Magazine article American Nurse Today

Patient Care in the Dawn of the Genomic Age: New Scientific Developments Come with New Nursing Considerations

Magazine article American Nurse Today

Patient Care in the Dawn of the Genomic Age: New Scientific Developments Come with New Nursing Considerations

Article excerpt

APPLICATION of genetics and genomic science to health care is emerging in full force and having a powerful effect on nursing practice. Genomic medicine--using an individual's genomic information to help guide diagnosis and treatment--is taking off as a healthcare discipline. (See What's in a name: Genetic vs. genomic and other basic terms.)

This new era is characterized by its emphasis on addressing individual genetic makeup as part of care, which has profound implications for nurses. You may need to take into account patients' specific genetic characteristics when assessing them, managing their care, and providing education. Be ready for change:

* New genetic tests are expanding healthcare choices and treatment options.

* Advances in pharmacogenomics--the study of how genes affect a person's response to drugs--are taking off. Expect one day to administer medications based on your patients' specific genetic makeup, if you aren't doing so already.

* New ethical and legal questions are emerging and will undoubtedly affect nursing practice.

This article offers a crash course to get ready for nursing in the genomic age. We focus on three key areas: genetic testing, pharmacogenomics, and ethical and legal implications of genomic-based nursing practice. (See Genetics: Back to basics.)

Genetic analysis

Genetic tests identify changes in chromosomes, genes, and proteins. These tests can confirm or rule out a suspected genetic condition or help determine an individual's likelihood of developing or passing on a genetic disorder.

Different methods are used to obtain genetic information about patients:

* Molecular genetic tests (or gene tests) study single genes or short lengths of DNA to identify variations or mutations that lead to disorders. (See Understanding the role of genetic mutations.)

* Chromosomal tests analyze whole chromosomes or long lengths of DNA to identify large genetic changes that could cause a genetic condition, such as an extra copy of a chromosome.

* Biochemical tests study the amount or activity level of proteins; abnormalities in either can indicate changes to the DNA that result in a genetic disorder.

Prenatal and newborn testing

Prenatal testing looks for alterations in chromosomes or DNA of a fetus. Recent scientific advances may allow for serum testing; however, at this time, the most common approach is capturing fetal cells through amniocentesis. These cells are tested for chromosomal abnormalities or metabolic disorders. One such abnormality is Trisomy 21, or Down syndrome, characterized by three copies of chromosome 21.

Newborn screening tests are performed when an infant is between 24 and 72 hours old. Depending on state requirements, these tests screen for 30 to 50 genetic alterations that can cause conditions such as phenylketonuria, cystic fibrosis, and sickle cell disease.

I Carrier and presymptomatic testing

Carrier testing may reveal a specific gene alteration that can affect a patient's or offspring's health. For example, tests for the BrCA1 or BrCA2 mutation may detect an increased risk of developing breast or ovarian cancer. Carrier testing can determine if a patient has the same genetic alteration as a family member.

A patient may undergo presymptomatic testing to determine if he or she has a specific gene alteration that may indicate a high likelihood of becoming symptomatic for a particular condition. As in carrier testing, patients who get tested usually know about a specific condition that runs in their family; for example, Huntington disease, an adult-onset, degenrative condition that begins around age 40 to 60.

Presymptomatic testing is reserved for conditions with a high likelihood of occurring. In other words, the genetic variation has a high likelihood of producing an associated trait--referred to as a high penetrance. …

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