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UCI MIND and UPENN Colleagues offer new guidance

In a blunt rejection of current norms, two leaders of biomarker disclosure research argue research participants should have the opportunity to know whether they have biomarkers of Alzheimer’s disease . Biomarkers, or biological indicators of a disease, are essential to the study and diagnosis of Alzheimer’s and other diseases that cause dementia.

Clinicians use imaging such as MRI and PET scans to measure biomarkers and make accurate diagnoses. Blood tests are fast becoming available too. The tests also allow researchers to develop targeted drug therapies.

But in both clinical care and research, biomarker results are infrequently disclosed. Insurers typically do not cover these scans in clinical care, limiting their use, and researchers typically do not return results.

Long-time collaborators, UCI MIND Director Joshua Grill,  and Penn Memory Center (PMC) Co-Director Jason Karlawish, argue for change. Their essay was published in JAMA Neurology.

“Cognitively impaired participants in research studies that measure these biomarkers ought to have the opportunity to learn their results and those studies ought to discover who wants this knowledge,” they wrote.   Knowing results can prompt patients to plan for their future and participate in drug studies designed to slow cognitive decline. Biomarker results will also inform a patient’s decision whether to take a safe and effective disease slowing drug.

Research and care are of course distinct activities but Drs. Grill and Karlawish argue knowledge of biomarker results fits within both.

“Returning Alzheimer’s disease biomarker results to persons with mild cognitive impairment (MCI) and dementia is care,” they wrote.

Their argument focuses on returning biomarker results that are “valid, interpretable, and actionable. ” Measures of Alzheimer’s pathology — amyloid, phosphorylated tau, and total tau — should therefore be disclosed, but other markers, as yet, don’t meet this triad. Disclosure should be done only after clinical assessment and the information delivered by a qualified clinician.

“Disclosure is an opportunity for discovery,” Dr. Karlawish emphasized. “Researchers ought to measure who wants to learn and who doesn’t want to know their results.” Dr Grill ticked off a list of topics to study before and after a person chooses whether to learn their results. “This is impactful knowledge – how does it affect lifestyle choices, decisions about the future, perception of memory and well-being,” he explained.

Long-time collaborators on biomarker disclosure, Grill and Karlawish emphasized the notable opportunity to study the patient experience of a biomarker diagnosis.


Read the full publication here >