What are the main difficulties in diagnosing neurological disorders?
Neurological disorders with genetic causes can be very difficult to diagnose without reliable, clinically relevant tests tailored to specific phenotypes.
Neurological disorders that are rare – affecting about 200,000 or fewer people -- are even more difficult to diagnose because symptoms often overlap and clinicians may have limited experience with diagnoses due to their rarity (http://history.nih.gov/research/downloads/PL107-280.pdf).
The irony is that on an absolute basis, rare disorders aren’t that rare: there are about 6,000 of them, ranging from Lou Gehrig’s disease to Duchenne muscular dystrophy.
Every week, neurologists call me for help selecting a test service because they are baffled by a patient’s symptoms and which disorder they indicate.
As stressful as that is for the neurologist, imagine how much worse it is for the patient and her or his family members when the condition eludes a clear diagnosis.
I’m passionate about diagnostics for neurological and rare disorders because laboratory testing that can precisely pinpoint the gene responsible for a disease or disorder is critical to a timely, accurate diagnosis and patient management. That diagnosis can reduce a lot of suffering and help people access treatments that may help.
How have diagnostics for neurological disorders evolved over recent years?
It’s a very exciting time to be in neurological diagnostics. We have more tools at our disposal than ever before, thanks to advances in high-resolution imaging and clinical diagnostics based on a better understanding of the human genome.
All of these advances help us to accurately pinpoint disease and predict treatment response at any earlier state than ever before.
The challenge for diagnosticians and physicians is how best to identify and utilize the genetic information. All of our advances aren’t helpful unless the information gleaned is clinically relevant to the patient’s condition.
Athena Diagnostics works with researchers from academic institutions to identify and catalogue this information based on our clinical testing, which improves our ability to provide interpretive test reporting for the individual patient.
And it helps academia contribute to scientific knowledge, which in turn can spur advances in new drug research and development.
In the coming decades, through genomics-based health care, we will have an even greater understanding of the molecular foundation of many diseases.
With these insights, we will not only be better able to treat many conditions – we’ll be able to take actions to predict and thereby prevent them for some patients.
Please can you outline the main barriers to diagnostic testing?
Unfortunately, despite all our advances in neurological testing, barriers still exist that limit our ability to capitalize on what we’re learning to improve patient care.
With our growing knowledge, we’re able to test for more conditions than ever before, but the volume for many of these tests is low because a relatively small number of people are affected.
In addition, the tests themselves are technologically demanding and often require deep expertise to interpret. As a result, the costs associated with these tests are higher than for more routine tests, which in turn means the prices need to be higher, too.
Another issue is that while providers are getting more inquiries from patients about the value of molecular tests, evidence-based information about clinical validity and patient outcomes is sometimes lacking simply because it is a challenge to perform quality studies based on the low number of patients tested.
This lack of information can be a problem for health plans that need to determine how much to reimburse for clinical testing services. For some patients, the end result is that their health plan won’t cover a test service
Imagine the patient that has traversed the medical system for years without ever getting a reliable diagnosis because without testing, their medical providers don’t know what is wrong.
In fact, research has shown that it can take five years or longer to get an accurate diagnosis for rare disease. Then, their doctor tells them there is a new test that could help reveal the cause of their disorder once and for all. The test may even tell them if family members are also at risk.
But their health plan won’t cover the service and they lack the financial resources to pay out of pocket. That’s an excruciating situation for the clinician and the patient.
What needs to be done to increase the accessibility of neurological testing?
We need to clearly demonstrate the value of these diagnostics -- how such testing improves health outcomes and reduces health care costs – so they will be appropriately valued by risk-bearing organizations, such as health plans and accountable care organizations.
That’s why Athena Diagnostics and its parent company Quest Diagnostics place a premium on diagnostic information services that are based on credible science and medical guidelines: we are committed to responsible testing and only develop services for which there is compelling evidence of clinical value.
