How Telomere Testing Is Being Used In Hospital Settings

Telomere testing is used as a diagnostic tool by medical professionals. When looking to find out about a patient’s health, this kind of test can reveal important information. While this type of testing is not yet widespread throughout the medical community, recent research published in PNAS has shown the rise and success of its use in hospital-based settings.

2018 Study Into Telomere Testing In Hospitals

The National Academy Of Sciences released research into the diagnostic utility of telomere length testing in a hospital-based setting, February of this year.

The study looked into the conclusions that could be gained from telomere testing on patients in hospitals. Physicians were able to draw a diagnosis and alter treatment as a result of the information telomere tests provided them with.

Type Of Telomere Testing

The value of TL measurement by flow cytometry and flow-FISH was tested in patients with mutations in telomerase and telomere maintenance genes. The researchers concluded that TL measurement by flow-FISH, when used for targeted clinical indications and in limited settings, can influence treatment decisions, leading to a more positive outcome for patients.


Several specific results were arrived at, during this study.

“TL Has a Discrete and Reproducible Normal Range in the Human Population”

The conclusion confirmed the relevance of TL measurements in informing patient care decisions after the data indicated that TL measured by flow-FISH, across different populations in Baltimore and Vancouver, has reproducible upper and lower boundaries.

“There Is an Age-Dependent Short TL Threshold Associated with Disease Risk”

After examining whether TL could be used to identify patients with germline defects in telomere maintenance, the data indicated that TL testing has an outstanding negative predictive value for excluding individuals with clinically relevant mutations across the age spectrum. This was most noticeable in patients under the age of 40.

“The Degree of Telomere Shortening Correlates with Disease Onset and Type in Mutation Carriers”

After first looking into the phenotypes of 100 mutation carriers to assess whether TL does in fact correlate with clinical outcomes, they focused on four common degenerative, fatal complications, and noted several significant associations. The final data showed implications for counseling and surveillance of patients with mutations in telomerase and telomere maintenance genes.

“TL Results Are Actionable for Bone Marrow Failure Patients”

To study whether TL can distinguish the etiology of aplastic anemia, they recruited 38 patients under the age of 40, as this is the age when telomere-mediated aplastic anemia begins to manifests. Doing this showed the importance of TL as a diagnostic tool, bringing to light information that may have otherwise not been looked at. A specific example of this was that in 9 of the patients, the short TL result was actionable. Their primary clinician altered their treatment, including changing the hematopoietic stem cell donor (after evaluating TL or genetic causes in relatives), reducing the transplant preparative regimen intensity, and avoiding empiric trials of immunosuppression therapy.

Important Takeaways From This Research

The study concluded that in a hospital setting, “TL by flow-FISH had outstanding interlaboratory reproducibility, superior to any other TL measurement method heretofore tested”.

If you are a healthcare professional looking to use flow-FISH telomere testing for your patient, you can order a telomere test here.

Full information on this 2018 study into Diagnostic utility of telomere length testing in a hospital-based setting can found in the PNAS.