The Genetics Laboratory offers comprehensive services encompassing all aspects of chromosome studies, including congenital diseases, prenatal diagnostics, and hematologic or oncologic conditions. The laboratory provides technical guidance and consultative expertise to ensure quality patient care and foster interprofessional collaboration. This assessment will address the inheritance and genetic changes, describe the genetic procedure determining gender, explain the results of the karyotype, explore how chromosomal abnormalities affect body systems, and discuss the pros and cons of genetic testing and its impact on patients.

Chances of Individuals Inheriting the Autosomal Trait

When both parents are carriers or heterozygous, autosomal recessive diseases most frequently manifest, with a 25% probability of passing the condition to their offspring. According to the Punnett square model, the allele responsible for the illness has a 50% probability of inheritance from each parent (Gulani & Weiler, 2020). The probability multiplication rule suggests a 50% chance for both the mother and the father to transmit their disease allele (Gulani & Weiler, 2020).

Inheriting two disease alleles with a recessive pattern results in an autosomal recessive disease, following Mendel’s Law of Segregation. Pedigree analysis helps identify the inheritance pattern in families, with autosomal recessive disorders typically affecting males and females equally. The pattern may skip generations, and affected individuals are often the offspring of unaffected carriers. Horizontal transmission may explain the presence of sick individuals in multiple locations (Gulani & Weiler, 2020).

The Gender of the Second Patient in a Lab Scenario

Sandra, a 28-year-old sickle cell anemic patient in her third trimester of pregnancy, sought a prenatal genetic checkup. Sickle cell disease (SCD) results from a monogenetic condition caused by a single base-pair point mutation in the -globin gene. The disease’s phenotypic diversity is characterized by recurrent pain episodes, chronic hemolytic anemia, and increased susceptibility to infections (Inusa et al., 2019).

SCD is an autosomal recessive disorder, and its prevalence is not influenced by gender. However, reports indicate sex-related variations in SCD mortality and morbidity among adult patients, with higher mortality in men (Ceglie et al., 2019).

Results of the Karyotype

Karyotype testing is essential for recognizing and treating various diseases. Positive results indicate unexpected changes in the number or structure of chromosomes, while negative results confirm the absence of such mutations. Abnormal results can provide insights into the patient’s or child’s health based on the identified chromosome mutations (Shi et al., 2019).

Genetic Counselor’s Explanation

Karyotype testing, while identifying genetic mutations on the 11th chromosome, may not fully detect sickle cell anemia and requires additional tests, including genetic and prenatal testing.

Positive and Negative Ramifications of Genetic Testing

Genetic testing for rare diseases raises ethical considerations related to individuals, organizations, and healthcare systems (Kruse et al., 2022).

Positive Ramifications:

• Rapid genetic diagnosis advancements, particularly with next-generation sequencing technologies.
• Early and accurate diagnosis reduces the need for intrusive, costly testing.

Negative Ramifications:

• Ethical issues such as privacy concerns with disease disclosure to relatives.
• Ethical concerns regarding post-mortem genetic testing counseling.
• Laboratories may have limited interest in genetic testing for sporadic disorders due to low test volume and high development costs (Kruse et al., 2022).

Impact of Positive and Negative Ramifications

The identified mutation on the 11th chromosome allows Sandra to better treat her child, plan for future pregnancies, but poses a risk to her other children due to increased chances of inheriting sickle cell anemia (Shah & Krishnamurti, 2021).

Conclusion

Genetic testing is a valuable tool for understanding an individual’s genetic makeup and detecting mutations leading to specific medical conditions. Karyotype examination is crucial for timely disease detection and treatment. While genetic testing has pros such as timely disease detection, ethical challenges regarding identification remain a significant concern.

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

BIO FPX 1000 Assessment 5 Genetics Lab

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

BIO FPX 1000 Assessment 5 Genetics Lab

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