Positive Genetic Test Result


The case involves a newly admitted patient who turned out to have a positive genetic test result. After testing, the patient was found with cystic fibrosis, which is a genetically inherited condition. It is not always easy to get the results of a genetic test since the process is challenging to explain and interpret. A positive genetic test result describes an inherited mutation found in a gene. It is critical for the patient and their family to inquire about the possible meaning of the genetic test prior to and after the test has been conducted. This paper will cover details concerning expected genetic and genomic assessment, ethical considerations, theoretical foundations, legal policies, interprofessional care, and nursing strategies.

Genetic Condition: Cystic Fibrosis

Cystic fibrosis is a severe lung and digestive system condition that is generally inherited through genes. The disease makes the body produce sticky and thick mucus that clogs the lungs and obstructs the pancreases (Brown et al., 2017). Cystic fibrosis (CF) affects over 30,000 individuals in the United States and more than 80,000 people globally (Brown et al., 2017). CF occurs from the mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The faulty gene comprises codes that produce a protein that controls the flow of water and salt outside the organs such as the pancreas and lungs.

The CFTR protein that is generated by the gene is the one that regulates the movement of chloride and sodium ions along the epithelial cell membrane. Newborn babies are screened for CF as part of the procedure, either through a sweat chloride test or genetic test that entails cells or blood obtained from a cheek scraping. The test is conducted for mutation inside the CFTR gene (Brown et al., 2017). The standard presentation of cystic fibrosis is gastrointestinal (GI) or respiratory insufficiency disturbances. The symptoms of CFTR dysfunction inside the GI tract usually present much earlier than respiratory insufficiencies.

Ethical Considerations and Ethical Dilemma While Conducting Cystic Fibrosis Genetic Test

Genetic testing is a comparatively new and rapidly upcoming field. Several moral theories have dominated medical and public health practice in the United States, as suggestions are made concerning ethics education (Brown et al., 2017). There are emerging ethical issues and dilemmas postured by the growing presence of predictive genetic tests. Ostensibly, there are three types of genetic testing, including: predictive, diagnostic, and carrier testing. Due to an increase in genetic testing, there is fear of discrimination by insurance firms, society, and employees due to genetic testing.

Genetic discrimination has an ethical and moral implication, and a public health practitioner is mandated with identifying a probable exposure and recommend testing. The diagnosing physician has the ethical and moral obligation of informing the patient and their family of someone with a positive predictive genetic. Genetic information is familial; therefore, test results of one individual have direct health repercussions for other family members who are genetically related. The concerns call for informed consent, detailed counseling, and confidentiality (Brown et al., 2017). Moreover, queries arise whether the identification of CF in the neonatal period can enhance the nutritional status or long-term pulmonary condition of an affected child.

Ethical Theoretical Foundations When Conducting Genetic Test

Genetic technology delivers the techniques of diagnosing disorders that develop beyond infancy, including some that manifest only during adulthood. Certain conditions, if known earlier, the victim can decrease morbidity or threats of mortality (Brown et al., 2017). The human genome project fosters the advancement and swift introduction of genetic testing into clinical settings. Primary care physicians will require enhancing their knowledge of genetics and the advantages and risks of genetic testing. Ideally, genetic tests, just like other therapeutic and diagnostic endeavors for children, must involve informed parental contest, while an older child can assent (Brown et al., 2017). The ethical theoretical foundations when conducting the genetic test is the justification that the screening will provide the following information:

  • Prenatal diagnosis provides information to base decisions on the continuation of pregnancy.
  • Neonatal screening leads to early diagnosis and interventions that improve the prognosis or well-being of the patient.
  • Carrier screening offers information of value to patients when making reproduction and marriage decisions.

Relevant Legal and Professional Policies in Genetic Testing

Genetic technologies are quickly evolving, transforming the practice of clinical medicine. From cell-free DNA screening expertise in pregnancy to developed carrier screening to heredity cystic fibrosis, clinicians are faced with legal responsibilities. The genetics committee was formed by the government to highlight specific legal issues medical personnel may encounter when conducting genetic testing (Brown et al., 2017). Legal and ethical needs protect the patient’s confidential information, as genetic diagnosis must be kept private unless the patient consents to the revelation to relevant members of the family.

Clinicians are required not to withhold information from the patient about their health and genetic test results, and they are obliged to disclose the health information for better decision-making. Ideally, a health professional is encouraged to pursue guidelines from an attorney or ethics committee or both before deciding whether to disclose genetic information or reserve it from members of the family who might be at risk. The legal conception of autonomy serves as the base for various decisions that protect an individual’s bodily integrity (Brown et al., 2017). Legally a competent adult has the right to choose whether to undergo or refuse medical interventions.

Interprofessional Care For a Person With Cystic fibrosis

CF is a complicated condition requiring a team of professionals to provide every comprehensive and specialized care that the patient needs. A multidisciplinary methodology makes an outright difference in the patients’ care, and the team may include a nurse coordinator, pulmonologist, pharmacist, respiratory therapist, social worker, and dietitian. In some instances, the patient may focus on their CF condition with a single type of health care provider than another (Brown et al., 2017). The following professionals play a different role in cystic fibrosis care:

  • Gastroenterologists: they take care of complications of gastrointestinal and liver diseases.
  • Endocrinologist: they take care of CF-related diabetes and other hormonal ailments
  • Otolaryngologists take care of the ear, nose, and throat (ENT) mainly if the CF patient develops sinusitis or nasal polyp
  • CF Nurse: CF care centers usually have a nurse who coordinates patient care.
  • Respiratory therapist (RT): They teach the patient everyday lung secretion mobilization techniques or chest physiotherapy.
  • Physical therapist (PT): in some instances, PT performs chest therapy.
  • Nutritionist: since many patients with CF have exocrine pancreatic insufficiency (EPI), making it challenging to gain and maintain weight, a nutritionist may assist in administering an appropriate dose of pancreatic enzyme supplement.
  • Mental health professional/Psychologist: the professional help patients adjust to stress accompanied by having a chronic ailment
  • Social worker: they help the patient in navigating complex systems in obtaining what they require.
  • Pharmacists: they help patients track suitable medications, check correct dosage, and observe the possibility of drug interactions.

Nursing Care Strategies

The overall manifestation of cystic fibrosis is a chronic and progressive lung disease occurring from the secretion of dehydrated mucus within airway obstruction. The condition primarily affects respiratory, gastrointestinal tracts and reproductive system. There is also malnutrition from pancreatic insufficiency, but symptoms can vary (Brown et al., 2017). The nursing care strategies for patients with CF include:

  • Maintaining sufficient oxygenation
  • Emphasizing intake of adequate dietary meals and fluids
  • Extracting pulmonary secretions
  • Avoiding complications
  • Ensuring proper nutrition


Brown, S., White, R., & Tobin, P. (2017). Keep them breathing. Journal of the American Academy of Physician Assistants, 30(5), 23-27. Web.

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