Genetic Testing Landscape

The combination of increasing volume, complexity (types of genetic variants being investigated for condition risk) and limitations in coding make the field of genetic testing a challenging area for employers. This document provides an overview of the uses of genetic testing as well as some key considerations when examining your plan design.

November 27, 2023

Precision medicine has great potential to improve patient care and outcomes. The speed of clinical progress has been unprecedented, most notably benefiting patients at risk for, or affected by, genetic conditions.

Genetic tests identify genetic mutations and can help determine an individual’s risk of developing or passing along a genetic disorder. They are also used for diagnostic purposes and to inform treatment protocols. The types of genetic tests most relevant to each patient vary based on individual circumstances and risk factors. The applications of genetic testing also vary by disease. While genetic tests aren’t necessarily new to the clinical landscape, the number of available genetic tests on the market has increased greatly in recent years, and the clinical innovation shows no signs of slowing down: there are more than 197,779 genetic tests.2 As a whole, the genetic testing market is expected to grow from $18 billion in 2022 to $43 billion by 2032.54

In recent years, the application of genetic testing has expanded beyond strictly clinical use. Some consumers are embracing the promise of genetic tests to identify their ancestry, the likelihood for certain physical features, dietary needs and their potential for developing some chronic conditions.  These consumers are looking to extremely broad genetic tests panels for answers to a variety of lifestyle and well-being questions. Increased employee demand, while potentially a factor in employee satisfaction, should be carefully weighed against the  clinical utility of tests by those making plan coverage and programmatic decisions.

While some direct-to-consumer (DTC) tests are approved by the Food and Drug Administration (FDA), they may not include all variations of a mutation, potentially resulting in false positive or false negative results. With the broad scope of DTC tests and their varying clinical utility, employers should be aware of potential unintended consequences of offering such programs (most frequently offered through the wellness benefit). Those willing to expand genetic testing access and coverage for their employees should evaluate the full scope of the genetic testing landscape and consider the tradeoffs between investing in DTC tests versus expanding coverage for the tests with a more direct link to clinical utility and disease management, typically covered through the medical plan.

Appropriate and clinically validated genetic testing may have an impact on health assessments, diagnosis and treatment planning across the lifespan. From prenatal and newborn genetic testing at the beginning of life, all the way to risk assessment and diagnostic cancer tests, the applications of genetic testing range far and wide and can inform health care decisions made by patients, their providers and families.

Table 1: Uses of Genetic Tests




Drug Utility/Therapy Assessment

Key Features

Can be self-ordered and administered or physician ordered. DNA is sequenced and results are returned to physician and patient

Physician orders test for patient based on clinical need. DNA is sequenced and results are returned to physician

Physician orders test for patient before beginning specific medications or therapies

Examples of Types of Tests

  • Predictive or pre-symptomatic testing
  • Carrier Screenings
  • Pre-implementation genetic testing
  • Newborn screening
  • Prenatal testing
  • Pharmacogenomic test
  • Companion diagnostics
  • Complementary diagnostics


Identify mutations that increase a person’s risk for developing or passing on disorders with a genetic basis

Identify or rule out a specific genetic or chromosomal condition

Determine the applicability of a specific therapy for an individual

Typically, the provider who orders the genetic test or panel (or refers the patient for one) should have an established therapeutic relationship with the patient, as well as specific knowledge of the test. National evidence-based guidelines and other clinical and accrediting bodies recommend that in addition to tests being provider-prescribed, patients should be referred to pre- and post-test genetic counseling services to ensure that patients understand the procedure, its benefits, limitations and potential consequences of the results.16

Multigene genetic testing, or gene panels use next-generation sequencing to test multiple genes simultaneously.17 It is now possible to screen for a large number of conditions simultaneously; expanded carrier screening panels offered by laboratories typically include options to screen from 5–10 conditions to as many as several hundred conditions at once.18 While analyses of 2018 genetic testing spending found that procedure codes for single gene tests made up 50.2% of overall spending, multigene carrier screenings have the potential for continued growth in utilization and cost.16

Examples of Screening Genetic Tests and Related Coverage Considerations

Predictive or pre-symptomatic testing provides information about an individual’s risk of developing a specific disease later in life. This kind of testing can be helpful for blood relatives of individuals who have been identified with specific genetic mutations.10 Pre-symptomatic testing has important applications within the oncology space, as many genetic mutations and/or indicators relate to predicting the likelihood of developing different types of cancers.

There are several genomic conditions that, if identified via a pre-symptomatic test, can alter the frequency of targeted screening and overall course of treatment. For example, those who have the BRCA1 or BRCA2 gene may choose to undergo mammograms earlier in life and more frequently to increase the likelihood of early detection.

