Investing in a Genetic Counselor Is a Worthwhile Option

By helping with test selection and prior authorization, genetic counselors can help make genetic testing profitable

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Kimberly Scott

Kimberly Scott is a freelance writer specializing in health care and medical diagnostics.

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Published:Aug 25, 2021
|4 min read
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As managed care companies increasingly require prior authorization (PA) before covering reimbursement for genetic testing, some clinical laboratories are finding it worthwhile to invest in a genetic counselor to help navigate the PA process.

While there are vendors that will assist labs with the PA process, labs that do not have an automated PA system or that don’t use an outside billing company or vendor will need to perform the PA process manually by calling the ordering physician to get the necessary documentation to prove medical necessity. This process can be time consuming as physicians are busy and often don’t have the time to supply the medical notes and documentation needed.

Given that the number of genetic tests available has sky rocketed in recent years, getting reimbursed for genetic testing claims can be a significant challenge for clinical laboratories and anatomic pathology groups. The number of total genetic tests has increased from 10,000 in 2012 to more than 166,000 in 2020, according to Concert Genetics, a technology company focused on streamlining genetic testing for health care providers.1

Common tests that require PA include cystic fibrosis, ClariTest, fragile X, SMA, and STD testing (United Healthcare).1 Typically, almost half of PA requests for genetic testing are denied on the first claim submission, according to Heather Agostinelli, vice president, strategic revenue operations, with XIFIN Inc., a revenue cycle management firm based in San Diego.

Managing genetic testing claims

Fed up with constant denials and appeals, some labs are becoming more assertive in managing their genetic testing claims. University Health in San Antonio, for example, hired a laboratory genetic counselor for pathology services in 2019 to ensure that any genetic testing ordered was appropriate and to aid with documentation needed for claims submissions. University Health Laboratory sends out almost all of its genetic testing to reference labs.

“The position came about during our laboratory utilization subcommittee discussions,” explains Stephanie Whitehead, executive director, pathology services. “We noticed that the rate of genetic testing was increasing, and much of it wasn’t necessary. Almost all of our genetic testing claims were being denied. We pulled a year of data to show our administration that not being paid for these tests was equal to someone’s salary. We showed that having a laboratory genetic counselor on staff would pay for itself.”

"Given that the number of genetic tests available has sky rocketed in recent years, getting reimbursed for genetic testing claims can be a significant challenge for clinical laboratories and anatomic pathology groups.”

Megan Maxwell, the laboratory genetic counselor, consults with physicians on test selection and reference lab selection. She helps physicians determine which test is most appropriate and helps them interpret the test results. Much of the work she does is with physicians treating critically ill children in the NICU and PICU. In addition to helping with test selection, Maxwell assists with coding.

“I work behind the scenes to make sure the ICD codes are reimbursable,” she says. “Physicians might use a general code. I help them get more specific. If we receive a denial, I coordinate with the physician to submit additional medical documentation.”

Whitehead notes that in the beginning it took time for some physicians to trust Maxwell. “We were intentional in having her make connections,” she says. “We had her go to grand rounds and meet people. We wanted physicians to know she was there in a supportive role.”

Maxwell’s role also involved encouraging physicians to change the way they think about genetic testing. For example, physicians would often push for expensive genetic testing for inpatient pediatric patients who were decompensating. Maxwell explained to them that they could get a DNA extraction from a blood sample for about $50, and the DNA would keep almost indefinitely.

“I tell them, ‘Draw the blood, we’ll extract the DNA, and then we’ll figure out which test is the correct one,’” says Maxwell. “It gives us time to make the right decision about which is the most appropriate genetic test to order.”

Making genetic testing profitable

The return on investment from hiring a laboratory genetic counselor has been significant, says Whitehead. The lab has gone from having almost none of its genetic testing covered to having about 99 percent covered. Since Maxwell was hired, she has significantly increased the amount of reimbursement University Health receives for the genetic testing it sends out.

“We were six figures under in terms of not getting reimbursed,” explains Maxwell. “We are now in the profitable range. It is easy to make a large dent with genetic testing utilization since many of these tests are so expensive. I saved $15,000 in just one day with one test.”

If Maxwell feels that the test that has been ordered is not clinically indicated and the ordering physician disagrees, she will confer with the director of laboratory utilization, who is a physician. If the director agrees, the director will have a peer-to-peer consult with the ordering physician to stop the test. For inpatient testing, which is mostly pediatric, tests are usually allowed to proceed, although Maxwell is working with physicians retrospectively to change their ordering processes.

“The NICU was ordering a microarray analysis for almost everything,” says Maxwell. “But there are limitations to microarray—it can quantitate but it can’t qualitate. When results come back negative, it reflexed to exome testing, but by this time, you are three months in. My argument to the NICU was, ‘Why don’t we start with exome testing first?’ We have had an awesome diagnostic yield from this change, with diagnosis from an initial test increasing from 15 percent to 40 percent. Exome testing is more expensive, but it’s worth it because it reduces redundant testing.”

While large academic or commercial laboratories often have genetic counselors on staff, it is unusual for smaller or mid-size labs to have such a position. However, Whitehead and Maxwell argue that all labs should consider hiring a genetic counselor as the position will more than pay for itself in savings by not performing potentially medically unnecessary testing that may not be reimbursed.

“It is definitely a position worth investing in,” says Whitehead.


1.    XIFIN. “4 Ways to Maximize Revenue Regarding Genetic Testing,” May 17, 2021.