Multiple Myeloma Hub

Definition

General Details of Cytogenetic Testing

Cytogenetic testing analyzes cell chromosomes, also known as DNA, for some types of cancer or genetic conditions. Cytogenetic testing is most frequently used along with other tests in diagnosis of leukemia, and multiple myeloma, and as part of prenatal testing in pregnant women. Some of the chromosome abnormalities that are checked for in cytogenetic testing include abnormal structure or abnormal numbers of chromosomes in a cell-like monosomy or trisomy. Cancer can impact the structure of chromosomes and lead to abnormalities of deletions, duplications, translocations, inversions, and insertions including but not limited to abnormalities like translocation 11;14, translocation 14;16, translocation 14;20, and 17q deletion. Cytogenetic testing may sometimes be carried out with a small blood sample, while other times a bone marrow sample will be taken via a bone marrow biopsy or bone marrow aspiration. Three main types of testing fall under the umbrella of cytogenetic testing with chromosomal microarray analysis (CMA), fluorescence in situ hybridization (FISH) testing, and karyotyping comprising these types.

Disparities of Cytogenetic Testing

Research studies have evaluated different disparities in cytogenetic testing. A multiple myeloma study looked at the Boston University Amyloidosis Center to compare the cytogenetics of amyloidosis (AL) in Black American patients versus white American patients. The study coordinators concluded that although amyloidosis is generally similar between racial groups, immunoglobulin heavy chain (IgH) translocations could be more common among Black Americans in comparison to their white American counterparts. The study coordinators also concluded that even with taking biologic differences into consideration, other factors like socioeconomic factors are more likely to have a major impact on racial disparities in amyloidosis. Another multiple myeloma study examined cytogenetic testing across the United States. In this study, a significant amount of variance in testing methods was found. Due to this variance in testing, the study concluded that the risk to treatment approaches and health outcomes could be impacted negatively in cases where testing wasn’t performed on enough cells for testing accuracy.

Another research study evaluated for disparities in prenatal genetic counseling of cytogenetic testing. In this study, it was concluded that women who started prenatal care later in their pregnancies were less likely to receive prenatal genetic counseling. The study finding was especially concerning because women in lower socioeconomic classes were more likely to start prenatal care later than their counterparts of higher socioeconomic classes.

Why This Matters

Standardized cytogenetic testing and counseling is essential for equitable care for all cancer patients and prenatal patients and their unborn babies. Cytogenetic testing is key in setting personalized treatment plans for cancer types like leukemia and multiple myeloma and is also vital for determining potential medical issues for unborn babies.

Call to Action

Cytogenetic testing is a necessity for leukemia and multiple myeloma patients and for expectant mothers during early prenatal care. Patient advocates can write to their congresspeople for more funding to support cytogenetic testing for all. If you have questions, ask your healthcare professional, and make sure to emphasize if you have a known genetic risk factor that is in your family medical history.

Brooke Whitaker, DCLS, MLS(ASCP)cm is a doctor of clinical laboratory science. You can find her on Twitter: @BrookeW74021416