Learning Objectives
By the end of this section, you will be able to:
- Identify parameters for genetic screening and testing
- Discuss legal implications for genetic screening and testing
- Review ethical and social concerns for genetic screening and testing
Genetic testing began in the 1950s when scientists discovered that the cause of Down syndrome was an additional copy of chromosome 21 (Snedden, 1999). In the 1960s, newborn screening for phenylketonuria was developed (National Association for Rare Disorders, 2021). Since then, genetic testing has evolved to be routine in identifying and treating diseases, and in preventative medicine. Nurses today encounter genetic testing in the inpatient, outpatient, and community settings. This section will describe parameters used for genetic testing and screening, as well as legal, ethical, and social considerations the nurse may encounter.
Genetic Testing
The process of genetic testing identifies mutations in a person’s DNA, and it can provide guidance in the type of medical care a person receives. Reasons a person may have genetic testing include
- learning if a person has a genetic condition inherited by their parents;
- diagnosing a genetic condition based on signs and symptoms;
- discovering if a person has a genetic condition they may pass on to their children; and
- informing cancer screening or treatment.
Types of genetic testing include single-gene testing, panel testing, and large-scale genetic testing. Single-gene testing looks for variation in a specific gene and is often done when looking for a specific syndrome or condition based on symptoms, such as sickle cell disease. Panel testing evaluates a group of genes for variation, when the provider is evaluating nonspecific signs or symptoms, such as poor muscle tone. Large-scale genetic testing can be done to look at the entire DNA, all genes in the DNA, or genes related to medical conditions. This is done in people with complicated medical histories or for research purposes (Centers for Disease Control and Prevention, 2022).
Population Screening Tests
The process of genetic screening evaluates a person’s risk of developing a genetic condition. The process of population screening refers to large-scale screening programs offering the general population testing for genomic disorders, such as hereditary breast and ovarian syndrome, Lynch syndrome, and familial hypercholesterolemia, that may be prevented or effectively mitigated with early detection.
Screening may be focused on identifying the presence of genetic mutations that may cause disease in the individual or that may be transferred to offspring. An example of the first type of screening is seen in the United States with newborn screenings for genetic disorders within forty-eight hours of birth. Genetic carrier screening identifies the risk for having a child with inherited disorders, such as cystic fibrosis or Tay-Sachs disease, and promotes informed decision-making regarding reproductive options (Montgomery, 2021).
Principles guiding genetic screening programs include characteristics of the disease, the test, and the health care system resources. The condition should be relatively common and considered a serious disorder to ensure that benefits warrant the costs. There should be an acceptable readily available treatment. The test should be valid and reliable, easy to perform, inexpensive, and acceptable to the population. The health care system must have the resources needed to offer further diagnosis and subsequent treatment of the disorder. A means for effective and efficient communication of results is a necessary component as well (Montgomery, 2021).
Diagnostic Genetic Testing
The purpose of diagnostic genetic testing is to confirm or rule out a specific genetic disorder using a DNA-based test. Linkage analysis determines the presence of a chromosome associated with a specific disease gene, considered an indirect genetic diagnosis. The test requires typing of numerous family members, and the possibility of recombination is a source of diagnostic errors. Direct diagnosis, where the specific mutation causing the disease is detected, is the most commonly used approach for diagnosis. This test uses a sample of the individual’s DNA and does not require additional family information. Although testing identifies the presence of a specific causative gene, it often does not determine disease severity or predict the age of onset. Examples include testing for cystic fibrosis and Huntington disease.
Nurse’s Role in Testing and Screening for Adult-Onset Conditions
Nurses serve as educators, providing patients with comprehensive information about genetic testing, including its purpose, potential benefits, limitations, and implications for health management, as well as preparing and assisting patients during the testing process. They ensure that patients clearly understand the testing process, its potential outcomes, and any associated risks or ethical considerations. After testing, nurses are responsible for following up with patients to communicate test results. This may involve interpreting the results in collaboration with the health-care team, explaining the implications for the patient’s health, and addressing any questions or concerns that arise. (Montgomery, 2021).
