, said Louanne Hudgins, MD, professor of pediatrics and a specialist in clinical genetics.

The School of Medicine is responding with a new master's degree program—the only one of its kind in Northern California and one of four in the western United States—that will train six genetic counselors each year. The two-year program is expected to begin in the fall of 2007.

The program is a collaboration between the Department of Genetics and the Department of Pediatrics and will be a key part of the medical school's effort to transfer knowledge from the lab into clinical practice, said Hudgins, the director of perinatal genetics at Lucile Packard Children's Hospital who will also serve as medical director of the new master's program.

The program will help meet the demand at a time when there is an explosion of knowledge about the human genome, which has led to a plethora of new genetic tests to help determine whether a patient is at risk for a potentially fatal condition.

"It continues to get more complicated as we discover more and more. It's challenging for patients: How do I sort through all these tests and decisions? We're constantly adding to this new reservoir of information," said Joanne Taylor, MS, genetic counselor at Packard Children's Hospital and one of 14 such counselors at Stanford.

When cancer genetics counselor Nicki Chun, MS, received her counseling degree in 1982, there were only six training programs in the country—there are now 30—and the field of cancer genetics didn't even exist. Two of the genes that occupy much of her attention now, the BRCA1 and BRCA2 genes that are known to cause breast cancer, weren't even sequenced until 1994 and 1995, respectively.

Initially, counselors like Chun had little to offer women who were found to carry these two cancer genes. Many at-risk women would choose to have their breasts removed to avoid the disease altogether. Today, however, the technology has advanced, and these women can opt instead for periodic breast MRIs—considered a reliable screening tool—at a specialty medical center such as Stanford. Of the women Chun now counsels, she said about three-quarters of those with the breast cancer genes choose screening over radical surgery.

But the counselor's role is not to advocate one option over the other, noted Taylor, who works in the prenatal counseling program. Rather, counselors educate patients and present them with options in a nondirective fashion. "It's an approach that gets away from the paternalistic side of medicine," she said.

She said 90 percent of the time she is able to give patients good news. "It's the other part—the 10 percent—that's more challenging. That's why our profession is so important because we have to help people through a difficult time in their lives when they may not have support."

It is her job, she said, to put results in perspective. If there's a 1 percent risk of a problem, she emphasizes the 99 percent chance that nothing will occur. "Part of our job is to put an optimistic twist so that anxiety doesn't override people and make them miserable," she said.

Nonetheless, Taylor noted that patients may view their risks in different ways. For instance, a woman who conceived through in vitro fertilization on the fifth try might view a 1-in-300 risk of miscarriage due to amniocentesis as intolerably high, while a 25-year-old woman who conceived naturally might find the risk perfectly acceptable. "Everyone is different, and they need to decide what is best for them, based on their circumstances," she said.

In Moran-Diaz' case, her family members chose to deal with their risks in different ways. Although three of her five sisters developed colon cancer, they chose not to be tested for the gene, known officially as hereditary nonpolyposis colon cancer or HNPCC. Another sister had her colon removed as a preventive measure. Only her youngest sister was tested, and she proved to be negative.

Moran-Diaz wanted to know her genetic status, not only for herself but for the sake of her three children, who could also be tested, if necessary.

"It's hard, but I wanted to know," she said. "At least I know I have to be more cautious in making sure I get whatever tests are needed. If it's caught early, it can be taken care of. With my mother, it was too late."

Moran-Diaz had surgery in her 20s, when a portion of her colon was removed, but she now has a clean bill of health and goes for regular colonoscopies. Her oldest son, who is 10, was recently tested for the HNPCC gene and, to her relief, the result was negative.

HNPCC is one of the few high-risk cancer syndromes in which patients have a good, preventive option, said James Ford, MD, assistant professor of medicine and cancer geneticist. For instance, people who inherit another form of colon cancer, called familial adenomatous polyposis, may develop thousands of pre-cancerous polyps in their teenage years. Their only choice for avoiding the full-blown disease is to have the colon removed, he said.

Those with the HNPCC syndrome, on the other hand, can opt to have regular screening tests, which can effectively detect developing tumors. "Here's an instance where having knowledge can have a big impact," Ford said.

Helping patients deal with new knowledge will become all the more critical in the next decade or two, Ford said, as scientists begin to understand the complex mix of genes that contribute to common conditions such as diabetes and heart disease.

"How do you sort through the information? Internists are not trained to do complex genetics. So we need people to interpret the information," he said. "A huge role for genetic counselors will be to serve as intermediaries between primary-care doctors and patients. So it's a great opportunity to train leaders in the field."