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Genetic and Genomics in Transplantation: It's complicated...but are we prepared?

Bernice Coleman, PhD, ACNP-BC, FAAN
Cedar Sinai Medical Center
Los Angeles, CA, USA

Kathleen Calzone, PhD, RN, APNG, FAAN
National Cancer Institute (NCI)/NIH
Bethesda, MD, USA

It's been a long time since the human genome was explicated in 2003. No one questions the importance of genetic and genomic influences on the development of cardiovascular or thoracic diseases. In fact, among transplant patients, individual patient responses to treatments, most notably medications, vary from expected outcomes, to no effect or deleterious effects. While great strides in genetics and genomics have been seen in transplantation particularly as it relates to the use of Allomap [1]; new findings on the horizons related to the use of genome-wide association studies [2], next generations sequencing exploration and cell free DNA methodologies continue to provide promise to improve patient outcomes. Translations of this knowledge into practice will require system wide changes to support the translation of genetic and genomics into practice [3]. Clinically, this work still requires efficacy trials to insure patient safety. However, the steps to successful translation of this knowledge into clinical practice are complex and multifaceted [4]. Many discoveries are slow to fulfill their promise. A major impediment to widespread translation of genetic and genomic science is lack of basic literacy in genetic and genomic concepts. In practice there remains a difference between care providers who are knowledgeable in the application of genetic and genomic in transplantation and those who may not be as familiar [5].

In 2006, a Consensus Panel established the first competencies and curricular guideline for nursing in genetics and genomics [6]. Competencies were then expanded to include outcome indicators in 2009 [7]. The competencies apply to all registered nurses regardless of academic preparation, clinical role or practice specialty, including nurses practicing in transplantation. Then in 2011, another consensus panel was convened to establish the competencies specifically for nurses with graduate degrees [8]. All the competencies have been published by the American Nurses Association (ANA) and specify the minimum genetic and genomic knowledge, skills, and attitudes required of nurses who are not practicing in a genetic sub-specialty.

The difficulties encountered in translating competencies into practice have prompted the development of educational strategies necessary to prepare nurses to care for patients in this genomic age [9]. Interventions are most successful when targeted towards specific genetic/genomic educational needs of a specific practice group. To date, no studies have been conducted to assess transplant nurses knowledge of genetics and genomics. As discoveries in genetics and genomics of transplantation continue to emerge, such as pharmacogenomics, genetic variation and transplant outcomes, the clinical translation aimed at improving transplant outcomes is primary limited by the capacity of the transplant team to understand and implement those findings. Since an impressive amount of time is spent in patient and family teaching, all transplant nurses must assess their own genomic competency and consider strategies to understand the concepts of genetics and genomics as they will surely be confronted by patients and families with questions in this area.

The NHSAH is committed to assisting in this endeavor. Recognizing that this knowledge area is critical for the NHSAH council and that no literature could be found to inform our council's educational strategic planning, we plan to conduct a survey of our council members' basic knowledge of genetics and genomics. This IRB approved survey will be distributed in January 2016 via survey monkey. Results will be presented at the Pre-conference Co-sponsored by NHSAH and the Junior Faculty Councils entitled: "Genomics: What Do I Have to Know and How Will It Affect My Practice". We welcome your participation. ■

Disclosure Statement: The authors have no conflicts of interest to disclose.


  1. Deng M., et al, (2006). Noninvasive discrimination of rejection in cardiac allograft recipients using Gene Expression Profiling. American Journal of Transplantation. 6(1): 150-160.
  2. Kransdorf EP and Kobashigawa JK. (2012). Personalized Medicine. (9)7: 693-705.
  3. Issa A. (2015). 10 years of personalizing medicine: how the incorporation of genomic information is changing practice and policy Personalized Medicine. (2015) 12(1), 1-3.
  4. Collins F., (2010). Opportunity for research and NIH. Science. 327(5961):36-37.
  5. Musunuru K., Hickey K., Al-Khaitc S, Delles C., Fornage M., Fox C., et al., (2015). Basic Concepts and potential application of genetics and genomics for cardiovascular and stroke clinicians: A scientific statement from the American Heart Association. Circulation Cardiovascular Genetics.8:216-2-42.
  6. Consensus Panel on Genetic/Genomic Nursing Competencies. Essential Nursing Competencies and Curricula Guidelines for Genetics and Genomics. Silver Spring: American Nurses Association; 2006.
  7. Consensus Panel on Genetic/Genomic Nursing Competencies. Essentials of Genetic and Genomic Nursing: Competencies, Curricula Guidelines, and Outcome Indicators, 2nd Edition. 2nd ed. Silver Spring, MD: American Nurses Association; 2009.
  8. Karen E. Greco K., Tinley S., & Seibert D. (2011). Essential in Genetics and Genomic Competencies for Nurses with Graduate Degrees. American Nurses Association. Washington DC.
  9. Jenkins J, Calzone,K.A., Caskey, S., Culp, S., Weiner, M., Badzek, L. Methods of Genomic Competency Integration in Practice. Journal of Nursing Scholarship 2015;47:200-210.

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