Genetic and Genomic Technology

The significant scientific fields that are essential in providing knowledge of the operation of a single gene or all genes for both patients and health practitioners are genetics and genomics fields. Testing is typically conducted on the client’s genetics to diagnose better and initiate effective therapeutic measures to treat the client’s clinical issues. This essay will outline the plan of care that will focus on specific genetic testing technology, polymerase chain reaction (PCR), which was used in a genetic carrier screening test process to test, and subsequently generate a plan for sickle cell anemia in a female patient tested positive for the mutated gene that causes the disease.

Explanation of a Specific Genetic or Genomic Testing Technology

Sickle cell disease (SCD) is a global illness instigated by the alteration in the beta-globin gene in which a particular nucleotide is replaced by thymine at codon 6 of the HBB gene resulting in the creation of abnormal hemoglobin termed hemoglobin S (Hb S). This is because of the alteration of glutamic amino acid is substituted by valine leading to a multisystem disorder linked with gradual organ dysfunction, painful episodes, and acute ailment.

Clinical laboratory and molecular tests are essential in detecting Hb S and confirmation of the diagnosis of SCD. Genetic test is essential for the detailed uncovering of the variant kinds of SCD based on detecting beta-globin mutation that results in SCD progression. The polymerase chain reaction (PCR) based technique is an example of genetic text that uses specific enzymes (proteins) to intensify particular fragments of the genetic materials to several copies utilizing exact primers. The polymerase chain reaction can distinguish well-recognized single genes or various genes in a single tube. The components of this technique include; a DNA sample from the patient, DNA primers (sequences of ss-DNA that anneal to the complementary strand of DNA), DNA polymerase (enzyme), and nucleotides that act as building blocks to build the complementary DNA strand. This technique encompasses denaturation, annealing, and elongation processes that recurred for twenty to forty thermal cycles. The end product is distinguished by gel electrophoresis, sequencing, melting curve evaluation, or monitoring the alteration in fluorescence. The denaturation process, alteration of DNA structure, occurs at 94^oC, where the double-stranded (ds) DNA melts and separates into two pieces of single-stranded (ss) DNA.

In contrast, the annealing process occurs at 55^oC, where the primers pair up with the ss-DNA template. The elongation process occurs at 72^oC resulting in a ds-DNA molecule (Does, 2013). There are various simple and effective polymerase chain reaction-based techniques documented to detect beta mutation; for instance, the amplification-refractory mutation system (ARMS) is used to detect point mutation or small deletion using primers with precise classifications to enable the intensification of DNA in the presence of the aimed allele; hence, the recognition of the allele is based on the presence of the PCR product. The amplification-refractory mutation system has been effectively utilized in prenatal analysis by detecting sickle cell alteration in an embryonic sample.

Indication of Positive Results of The Testing Technology

The amplification refractory mutation system-PCR is typically vital and the most accurate tool in genetic disease diagnosis. It has lower polymerase chain reaction cycles ranging from twenty-two to twenty-five cycles than thirty-five regular cycles. This is essential because increased cycles might lead to false-positive results. Fewer cycles build internal controls that offer additional accuracy by minimizing the chance of false-positive outcomes. Once the DNA samples are amplified through the PCR technique, the amplified materials are loaded on the two percent agarose gel electrophoresis to obtain the outcome without hybridization. The materials are loaded sequentially and run for forty-five minutes. In the result interpretation, the presence of internal control bands in the well illustrates that the reaction has no false-positive results (Van, 2020). The differences in the banding patterns demonstrate the normal and mutant alleles.

Plan of Nursing Care Strategies Based on Positive Results

It is crucial to identify that although nurses are not skilled in genetics, it is their responsibility to generate a patient care plan to address the genetic outcomes. Their role is to ensure the outcomes are flagged in the client’s chart. The caregiver can also suggest that the client generate his pedigree. However, the practitioner should first explain what a pedigree encompasses and help the client generate one indicating generation of families. The pedigree will assist in tracing the existence of sickle cell anemia in the family and determine who might require screening. The plan of care should also include a genetic makeup for the provision of ancestral knowledge. The plan should significantly have an appropriate referral to practitioners who will be better prepared to address any detailed patient genetic query (Piel, 2017).

Interprofessional Resources

The health practitioners may suggest the client visit a clinical geneticist who is either a medical specialist or osteopathic since these practitioners tend to spend two years focusing on genetic counseling and various therapies to manage a particular genetic condition. These medical professionals conduct screening analysis to recognize any allele that might cause the client to, in this scenario, get sickle cell disease or pass it on to their offspring. The practitioners can also administer therapeutic plans which can assist in mitigating the symptoms of the illness. Secondly, the caregiver can suggest the client visit a certified genetic counselor who has a master’s in genetics disease analysis. In this concept, the professional would spend his ample time counseling families on specific genetic risks they could incur, handling the process professionally and ethically, and focusing on the patient’s improvement. A hematologist might be the crucial specialist to answer any definite concerns and any precise therapy for sickle cell disease (Piel, 2017).

Resources for facilitation of genetic and genomic referrals

The referrals to genetic specialists are conducted if the health practitioners suspect a substantial risk of the disease. Although, some factors of the health system, such as personalized healthcare, can identify the genetic challenges which might provoke people into genetic testing. It reveals family situations that might associate with congenital anomalies. The caregiver can also refer the patient to a support group such as the sickle cell disease association of America, which understands genetic disease and provides quality programs that focus on the entire family’s wellness. Involvement in the sickle cell program has shown a significant improvement in clients suffering from this disease because the program provides comprehensive pain management and medical treatment to the clients and allocates psychologists and social workers to care for the whole family (Dampier, 2017).

References

Dampier, C., Palermo, T. M., Darbari, D. S., Hassell, K., Smith, W., & Zempsky, W. (2017). AAPT diagnostic criteria for chronic sickle cell disease pain. The Journal of Pain, 18(5), 490-498.

Does, W. P. (2013). Polymerase chain reaction. J. Investig. Dermatol, 133.

Piel, F. B., Steinberg, M. H., & Rees, D. C. (2017). Sickle cell disease. New England Journal of Medicine, 376(16), 1561-1573.

Van Campen, J., Silcock, L., Yau, S., Daniel, Y., Ahn, J. W., Ogilvie, C., … & Oteng‐Ntim, E. (2020). A novel non‐invasive prenatal sickle cell disease test for all at‐risk pregnancies. British Journal of Haematology.