Genetic Testing: Perception vs. Misconception

The number of gene therapies in development has increased more than 150% over the past four years, while in Great Britain, an ambitious plan to sequence the genome of every baby sparks conversations among consumers and experts alike around fast-tracking genetic discovery. However, the speed of genetic advances is outpacing many healthcare providers’ understanding of how to leverage these discoveries to benefit patients’ health. It is also creating confusion for consumers regarding what is possible now and what is still on the horizon.

When it comes to genetic testing and treatments, how can healthcare professionals and consumers overcome common misconceptions to make the right decisions for healthcare? Here are four common misconceptions and how to overcome them.

Misconception No. 1: All genetic tests that are ordered are medically necessary.

While most primary care physicians receive at least some genetics education in medical school, this survey shows just 14% are confident they could accurately interpret genetic results. And while three-in-four physicians agree that genetic testing is useful in evaluating an individual’s risk for genetic disease, only 40% are knowledgeable about the genetic basis for common disease. The impact:

  • A recent study at one hospital showed that more than one-third of genetic tests were ordered incorrectly—and the costs for hospitals go even higher when tests must be sent to outside labs. 
  • Patients’ anxiety increases and care quality suffers when patients receive the wrong test. 
  • Even worse: The results of inappropriate tests can drive ineffective treatments.

That’s why genetic counseling is vital to take place before tests are ordered and performed. Genetic counseling empowers primary care and specialty physicians to ensure the best decisions around genetic testing for their patients based on evidence and clinical utility. It also gives physicians a resource for accurately interpreting results. Patients, too, benefit from the ability to talk with a genetic counselor to make informed decisions about testing and what the results will mean for them based on their medical and family history. 

At InformedDNA, our experience with one national payer shows that 80% of testing decisions were impacted by the availability of a genetic counselor at the point of ordering.  InformedDNA research revealed that 27% of testing requests were changed to a more medically appropriate genetic test as a result of conversations between the physician and a genetic counselor. Additionally, 4% of tests were withdrawn by physicians because the tests were found to be medically unnecessary.  

Misconception No. 2: Genetic tests provide interpretable results if the clinician knows how to read them correctly.

One of the most common misconceptions related to genetic testing is that all genetic tests lead to interpretable results or results that can confirm or predict, with a high degree of accuracy, the likelihood that someone has or will develop a genetic disease or condition. However, there are limitations to genetic testing that physicians and consumers should be aware of:

  • If the wrong test has been ordered, the test result may not be relevant. This may provide false confidence for someone with a negative result, or it may provoke unnecessary anxiety in a patient for whom the test isn’t clinically relevant.
  • The level of risk associated with genetic mutations varies. With breast cancer, for example, a mutation in one of several genes—not just BRCA1 and BRCA2, the most well-known breast cancer genes—can increase an individual’s risk of developing several cancers, including breast cancer. But geneticists tend to put breast cancer genes in different categories of risk, such as “low,” “moderate”, or “high” risk. Women who have a mutation in a low- or moderate-risk gene have a lower chance of developing breast cancer—in the range of 30% to 35%. Understanding the level of risk associated with a genetic mutation is critical to determining the right interventions, such as whether mastectomy should be considered.
  • Some genetic variants don’t provide definitive answers, requiring additional testing. For example, if a variant of uncertain significance is found, there may not be enough evidence to predict whether this variant is clinically significant (for instance, whether it could be the cause of a genetic disorder). In an instance such as this, expert test interpretation is needed as well as additional testing may be needed.

This is one reason why the complexity of genetic testing interpretation can intimidate physicians who are not genetics specialists—and why the right conclusions depend on genetics expertise.

Misconception No. 3: Newer technology yields better results.

One of the most recent advances in genetic testing is cell-free testing, in which tests such as prenatal testing can be performed using saliva or blood. It’s an option that is particularly popular in reproductive medicine, especially among young mothers-to-be, and we expect demand for cell-free testing to increase in 2021 due to factors such as decreased cost, rapid turnaround times, reimbursement by commercial payers, and rising awareness among consumers. But as the use of this technology is expanded, we are seeing unexpected results. For example, in pregnant women, issues such as confined placental mosaicism (when two genetically different sets of cells are found in the placenta), maternal organ transplant from a male donor, and the presence of an autoimmune disease can result in a high false-positive rate for microdeletions. A small proportion of samples return an uninterpretable result, requiring retesting—sometimes more than once.

Access to genetic counselors—with counseling provided to the patient before and after testing—can prepare patients for the potential for an unexpected or uninterpretable result. Counselors also can coach healthcare providers on how to respond to scenarios where a result is unavailable or unexpected. This helps reduce anxiety for patients and ensures that the appropriate next course of action is taken. It also provides the basis for more informed decision-making.

Misconception No. 4: Genetic testing can provide the answers to most medical mysteries.

Even as thousands of new genetic tests and therapies enter the market each year, there is still much we don’t know. Case in point: Just because a test exists doesn’t mean we know how to apply and interpret it. Providers can struggle to understand the benefits and constraints of genetic tests given that so many new tests are released so quickly. In 2020, the healthcare industry began to see a crush of data coming from clinical trials, yet little understanding about what to do with this data. Additionally, a significant number of genetic tests are laboratory-developed tests, which aren’t regulated by the FDA. Often, evidence around the clinical utility of these tests isn’t available until well after these tests are on the market.

What is needed is a best-practice approach to genetic test policy development. For example, investment in access to clinical and molecular genetics specialists can inform health plan policies around genetic testing and therapies, bridging the gap between what is available in the field of genetics and what is medically necessary and has clinical utility. Leading health plans are considering modifications to their coverage policies to accommodate the unique pace of development of genetic tests. They are also providing access to genetics expertise for ordering healthcare providers, and genetic counseling—including via telehealth—for consumers to help them navigate tough decisions.

InformedDNA partners with health plans to employ innovative approaches to Genetic Benefits Management, policy development, and implementation. InformedDNA co-authored the nation’s first policy for exome sequencing with medical coverage criteria—a policy that numerous health plans adopted in subsequent years. Our experience shows that when health plans proactively manage genetic benefits for members, their cost trend is up to 40% lower than that of other health plans.

Cutting Through Misinformation

The ability to make informed decisions around genetic testing and therapies is key to capturing the full possibilities and value of precision medicine. As new research and technologies transform the genetic landscape, access to genetics expertise empowers both physicians and consumers to make informed decisions for health.

About InformedDNA

Founded in 2007 as the first telehealth genetics services company in the U.S., InformedDNA offers the largest, most experienced staff of fully employed (not contracted) board-certified genetic counselors, providing coverage across all genetics specialties and across all states. We aren’t lab-owned or lab-sponsored, so our genetic counselors have no conflicts of interest in advising healthcare providers and patients on the most appropriate use of genetic tests and their results. And, we are an “in-network” provider with most leading national health plans as well as many regional plans. (You may request our in-network health plan list by clicking here.)

Let’s talk about how we can help with your health system’s genetic counseling needs. Just send an email to; give us a call at 844-846-3763; or, submit the short form below and we’ll get in touch quickly.


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