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Genetics Expert Panel Call to Action

The promise of incorporating new and evolving technologies has resulted from the increased knowledge in genetics and genomics, and the focus of treatment in health care related to personalized medicine. Nurses, particularly advance practice registered nurses (APRNs), are challenged to engage in interventions that incorporate genomics into all aspects of patient care. The fields of pharmacogenetics (the study of genetic influence on both pharmacokinetics and pharmacodynamics), are new areas of importance for APRNs to understand the variability of patients’ drug responses that may be a function of underlying biology. As nurses are essential members of the interdisciplinary health care team, their roles will involve patient and family education regarding the individualized treatments and how future advances in genomics may guide and impact decision making and self-management choices for them. Members of the Genetics Expert Panel of the American Academy of Nursing (AAN), in a recent article published in Nursing Outlook, discuss opportunities for action to increase APRN research contributions toward improving genomic health for the public.

Dr. Janet Williams and her co-authors (M. Katapodi, A. Starkweather, L. Badzek, A. Cashion, B. Coleman, M. Fu, D. Lyon, M. Weaver, and K. Hickey) recently published “Genetics Expert Panel Call to Action” in Nursing Outlook, describing the integration of genomics in health care. They called for four critical areas for action,  including: (1) bolstering genomic-focused APRN practice, research and education efforts; (2) deriving new knowledge about disease biology, risk assessment, treatment efficacy, drug safety, and self-management; (3) improving use of resources and systems that combine genomic information with other health care data; and (4) advocating for patient and family benefits and equitable access to genomic health care resources. The article concludes with a set of policy recommendations in this new era of personalized medicine based on the announcement of the United States Precision Medicine Initiative and the new efforts launched by the National Institutes of Health on Precision Medicine.

The U.S. Precision Medicine Initiative (PMI) aims at finding the right treatment for the right patient at the right time. President Obama’s “Precision Medicine Initiative (PMI),” was launched with a $215 million investment in the President’s 2016 Budget to pioneer patient-powered research and therapies designed as tailored treatments based on genomics for cancer and other diseases. “Through advances in research, technology and policies that empower patients, the PMI will enable a new era of medicine in which researchers, providers and patients work together to develop individualized care” is part of the $130 million NIH cohort program to build a national, large-scale research participant group, called a cohort, and $70 million allocated to the National Cancer Institute to lead efforts in cancer genomics as part of PMI for Oncology.

We interviewed Dr. Williams to discuss the relevance of this paradigm shift that has broadened all aspects of health care and how it affects nursing, especially advance practice nurses. In the interview, she addresses some of the practical questions that nurses might ask to begin their understanding of genomics and how the personalized medicine and the Precision Medicine Initiative may impact on care.

Janet K. Williams, Professor of Nursing, is a Genetics Nurse Specialist and is a PNP and a Genetic Counselor. She is the Chair of the University of Iowa Behavioral and Social Science Institutional Review Board. She directed the Clinical Genetics Nursing Research Postdoctoral Fellowship program, funded by the National Institute of Nursing Research (NINR). Her research has been funded by institutional grants, NINR, NHGRI, HRSA, and the  CHDI Foundation. Dr. Williams conducts research on day to day function in people with prodromal Huntington disease, family caregiving by adults and adolescents for persons with Huntington disease, and ethical issues in disclosure of secondary findings from genomic analysis in clinical and research settings. She is the past president of the International Society of Nurses in Genetics and is a consultant on national and international projects to promote research, education, and practice of nurses regarding genetics.

Dr. Williams is also the American Academy of Nursing’s (AAN) representative to the Institute of Medicine’s Roundtable on Translating Genomic-Based Research for Health. We asked her to elaborate on her recent article by answering 3 Questions!

Veronica D. Feeg, PhD, RN, FAAN
Editor/Moderator

We invite commentary that is thoughtful and provocative! Join the online dialogue!

Janet Williams

 

 

 

Janet K. Williams, PhD, FAAN, PNP, RN, Professor, University of Iowa

 

 

Question 1.  Why are genetics Expert Panel members interested in Precision Medicine? How does this pertain to the IOM Roundtable work?

