Company to sell Alzheimer’s test

Company to sell Alzheimer’s test

Some researchers question the value of the test.

Philadelphia Inquirer

PHILADELPHIA — Two to four of every 100 people unknowingly carry a combination of genes that renders them unusually vulnerable to Alzheimer’s disease as early as their 60s.

If you want to find out whether you’re one of them, the Philadelphia company Smart Genetics is about to offer a test you can order over the Web. For $399, customers receive a kit and send back a saliva sample. Within three weeks they learn whether they carry one or two copies of an Alzheimer’s-associated genetic variant known as APOE4.

But while the company’s chief executive officer expects to launch the test this month, some geneticists and Alzheimer’s researchers question its value. They argue that those test results can do nothing to stave off the fatal disease, which robs people of memory and mental abilities.

Others say information is power, and see a rising demand for genetic testing — whether or not it’s recommended by doctors or vetted by government agencies.

A study announced Monday in the Archives of Neurology may fuel further interest because it confirmed a gravely increased risk for people whose parents both developed the disease.

The Alzheimer’s test is not for everyone, said Julian Awad, Smart Genetics cofounder and CEO. But from market research, he said, he has found potential customers who want to use the results for life planning.

“They want information about how to arrange personal affairs or talk to loved ones about how they would want to be treated if they get the disease.” In addition, Awad said, “a lot of people are curious.”

Awad, 34, said he planned to be tested: “My grandfather passed away from Alzheimer’s disease, so this strikes close to home.” His partner in the venture, 30-year-old biochemist Richard Watson, said he, too, wanted to know his genetic status.

The test examines a gene called APOE (Apolipoprotein E), which comes in three relatively common forms: APOE2, APOE3 and APOE4. Everyone gets two of these, one inherited from each parent. Some carry two different forms, and some get two of the same. The most common is APOE3, and most people carry two.

Dozens of studies have shown that people carrying two copies of APOE4 face about a 50 percent chance of getting the disease, compared with a 10 percent to 15 percent risk for the general population.

Even more frightening is that double APOE4 carriers get the disease earlier. According to data published by neurologist Robert Green of Boston University, those who have a first-degree family member with Alzheimer’s and two APOE4s face a 40 percent 45 percent risk of getting the disease before they reach 70.

“The effect of APOE is really on the age of onset,” said neurologist Norman Relkin of New York Presbyterian Hospital. “If you possess one or two copies of APOE4, it makes it more likely that the disease will have an onset between 60 and 75.”

While only 2 percent to 4 percent of people will test positive for two E4s, about a quarter of the population carries a single copy, along with an APOE2 or an APOE3. They face a somewhat elevated risk of Alzheimer’s — around 25 percent — with women at significantly higher risk than men.

Although researchers disagree over the value of genetic testing, there’s nearly universal agreement that the APOE gene has a powerful influence on risk and that studying it might lead to strategies to fight Alzheimer’s, which now affects about 5 million Americans.