The Role of Genetic Testing in Diagnosing Myelodysplastic Syndromes

A recent article titled ‘How I use molecular genetic tests to evaluate patients who have or may have myelodysplastic syndromes’ published in the journal Blood discusses the role of genetic testing for the diagnosis of myelodysplastic syndromes. It is based on the case studies of four patients, each of who underwent genetic evaluation. To read the source article in full, you can find it here at Blood’s website.

About Myelodysplastic Syndromes

Myelodysplastic syndromes (MDS), also known as myelodysplasia, are a rare form of blood cancer that is associated with low levels of healthy blood cells. There are many different forms of MDS, which vary in severity and how aggressive they are. MDS often affects people between the ages of 70 and 80, although it can develop at any age.

The bone marrow produces red and white blood cells and platelets, but, in people with MDS, not enough of these cells are produced. Often the bone marrow of people with MDS will produce immature forms of these cells that don’t function properly, and over time the levels of healthy cells may decrease. You can read more about MDS here.

Diagnosing MDS

MDS is often diagnosed using blood tests and bone marrow tests, which may be used to see how many normal and abnormal blood cells a person has.

According to the American Cancer Society, in some cases, patients may also be given chromosome tests. These examine the chromosomes (long DNA strands) in cells because MDS is often associated with abnormal chromosomes. This may be done by looking at cells under a microscope (cytogenetics).

The ACS says that another form of genetic testing is fluorescent in situ hybridisation (FISH), which uses fluorescent dyes to tag certain gene or chromosome changes. This is useful for looking more closely at the DNA. Polymerase chain reactions are a third genetic test that is very sensitive and may be used by doctors.

The Article

The article in Blood discusses the role of genetic testing as a diagnostic tool for people with MDS. It describes four patients (two women and two men in their 60s and 70s), and how genetic molecular testing was used in their cases.

The article concludes that molecular genetic testing can help to confirm a clonal disorder in patients with unexplained cytopenias (lower than normal level of blood cells). Next-generation sequencing, the article says, may also help guide medical professionals’ decisions about how to treat patients with MDS in some cases. However, DNA sequencing is likely to become one of several techniques used by doctors. To read the journal article in full, follow the link at the top of the page.

This article outlines some methods commonly used for diagnosing MDS, but it isn’t designed to give medical advice. For medical advice, you should always consult a medical professional.


Anna Hewitt

Anna Hewitt

Anna is from England and recently finished her undergraduate degree. She has an interest in medicine and enjoys writing. In her spare time she likes to cook, hike, and hang out with cats.

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