The nursing profession plays a critical leadership role in the genetic health of the nation. The ongoing coalition between the American Nurses Association (ANA) and the International Society of Nurses in Genetics (ISONG) has produced documents, such as Statement on the Scope and Standards of Genetics Clinical Nursing Practice (ANA 1998) and Genetics/Genomics Nursing: Scope and Standards of Practice (ANA and ISONG 2006), that lay claim to a central role for nursing in genomic health. This role is recognized by commentators outside the profession, who have noted that nurses have the most logical role in the genetic counseling process because of their numbers and presence throughout the healthcare system (Fletcher 2001).

It is probably a misnomer to refer to a genetic “test.” Such language conjures an image akin to having a child checked for strep throat by swabbing a throat culture. Not only does the procedure sound straightforward, it suggests that the results will be clear and concise and will provide unambiguous guidelines to parents and clinicians about how to proceed. Of course, few biomedical tests are so simple. Chest x-rays, complete blood counts, even blood pressure readings, are procedures that represent only part of the assessment process of most acute and chronic health conditions. Genetic tests are no different, for the molecular testing one thinks of when referring to a chromosomal or specific gene test is usually done only as part of a larger health workup. For RNs working with families, it is more appropriate to use “genetic assessment” when referring to the process of examining the risk for or the presence of existent disease mutations.

The concept of genetic assessment becomes easier to understand and much more comprehensive when one realizes that many genetic illnesses are diagnosed without a classic genetic “test.” The notion that a genetic test is an examination of chromosomes or specific genes contained in blood or tissue specimens is a very limited one. Consider that many genetic illnesses are diagnosed indirectly, such as when sickle cell disease is determined to be present by both the characteristic symptoms and the serologic testing that quantifies the types of typical hemoglobins present in the disease state. One only has to think back to the royal families of Europe in the late nineteenth and early twentieth centuries to understand that none of the forms of hemophilia present back then were found via examination of genes. Despite the lack of genetic technologies then, there was no doubt of the genetic nature of the condition.

So if we expand the concept of genetic testing to genetic assessment, we have a better base to understand how families experience the arrival of genetic illness. Consider how families encounter an illness such as neurofibromatosis2 (NF2), a disease of the acoustic nervous system that occurs when a genetic mutation causes tumors, known as schwannomas, to grow and impinge on the acoustic nerve and cause symptoms such as tinnitus, deafness, and balance problems. New mutations will
often occur in young adulthood, after the patient has married and had children, who are in turn at risk for this autosomal dominant illness. The diagnosis is made by clinical examination and imaging of the tumors (Lim, Rubenstein, Evans, Jacks, Seizinger, Baser, et al. 2000). Parents must decide whether to supplement surveillance of their children with an examination of the 22q12.2 chromosome for NF2. In this case, the genetic assessment, augmented by the chromosomal analysis, will result in a parent being given information that will not be used immediately for medical benefit but instead may enable them to consider future family directions as they live with a chronic illness.

Today we have expanded the scope of genetic assessment to include many procedures that provide data about family health, including probably the most important one, the family history. Now we know can better appreciate the vast array of data about genomic health that RNs need to best counsel their patients. Even a preliminary list of occasions when parents can expect to confront opportunities to obtain genomic information should impress us with the preparation necessary to assist with the possible decision:

In 2001, ANA published Code of Ethics for Nurses with Interpretive Statements, which represented a total rewriting of past iterations of its code. One of the most important modifications made to the code was to widely define the recipient of nursing services as anyone who is the object of nursing care. This means that the concept of patient extends beyond the individual to encompass groups, such as families. This is a model of patient care that that had been adopted by the genetics nursing community and articulated within their position statement “Informed Decision-Making and Consent: The Role of Nursing” (ISONG 2000), which recognizes the role of the family in genetic health decisions. It is reiterated in the group’s newly updated position statement “Privacy and Confidentiality of Genetic Information: The Role of the Nurse” (ISONG 2005), in which the autonomy of the individual is recognized while the inseparable role of that person’s family members is also highlighted. The result is that nurses in any setting who are providing genomic care can never look at the individual in isolation, but must use the concept of the person-within-a-group.

This does not mean that information obtained about a single patient may be freely shared without permission. Indeed, the requirement is just the opposite. Because the nature of genetic information is an immutable mapping of individuality that provides data about both past and future health and may have multiple interpretations, the such information must be zealously guarded. The key parts of including the family while providing nursing care to the individual are explaining the implications for the synergistic nature of genetic information, and considering that family members have a strong interest in, though not necessarily rights to, any information found in a genetic assessment that may affect their health.

Bioethical thinking in genetics has followed the same theoretical framework that healthcare ethics in general has adhered to. The hierarchical principled system of moral behavior that uses the ethical theories of deontology and utilitarianism is quite familiar to healthcare professionals (Beauchamp and Childress 2001). Because the seeming contrast between the two theories—deontological thought demands that specific rules that directly lead to specific goods be followed no matter what collateral effects occur, while utilitarian thought dictates that moral decisions be based on the greatest good that derives from an act—would suggest that choices need to be made between one theory or another, principled theory appeals to both to support its dictums. For example, when the principle of autonomy, which supports individual rights over the collective and is supported by deontology, is challenged by the principle of justice, which almost always uses utilitarianism to support actions that provide health goods that are community-based rather than individual in nature, principled theory allows both considerations to be weighed and the decision made in favor of the principle which seems overriding in a given situation.

One critique of principlism derives from the dilemmas that adhering to its guidelines frequently lead to. When does one principle trump another? In genetic ethics, a frequent ethical issue involves sharing genetic information between family members. Should the autonomy of the proband found to have a serious heritable illness be honored when he refuses to share such information with at-risk family members? When would the potential benefits to having such information support the possible risk of harm that releasing such information might entail? A second critique of principlism involves the evolution of the individual in Western society. Because the concept of autonomy has come to exert much influence in our current ethical deliberations, it is difficult to weigh the other principles properly when juxtaposed to the broad model of individuality prevalent in today’s society.

Despite these weaknesses, principled ethical theory is probably going to maintain its preeminent position in our health system. Because it is expressed in language that is easily understandable, it has been taught now for two generations of healthcare professional education, composes the basic language of many bioethical guidelines, and even has been written into health policy law (Evans 2000). Any examination of its role in genetic ethics should seek not to eliminate it but to determine where it fails to support our moral actions and provide some other framework to enhance it and strengthen our moral behaviors.

The formalized parent-child ethics that RNs share with other family health professions follows a framework based on the principled theory already presented. In brief, the following interpretation (Miller and Nelson 2006) of the principles is accepted: