Homework: Genetics Lab

The genetics laboratory provides thorough services in all chromosome studies, including congenital diseases, prenatal diagnostics, and hematologic or oncologic conditions. The genetics lab delivers technical guidance and consultative expertise to provide quality patient care and ensure interprofessional collaboration. In this assessment, I will discuss the inheritance and the genetic changes, then describing the genetic procedure by which gender is determined, then explaining the results of the karyotype and the process by which the chromosomal abnormalities affect the body systems, and discuss the pros and cons of the genetic testing and its effects on the patient. 

BIO FPX 1000 Assessment 5 Homework: Genetics Lab

Chances of Individuals Inheriting the Autosomal Trait

When both parents are carriers or heterozygous, the autosomal recessive disease most frequently manifests itself, with a 25% probability of passing the condition on to their offspring when both parents are carriers. Based on the Punnett square model related to genetics calculations, the allele responsible for the illness has a 50% probability of being inherited from each parent (Gulani & Weiler, 2020). According to the probability multiplication rule, there is a 50% chance that the mother will pass on her disease allele and a 50% chance that the father will transmit his disease allele to the child (Gulani & Weiler, 2020).

When a person inherits two disease alleles with a recessive pattern, they get an autosomal recessive disease, which manifests as the disease phenotype. The inheritance of an autosomal recessive disorder implies that both parents must possess at least one copy of the disease-causing allele, according to Mendel’s Law of Segregation (Gulani & Weiler, 2020). Analyzing a pedigree is the simplest method to identify the pattern of inheritance of a disease in a family. Autosomal recessive disorders usually impact males and females equally. These patterns often skip generations since the affected individuals are usually the offspring of unaffected carriers. Affected people who have unaffected offspring are also frequently seen. The fact that sick people are frequently observed in multiple locations suggests horizontal transmission in this type of pattern  (Gulani & Weiler, 2020).

The Gender of the Second Patient in a Lab Scenario

Sandra is a 28 years old sickle cell Anemic patient, pregnant in the third trimester. She visited the lab for a prenatal genetic checkup as she was concerned about the health of her unborn baby. Sickle cell disease (SCD) is a monogenetic condition caused due to a single base-pair point mutation in the -globin gene, which causes the amino acid valine to replace glutamic acid in the -globin chain. A defining trait of the condition is phenotypic diversity in the clinical presentation and course of the disease (Inusa et al., 2019).

Sickle cell anemia is a genetic blood disorder that affects approximately 72,000 individuals in the United States, or 1 in 500 African Americans, making it the most common genetic blood condition in the country. This condition usually begins in early childhood and is characterized by recurrent episodes of pain, chronic hemolytic anemia, and increased susceptibility to severe infections. The hemoglobin beta gene (HBB), located on chromosome 11p15.5, has a point mutation leading to the autosomal recessive condition known as SCA. As carriers are slightly protected from malaria, high carrier frequencies of HBB are related to regions where the disease is prevalent. Approximately 8% of African Americans are carriers (Murad et al., 2019).

Sickle Cell Anemia and Gender

As sickle cell disease is an autosomal recessive illness, its prevalence is not influenced by gender. Nonetheless, reports of sex-related variations isn SCD mortality and morbidity in adult patients have been made. Moreover, a higher mortality rate in men, with a mean death age of 42 years for men and 48 for women, has been evidenced through literature(Ceglie et al., 2019).

Results Of The Karyotype

Karyotype testing is required to recognize and treat illnesses like leukemia, lymphoma, myeloma multiform, and anemia. The results include being positive or negative. An abnormal or positive result indicates the presence of unexpected changes in the number or structure of chromosomes. Depending on the chromosome mutations discovered, abnormal results can indicate various things concerning the patient’s or child’s health. In contrast, a standard or negative result indicates that the sample’s 46 chromosomes were present without undergoing any unexpected genetic mutations (Shi et al., 2019).

Genetic Counselor’s Explanation

The karyotype testing can not fully detect Sickle cell anemia and requires more tests along with it. Although genetic mutation at the 11th chromosome was denoted, it still requires more testing to be clear about the disorder, such as genetic and prenatal testing.   