Nurses have been interested in genomic advances for quite some time. However, with the announcement of the “Precision Medicine Initiative,” the Expert Panel realized that there may be new opportunities for nurses to be engaged in ways to make genomic discoveries meaningful to individual patients.  And so, the expert panel came together to put forth some priorities that they felt would be important as nurses prepare for the future implementation of “precision medicine.”   The roundtable has been investigating some issues that will be important as discoveries make their way into clinical practice.  It has looked at the importance of evidence; the importance of educational preparation for healthcare providers including nurses (and most specifically advanced practice nurses); and the importance of implementation science as we look at how discoveries make their way into clinical practice. The paper that we put together brings forth some of the issues around these three themes:  evidence, an educated workforce, and systems that have the capacity to obtain and maintain and share data from individual patient records that can be useful as further discovery goes forth.

Question 2. What issues pertain to nurses? How does it relate to patient understanding of the purpose and use of genetic tests?

Nurses encounter patients and their genetic healthcare information in a lot of ways. We particularly are concerned about the advanced practice nurse who is often the frontline provider for many people in our society, as well as those who are in medical specialty units, for example in oncology or cardiology programs.  Nurses, regardless of whether they are advance practice nurses or nurses in general practice, will probably in the future have an opportunity to be informed about genomic advances that have to do with drug development: the matching of the right drug for the right dose for the right patient.  This is one of the, in general, one of the goals that is in the “Precision Medicine Initiative,” and nurses will need to understand why a particular genomic test might be appropriate for an individual and why a certain drug or dose may be different for that individual than for someone else with the same clinical diagnosis.  And I think, most importantly, nurses are often the individuals who assess whether or not the patient understands all of this and if this information is comfortable for the patient, so that they are in agreement with their treatment plan and the particular medicine regime that they are on.

Question 3. What should nurses do now in relation to genomic education?

There are so many opportunities for nurses to use genomic information. I’ve already described one of them for advance practice nurses.  In many states they have prescription privileges and they will be involved in making these medication decisions.  The advance practice nurses also may be the frontline provider.  For example, a nurse in a cardiology program or even a nurse who is in a community-based practice, will recognize when a person has a condition that may require further genomic evaluation, both for the prescription of the medications or perhaps to further clarify their risk for a clinical problem.  The education is important and many of us didn’t receive that education in our basic nurse practitioner programs.  That’s why the Roundtable wanted to be sure to highlight the importance of opportunities for advanced practice nurses to maintain or acquire new education regarding genomic advances so that they are prepared to use them as these advances come into their clinical practice.

Follow-up. And what about nursing research and systems change?

Nurse researchers are involved in understanding the biologic aspects of symptoms that people experience, as well as how people manage their symptoms. As more and more genomic discoveries become available to us, these nurse researchers are going to need to be well-versed in a wider range of methods, both at the bench and in the application of this knowledge in clinical practice.  I think it is important for nurse researchers to understand the various kinds of “omics” methods that will become available to researchers, as well as to anticipate what some of the behavioral questions are going to be.

Furthermore, there’s another aspect of research that has received probably less attention and that is the field of implementation science. And this is a type of research that helps us understand when a clinical innovation is introduced into practice, what are the factors that contribute to it being a success or perhaps make the success more limited? These questions revolve around the practice and process of implementation and looking at outcomes not only from the patient point of view but perhaps from the healthcare provider or the systems point of view. The more we can learn about that aspect, I think, the better we will be able to predict what are some ways we can move that innovation into practice timeline to accelerate it so that it doesn’t take so long for innovations to make it into clinical practice.

Final Follow-up. And how important is advocacy in this area?

These innovations and these discoveries, and the potential for them is very exciting. However, people from underserved populations have not always had the opportunity to participate. We know that some of our databases from discoveries do not represent our society as far as the ethnic representation, or people who don’t have access to major medical centers, or don’t have access to understanding of this fairly complicated field of genomic healthcare. Nurses are excellent advocates.  Often they understand and identify when people don’t understand what they are being told, or what they are being asked to consider. So this is an important role that the Expert Panel identified for nurses across all settings: to be alert to the need for people from all backgrounds to have the opportunity to participate in genomic research, in data sharing. But also to have the opportunity to have this information explained to them in a way that is most meaningful to them.  We often say nurses are the first in and the last out of a room.  This is often where nurses identify where advocacy skills need to be applied.