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Quest Aims to Improve Care of Dementia Patients in Program Integrating Digital Tools, Genetic Tests

NEW YORK (GenomeWeb) – An integrated diagnostic approach that incorporates clinical, imaging, and laboratory data — including information from genetic and molecular diagnostic tests and a digital cognitive assessment tool — may help physicians more efficiently screen for cognitive dysfunction and neurodegenerative disorders such as dementia, according to a consensus view from a multidisciplinary panel of experts.

The consensus statement was developed by academic and industry collaborators including medical experts from Quest Diagnostics and its Athena Diagnostics business, which provides genetic testing services for dementia. The group has produced a paper outlining the results of its work that it plans to have published later this year.

The work reflects a broader initiative by Quest Diagnostics to position itself as a provider of laboratory test services that reduce costs in the healthcare system, provide enhanced services to physicians, and improve the general quality of care for patients.

"When Stephen Rusckowski took over as CEO of Quest in 2012, the company recast its strategy and reorganized significantly around disease areas with the notion that we do a lot more than provide lab test results," Jay Wohlgemuth, senior vice president and chief medical officer of Quest Diagnostics, told GenomeWeb. "We're in a really good position to provide more integrated solutions around clinical problems, and we began a whole journey around that."

Reflecting that strategy, Quest earlier this month introduced a digital cognitive assessment tool, CogniSense, designed to overcome limitations of conventional paper-based cognitive assessment and to provide information that is easily trackable over time and can be integrated with electronic health records.

CogniSense is designed to provide healthcare practitioners with a digitized version of the paper-based Memory Orientation Assessment Test to assess the cognitive health of a patient's brain through the use of memory recall techniques, information comprehension tests, and tablet-based clock drawing that provides assessment of patient's memory, orientation, sequential memory, and time.

"It's important to note that it is not a diagnostic tool, but it is an assessment tool that adds to the clinician's or health technician's testing capabilities," Edward Ginns, medical director of neurology at Quest Diagnostics, told GenomeWeb. "It can be used as part of a diagnosis along with family history, physical examinations, neurological exams, and molecular and genetic tests that are used for cognitive dysfunction evaluation and more specifically for diseases such as Alzheimer's."

People with neurodegenerative disease in the US rely mainly on primary care physicians to provide care and diagnostic services. Many patients with mild cognitive impairment are not identified because of knowledge gaps among primary care physicians, and there are a variety of approaches to treatment, Wohlgemuth said.

The tiered diagnostic approach is designed to address these kinds of gaps and unmet needs.

"We are putting in place all of the different components of the care pathway that are recommended by the experts," Wohlgemuth said. "We have cognitive testing on the iPad, which obviously has a lot of benefits; we've got genetic testing in place through Athena for autoimmune dementia and the treatable causes of dementia, for example; and we have begun to work with the radiology providers to verify that they have the technical and professional protocol around magnetic resonance imaging for dementia workup.

"The consensus guideline which is being submitted now for peer-review publication is also a detailed clinical algorithm around putting all of this together and describing exactly what a primary care physician should do while creating a workup for memory loss and dementia."

CogniSense is a part of the overall pathway and fits within the clinical algorithm, he said, because the primary care physician needs to be able to do a valid cognitive assessment and then build on that assessment and integrate it with electronic medical records.  

The guideline also provides decision support about when it's appropriate to have genetic testing done, for example, for familial Alzheimer's disease, Wohlgemuth added. "It should only be done in certain cases where there's an early onset, for example, and where the patient meets certain criteria. And you may find that it's useful in some patients, but not in others."

Since the appointment of Rusckowski as CEO, Quest has been working on an approach that Wohlgemuth calls an integrated care pathway. The company began by identifying specific disease areas and then integrating lab testing and healthcare information technology components with expertise from an extensive network of physicians. Quest created an integrated cardiovascular risk assessment, for example, that included advanced biomarkers and integration of clinical data to provide an assessment of risk for a heart attack. Quest already had available a genetic testing and advanced biomarker business through its acquisition in 2011 of Athena Diagnostics, Wohlgemuth said, and to fill out the offering the company interfaces with a large number of primary care physicians, including Ob/Gyns and primary care physicians.

At the same time, two or three years ago Quest executives realized that there was a lack of clear guidelines and decision support for primary care physicians to do a workup for patients in cognitive decline, Wohlgemuth added, and they decided that the company was ideally placed to provide tools that would lead to significant benefits.

Further reflecting Quest’s strategy to provide laboratory services for patients with dementia and related conditions, the firm completed an acquisition in February this year of the outreach laboratory service business of Clinical Laboratory Partners, a wholly-owned subsidiary of Hartford HealthCare, which is an integrated healthcare system with five hospitals in Connecticut.

As a result of the acquisition, physicians in Connecticut will have broader access to laboratory services, according to Quest, and be able to order testing and consult with the firm’s medical experts at its clinical laboratory in Marlborough, Massachusetts, which provides testing services, such as next-generation sequencing and bioinformatics, to aid in the detection of cancer, dementia, and other diseases.

The company's Athena Diagnostics division provides genetic tests that aid in the detection of several rare neurological disorders, including hereditary neuropathy, neuromuscular disease, epilepsy, and certain movement disorders. The tests streamline the diagnostic process by using gene sequencing and bioinformatics to evaluate many clinically relevant genes with a single blood draw. Test reports provide information to assist clinicians and genetic counselors in confirming a diagnosis, developing a targeted treatment plan, and managing patient care.

The firm’s services include expanded testing for Charcot-Marie-Tooth disease, a hereditary motor sensory neuropathy for which early, accurate diagnosis is critical to ensure patients avoid contra-indicated medications that can worsen symptoms. They also include DNA sequencing tests for myofibrillar myopathy, a debilitating disease that can lead to cardiac and respiratory complications, but is often confused with CMT and other conditions.

In addition, the company is offering new tests for hereditary sensory and autonomic neuropathy, hereditary neuralgic amyotrophy, hypokalemic periodic paralysis, limb girdle muscular dystrophy, benign familial infantile epilepsy, and familial paroxysmal kinesigenic dyskinesia.

"More than 5.4 million Americans have dementia such as Alzheimer's disease, and this number is projected to almost triple by 2050," Joseph Higgins, medical director of neurology at Quest Diagnostics, and laboratory director of Athena Diagnostics, said in a statement ealier this year. "Despite numerous medical and scientific innovations to aid diagnosis, we lack a standardized pathway to help clinicians, particularly in primary care, to evaluate and diagnose these diseases. A consensus-based approach integrates best practices in clinical management with the most advanced diagnostic technology and genomic science with the goal to simplify and improve care quality."

Quest has been working with an Accountable Care Organization in the North East that has implemented CogniSense in its patient population. "They have shown a doubling in their detection rate of cognitive decline in their population," Wohlgemuth said, "That is some of the value that comes out of this work just from the CogniSense piece."

Cognisense is available as an app for the Apple iPad, and is administered and scored electronically by a physician, providing an objective baseline score and progressive scores that can be stored in Care360, Quest's lab-ordering platform, and any of nearly 600 electronic health records that connect to Quest, enabling clinicians to track and monitor cognitive function of the patient over time.