By Pat Muccigrosso, contributor
September 24, 2010 - It started simply enough with one man’s curiosity and some peas. Gregor Mendel, an Austrian monk, conducted breeding experiments with garden peas that led him to formulate the basic laws of heredity and give birth to the science of genetics.
The National Human Genome Research Institute works to facilitate and accelerate the pace of biomedical research. Image credit: Jane Ades, NHGRI
Mendel published his findings in 1866, but it would be more than 100 years before the theory of dominant and recessive genes would lead to the Human Genome Project and an explosion of knowledge about genetics. That knowledge is giving birth to personalized medicine with the potential to change nearly every aspect of health care in the United States.
For most major diseases, personalized medicine is still a promise on the horizon, but for cancer, it’s already being realized at major health care centers like Dana-Farber Cancer Institute and Massachusetts General Hospital (MGH), both located in Boston, Mass., the medical equivalent of Silicon Valley.
“We know so much more scientifically now than we did, more about genetic make-up, personalized medicine and targeted therapy,” said Karen Schulte, MSN, ANP-BCOCN, director of clinical trials, nursing operations and professional development at Dana Farber. “A lot of that work is coming out of the Human Genome Project as well as our own labs -- customizing your treatment to your particular cell make-up.”
“We have developed a real expertise in trying to target specific pathways that are activated by genetic mutations,” added David Ryan, M.D., clinical director, MGH Cancer Center. “We are very focused on this because we think the next generation of cancer medicine is going to be about grouping cancers around the different types of mutations they have rather than the location where they started.”
Suzanne Mahon, DNSc, RN, AOCN, APNG(c), Saint Louis University, predicts that personalized medicine is going to change the way nurses practice.
At top cancer hospitals across the country, medicine based on genetics is becoming more commonplace. But for most nurses, genetics isn’t even integrated into their education, let alone their practice.
“It’s going to change the way we practice, but in most schools, there’s not even a full course on genetics. There’s a little piece in this lecture and a little in another. Nowhere is it integrated like physiology class or pharmacology,” explained Suzanne Mahon, DNSc, RN, AOCN, APNG(c), assistant clinical professor of the division of hematology and oncology at Saint Louis University. “But if you look at where medicine is going, clearly nurses need to understand genetics both at the cellular and biology level as well as at a clinical level and how that changes care.”
“Genetics is basic information people should feel comfortable with. The challenge we have is the science of medicine is changing and because of that, all health care providers must have some specific understanding of the basics that are going to apply to patient care,” said Michael A. Rackover, PA-C, MS, associate program director and associate professor, physician assistant program at Philadelphia University.
Alyson Krokosky, MS, NCHPEG, reports that there are over 6,000 genetic conditions and outlines several information resources for nurses.
Rackover, who is also a consultant to the National Human Genome Research Institute (NHGRI), said, “The real question is trying to figure out how much genetics you really need to know to feel comfortable taking proper care of patients.”
The answer to that question is a little tricky, noted Alyson Krokosky, MS. “The field of genetics is constantly growing. With over 6,000 genetic conditions out there, it’s hard to be the expert on any one condition.” Krokosky, who is the genetic resources and service manager at the National Coalition for Health Professional Education in Genetics (NCHPEG), added, “But having some background knowledge in terms of inheritance and the fundamentals of biology, understanding such things as the importance of taking a family history will be important for everyone, nurses included.”
These experts in the genetics field agreed that nurses need basic knowledge, but they don’t have to dive into the deep end of the gene pool to get started. In fact, personalized medicine is common sense, said Rackover. “We need them each to have better knowledge of individual health and family history to help think about the future and plan appropriately.”
“It doesn’t have to be high-tech,” added Mahon. “Generally, nurses who are interfacing with patients need to be able to identify which individuals or families might be at risk. They certainly need to ask about the family history and risk factors and then know when to refer them.”
“One of the best ways for some individuals to enter into genetics is to really take a look into family history,” Krokosky agreed. She also offered some additional resources for nurses who want to start learning how genetics applies to their practice (see below). “There have been a number of tools developed that give a bit of an introduction and why they might want to learn about genetics, and to tie them back into health on a day-to-day basis.”
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