Table 2: United States Preventive Services Task Force (USPSTF) Predictive Genetic Testing Coverage Recommendation Summary




Women with a personal or family history of breast, ovarian, tubal or peritoneal cancer or an ancestry associated with BRCA1/2 gene mutation

The USPSTF recommends that primary care clinicians asses women with a personal or family history of breast, ovarian, tubal, or peritoneal cancer or who have an ancestry associated with breast cancer susceptibility 1 and 2 (BRCA1/2) gene mutations with an appropriate brief familial risk assessment tool. Women with a positive result on the risk assessment tool should receive genetic counseling and, if indicated after counseling, genetic testing.


Women whose personal or family history or ancestry is not associated with potential harmful BRCA1/2 gene mutations

The USPSTF recommends against routine risk assessment, genetic counseling, or genetic testing for women whose personal or family history or ancestry is not associated with potentially harmful BRCA1/2 gene mutations.


Source: United States Preventive Services Task Force (USPSTF). Final Recommendation Statement: BRCA-Related Cancer: Risk Assessment, Genetic Counseling, and Genetic Testing.

The United States Preventive Services Task Force (USPSTF) recommends that women who have a personal or family history of breast, ovarian, tubal or peritoneal cancer or women of a certain ancestry be assessed by their primary care provider and, if indicated, genetic counseling. Any BRCA1 and BRCA2 testing recommended after the counseling should be covered at zero out-of-pocket cost. However, the USPTF does not specify when these screenings should take place.19 Beyond this population, routine genetic testing for BRCA is not recommended and has received a “D” rating.19

In this rapidly evolving landscape, employers may consider other sources for coverage recommendations beyond the USPSTF guidelines, including the recommendations and advice from clinical partners and consultants. Employers considering coverage of  predictive genetic screenings beyond the USPSTF guidelines (i.e., for the population with no known or proven family history), should keep in mind that the evidence for genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility as a screening strategy is limited by lack of studies demonstrating effectiveness, biases inherent in studies conducted in highly selected populations and incomplete information on adverse effects.20

Carrier screenings indicate whether an individual carries a gene for a specific genetic disorder and can be completed by parents before deciding to have children or during pregnancy.21 Coverage policies for carrier screenings are usually predicated on personal/family history and/or race/ethnicity.

DTC Screening Tests: A Unique Set of Considerations

By analyzing DNA samples sent via consumer-friendly testing kits, DTC companies provide access to specific information about ancestry and/or genealogy and the genetic risk of developing several common diseases, as well as certain lifestyle factors. Some DTC companies have also developed more specific tests that may assist in identifying the likelihood of developing diseases such astype 2 diabetes.

The degree to which this information is actionable varies, largely because chronic conditions arise due to any number of factors apart from genetics, such as environment, diet and physical activity. This complicates how directly these tests scores can predict or identify risk. In addition, such tests cannot be used for diagnosing a condition. Finally, due to the lack of ethnic diversity in the genetic databases from which the DTC test risk scores are developed, there are concerns about the accuracy of such tests for individuals who are not of European ancestry.22

Evidence behind the clinical utility of many DTC tests versus other more targeted screening methods is still being evaluated. It is important that employers who choose to offer DTC programs to their members ensure that such programs incorporate appropriate access to genetic counselors who can help patients interpret the results.

Diagnostic Tests

Diagnostic testing can confirm or rule out the presence of a specific genetic mutation or chromosomal condition that enables a clinical diagnosis.23 For example, cystic fibrosis (CF) is caused by a mutation of the genes that produce the CFTR protein. Therefore, a diagnosis can be made after confirming that an individual has inherited two copies of this mutated gene. Diagnostic tests can also confirm a diagnosis based on physical signs and symptoms and be performed before birth or at any time during an individual’s life.10

Although diagnostic testing is not available for all genes or all conditions, it can influence a person’s choices about health care and disease management when administered. Most often, employers follow their carriers’ policies for covering testing as prescribed by the physician and deemed medically necessary.

