Illustration of Genome DNA structure. Photo: Deposit Photos

21 Jan Health: What Does Genetic Testing Mean for Healthcare Decisions?

By Janis Powers

It’s a modern marvel: share some of your bodily fluid—be it blood, sputum, or even urine—and you can unlock the secrets of your own DNA, which will give you clues about your long-term health outlook.

You may learn that you have a high probability of developing Parkinson’s disease. Or that you could be a carrier for cystic fibrosis, sickle cell anemia, or hereditary hearing loss. Our bodies contain a wealth of untapped information about our health. Knowledge, as they say, is power.

But is there such a thing as too much knowledge? 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.

But 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 could develop.

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

There’s still a lot that 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. They’ve fueled the perception that genetic testing can provide sophisticated, definitive results. But 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 your genetic makeup and your expected outcomes. We don’t even know what we don’t know.

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 aren’t 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 didn’t personally order. This lack of education on both sides of the patient-provider equation can lead to undue concerns, misinterpretations, and even erroneous self-diagnoses.

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 an aggressive early-onset form of breast cancer. These individuals can proactively manage the situation through close monitoring and regular preventive testing. Or they can opt for pre-emptive mastectomies.

One thing we do know with absolute certainty is that genetic testing is here to stay. And we can expect it to become a 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 policymakers are able to regulate it. But the wealth of powerful information that a properly administered, interpreted genetic test can provide is too useful in enhancing clinical treatments to be ignored.

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, and 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 is an advisor to healthcare providers specializing in strategy and operations. Her new book, Health Care: Meet the American Dream, proposes a revolutionary new healthcare system that leverages the power of genetic testing.

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