Expected genetic and genomic assessment findings and diagnostic results

Expected genetic and genomic assessment findings and diagnostic results

There are practical benefits and risks of diagnostic and predictive tests employed in clinical environments, and genetic testing is no exemption. Most genetic tests are utilized in cases that, albeit not distinctive to genetic testing, present distinct challenges in evaluating benefit and harm equilibrium. For instance, the condition of concern may be rare or uncommon; interventions may be inhibited; different therapeutic outcomes may be recommended, depending on the participant. Tests may not be comprehensively examined until after their clinical introduction; there may be inadequate and contradictory evidence and direction on the use of the test.

Expected genetic and genomic assessment findings and diagnostic results

A person can have a regular and abnormal mix of haemoglobin without sickle cell disease in the red blood cells. The above disorder called the “sickle cell trait.” Individuals with sickle cell trait in their red blood cells have quite enough regular haemoglobin to prevent the cells from sickling. In the United States, one in 12 African Americans has sickle cell trait. It is essential to keep in mind that individuals with sickle cell traits have no sickle cell anaemia. Except in unusual circumstances, they generally do not develop sickle cell disease. Persons with cellular sickness, however, may transfer the trait genetically on to their offspring. When two individuals with sickle cell trait get children together, the chance of their child having sickle cell anaemia is 1 in 4.

Assessment findings – Sickle cell trait is exacerbated by abnormal haemoglobin named sickle haemoglobin, or a point allele precipitates HB S. Sickle haemoglobin in the beta-globin string. This point mutation substitutes A with T In nucleotide sequence six of the beta haemoglobin string. This causes the glutamic acid to switch to valine amino acid. Once subjected to a low oxygen level, the valine-type haemoglobin allows red cells to sicken. Patient with sickle cell trait acquires one parent’s HbS and the other parent’s HbA, which makes them heterozygous.

Diagnostic results- Patients with the sickle cell trait usually require minimal care. A patient with medical conditions, including those associated with the attribute, is only recommended for diagnosis. Medical professionals need to understand the complications affiliated with sickle cell trait so that once patients express symptoms, prompt management can commence. Sickle cell trait is diagnosed with a simple blood test. Patients at risk of having sickle cell trait may think about getting this test with a physician or medical clinic.

Ethical considerations including a potential ethical dilemma

Ethical issues involving tissue or fluid from human bodies are potential ethical dilemma most of the body fluids and tissue are generally obtained for public health screening or clinical medical care monitoring. Sickle cell trait is diagnosed with a simple blood test, the collection, processing and disclosure of body blood information regarding Sickle cell trait all carry ethical elements. The ‘ intention ‘ for which the body sample was taken from the person is of crucial importance here. Was it taken from a trusting relationship between both the physician and the patient for his medical care? The relation between the physician and the patient is based on clinical ethics regulations and duties.

Ethical, theoretical foundations

Ethical values are basic rules of conduct that form a conceptual framework in which the actions, purposes and motives which have been respected are defined. Ethics are moral values governing how well the group or person will act or behave themselves. The emphasis is on the wrong and right actions and includes the decision-making process to determine the quintessential consequences of one’s actions. Healthcare ethics are essential because nurses have to understand healthcare dilemmas, make excellent decisions and policies based on their principles while keeping within the laws governing them. Nurses, like with all health care providers, should have legislation and guidance within the field of work to practice competently with integrity.

Relevant legal and professional policies

With regards to professional policies, Nurses should:

• Identify clients who could benefit from particular Sickle cell trait evaluation, genetic, genomic and evaluation-based information or services.
• Recognize client-specific, credible, accurate, adequate and current genetic and genomic data regarding Sickle cell trait, resources, programs or technologies.
• Identify social, racial economic, religious, legal, financial and societal issues relating to genetic and genomic information and technologies.
• Identify issues that undermine all clients ‘ rights to autonomous, informed genetic and genomic decision-making

With regards, professional policies nurses should

• Providing care within the legal framework of practice
• Periodically examine the competency of practice, identify areas of success, as well as places where professional development in genetics and genomics would be helpful.
• Advocate for autonomous decision-making and voluntary action for all clients with information about genetics and genomics.

Interprofessional care

Providing SCD patients with the best medical experience requires communication and coordination among all stakeholders involved in a patient’s care. This cooperative approach is known as interprofessional care, which is aimed at helping nurses collaborate in the delivery of the highest quality care SCD patients. Interprofessional attention can lead to better results and enhanced patient safety if done correctly. An interprofessional care setting may offer various advantages including: “improved access to healthcare, better outcomes for people with genetic or chronic illnesses, reduced stress and friction amongst nurses, efficient use of hospital resources.

Nursing care strategies

Nurses must

Use interventions and information based on Sickle cell trait to improve the outcomes for clients.

Works alongside health care providers in the provision of clinical and personalized healthcare.

Carries out interventions/treatments tailored to the clinical and genomic health needs of clients

Assess the impact and efficacy of genetic and genomic technologies, knowledge, therapies and treatments on

clients’ outcome.