Benefits Investigation Is Growing Issue for Genetic Testing Labs

Patients with high-deductible health plans want to investigate cost of test before proceding

QUIETLY AND WITH LITTLE NEWS COVERAGE, a new complication is challenging clinical laboratories that offer genetic testing. It involves a steady growth in the number of patients who do a “benefits investigation” before allowing their physician to order a genetic test. 

Benefits investigation is the “term of art” that describes a patient (or provider) who wants a cost estimate before an expensive genetic test is ordered. 

This trend is directly associated with consumers who have high-deductible health plans (HDHPs). They want to know how much they will have to pay for a genetic test before that test is ordered and performed. Many labs and lab billing companies report that benefits investigation is becoming a major and time-consuming activity. 

Benefits Estimator Tool

Unless a clinical laboratory has a benefits estimator tool, the clinical laboratory or the patient will have to contact the patient’s healthcare benefit plan to find out what their plan covers. 

“One pain point associated with the need to do a benefits investigation is when the patient tries to decide if they want the test, but they wait a week to get the benefits investigation done,” explained Heather Agostinelli, Vice President for strategic revenue operations, with XIFIN Inc., a revenue cycle management firm based in San Diego. “At that point, the sample may have already been sent to the lab and processed.”

Agostinelli was speaking during a recent Dark Daily webinar, titled, “State of the Genetic Testing Marketplace–Getting Paid for All Your Lab’s Genetic Test Claims: What’s Changing, What’s Not, and What’s Working Best.” 

Genetic Test Criteria

“Benefits investigation requests are typically made by the ordering physician, although they may be made by the patient, as well,” Agostinelli continued. “A benefits investigation involves the clinical laboratory contacting the patient’s healthcare insurance company to find out if the test is a covered benefit, and if so, whether the patient meets the inclusion criteria for the test. The lab may also need to determine how much of the patient’s deductible has been met and the amount of their co-pay or coinsurance.

“Once the clinical laboratory has this information, it will need to contact the ordering physician and/or the patient to determine whether to proceed with the test,” she added.

All this takes time. In some cases, the specimen is collected before the benefits investigation is complete. In other cases, it is not collected until after the patient and ordering physician have given the go-ahead.

GeneDx, a wholly-owned subsidiary of BioReference Laboratories Inc., an OPKO Health company, automatically orders a benefit investigation for every test it performs, says Gina Wesley, Vice President, Payer Relations Operations for BioReference. The investigation is conducted by XIFIN, the lab’s revenue cycle management firm. 

If the cost to the patient will be more than $100, GeneDx will contact the patient before proceeding with the test. Prior to hiring XIFIN as its billing company, GeneDx did its own benefit investigations, which was often time consuming, Wesley noted.

Automated Tool on Website

BioReference Laboratories has an automated tool on its website that providers and patients can use to estimate the patient’s financial responsibility. The automated tool is also available at BioReference’s patient service centers. The online estimator, while helpful, does not always alleviate the need for further investigation into the patient’s financial responsibility.

“Another pain point is that this is an estimate at a particular point in time,” Wesley said. “It can change based on where the patient is in terms of their deductible or changes to their plan. The price can fluctuate. Also, the estimate does not guarantee that the test will actually be covered by the insurer.”

One of the trickiest areas of benefits investigation is getting estimates for testing through the Blue Cross Blue Shield Blue Card program (BlueCard), which allows members of one BCBS plan to receive care while traveling or living in another plan area. Often this means that an estimate might be done under one plan, while the benefit is actually processed under another plan.

“We’ll receive a quote and then it goes through the process of adjudication and comes back substantially different than what we were quoted,” Wesley said. “The BlueCard out-of-state program can be difficult for patients when obtaining accurate benefits investigations.”

Jessie Conta, a genetic counselor and manager of the laboratory stewardship program at Seattle Children’s Hospital, conducts benefits investigations on behalf of the hospital. When genetic testing is performed, the laboratory bills the hospital, which then will collect the patient’s share of the cost when appropriate.

“Sometimes you can get an immediate answer from insurers,” she noted. “Many health insurers have portals that support benefits investigation, including preauthorization requirements. Ideally, the portal would also provide information about the patient’s co-pay and deductible, but often the patient has to contact the insurer directly to get that information.”

Improving Lab Test Utilization

The benefits investigation can be an opportunity to help guide providers in selecting the most appropriate test for the circumstance, Conta adds. “The first thing you have to ask is, is this test the right one for the patient,” she says. “Your lab needs to have systems in place to help providers select the right genetic test. It’s a commitment to stewardship.”

Contact Heather Agostinelli at 843-364-5127 or; Jessie Conta at 206-987-3353 or; Hillary Titus at 201-406-9968 or

GeneDx Has FAQs for Benefits Investigation

GENEDx, A GENETIC TESTING LAB OWNED BY BIOREFERENCES LABORATORIES INC., uses FAQs (frequently-asked-questions) on its website to educate providers and patients on how to conduct a benefits investigation. The FAQs can be accessed at this URL: 

GeneDx writes that “requesting a benefits investigation (BI) in the GeneDx Healthcare Provider Portal is fast and easy. The majority of benefits investigations generate an immediate patient out-of-pocket (OOP) estimate, while the remainder will usually be returned in 3-5 business days.”



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