Treasure Map
Advances in genetics open new opportunities for nurses, as more areas of practice incorporate the burgeoning science into patient care and research

By Glen Fest
December 10, 2003

Each year, more than 1,300 Type 1 diabetes patients have the rare opportunity for a life free of insulin dependence through a pancreas transplant. For one in five, ultimate liberation arrives only after a difficult fight against rejection-and sometimes after a second transplant, if they are fortunate enough to find another donor.

Clinicians watching for acute rejection depend on blood and urine tests for early detection, but Ann Cashion, Ph.D., RN, is looking for a new assessment-one that can be faster, more accurate and may help prevent the loss of rare donor organs. Her search is taking her through the field of genetics, looking for early clues of donor pancreas rejection from antibody-producing white cells.

"The earlier we identify people having problems with a transplant organ, potentially they would not have acute rejection episodes," said Cashion, who heads a research team at the University of Tennessee Health Science Center, College of Nursing in Memphis.

Six months ago, this type of research would have been impossible for Cashion-not because of a lack of scientific progress in molecular biology, but because Cashion's own advancement in knowledge was relatively recent.

After a lengthy 20-year career in ICU nursing, research and teaching, she had her first strong dose in genetics just this summer through an accelerated nursing education program on the campus of the National Institutes of Health in Bethesda, Md.

"It was a catalyst for my research," Cashion said. "I could not have even considered doing [research] without that."

Cashion, like many nurses, is discovering that genetics has a far greater reach than she had imagined. More areas and levels of practice are incorporating genetics, with some fields like oncology or pediatric nursing requiring the science as a core knowledge competency.

Research is spreading to incorporate genetics into general nursing education and prepare for expected future demand for genetic counseling and testing services. More nurses today also are seeking out continuing education and recognized credentials in genetics.

After years of promise and possibilities, at a time when the human genome finally has been mapped, experts say genetics is likely to become a staple throughout nursing practice-if it isn't already.

"Genetic nurses are everywhere," said Jean Anderson, executive director of the International Society of Nurses in Genetics. "Although someone doesn't recognize themselves as genetic nurse, they have a responsibility to keep informed and understand genetics on a basic level."

"I don't think it's [just] a core competency for a specialty," said Kathleen Calzone, MSN, APNG, RN, a nursing research specialist at the NIH-affiliated National Institute of Nursing Research in Bethesda, Md. "I think genetics is a core competency for nursing, just as one would expect somebody to understand basic physiology as a core to be a nurse at any level, from an AD to a Ph.D."

All mapped out

The spring 2003 completion of the federally funded Human Genome Project meant science had identified the estimated 30,000 genes in human DNA, including a determination of the sequence of the more than 3 billion chemical base pairs (known as A,C,G and T) that combine DNA strands. The announcement coincided with the 50th anniversary of the Nobel Prize-winning discovery by James Watson and Francis Crick of the DNA double helix design.

The genome project gave science the blueprint of the 24 human chromosomes, an achievement considered unlikely by all but the most wildly optimistic supporters when proposed in the mid-1980s.

A joint venture of the NIH and the U.S. Department of Energy, the project launched in 1990 was preceded by years of debate about both its near impossibility (not even simple bacteria had been decoded at that time) and problematic ethical and social issues. Even the project's scientific value was debatable, according to Science magazine, as some questioned the need for knowing every human genomic base sequence when so many are composed of "junk" chains that do not code for genes.

But the genome project has proved to be a revolution in research and care, as "it provides a framework for how you begin to discover the genetic impact and basis of certain diseases and certain kinds of health impacts," Calzone said.

"Most people may think of genetics as being associated with only … single-gene disorders like breast-ovarian cancer syndromes associated with BRCA1 and BRCA2 mutations," Calzone said. Rather, disease is an "accumulation of genetic changes that are associated with controlling the function of the cell ... and, increasingly, that information is being used diagnostically to predict who may or who may not have a recurrence, or whether people will or will not respond to certain kinds of treatments."

According to Melinda Tinkle, Ph.D., RN, the intramural director for research and training at the research institute, the completion of the genome project "means we have a better understanding of the biology of the disease or the actual mechanisms by which disease happens."

According to the research institute, nine of the 10 leading causes of death in the United States have proved to have some genetic components or factors. Heart disease, diabetes and cancer are at the center of several studies trying to identify genes that-although perhaps not the cause of the disease itself-may be indicators of susceptibility to environmental or lifestyle factors, such as: "Why does being fat for one person not result in heart disease, but it does for another?" Calzone said.

Several groups and organizations, like the research institute, believe that nursing research can play a key role in the study of genes and their functions, or genomics. Cashion's three-year genetics research grant is among several backed by the institute, which strives to give nurse researchers the tools to expand clinical genetics practice. The institute's Summer Genetics Institute-or "gene boot camp," as it is commonly referred-has graduated nearly 50 nurses during the past five years, according to Tinkle.

The summer program culls genomic experts from nearby Georgetown and John Hopkins universities to deliver two months of classroom and laboratory instruction in molecular genetics to visiting nurse researchers, educators and advanced practice specialists. Similar fast-paced summer programs on genetics at Duke University and Cincinnati Children's Hospital Medical Center teach the genetics fundamentals for nursing faculty.

Tinkle said the institute's program covers genetic testing, detection of genetic disease and ethical and legal issues. "We're trying to jump-start their research," Tinkle said. "I would say the lab experience and doing some of the basic molecular techniques are the real eye-openers for them ... getting a firsthand experience in a lab where they have a better appreciation of what a gene test really might look like."