Drug Utility/Therapy Assessment

Pharmacogenomic tests help determine if a medication is right for the patient. Pharmacogenomic testing can help determine:

  • How likely a medication is to work for the individual patient;
  • The best dose of a medication; or
  • If the patient could have adverse side effects from a medication.24

Pharmacogenomic tests identify genes that predispose individuals to respond better to certain drugs or therapies. Also referred to as “drug-gene testing” or ”DNA drug sensitivity testing,” pharmacogenomic testing is based on the concept that by testing certain genes for variants, providers can become more informed about which medicines or therapies will work better for individual patients.23

Because evidence is still emerging, most pharmacogenomic testing is not covered, although studies into areas of investigation from mental health, opioids and pain management to HIV and tuberculosis drugs may serve to bolster the evidence base.25

Applications of Pharmacogenomic Tests in Managing Depression

In the United States, one in six adults develop major depressive disorder (MDD) in their lifetime. Medication adherence is a challenge due in part to the onerous process of finding the right medication for each patient.26 Pharmacogenomic testing may have applications in behavioral health for some patients, specifically with respect to streamlining treatment decisions.  However, it should be noted that few genetic researchers feel as positive about the current usefulness of gene drug testing as the companies marketing these tests. The American Psychiatric Association’s research council reviewed the evidence in 2018 and found that pharmacogenomic tests for patients with depression are not ready for mass consumption.27

Companion diagnostic tests utilize predictive biomarkers to guide the use of more targeted therapies.28 These tests must be FDA-approved and provide information that is essential to the safe and effective use of a corresponding drug or biological product.29 Currently, there are over 164 FDA-approved companion diagnostic tests, of which more than half are for treatment for non-small cell lung cancer.30 As new gene therapies begin to enter the market, they are increasingly being supplemented with companion genetic tests to determine the ideal candidates for the treatment based on the presence of specific genetic markers. Not only do companion diagnostics identify patients most likely to benefit from a particular therapy, but also can monitor their response to treatment for the purpose of adjusting treatment to achieve improved safety or effectiveness.

Complementary diagnostics tests identify biomarker-defined subsets of patients who respond particularly well to a drug and help providers determine whether to place an individual on a drug/therapy.31 The key difference between complementary and companion diagnostics is that complementary diagnostic tests are not prerequisites for receiving the drug. The lack of a regulatory link to a specific testing technology is another critical distinction between complementary and companion diagnostic tests. A positive complementary diagnostic test result further reinforces the likelihood that a patient will respond to a given drug, while a negative result does not necessarily mean they would not derive a benefit.32

Evaluating the Necessity of Genetic Testing and Related Coverage Decisions

Genetic tests are continuing to enter the market, promising patients more information about their risk for everything from the likelihood for food intolerance to hereditary cancers. However, not all of the tests along this spectrum belong within employers’ benefit design.

When considering their coverage strategy for genetic testing as a whole, employers should keep in mind that appropriateness of genetic testing may depend on their clinical utility and actionability, as well as testing accuracy. Employers should consult with their health plan, partners and advisors when making coverage decisions. Experts within these organizations will have access to the latest, rapidly evolving evidence as they formulate their recommendations.

In evaluating the recommendations, employers should take into account the following factors:

  • Analytic validity: How accurately a genetic test detects the presence or absence of a particular gene or genetic variant.16
  • Clinical validity: How well an analytically valid test predicts the presence, absence or risk of a specific disease or other outcomes, quantified by sensitivity, specificity and the positive and/or negative predictive value of a specific test.10,16
  • Clinical utility: The degree to which the test can provide information about diagnosis, treatment, management or prevention of a disease. Some screening tests may not yield actionable insights in the form of a direct prognosis but might provide an explanation for an individual’s recurring symptoms. Therefore, clinical utility may mean different things for different stakeholders (e.g., patients, providers, payers and society at large).33
  • Clinical actionability: Under the umbrella of clinical utility, clinical actionability refers to the degree to which providers would change clinical management on the basis of test results.33

Employers may look to their health plans and Lab Benefit Managers (LBMs) to develop genetic testing formularies and clinical coverage guidelines. Such guidelines may be based on publicly available frameworks such as the Centers for Disease Control and Prevention’s (CDC) Office of Public Health Genomics (OPHG) ACCE Process for Evaluating Genetic Tests. ACCE, which takes its name from the four main criteria for evaluating a genetic test (analytic validity, clinical validity, clinical utility and associated ethical, legal and social implications) is a model that includes collecting, evaluating, interpreting, and reporting data about DNA (and related) testing for disorders with a genetic component. ACCE allows policymakers and insurers to have access to up-to-date and reliable information for decision making.34

Potential Risk of Fraud, Waste and Abuse Associated with Genetic Testing

The large number of genetic tests, the complexity related to their coding and prescribing, the increased patient demand, and the ease of administering these tests have led to growing concern over the potential for fraud, waste and abuse. This is largely because genetic testing presents monitoring challenges for payers and purchasers due to:

