The availability of genetic information has enabled healthcare providers to better diagnose and treat disease.

In line with the national trend toward the increased use of genomic testing, PCL Alverno, a laboratory services company owned by Franciscan Alliance, is in the process of purchasing its first genome sequencer.

“Years ago, nobody could sequence a genome for under $1 million,” says Sam Terese, CEO and president of Hammond, Indiana-based PCL Alverno. “Now, we can do it for a few hundred dollars. The technology is much simpler than five years ago, and assay costs have decreased significantly.”

Genomic testing can reveal genetic mutations that may offer clues about a patient’s diagnosis or how they will respond to treatment. Databases connected to genetic test results can help direct patients and physicians to therapeutic clinical trials that may be a good fit for a certain patient’s genetic makeup.

“At a very basic level, genetic testing for oncology increases the understanding of a person’s cancer, enabling it to be more effectively managed and treated,” Terese says. “Traditionally, we studied cancer at a histologic level with the dissection of a tumor and then at a cellular level. Now we will be able to do it at a level of an individual’s DNA or the DNA of a tumor.”


Need for Expertise

In addition to having access to the technology, hospitals and labs need pathologists who can read and interpret the results. “Sequencing is not just about identifying the genes; interpretation needs to be clinically relevant,” Terese explains. “While technology has advanced, expertise is still not widely available.”

The results of genomic tests look quite different from that of other often-used tests. For example, if a lab purchased a new general chemistry analyzer, “most healthcare professionals would have a clear understanding of the menu of testing,” according to Terese. “That’s not the case with genomic testing. You have to involve your oncologists, understand the patient population you’re serving, and determine if there’s going to be enough testing volume to support the cost of the program, including the technology and the development of the expertise.”

Because launching a genetic testing program is more complex than many traditional laboratory assays, facility personnel and clinicians need further education to make sure they’re using the right tests at the right time. Terese estimates that implementation and training will take about nine months. Fortunately, manufacturers are providing additional support, he says.

PCL Alverno’s genome sequencer will initially focus on a 50-gene panel that is relatively well understood and widely recognized to have a clinically relevant role in oncology. The software will match each patient to a protocol based on identification of their actionable genes.

“The sequencer and software will help better characterize a patient’s cancer and recommend treatment or trials that may be a match,” Terese says. “There is an element of cost savings to keeping the patient in our system; we can send out fewer tests to reference labs, which also cuts turnaround time for results.”

Eventually, PCL Alverno expects to utilize in-house genetic testing beyond oncology. Plans include using pharmacogenetics to determine how patients metabolize drugs—another step in a quest to help the Franciscan Alliance facilities it serves make more personalized treatment decisions.


Best Use Considerations

At Wellspan Health, a six-hospital system based in Central Pennsylvania, genetic testing is outsourced for a number of purposes, including cancer diagnostics and treatment, neurology, endocrinology, maternal-fetal medicine and cardiovascular health, says Stephen Manzella, Ph.D., clinical director of WellSpan Laboratory Services.

Challenges—and a learning curve—exist with outsourcing as well. “The problem is not doing the testing; it’s interpreting the data,” Manzella says. “You have to determine whether a genetic mutation is clinically relevant or not, and you must have a really large database of human genomes to be able to do that.”

As increasing numbers of patients’ genomes are sequenced, others will benefit from the larger database of genetic information available for comparison. For that reason, precision medicine—or medicine that seeks to predict which treatment and prevention strategies for a particular disease will work in which groups of people—can become increasingly exact as more hospitals and labs take advantage of genetic testing.

However, though costs for genetic tests have lowered, they still remain more expensive than other more standard and less-involved tests and aren’t necessary in many situations.

To combat the overuse of unnecessary genetic testing, WellSpan instituted utilization committees to help physicians make informed decisions about whether a specific patient’s case warrants a genetic test. After genetic counselors began consulting with physicians, the number of tests ordered was greatly reduced, Manzella says.

“Genetic counselors know more about the testing and can help a provider make a decision about whether the test makes sense for a particular patient,” Manzella says. “For instance, that patient may have a family history of a genetic disorder, or the disease may look like it possibly has a genetic cause.”

WellSpan Health has three genetic counselors devoted to maternal-fetal medicine, two devoted to oncology, and Manzella expects to add more in the near future. In addition to advising physicians on when genetic testing is appropriate, genetic counselors can also provide the reporting and justification that insurance companies require to cover such tests.

While genetic testing is more accessible and affordable than ever before, it’s still a process to determine how it can best be used with treatment, Manzella says. “As precision medicine matures, we will have even more evidence to show payers.”


The Precision Medicine Initiative, a long-term project from the National Institutes of Health and other research centers, aims to understand how a person’s genetics, environment and lifestyle can help determine the best approach to prevent or treat disease. Learn more Here.

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