Cashion said the program's hands-on techniques lent her a new view that established her credentials for experienced lab personnel back at Tennessee. "I would have been apprehensive to approach the science teams at UT," Cashion said. "It's not a nurse team."

Research like Cashion's may have multidisciplinary benefits, but is aimed at nursing practice. Rather than a narrow focus on scientific achievement, Cashion's primary research goal is to improve patient care. "I come to my research project as a nurse and as a patient advocate, and I want to make sure that the patient will be affected by my program or research," Cashion said.

The effect on patients is a driving force behind many nursing genetics studies. A study examining the link with colorectal cancer to a genetic mutation found in 5 percent to 10 percent of all cases is concerned with not only tracking inherited risk factors, but in determining patient psychosocial matters.

Jean Jenkins, Ph.D., RN, FAAN, a clinical nurse specialist consultant with the NIH's National Cancer Institute, said her study measures personal feelings about how the results of genetic testing affect individuals and families. How do they react to the exposure of a threat that might not manifest for decades, if ever? Do they tell their family members, who also might be at risk? Will they avoid future testing to avoid bad news?

"Basically, how does it make them feel long term?" asked Jenkins, who is also a consultant with the National Human Genome Research Institute.

Code of ethics

The studies in social concerns with genetics have long coincided with the laboratory advances of the science. A companion ethics program was launched alongside the Human Genome Project to study the ramifications of scientific knowledge of genetics. Just this year, Congress passed a long-delayed bill that prohibits discrimination on the basis of genetics to quell privacy fears.

Calzone said ethics and related psychosocial research have been a multidisciplinary effort of nurses, behavioral psychologists and genetic counselors examining the outcomes of genetic testing. In a report she co-authored in the June MEDSURG Nursing journal, Jenkins wrote that genetic tools used by nurse researchers not only enhance the clinician's ability to interpret test results, "but assist patients and families with decision-making."

"Genetics is only one piece of the pie," Jenkins said. "You have lifestyles and you have behaviors. So a lot of what the nurse needs to do is help them understand this is not a black-and-white technology. It's still learning as we go in terms of what other genes may be out there that may influence this risk, or finding other genes that are indeed responsible."

Patients found to be at risk for colorectal cancer, Jenkins said, may need counseling for strategies in how to approach other family members who may be sick. Re-tests may be necessary to confirm positives or to correct mistakes. Patients also may need help in navigating insurance restrictions if procedures such as a colonoscopy are involved.

In the burgeoning area of pharmocogenomics, or targeted drug therapy, medications and dosages are delivered based on a patient's genetic markers [see "Molecular Matrix," NURSEWEEK, June 30].

Patients also may need reassuring about what it means to live with risk, and nurses are the natural outlet, said Dale Halsey Lea, MPH, APNG, RN, FAAN, a nursing consultant who has been working for the University of Maryland constructing strategies for building a genetics-trained health care workforce. "I think certainly patients are going to be talking more to nurses about their concerns, privacy and the long-term meaning of some of this information," Lea said. "How's that going to affect a patient's well-being? And how are nurses going to deal with things like [patient] screening fatigue? What we'll do is help people live with their conditions."

Stamp of approval

Since 1988, the International Society of Nurses in Genetics has worked to expand credentials for genetic researchers and instructors in nursing, Anderson said. Just within the last two years, the American Nurses Association began recognizing an advanced practice genetics nurse credential supported by ISONG. These are in addition to the knowledge and skill core competencies for genetics practice established in 2000 by the multidisciplinary National Coalition for Health Professional Education in Genetics.

With these professional avenues opening, collegiate nursing schools are starting to recognize the new career options for students. At the University of California, San Francisco, for instance, the School of Nursing offers master's-level programs in advanced practice genomics for oncology, gerontology and cardiology.

But otherwise, many schools, hospitals and some nurse specialty associations have been slow to adopt genetics instruction, said many of the experts. "There has to be a recognition by the profession that this genetic information is going to be important for the care that we provide for the future, and that hasn't happened yet," Jenkins said.

Lea said she would like to see hospitals and institutions adopt requirements for CE in genetics like it does for CPR, infectious disease "and even electrical safety. I think with the 'newness' of this field, it ought to be a requirement that nurses get updated … on genetics, broken down into areas like pediatrics, adult and prenatal."

Constant change

"Genetics can be a real fun field," Anderson said. "It can be a real challenge because it's interesting, ever-changing. And nobody can know everything about it … because it's continually changing, anyway."

The idea that science and nursing have only scratched the surface with genetics is an understatement. With the release of any research paper or study, critical new information could be released in any given specialty of genetics nursing. In covering the bases of her cancer specialty (hereditary nonpolyposis colorectal cancer), Jenkins said one of her top challenges is merely keeping up with the literature.

"I've been doing counseling and education for seven years, and I just learned there's another HNPCC mutation that I've never heard of before," Jenkins said. "It's [changing] daily.

"People keep saying it's not going to be here for another five to 10 years. Well, it's here. It's just a matter of being able to translate it into practice," Jenkins said. "And when you combine that with costs and economy and the way you don't have much time to provide health care these days, or the resources to provide it, it just compounds the problem of getting it into clinical practice to make the best benefit."

As with other areas of nursing practice, genetics nursing must contend with the persistent nursing shortage across the country. As far as the science takes genetics nursing, it could be severely restricted by the limited number of specialists and RNs capable of instituting it. But some genetics specialists hold out hope that genetics-based nursing could prove to be a tonic to the shortage, rather than exacerbate it.

"My vision is that genetics is going to change the focus on the shortage," Lea said. "Because it will be an exciting part of nursing, it will drive more individuals into nursing. That may be wishful thinking, but I think that may happen."

Contact Glen Fest at glenf@nurseweek.com