Genetics and Genomics in Nursing

Depending on your age, you may remember when the Human Genome Project swept the news, touted as the next great advancement in science and healthcare. The project, which began October 1, 1990, and finished almost fourteen years later, was a coordinated international effort to understand and map the entirety of the human genome. Knowing how our genome dictates our health helps predict how individual variations of each person’s genetic code will influence their risk factors for disease and how they may respond to various treatments.

Today, practicing nurses need to understand the actual and potential impact of genetic and genomic influences on health. Nurses need to know terminology differences, the impact of genetics and genomics on health promotion and disease management across the lifespan, and implications for nursing practice.

What Is the Difference Between Genetics and Genomics?

Even though these two terms sound alike, they are very different and not interchangeable. Genetics studies the impact of a specific gene on an individual, whereas genomics looks at all the genes together and how they might interact with each other and the person’s environment.

  • Genetics: Genes are our body’s DNA building blocks that pass from one generation to the next. Sub-disciplines of genetics include epigenetics, classical genetics and molecular genetics.
  • Genomics: Genomics looks at the complete gene makeup of an individual.

How Can Genetics and Genomics Be Used to Promote Health, Prevent Disease and Manage Illness?

Disease Prevention: A comprehensive family history can identify individuals at high risk for developing certain conditions and may impact screening and prevention strategies. For example, women with an inherited BRCA mutation are at high risk for breast and ovarian cancer and may choose prophylactic surgery to decrease risk.

Drug Selection: People with different genomes taking the same drug may have varied reactions: one person may be at a greater risk of side effects, need a higher dose for efficacy or require a longer duration. According to American Nurse, pharmacogenomics examines how a person reacts to and metabolizes various medications based on their genetic makeup. This information, often taken from a cheek swab, helps providers select the best drug and dose, particularly in chronic illnesses such as cardiovascular or pulmonary disease, chronic pain, autoimmune disorders, certain cancers, arthritis and depression.

Treatment Plans: A “one-size-fits-all” approach is being replaced with a more personalized approach as new treatment options influenced by genomic information are popping up daily. Molecular tumor testing looks at changes in tumor DNA at the cellular level to determine diagnosis, prognosis and treatment. Cancers, such as lung or acute myeloid leukemia (AML), that were thought to be single, simple diseases are really very diverse, complex cancers with various mutations requiring a unique individualized plan targeting those mutations.

How Does This Apply to Nurses?

In 2003, shortly after the completion of the Human Genome Project, the American Nurses Association (ANA) published the Essentials of Genetic and Genomic Nursing: Competencies, Curricular Guidelines, and Outcome Indicators. These guidelines emphasize the importance of nurse familiarity with advances in genetic technology, self-awareness of attitudes and biases, and cultural competence. In addition, nurses need to know how genetic information is used and its impact as well as legal, ethical, religious, cultural and social implications. Think about these sample ethical issues:

  • Will insurance companies/employers discriminate if information is released?
  • Will parents be able to create “designer babies”?
  • Will information access cause undue stress or anxiety?

As the most trusted health professionals, nurses often have intimate knowledge about patients’ personal and family history. Nurses can provide counseling and answer questions about how genetic information might direct health promotion, aid in diagnosis and empower patients to make treatment decisions.

Nurses in all areas and across all specialties use genetic information in their clinical practice — prenatal testing, newborn screening, oncology and geriatrics — to help formulate care decisions. Some nurses may choose a genetic counselor role or find work in screening and detection.

How Can a BSN Help?

As technology and policies facilitate the use of genetic and genomic information in healthcare, nurses must be competent and confident in integrating this information into their practice. Some Bachelor of Science in Nursing (BSN) programs, like the University of Louisiana at Lafayette’s online RN to BSN, offer a course focused on genetics and genomics to help nurses understand the terminology, trends and role in healthcare.

Learn more about the UL Lafayette online RN to BSN program.


National Human Genome Research Institute: The Human Genome Project

NCBI: Genomics Education: Knowledge of Nurses Across the Profession and Integration into Practice

American Nurse: Genetics in the Clinical Setting

ScienceDirect: Classical Genetics

ScienceDirect: Molecular Genetics

U.S. News & World Report: Will Pharmacogenetics Help Your Health?

Becker’s Hospital Review: Nursing Once Again Ranks As Most Trusted Profession in America

American Nurses Association: Essentials of Genetic and Genomic Nursing: Competencies, Curricular Guidelines, and Outcome Indicators

Tipado, CJ. (January 2020) Phone interview.


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