Genetics, Genomics, and Cancer: The Future Is Now

As a new decade unfolds, we are very fortunate to have an increasing number of new interventions available because of the recent tremendous advances in genetics and genomics. While a variety of disorders associated with single gene mutations have been understood for decades, information from sequencing the complete human genome, together with new technologies, has created opportunities in medicine with far-reaching implications.

We are constantly building on our understanding of normal and aberrant genetic function and how differences in gene products, or “molecular signatures,” can be associated with specific clinical characteristics and diseases. Genomic research is uncovering ways that interactions among genes, one’s environment and culture, and other factors can affect disease development and prognosis. Evolving research in this area will continue to inform our assessment of individual risk, selection of therapy, and predictions of outcome. Personalized healthcare is becoming a reality.

In this issue of ONCOLOGY Nurse Edition, authors Dale Lea and Kathleen Calzone emphasize the importance of knowledge about current genetics and genomics concepts, and integration of relevant tools and research findings into daily oncology nursing practice. Both authors served on an independent consensus panel of nurse leaders who developed the Essential Competencies and Curricula Guidelines for Genetics and Genomics. Their excellent article is based on the recommendations put forth in this resource, which was published in 2006 and updated in 2009.

Key nursing domains outlined in the Essential Competencies are assessment, application and integration of genetic and genomic knowledge to elicit and analyze family health history in conjunction with other risk factors; identification of patients who may benefit from specific genetic/genomic information or services; referral of at-risk patients and families for genetic/ genomic services as needed; and provision of education, care, and support, utilizing genetic- and genomic-based information and interventions to improve outcomes.
Lea and Calzone highlight the many applications of genetics and genomics to the care of individuals with, or at risk for, specific solid and hematologic malignancies -from diagnosis and prognosis (eg, BRCA1 and BRCA2 mutations), to progression (eg, micro-RNA expression in hepatocellular carcinoma), to choosing the most appropriate therapy (eg, breast tumor ERBB2 gene expression to determine eligibility for trastuzumab [Herceptin], or assessment of KRAS status in colorectal cancer prior to initiating EGFR inhibitor therapy), or monitoring the response to a given agent.

Oncology nurses are well positioned to provide a foundation for all that our expanding knowledge in genetics, genomics, and pharmacogenomics has to offer: risk reduction and prevention; earlier, more accurate diagnosis; better and more effective intervention and treatment; avoidance of expensive, toxic, and unnecessary therapy; an improved survival benefit; and a more satisfying quality of life.