Health Assessment
The first step for assessing genetic/genomic risk involves collection of data through the personal and family health history, physical examination, and review of additional information, such as laboratory or radiology reports. Critical personal information includes race/ethnicity, age, significant therapies, present and past medications, medical and surgical history, history of any genetic testing, and reproductive history. If the personal history involves a cancer diagnosis, information to be obtained includes the type of cancer, age of onset, pathology reports, exposure to carcinogens, and medical or surgical treatment regimes. In the presence of high risk for cancer, information about any chemoprevention therapy or risk-reducing surgery should be included. Information about behavioral factors such as tobacco use, drug or alcohol use, and sexual history, and environmental factors such as radiation or toxin exposure, should also be addressed. The physical exam should include observations regarding anomalies or dysmorphic characteristics that may be associated with a genetic disorder (Montgomery, 2021).
The family history records the health and disease concerns experienced within the family over three generations. In conjunction with the personal history, the family history further enhances risk assessment, augments diagnosis, helps establish rapport to promote prevention and disease management, and facilitates effective decision-making. A three-generation pedigree can serve as a visual representation, revealing relationships and patterns that may indicate inherited disorders (Montgomery, 2021).
Upon completion of collection, the data should be reviewed to identify “red flags,” factors that may be associated with risk for an inherited disease or a familial predisposition. This step facilitates identification of at-risk individuals, so that interventions to reduce risk can be implemented, as well as establishing the need for genetic testing or for preventative treatment regimes. Genetic red flags include known genetic disorders, sudden unexpected cardiac death, early onset of disease (under age 50), and ethnic predisposition for a genetic disorder (Montgomery, 2021).
Based on the red flags, the level of risk probability and empiric risk can be determined. The likelihood that an individual carries a genetic mutation predisposing the person for developing disease is their risk probability. The chance for the occurrence of a disease based on personal and family history and other data is the empiric risk. Thorough review of the data is important for determining whether the patient is at population, moderate, or high risk.
If the history reveals red flags related to risk for inherited disorders, a referral for genetic counseling is indicated. Provide the patient and family with information about testing, the types of tests, benefits or risks, and the reasons testing is needed. Many people may have a level of risk for noninherited disorders based on behavioral factors or environmental exposures. Such concerns warrant discussion of risk-reduction interventions such as preventative strategies, lifestyle modifications, and measures for early detection. As there is an element of risk for any individual regardless of history or physical exam findings, measure to reduce risks should be a routine component of practice, addressing topics such as healthy lifestyle behaviors, age-appropriate immunizations, smoking cessation or avoidance, and seat belt use, as well as promoting screening for early detection (e.g., colonoscopy, mammography) (Montgomery, 2021).
Ethical, Legal, and Social Concerns
The ethical, legal, and social implications (ELSI) associated with advances in genetic and genomic knowledge include informed decision-making, informed consent for genetic testing, consent related to genetic/genomic research, privacy and confidentiality, and discrimination prevention (Soleymani-Lehmann et al., 2022). The term ELSI has its origins in the Human Genome Project, and it has generated complex ethical and legal issues related to health care. Nurses are called upon to integrate genetic and genomic knowledge and principles into the scope of practice, including an understanding of ELSI concerns (Soleymani-Lehmann et al., 2022).
Link to Learning
The Human Genome Project was a monumental international scientific research endeavor that aimed to unravel the mysteries of human DNA. It sought to identify, map, and sequence all the genes of the human genome, providing a comprehensive understanding of our genetic makeup from both a physical and functional perspective.
Ethical and Legal Considerations
Informed decision-making centers on assuring that individuals clearly understand the nature, risks, and benefits of any procedure and have given consent freely without any coercion. Nurses will be increasingly involved in discussing genetics-related issues involving informed decision-making, especially in the areas of gathering family history and obtaining medical information from patients and their family members. The nurse discusses the need for gathering family history data to obtain the patient’s verbal consent for the process. Similarly, it may be necessary to obtain information directly from other family members, or from medical records, necessitating discussion with the family members and obtaining written consent.
Genetic testing procedures also require assuring that the patient clearly understands the purposes, benefits, and risks involved with testing, facilitating informed decision-making and consent (Soleymani-Lehmann et al., 2022). Genetic testing from preconception and throughout the life span presents unique issues related to informed consent. For example, an issue associated with newborn screening is that results also reveal information about family members. A newborn with a diagnosis of phenylketonuria (PKU) reveals that both parents are carriers. In turn, then, there is the risk for parents’ siblings being carriers as well. A psychological/emotional effect may be in the form of parental guilt. A known diagnosis may affect the ability to obtain health insurance, and it may lead to future employment discrimination. It is essential that in-depth counseling assuring informed consent is a central aspect of genetic testing.