But demonstrating value is only part of the problem. We’ve learned that when information does become available, it takes an average of 17 years before new medical knowledge has been implemented by half of practitioners. So more needs to be done to encourage physicians to adopt guideline- and evidence-based test services more quickly.
Health economists, payers, diagnostic laboratories, researchers, and physicians all need to collaborate on establishing pathways that integrate diagnostic testing and focus on patient outcomes.
How can neurological testing be made more affordable for patients?
Again, it comes down to the fact that the cost of these diagnostics is influenced by the uncommon nature of most neurological disorders and the personalized nature of neurological testing.
Even though breakthrough technologies have reduced costs over the last decade, the low volume and customized nature of neurological testing means that costs will still remain higher than for routine tests, like A1Cs for diabetes or cholesterol panels for heart disease.
Additionally, the interpretation of complex molecular neurogenetic testing will remain a formidable cost factor because of the expertise needed to research and curate genetic information.
Please can you outline the Athena Alliance Program?
In recent years, particularly as more patients get insurance through high deductible plans, we’ve become concerned that some patients are not able to access the highly advanced services we provide.
Even more than that, we realize that navigating the testing process, which can include conferring with a genetic counselor and trying to understand reimbursement, can be emotionally challenging for people as they grapple with difficult health problems.
For this reason we recently introduced the Athena Alliance Program to help improve the patient experience. The program features a patient concierge service, which matches patients requiring our diagnostic testing services with an individual specialist.
This specialist helps the patient through all stages of the process, from the time of test ordering through their physician to the receipt of test results, and even through the appeals process.
The program is available to anyone, including people with insurance, and helps cover the fees of testing in those cases where the patient is personally responsible when the fee for a testing service exceeds $250.
What are Athena Diagnostics’ plans for the future?
Athena Diagnostics is part of the Quest Diagnostics Neurology business, which is focused on innovations in neurogenetic diseases that involve the brain, spinal cord, peripheral nerves, neuromuscular junction, and muscle.
One of our most exciting focus areas is dementia, including Alzheimer’s disease, which affects more than five million Americans.
Through our collaboration with the University of California San Francisco (UCSF), we are spearheading efforts to help clinicians manage patients based on clinical laboratory and imaging tests.
In fact, this project was showcased in November 2014 at the Partnering for Cures conference in New York City after being selected above several other applicants.
We are proud of the diagnostic innovations we provide to physicians and patients because they help create a healthier world.
Where can readers find more information?
Please visit our website at questdiagnostics.com. For information on the Athena Alliance Program, please visit http://www.athenadiagnostics.com/
About Dr. Joseph Higgins
Joseph J. Higgins, M.D., F.A.A.N. is medical director of neurology for Athena Diagnostics, a business of Quest Diagnostics. In this role, he oversees neurology and rare disorder testing for the Quest Diagnostics Neurology business, which includes Athena Diagnostics.
Before joining Athena Diagnostics in February 2012, Dr. Higgins most recently was Professor of Pediatrics and Pediatric Neurology and directed the Weill Cornell Autism Research Program at Weill Cornell Medical College, and was the Principal Investigator of Weill Cornell Autism Research Program.
Prior to that, he served as an Associate Professor in the Department of Biomedical Sciences at SUNY Albany, and as the Laboratory Director of the Clinical Neurogenetics Laboratory at the Wadsworth Center.
He also held a faculty position as a Clinical Associate Professor at Albany Medical College where he evaluated neurogenetic patients at the Center for the Disabled. Before that position, Dr. Higgins served as a Senior Staff Physician with the National Institute of Neurological Disorders and Stroke (NINDS).
Dr. Higgins is U.S. Board Certified in Pediatrics, Psychiatry and Neurology, and Neurology with Special Qualifications in Child Neurology.Dr. Higgins earned his bachelor’s degree in biology from Marist College and finished his medical degree at New York University.
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