The Genomic Era and the Promise of Personalized Care

By Dr. Mindy Tinkle, Associate Professor at University of New Mexico

The completion of the Human Genome Project in 2003 ushered in an era of accelerated and ever-evolving discoveries about how our genomes function, interact with our environment, and influence our health. New genomic technology has also continued to emerge at a rapid pace leading to new applications, particularly in cancer care, that are already in the clinic or directly available to consumers and impacting care of patients and families. This burgeoning science and technology holds the promise that health care can be personalized or more precise based on our own unique genome sequence interacting with our physical environment, lifestyle and other factors, resulting in tailored and effective treatments and individualized approaches to prevention. 1-3

Nurses Are on the Frontline

All health care professionals are involved in the application of this progress in genomics to all aspects of patient care, from assessment and screening to diagnosis and treatment. Many clinicians, including nurses, are confronted with the gap in their ability to integrate new discoveries and knowledge about genomics into their clinical practice. And yet nurses are uniquely positioned to bridge this gap because of their large numbers (about 3 million in the U.S.); their care of patients, families, and communities across many settings; their knowledge about the biologic and psychosocial processes of illness, their skills in communication; and they have the public’s trust. 2, 4

Nursing education is responding to the need to better prepare the nursing workforce to be on the front line as advances in genomics are translated for use in patient care to optimize health. Professional nursing organizations, such as the American Nurses Association, the American Association of Colleges of Nursing, and the International Society of Nurses in Genetics are also working to promote integration of genomic nursing competencies into nursing education. Across nursing practice settings, such as school health, primary care, community health, prenatal and pediatric care, and cancer centers, nurses must be competent to:

  • Obtain a detailed family history and construct a pedigree;
  • Assess and analyze hereditary and nonhereditary disease risk factors;
  • Identify potential genetic conditions or genetic predisposition to disease;
  • Provide genetic information and psychosocial support to individuals and families;
  • Provide nursing care for patients and families at risk for or affected by diseases with a genetic component;
  • Refer at-risk individuals for specialized genetic and genomic services.5

Build Your Genomic Knowledge and Skills for Contemporary Practice

At the University of New Mexico (UNM), one way you can gain competencies in genomics is by enrolling in the online RN to BSN program. UNM is one of the growing number of nursing schools in the country that offer a course or a curricular thread in clinical genetics. The “Genetic Literacy Across the Lifespan” course in the RN to BSN program focuses on the fundamentals of clinical and molecular genetics. Students develop a knowledge base and set of skills based genetic and genomic concepts to build competencies needed for contemporary nursing practice, such as taking a comprehensive family history, constructing a pedigree, assessing risk, and communicating genetic information. Students learn how a person’s genome may predict how they respond to certain drugs and therapies and explore emerging genomic technologies for diagnostics and treatment of genetic diseases. The course also addresses ethical, legal, social and policy issues related to how scientific advances in genomics affect individuals, families and the broader society.

Genetically Competent Nurses Can Make A Difference

A pediatric nurse is providing postoperative care for a young child after tonsillectomy. Acetaminophen is ordered by the physician to manage postoperative pain. The child’s mother is asking why something stronger like codeine is not being given. The genetically competent nurse knows that the FDA has issued a warning that codeine not be used in children after tonsillectomy and/or adenoidectomy.6 Not only does she know about this contraindication, she is aware of the genetic explanation for why codeine in children can be dangerous and even cause death. She knows that some children have a genetic variant (a genetic change) in the CYP2D6 gene that alters enzyme activity during metabolism of codeine into morphine. Children with this genetic variant are “ultra-rapid metabolizers” of codeine so that taking codeine may lead to life-threatening or fatal levels of morphine in the body. While not all children have this genetic variant, without genetic testing, it is not possible to determine which children are ultra-rapid metabolizers. Thus the codeine contraindication applies to all children undergoing these procedures. Using her excellent communication skills, this genetically competent nurse is able to relate this genetic information to the mother and explain why an alternative analgesic for postoperative pain is indicated.

A nurse, as a member of an interdisciplinary team of providers, is working in a large primary care clinic. One of her role responsibilities is to obtain a family history as part of a patient’s yearly physical examination. Today, she is seeing a new patient, age 30, and takes a thorough 3-generation family history. She finds that the patient’s father had been diagnosed with colon cancer at age 42 and that the patient’s paternal aunt had endometrial cancer at age 34. Because the nurse is a genetically competent clinician, she recognizes a genetic red flag in this family history as she sees the patient’s relatives have cancers that could be part of a cancer syndrome such as hereditary, non-polyposis, colorectal cancer (HNPCC) or Lynch Syndrome. She knows from her genetics education that HNPCC causes about 3-5% of all cases of colorectal cancer and that affected individuals have an increased risk of many types of cancer, including early-onset colon and endometrial cancer. She also knows that if an individual carries a gene mutation for HNPCC, earlier and more frequent colon cancer screening has been shown to save lives. The nurse alerts the other members of the team about this family history and the patient is referred for genetic counseling and possible genetic testing.7,8

Learn more about the UNM online RN to BSN program.


 

References:

  1. Green, E. D., Guyer, and M.S. Charting a course for genomic medicine from base pairs to bedside. Nature 2011; 470(7333): 204-13. http://dx.doi.org/10.1038/nature09764.
  2. Calzone, K.A., Cashion, A, Feetham, S., et al. Nurses transforming health care using genetics and genomics. Nursing Outlook 2010; 58(1); 26-35. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2835985/.
  3. Lea, D. H., Skirton, H., Read, C.Y. et al. Implications for educating the next generation of nurses on genetics and genomics in the 21st century. Journal of Nursing Scholarship 2011; 43(1): 3-12. https://www.ncbi.nlm.nih.gov/pubmed/21342419.
  4. Daack-Hirsch, S., Jackson, B., Belchez, C. et al. Integrating genetics and genomics into nursing curricula. Nursing Clinics of North America 2013; 48; 661-669. http://dx.doi.org/10.1016/j.cnur.2013.08.005.
  5. “What is a Genetics Nurse?” International Society of Nurses in Genetics. http://www.isong.org/ISONG_genetic_nurse.php . Accessed 21 October 2016.
  6. “FDA Drug Safety Communication: Safety review update of codeine use in children; new Boxed Warning and Contraindication on use after tonsillectomy and/or adenoidectomy”. Federal Drug Administration, DSC Update on Codeine 02-2013. https://www.fda.gov/Drugs/DrugSafety/ucm339112.htm. Accessed 21 October 2016.
  7. “Do you know Tony?” National Human Genome Research Institute, National Institutes of Health. https://www.genome.gov/pages/health/healthcareprovidersinfo/psa-doyouknowtony-colorectalca.pdf Accessed 21 October 2016.
  8. Badzek, L., Turner, M., Jenkins, J. Genomics and nursing practice: advancing the nursing profession. Medscape: Online Journal of Issues in Nursing: 2008; 13(1). http://www.medscape.com/viewarticle/571719 Accessed 22 October 2016.

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