With new genetic tests introduced to the market every day, it is challenging for providers without genetics training to monitor and evaluate the usefulness of these tests in various clinical scenarios. One study found that 54% of 1,404 family physicians surveyed did not feel knowledgeable about genetic testing that was clinically available1. Another study found that among 220 internists surveyed, approximately 74% rated their understanding of genetics as “poor.” Despite reporting a low understanding of genetic testing and their guidelines, 44% of these internists reported that they still ordered genetic testing2.

Though pre-test genetic counseling is best practice and an ideal way to ensure safety and efficacy of genetic testing, not all providers are aware of how readily they can access genetic counselors who are master’s-level, board-certified genetic specialists. Here at InformedDNA, we provide in-network telegenetic counseling services to many tens of millions of individuals in the U.S. with commercial health insurance. This convenient service increases access and supports providers in delivering genetic services to their patients — helping to facilitate precision care. But even when pre-test genetic counseling is not pursued by a patient or provider, we’re there to support them through expert opinion reviews of genetic test authorization requests by our genetic analysts. These experts are board-certified genetic counselors who have an average of 14 years’ clinical experience and have received additional training in evidence, policy, and case review.

Helping health plans and providers ensure that patients have access to the most appropriate care in genetic testing

In our work reviewing prior authorization requests for genetic testing on behalf of health plan clients, we have the unique opportunity to identify requests that are not clinically appropriate and intervene to avoid testing that may be unnecessary or result in treatment that may be harmful for the patient. Our genetic analysts understand the nuances of genetic testing and are committed to supporting providers and ensuring the right tests are ordered.

Below are just four of the benefits realized when leveraging genetic analyst expertise in genetic test prior authorization requests, as demonstrated by real-life examples.

1. Help in choosing the right test

Healthcare professional swabbing patient for genetic test

Example: A patient was being evaluated for Marfan syndrome, which affects the connective tissue in the body and can have significant implications for cardiac screening and even surgery. In our review of one prior authorization request, we found that although the provider ordered testing for the correct gene for Marfan syndrome (FBN1), an inappropriate method for analysis was requested. Instead of sequencing (which analyzes the sequence of DNA letters of the gene), the provider ordered a deletion and duplication analysis (checking for extra or missing copies or pieces of the gene). Approximately 90% of the disease-causing changes in FBN1 would not have been detected by deletion and duplication analysis. One of our genetic analysts reached out to the ordering provider, facilitated a clinical conversation regarding the best course of testing, and was able to modify the prior authorization request to reflect the most appropriate and useful testing for this condition (FBN1 sequencing).

2. Interpreting lab reports

Example: In one request for a genetic test evaluating the hereditary causes of pancreatitis, a letter of medical necessity was included stating that molecular studies “showed no mutations” and that another type of testing was indicated. However, the genetic analyst noted that DNA quality was poor and amplification failed, meaning no molecular analysis had been done. In this case, the provider had incorrectly believed that the testing was negative. Repeat testing on a new sample was the right next step in the care of the patient.

3. Interpreting results of prior testing

Example: A six-month old baby was being evaluated for spinal muscular atrophy. Clinical records included results showing zero copies of SMN1. The requested test for prior authorization was a panel of 16 genes associated with phenotypes or conditions similar to spinal muscular atrophy. In this case, the right diagnosis had already been made and additional testing was not necessary.

4. Avoiding unnecessary testing

Example: A prior authorization request was received for a very broad reproductive carrier screening including evaluation of carrier status for more than 100 conditions. The patient was a 66-year-old female. There was no personal or family history warranting reproductive genetic testing in the patient and testing would have no bearing on her medical care.

Because healthcare is always evolving, providers need support to use the available test platforms in the most precise manner. In the broad effort to offer the best care for patients, there is ample opportunity for collaboration and access to expertise. Our genetic counselors are here to support patients, providers, and health plans in ordering appropriate and safe genetic testing. Even though pre-test genetic counseling is still the best practice in serving genetic testing patients, access to genetics expertise throughout the test authorization and claims processes also benefits all stakeholders.

At InformedDNA, we leverage the expertise of the largest, most experienced, full-time staff of lab-independent, board-certified genetics specialists in the U.S. to help ensure that patients, health plans, health systems, hospitals, pharmaceutical companies and healthcare providers have access to the highest quality genetics services. To learn more about our services, just submit the short form below and we’ll get back with you right away. Or, give us a call at 844-846-3763.

1: Mainous et al., 2013
2: Klitzman et al., 2011


Stay Informed.

Sign up to receive periodic news, resources, and updates.

Solverwp- WordPress Theme and Plugin