Genome-Wide Association Studies
An expanded area of research, referred to as genome-wide association studies (GWAS), aims to identify common genetic factors that influence health and disease. To facilitate GWAS research, the NIH has developed policies regarding the sharing of GWAS-related data, including a central repository for such data. Informed consent, again, is a critical issue, ensuring that research participants have a full understanding regarding data sharing and its implications. Three levels of consent are under consideration. Traditional consent involves participants’ consent to participate in the research study and for public release of their data. Binary consent allows participants to agree to participate in the study but choose not to allow release of their data. Tiered consent allows participants to be in the study and offers several options related to data sharing, giving them control over whether or not data are shared, how that is done, and with whom it is shared. Nurses must be aware of any changes in processes related to informed consent to be able to provide information for those considering participating in GWAS research (Uffelmann et al., 2022).
Privacy and Confidentiality
Maintaining privacy and confidentiality regarding genetic health information has the potential for presenting complex concerns for nursing practice. For example, the American Nurses Association (ANA) Code of Ethics defines privacy in terms of the individual’s right to control their own personal information. It defines confidentiality as the nurse’s obligation to protect that right and prohibits disclosure of information provided in confidence to another person. The potential for a dilemma arises in that genetic information for one person may also imply risks for others. On one side, the nurse is obligated to protect the patient’s rights. On the other, the nurse may feel the duty to warn others of their potential health risks. The nurse must be aware that there is no legal authority allowing the breach of confidentiality with disclosure of genetic information about one person with another.
Discrimination
Discrimination based on genetic information, primarily involving insurance and employment practices, was recognized early in the Human Genome Project. The concerns centered on the potential that insurance providers would limit or deny coverage based on genetic information, or that employers might use the information as a basis for hiring and firing. The Genetic Information Nondiscrimination Act (GINA) prohibits discrimination based on genetic information in both areas. Title I addresses health insurance, specifying that health insurers may not use genetic information to determine eligibility for coverage and may not request that individuals undergo genetic testing or provide genetic information. Title II addresses employment practices, prohibiting the use of genetic information in making employment decisions, and it restricts employers from requesting genetic testing and the disclosure of any genetic information (National Human Genome Research Institute, 2020).
Link to Learning
Learn more about how you can prevent genetic discrimination through the Genetic Information Nondiscrimination Act of 2008.
Social and Spiritual Considerations
People of some religions are hesitant to receive genetic testing, especially during pregnancy. For example, some Christians, particularly those with conservative or traditionalist views, may hold beliefs that life begins at conception and, therefore, view selective abortion based on genetic abnormalities as morally unacceptable. Hesitancy around genetic testing in some cultures stems from a lack of understanding or education about the purpose and importance of genetic testing in certain situations.
Cultural Context
Availability of Genetic Services
A took aim at the ethical, social, and cultural issues associated with delivery of genetic services in low- and middle-income countries (LMICs) (Zhong et al., 2021). Nine themes emerged:
- Genetic counseling has a tendency of being directive.
- Genetic services have psychosocial consequences that require improved support.
- Medical genetics training is inadequate.
- Genetic services are difficult to access.
- Social determinants affect uptake and understanding of genetic services.
- Social stigma is often associated with genetic disease.
- Family values are at risk of disruption by genetic services.
- Religious principles pose barriers to acceptability and utilization of genetic services.
- Cultural beliefs and practices influence uptake of information and understanding of genetic disease.
The World Health Organization (WHO) provides some guidance on the implementation of community genetic services in LMICs to prevent congenital disorders and genetic diseases. This review is an important step toward informing the development of evidence-based, ethical, and culturally appropriate genetic services in LMICs (Zhong et al., 2021).
Nursing Responsibilities
The ANA identified nursing competencies guiding professional practice in the realm of ethical issues related to genetics and genomic health care. Professional responsibilities include the following:
- recognizing when one’s own attitudes and values may affect provision of care
- advocating for the rights of all patients to autonomous, informed decision-making and voluntary action
- identifying ethical issues, (ethnic, cultural, religious, legal, fiscal, and social) related to genomic information and technologies
- defining issues that compromise patients’ rights for autonomous, informed decision-making and voluntary action
- providing accurate, relevant, and the most current information, resources, services, and technologies that promote informed decision-making