Panel Examines Deeper Implications of Alzheimer’s Blood Test

Posted in GUMC Stories

JUNE 5, 2014—Alzheimer’s disease is among the most feared diagnoses in the U.S. With no available treatment, the sense of despair and hopelessness that can accompany a diagnosis can quickly overwhelm a patient and his or her loved ones.

What if there were a way to know in advance you are likely to receive such a diagnosis? Would you want that information if there is no treatment?

These are some of the questions raised during a May 30 panel discussion at Georgetown University, held during the university’s alumni weekend.

The discussion, called “Saving Memories: The Fight Against Alzheimer’s and Dementia,” follows a recent major breakthrough at Georgetown University Medical Center (GUMC) that discovered and validated a blood test that can predict the onset of the disease before there are clinical symptoms and signs.

The finding, published in March in Nature Medicine , determined with 90 percent accuracy if a healthy person between 70 and 80 years old will develop mild cognitive impairment or Alzheimer’s within three years. According to Howard J. Federoff, MD, PhD , GUMC’s executive vice president for health sciences and the lead investigator on the study, the key to finding treatment options lies in diagnosing the disease very early—before signs are present.

“All of the modification efforts in testing new drugs have failed … because they were tested at the time a patient already had a diagnosis,” Federoff said at the panel discussion. “There is a great need to identify individuals who are clinically silent, but yet already have taken a step towards the development of Alzheimer’s. That is what motivated this work.”

Federoff was joined on the panel by G. Kevin Donovan, MD , director of GUMC’s Pellegrino Center for Clinical Bioethics; Massimo Fiandaca, MD, MBA, FACS , co-director of GUMC’s biomarker laboratory and associate professor of neurology and neuroscience; and Susan Kudla Finn (C’74), president and CEO of the Alzheimer’s Association National Capital Area Chapter .

Todd Bentsen, associate vice president for communications at GUMC, served as moderator of the discussion, which drew nearly 70 attendees of all age groups.

Predicting the Disease

In the study, investigators from GUMC and collaborating institutions looked at metabolites in patients’ blood and discovered 10 lipids, or fats, that were lower in those patients who would go on to develop cognitive impairment. They then were able to use that same 10-lipid panel to predict, with greater than 90 percent accuracy, which cognitively normal patients in a second group would go on to develop clinical disease.

Once the findings are more broadly confirmed and replicated by other research groups around the world, the next pivotal step will be to launch a clinical trial, enrolling patients who are determined to be at risk for the disease using such a blood test. These selected patients will then be treated with a drug, possibly one already approved by the U.S. Food and Drug Administration that has been shown to be neuroprotective, to see if it can delay or prevent the clinical onset of the disease.

Federoff cautioned that the proposed blood test must undergo additional rigorous testing—and be able to be transferred to a clinical lab setting—before it can be made widely available to the public.

Fiandaca added that beyond looking at these lipids, the researchers are also assessing the genetic information in white blood cells and analyzing other blood components to see if there are meaningful differences between the people in the study group who develop the disease and those who do not.

“We’ll see if any of these other areas that we can easily sample give us additional informative signals,” he said.

‘Knowledge is Power’

Finn, of the Alzheimer’s National Capital Area Chapter, stated that knowledge of the disease—while scary—can help mitigate confusion and can be empowering in the face of a diagnosis.

“This is a major health crisis. It is the most expensive disease in America. It is breaking the bank of families and of our country. Knowledge is power,” Finn said.

“The brilliant work here at Georgetown offers a very substantial reason for hope, knowing there is a journey between now and a cure …” she added.

Two Sides of the Coin

Donovan noted that having advance knowledge of this impending disease would enable people to do appropriate economic, medical and advanced care planning, as well as putting their affairs in order while they are still able to assert their choices.

Yet he acknowledged that the current bleak prognosis could overwhelm people’s desires to know if they are at risk.

“[Knowing] gives you a chance to brace yourselves and make appropriate plans. Having said that, there are people who don’t want to know—and that’s understandable. There are people who couldn’t deal, and who want to live their lives unencumbered by this information,” the bioethicist said.

A major fear people cite regarding Alzheimer’s is that they will become a burden to others, Donovan said.

“The one thing that we as a society need to do is address that fear, and address the care of those people who won’t be able to care for themselves until the end of their days, and make sure that fear of being a burden can be managed,” he said.

Finn agreed, stressing, “We have to break the silence.”

By Lauren Wolkoff
GUMC Communications