Expert Voices

Navigating Genetic Testing in an Uncertain Landscape (Op-Ed)

Opinion
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QuantuMDx Group Ltd. handheld genetic testing device.
A U.K.-based company, QuantuMDX, has built a working prototype of a device, shown here, that they hope will allow doctors to perform genetic tests within 15 minutes. The "x-ray" section of this image shows the nanowire biosensor chip and electronics. (Image credit: QuantuMDx Group Ltd)

Bhuma Krishnamachari is an epidemiologist and genetics expert, and assistant dean of research at NYIT College of Osteopathic Medicine. She contributed this article to Live Science's Expert Voices: Op-Ed & Insights.

Genetic testing can tell you whether or not you are at a high risk for a disease like cancer, and then allow you to prevent it — yet such results often lead to a quandary for both patients and doctors.  

There are multiple genes associated with cancer. Doctors often order genetic tests for patients with breast cancer or for those who are at high risk. BRCA 1 and BRCA 2 genes have been the most commonly tested genes to determine hereditary risk for breast cancer, as those individuals with a BRCA mutation have an elevated risk for breast and ovarian cancers. An individual who tests positive for a BRCA mutation may opt to have enhanced cancer screening for early detection, and/or prophylactic surgery to reduce risk.

But gone are the days of testing for specific genes like the BRCA genes. Genetic testing is no longer straightforward; it now involves testing panels of numerous genes. This includes genes like the BRCA genes, where the interpretation of a mutation can be understood, but it also involves testing additional genes with clinical significance that medical experts do not truly understand. The result: An individual's genetic testing results may show genetic changes of uncertain implication. What’s a patient to do?

What genetic tests do, and do not, reveal

Genetic testing has changed dramatically and will continue to change as researchers discover new gene mutations associated with disease, and new genetic testing methods. More information breeds more questions, often without answers. There is no easy resolution for patients or clinicians in terms of what to do with test results of uncertain significance, or genetic changes in a gene with undetermined clinical significance. 

So is uncertain information bad information? Some experts think so, and feel that uncertain results shouldn’t be reported to clinicians or patients. Others disagree and believe that patients are entitled to their genetic results, regardless of whether those results can be interpreted. 

A personalized approach

The world of genetic testing is moving toward individualized medicine. Personalized clinical management for a patient in the face of uncertain results is paramount and means that multidisciplinary teams must be involved in patient care. This team would ideally include genetic counselors, oncologists, surgeons and primary-care providers. 

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This approach ensures that multiple aspects of cancer genetics, including family history and current research, are considered in a patient’s individualized treatment plan. Additionally it helps patients receive proper counseling on the realities of what their tests mean for them, including the potential for uncertain results. 

Genetic counselors are particularly instrumental in this piece of the genetic testing puzzle. Recent research suggests that some physicians may lack current knowledge about hereditary-cancer genetic testing, which makes it more important for a patient to seek out a multidisciplinary team when pursuing genetic testing. 

It will take time for knowledge and clinical practice to catch up to genetic technology.  But there is cause for optimism. We are on the cusp of genetic discoveries that will change healthcare, and this is truly something to be excited about.

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Bhuma Krishnamachari
NYIT College of Osteopathic Medicine