  • Failure to keep up with the market: The increasing number and constant evolution of tests and panels, along with emerging clinical evidence behind them, require an unprecedented effort in correctly assessing clinical utility, and conversely, spotting waste associated with incorrectly prescribed and utilized tests.
  • Marketing of DTC tests directly to consumers: Advertisements for DTC tests typically target the general public, leading to many overestimating the role of genetics in disease prevention and wellness over nongenetic factors, such as environment, physical activity or diet. Clinicians and health plans may, in turn, feel pressure to prescribe unwarranted genetic tests advertised through various forms of media.
  • Lack of specific billing codes to support claims adjudication12: A total of 221 distinct procedure CPT codes for genetic testing were identified for the year 2018. With the number of available genetic tests currently in the tens of thousands and growing rapidly in volume and complexity, this number of CPT codes is not sufficient to support effective claims adjudication. Furthermore, combinations of codes are being used to bill for test panels, complicating any analysis. Conversely, manipulation of billing codes can include the unbundling of claims, where clinical labs bill for tests separately to maximize reimbursement instead of using an appropriate test panel. Some providers have been reported to bill for services not rendered or performed at all, or ordering large numbers of tests for patients without considering their individual circumstances. In the latter case, tests without proper justification or medical necessity are included in test panels.

There are several indicators employers or their partners can look for in their data that can reveal potential fraud, waste and abuse:16

  • Anomalies with the ordering/referring provider: If the referring provider is not listed as the attending physician for the patient or has no treatment relationship (whether through an in-person office or telehealth visit) with the patient before or after the test is ordered, at best this indicates that the patient has not received any genetic counseling after receiving their test results. In this case, the claim may require further review. Similarly, if the provider is listed in a different state than the patient or has a specialty that is unusual/irrelevant for the type of genetic test ordered, the claim may warrant further investigation. Such red flags may be an indication of a provider kickback scheme.
  • Anomalies within the timeframe and number of services billed: Further investigation is typically necessary in scenarios where the same service was billed by both a third-party lab and a different provider within a short timeframe or when the billing provider has excessively billed with specific claims modifiers.
  • Vulnerable individuals: High concentration of tests within a population vulnerable to fraud, such as elderly individuals.
  • Laboratory abnormalities: Testing performed by laboratories without proper certification or expertise, or testing performed by a laboratory that is different than the billing lab.

Managing Genetic Testing Benefits: What Employers Can Do

  • 1 | Engage with health plans partners to understand their coverage policies: According to the 2020 Business Group on Health’s Quick Survey on Genetic Testing Benefit Offerings, 72% of respondents follow their health plans’ coverage guidelines to determine appropriate levels of coverage for genetic tests.53 Work with health plan partners to ensure that the coverage policies in place adhere to clinical guidelines (e.g., BRCA testing for breast cancer screening)  Any considerations for enhancing coverage for some tests beyond what is recommended by the health partners’ formularies and coverage guidelines should be evaluated by clinical experts familiar with the latest evidence.   
  • 2 | Conduct analyses and/or reporting on current genetic testing claims: Even employers who have not made an active coverage decision with their partners with respect to genetic testing may already be paying for them and can expect the trend to increase. Implementing routine claims reporting can help identify potential areas of opportunity for better utilization management for genetic testing and identify areas of potential abuse/waste. 
  • 3 | Consider genetic tests’ clinical utility when making coverage decisions on DTC testing through wellness programs: With the rapid development in genetic testing science, employers should evaluate DTC testing programs’ value and clinical utility versus the potential of investing in  more targeted testing that can address specific needs of their members. LBMs and other partners can provide insight into clinical utility and the evidence base supporting the coverage of certain tests. 
  • 4 | Pair genetic counseling with genetic tests: Genetic testing, whether single gene or panels, raises questions on clinical appropriateness and the actionability of the resulting information. Gene panel results can be complicated for providers to interpret and may yield results that only show moderate or uncertain risk for disease. These findings may create undue stress for the individual due to the lack of clinical actionability. Engaging genetic counselors before and after genetic testing is essential to determine whether undergoing the panel is truly necessary as well as to assist with interpretation. 
  • 5 | Implement prior authorization for genetic tests: Prior authorizations can serve as a meaningful safeguard to ensure that any tests being ordered are medically necessary.  

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  1. Examples of Screening Genetic Tests and Related Coverage Considerations
  2. DTC Screening Tests: A Unique Set of Considerations
  3. Evaluating the Necessity of Genetic Testing and Related Coverage Decisions
  4. Potential Risk of Fraud, Waste and Abuse Associated with Genetic Testing
  5. Managing Genetic Testing Benefits: What Employers Can Do
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