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Genetic Testing Could Open the Door to a Whole New Healthcare System


3 things that healthcare leaders must understand about genetic testing.

There’s still a lot we don’t know about genetic testing. As a field, it’s in its infancy. The announcement that the human genome had been sequenced occurred less than 20 years ago, in early 2001. It was a landmark scientific breakthrough. Since then, tens of thousands of genetic tests have come on the market, fueling the perception that genetic testing can provide sophisticated, definitive results. Yet sequencing was only the beginning of learning about an incredibly complex array of information. There simply hasn’t been enough time to complete the studies required to develop comprehensive, causal relationships between one’s genetic makeup and one’s expected outcomes. We don’t even know what we don’t know.

>> READ: CRISPR Baby Outrage Grows, Fueling Calls for Prosecution, Bans

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Many Americans are interested in learning about their genetic predispositions, but they’re also wary about taking genetic tests. Some are fearful that the results will give them bad news — such as the probability of developing an incurable disease like Alzheimer’s. Yet a more vocal concern relates to who will have access to the information now or in the future. A genetic marker for ovarian cancer might be considered a “pre-existing condition” to an insurance company. Many Americans are concerned that the information revealed in genetic testing might, paradoxically, exclude them from the insurance coverage they’ll need to manage the diseases they’re expected to develop.

One thing we do know with absolute certainty: genetic testing is here to stay, and we can expect it to become part of our personal health records. No doubt there are many ethical issues related to testing that must be addressed. We have entered an awkward stage where technology has advanced faster than policy makers are able to regulate it. But the wealth of powerful information that a properly administered and interpreted genetic test can provide is too useful in enhancing clinical treatments to be ignored.

Here are a few more things to consider when ordering up a genetic test:

The ability to interpret the results hasn’t kept up with the rate of genetic testing.

For the most part, the results of a genetic test are not black and white. The tests indicate a predisposition, or a likelihood, that an individual may develop a disease or condition. Unfortunately, many doctors lack the training required to explain the nuances of the results of tests to their patients. Physicians may be even more wary of interpreting the results of tests that they did not personally order. This lack of education on both sides of the patient/provider equation can lead to undue concerns, misinterpretations and even erroneous self-diagnosis. Patients are advised to consult with educated personnel before they take decisive, clinical action based on the results of a genetic test.

At the same time, some genetic tests do have a high degree of efficacy.

Tests that focus on one specific area have proven extremely reliable, especially for individuals with a familial connection to a certain disease. BRCA testing is a well-known example. Women with a family history of breast cancer may want to be tested for the BRCA1 and BRCA2 genes. A positive result can indicate that an individual has a high chance of developing a very aggressive, early onset form of breast cancer. These individuals can proactively manage the situation through close monitoring and regular preventive testing or opt for pre-emptive mastectomies.

The most important takeaway is that the results of genetic tests can, and should, empower us to engage in positive, preventive behaviors so we can better manage our health.

Test outcomes indicate a proclivity, not an inevitability. With proper genetic and medical counseling, each potential health issue can be managed or even prevented through behavioral modifications, properly administered medications or other clinical recommendations. Interpreting the results of genetic test as a fait accompli, as an excuse to do nothing, is a lost opportunity for many Americans to live longer, healthier lives.

Janis Powers, author of Health Care: Meet the American Dream, is an adviser to providers specializing in strategy and operations. She has worked for the full spectrum of providers, including federally qualified health clinics, academic medical centers and integrated delivery systems. She is alumna of Yale with a master’s degree in business and architecture from the University of Michigan, and lives in Austin, Texas with her family.

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