BIO FPX 1000 Assessment 5 Homework: Genetics Lab

Positive and Negative Ramifications of Genetic Testing

Many ethical issues regarding individuals, organizations and the overall structure of healthcare systems are related to genetic testing. In particular, the provision of genetic testing for rare diseases necessitates a thorough comprehension of the complexity and variety of connected ethical considerations (Kruse et al., 2022). 

Positive Ramifiactions 

• The possibility of receiving a genetic diagnosis quickly has increased because of advancements in genetic testing, particularly next-generation sequencing technologies.
• Early and accurate diagnosis reduces the need for further intrusive, costly testing to treat a disease.

Negtive Ramifiactions 

• Ethical issues such as privacy about the disease from other relatives
• The ethical issue over things like post-mortem genetic testing counseling
• Particularly for sporadic disorders, laboratories frequently have little interest in genetic testing due to the low test volume and high costs associated with their development and validation (Kruse et al., 2022).

Impact of Positive and Negative Ramifications 

The impact of Positive and Negative Ramifications on individuals is that Sandra will be better able to treat the child because it has been identified with a mutation on the 11th chromosome. Moreover, She’ll be able to cover the disease in her next pregnancy planning as well. In addition, it can be a rsik for her other children to get sickle cell due to the fact that her first unborn is likely to get diagnosed with it, as siblings do have higher chances to get sickle cell anemia through the womb (Shah & Krishnamurti, 2021).

Conclusion

Genetic testing is a tool that describes the genetic makeup of an individual. It can well describe the mutation or replacement of any chromosome that can lead to specific medical conditions. Moreover, Karyotype examination can be a helpful tool to detect and timely treat diseases like leukemia, anemia, lymphoma, and myeloma multiform. Some of the pros of genetic testing include the timely detection of disease and other genetic changes, while on the other hand, the major challenge is the ethical issue that is concerned with genetic identification.

BIO FPX 1000 Assessment 5 Homework: Genetics Lab

References

Ceglie, G., Di Mauro, M., Tarissi De Jacobis, I., de Gennaro, F., Quaranta, M., Baronci, C., Villani, A., & Palumbo, G. (2019). Gender-Related differences in sickle cell disease in a pediatric cohort: A single-center retrospective study. Frontiers in Molecular Biosciences, 6. 

https://doi.org/10.3389/fmolb.2019.00140 

Gulani, A., & Weiler, T. (2020). Genetics, Autosomal Recessive. PubMed; StatPearls Publishing. https://www.ncbi.nlm.nih.gov/books/NBK546620/ 

Inusa, B., Hsu, L., Kohli, N., Patel, A., Ominu-Evbota, K., Anie, K., & Atoyebi, W. (2019). Sickle cell disease—genetics, pathophysiology, clinical presentation and treatment. International Journal of Neonatal Screening, 5(2), 20. https://doi.org/10.3390/ijns5020020 

Kruse, J., Mueller, R., Aghdassi, A. A., Lerch, M. M., & Salloch, S. (2022). Genetic testing for rare diseases: A systematic review of ethical aspects. Frontiers in Genetics, 12. https://doi.org/10.3389/fgene.2021.701988 

Murad, M. H., Liem, R. I., Lang, E. S., Akl, E. A., Meerpohl, J. J., DeBaun, M. R., Tisdale, J. F., Brandow, A. M., Lanzkron, S. M., Chou, S. T., Webb, S., & Mustafa, R. A. (2019). 2019 sickle cell disease guidelines by the American Society of Hematology: methodology, challenges, and innovations. Blood Advances, 3(23), 3945–3950. https://doi.org/10.1182/bloodadvances.2019000931 

Shah, N., & Krishnamurti, L. (2021). Evidence-based minireview: In young children with severe sickle cell disease, do the benefits of HLA-identical sibling donor HCT outweigh the risks? Hematology, 2021(1), 190–195. 

https://doi.org/10.1182/hematology.2021000322 

Shi, Y., Ma, J., Xue, Y., Wang, J., Yu, B., & Wang, T. (2019). The assessment of combined karyotype analysis and chromosomal microarray in pregnant women of advanced maternal age: a multicenter study. Annals of Translational Medicine, 7(14), 318–318. https://doi.org/10.21037/atm.2019.06.63 

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