Beginning with its groundbreaking test for Duchenne muscular dystrophy in 1989, the first commercially available genetic test for this disorder, Athena Diagnostics has led the field of genetic testing for three decades. As the genomic age matures, Athena remains committed to being a leader by bringing the practice of “responsible genomics” to the testing field.
“We believe responsible genomics means doing the right test at the right time for the right patient,” explains Joseph Higgins, MD, Medical Director. “Responsible genomics also means a commitment to bending the cost curve to keep testing affordable. It means bringing all our expertise to bear in interpreting results, and then providing the physician with a clear, concise, and clinically actionable report. The testing process is backed up by a staff of trained genetic counselors who can answer questions both before and after a test is done. The interpretation of the laboratory test reflects the accumulation of 25 years of experience and knowledge that helps clinicians meet the challenges of the future, and help move the science forward.”
Responsible Genomics: Doing the right test at the right time on the right patient
Genomic knowledge has advanced so rapidly that many physicians struggle to keep up. “As a result,” says Genetic Counselor Susan Hahn, “they either order nothing, because they are overwhelmed by the choices, or they order everything on the menu. Neither approach is responsible genomics.”
Athena’s approach is to offer test panels with the greatest likelihood of providing a genetic diagnosis, panels that have been developed through years of experience and constant analysis of the scientific literature. “We provide evidence-based testing guided by peer-reviewed publications to guide what we do,” Dr. Higgins says.
Recently, under Dr. Higgins’ guidance, Athena has gone further, producing testing algorithms that physicians can use to make their own informed decisions. “The physician can work through the algorithm in the same way our genetic counselors would, to narrow the choices to the tests most likely to be useful.” That often includes clinical tests, such as neuroimaging, physiological tests, and routine labs, that can provide relevant information before the genetic test is ordered. “We don’t want the physician to order everything—it’s not informative to the physician, and difficult to interpret the result in a clinical context. Besides, it’s not cost-effective for the patient.”
Responsible Genomics: Keeping costs under control
Major advances in sequencing technology have also lowered costs, and Athena’s pricing has changed to reflect that. “We’ve lowered our prices even as we’ve upgraded our testing menu with next-generation sequencing, molecular combing, and other innovative genetic technologies,” says Joseph Sterk, Product Director. “We are committed to remaining a leader in genetics by providing innovative testing at a competitive price.” Not only have costs come down, but Athena has a strong financial assistance program in place, the Athena Alliance Program, which can cover part or all of the cost of testing for over 85% of US patients.
“We also have control mechanisms in place to detect duplicate orders,” points out Khalida Liaquat, Genetic Counselor. “When we detect an order for a test that the patient has already had, we call the physician. We don’t just let the test go through.”
Responsible Genomics: Bringing expertise to bear in interpreting results, and providing clear, concise, and clinically actionable reports
Results from a test have to be interpreted by experts to make them clinically relevant. Tests often reveal variants of unknown significance, which must be analyzed and compared to previous findings of the same or similar variants. That’s the focus of the Athena Insight program, in which genetic experts draw on the unparalleled resources of Athena’s database to make a determination of the likelihood that a specific variant is pathogenic.
“When we see a variant, we query a well-curated DNA variant database and use a rules-based, weighted system to assign a pathogenicity score to back up our interpretation,” says Dr. Edward Ginns, Medical Director for Medical Affairs, “This database is the culmination of years of talking with physicians and collecting this vital information on literally thousands of cases. It’s not finding the variant itself, it’s the expertise behind the interpretation by experienced scientists and board-certified geneticists that makes the difference.”
Once a determination has been made, the Insight team prepares a simple, authoritative report the physician can use to understand the clinical significance of the findings, and to counsel the patient.
Responsible Genomics: Promoting scientific progress
At the same time, Athena is using the high-quality data in its database to advance the understanding and treatment of disease. Drawing on its 17,000 cases of Charcot-Marie-Tooth disease (CMT), Athena developed and published a testing algorithm that is now recognized as the preferred way to test patients for suspected CMT. Researchers at Hershey Medical Center in Pennsylvania are currently using Athena data to develop a practice parameter for limb girdle muscular dystrophy, one of the most heterogeneous of the muscular dystrophies. Efforts are also underway to develop practice parameters in testing for dementia, in collaboration with researchers at the University of California at San Francisco (UCSF).
Responsible Genomics: Providing a staff of trained genetic counselors
“A big part of being responsible is being responsive,” says Carol Hoffman, Genetic Counselor. “Test results can have major impacts for the patient on treatment or family planning. It’s not enough to deliver a report. We need to be available to the physician to provide them the information they need to counsel the patient.”
To respond to that need, Athena has increased its genetic counseling staff over the past five years. “We have a critical mass of clinical experience in neurogenetics to meet the needs of our clients,” says Steve Keiles, Director, Head of Genetic Counselor Organization, Medical Affairs, “and the genetic counselors are indispensable. But we will need more genetic counselors going forward, because as the genomics age matures, it is going to become more complex, not less.”
Responsible Genomics: Using knowledge to help clinicians meet the challenges of the future
One source of new complexity will be the arrival of whole genome sequencing, determining the DNA sequence of every base in the genome. “The potential of whole genome sequencing is vast, but so is the complexity,” Dr. Higgins points out. “We’ll have access to the information and be able to assess non-coding and regulatory regions, as well as epigenetic factors that, right now, no one understands the clinical significance. Multidisciplinary approaches are going to be even more important in the future than it is now. Quest Diagnostics and Athena will provide that experience”
While most genetic tests are currently ordered by specialists, primary care physicians and pediatricians are soon likely to be more and more involved. Both groups are benefitting from the expertise of Athena’s Susan Hahn, a genetic counselor who spends most of her week in the field, working with physicians who are seeking a better understanding of the genetic testing landscape, in order to help their patients. “It is practice-based learning,” she says. “We pull some charts and review cases. I am the bridge between them and the testing laboratory, to make sure they are practicing responsible genomics as well.”
“My goal on joining Athena almost four years ago was to be an agent of change,” Dr. Higgins says. “It is happening. We’ve still got more to do, but it is happening.”