In a paper published in the [October 23, 2008] issue of the journal Nature, the Tumor Sequencing Project (TSP) consortium identified 26 genes that are frequently mutated in lung adenocarcinoma—an achievement that more than doubles the number of genes known to be associated with this deadly disease. But this pioneering effort involved far more than just tallying up genes. Using a systematic, multidisciplinary approach, the TSP team also detailed key pathways involved in the disease and described patterns of genetic mutations among different subgroups of lung cancer patients, including smokers and never-smokers.1

This recent announcement of an advance in our understanding of lung cancer is only one example of what is becoming a regular series of announcements of advances in our understanding of genetic contributions to common disease. Since 2005, more than 190 genome-wide association studies (GWAS) have identified robust associations with genetic variants for nearly 70 common, complex diseases and traits, including agerelated macular degeneration, QT interval prolongation, inflammatory bowel disease, type 2 diabetes, Crohn's disease, and obesity. We live in exciting times. GWAS and other technologies will promote better diagnosis, improved determination of risk, and more individualized treatment.

This article is the first in a new department in JAAPA that will demonstrate how genetics is becoming the fundamental science for all health care providers and how it has—or soon will— influence your clinical practice as a PA. One of our objectives is to show the clinical relevance of genetics to different disciplines within PA practices. Another is to present current practical applications of genetics, while reinforcing underlying genetic concepts and principles that can be applied more broadly. We hope to provide articles that deliver a snapshot of how genetics and genomics are changing and will continue to change our understanding of the natural science of disease and health.

In addition, we hope the column can serve as a forum for the following:

• Perspectives from experts in genetics/ genomics that allow us to update our clinical toolbox for best practice

• Reviews of current and newly introduced genetics resources for clinicians and practice tools to support critical analysis of genetic literature

• Discussions of clinical genetics concepts: technological advances, genetic testing available to clinicians, important aspects of counseling patients about genetic information, ELSI (ethical, legal, and social implications) issues, and more

• Ethical, historical, and philosophical perspectives on common topics within genetics

• Reports from PA genetic experts who interface with policy groups, national organizations, and patients to help inform PAs at large of issues that will affect their clinical practice.

This first article describes some of the activities PAs are working on in the genetics community.

Genomics versus genetics

According to the World Health Organization, “the main difference between genomics and genetics is that genetics scrutinizes the functioning and composition of the single gene, whereas genomics addresses all genes and their interrelationships in order to identify their combined influence on the growth and development of the organism.”1 In clinical practice, genomics is the recognition of the value that genetic information brings to promoting health as well as to diagnosing, treating, predicting, and preventing all diseases, not only genetic diseases.

1. WHO definitions of genetics and genomics. World Health Organization Web site. http://www.who.int/genomics/ geneticsVSgenomics/en/. Accessed December 11, 2008.

Michael Rackover, one of the department editors, is serving his second term on the Board of Directors of the National Coalition for Health Professional Education in Genetics (NCHPEG) and also is a liaison from AAPA to the NCHPEG. He completed a 4-month sabbatical at the National Human Genome Research Institute (NHGRI) at the National Institutes of Health in 2006. Rackover organized a 2-day meeting in March 2007 attended by the executives of the four PA organizations; the acting surgeon general, Rear Admiral Kenneth Moritsugu, MD; and Dr. Francis Collins, along with his staff at the NHGRI. The purpose of the meeting was to develop an outline for how PAs can use current and anticipated genetics knowledge in the clinical setting. Rackover won the 2008 Physician Assistant Education Association (PAEA) Outstanding Service Award in part for his work in helping PAs to learn about genomics.

Constance Goldgar, the co-department editor, serves as the PAEA represen tative to NCHPEG. She (as lead author) and an energetic group of PAs and genetics experts developed and launched the CME Web site Genetics in the Physician Assistant's Practice (http://pa.nchpeg.org). This past year, with Michael Rackover and others, she has worked to establish guidelines for PA clinical competencies in genetics/ genomics2 as well as recommendations for a medical genetics curriculum specifically for PAs.3 Currently, Goldgar is working with the interprofessional NCHPEG GeneFacts group to develop point-of-care genetics tools for clinicians.

Karen Clarke, a PA with a master's degree and board certification in genetic counseling, has contributed to graduate and professional PA education in genetics over the past 2 years. Clarke recently volunteered to represent AAPA for the working group Evaluation of Genomic Applications in Practice and Prevention (EGAPP). The EGAPP pilot initiative was launched in 2004 by the CDC's National Office of Public Health Genomics to establish a systematic, evidence-based process to evaluate genetic tests and other applications of genomic technology as they transition from research to clinical and public health practice. This independent, nonfederal expert panel, the EGAPP Working Group, has been formed to provide recommendations based on the analytic validity, clinical validity, and clinical utility of genetic tests used in specific clinical scenarios. For more information about EGAPP, please visit www.egappreviews.org/about.htm.

We know that other PAs are working in the genetics/genomics arena, and we extend an invitation to you to help us develop a robust cadre of expert PAs who can share perspectives, knowledge, and questions as we all grapple with genetic issues and the future of medicine. Write to jaapa@haymarketmedia.com with your thoughts and ideas.

Alan E. Guttmacher, MD, acting director of the NHGRI is delighted that JAAPA will be publishing this series of articles about genomics and its increasingly important medical applications. Genomics will soon change the way we practice medicine every day. For this transformation in clinical care to happen in a timely and effective manner, providers—and patients—will have to increase their genetics literacy. This series is an important step towards that goal. Dr. Guttmacher applauds the PA profession for being among the first to take on the challenge of applying the incredibly powerful new tool of genomics to patient care.

Please look forward to reading our forum bimonthly. JAAPA

REFERENCES

1. Large-scale genetic study sheds new light on lung cancer, opens door to individualized treatment strategies. NIH News. http://www.genome.gov/27528559. October 23, 2008. Accessed December 11, 2008.

2. Rackover M, Goldgar C, Wolpert C, et al. Establishing essential physician assistant clinical competencies guidelines for genetics and genomics. Journal of Physician Assistant Education. 2007;18(2):48-49.

3. Goldgar C, Rackover M. Recommendations for a physician assistant medical genetics curriculum. Journal of Physician Assistant Education. 2008;19(2):30-36.

Michael Rackover is program director and associate professor, Physician Assistant Program, Philadelphia University, Philadelphia, Pennsylvania. Constance Goldgar is associate director and assistant professor at the University of Utah Physician Assistant Program, Salt Lake City. The authors have no relationships to disclose relating to the content of this article.