Test Your DNA For Diseases — No Doctor Required

Anne Wojcicki, co-founder of 23andMe, in Mountain View, Calif., is planning to make whole genome sequencing available directly to the public.

When Anne Wojcicki’s son was a baby, she ran a swab across the inside of his cheek, collecting DNA to send to a lab. Last year when she was pregnant with her daughter, she tested her amniotic cells. The goal in each case: to get a glimpse of her children’s genes—including whether they contain certain kinks that increase the risk of developing everything from gallstones to multiple sclerosis. “As a parent,” says Wojcicki, “the most responsible thing I can do is get as much information about my children as possible so I can then think through how I can make them as healthy as possible.”

Wojcicki isn’t just any random parent, though. She’s a Yale-educated biologist and the co-founder and CEO of 23andMe, a company in Mountain View, Calif., that sells DNA analysis directly to consumers—no doctor required. “Your information is your information,” says Wojcicki, who is married to Google co-founder Sergey Brin. “If you want it, you should be able to have it.”

Genetic tests have been around for years, but in 2003 scientists took the field a step further, announcing the first complete mapping of a human genome—an entire genetic code. Sequencing, or “reading,” a person’s genome is one of the newest, most controversial tools in the medical arsenal because of the motherlode of information it contains about future disease risk. Genetic markers for heart disease or cancer may spur consumers on to healthier behavior. But when it comes to conditions such as Alzheimer’s or Parkinson’s–which can’t be prevented—many experts are divided on whether knowing is helpful or harmful.

Yet even as physicians and bioethicists wrestle with the implications of revealing dark DNA secrets, entrepreneurs like Wojcicki are planning to make whole genome sequencing (WGS) available directly to the public. Other companies, like San Diego-based Illumina, are already offering the test to what CEO Jay Flatley calls a “healthy and proactive” demographic.

So far, these tests have been aimed mainly at early adopters: tech-savvy folks who buy the latest smartphones and are comfortable with life on the cutting edge. But as prices keep falling, the audience is likely to expand. Can the average mom or dad handle knowing all about the risks lurking in their kids’ DNA?

“Everyone at this point is flying by the seat of their pants,” says Jim Evans, a medical geneticist at the University of North Carolina at Chapel Hill who is editor-in-chief of Genetics in Medicine. “The technology is outpacing us.”

Parents, of course, are often uniquely receptive to the latest promises of medical science. Firms offering private cord-blood banking bombard expectant moms and dads with what-if scenarios that can tempt all but the most hard-bitten parents-to-be to spend thousands of dollars storing frozen cord blood that will most likely never be used.

Adding to the confusion: it isn’t easy to interpret sequencing results. Much of our genome remains a mystery, and sifting through the sheer quantity of information generated by sequencing can be overwhelming. Even medical professionals, after years of training, are often unsure what to make of the pages and pages of data that genomic sequencing spits out. Dr. David Margulies, who oversees a Children’s Hospital Boston initiative to make genetic and genomic insights more accessible, says better interpretation is “the last major barrier to widespread clinical use of DNA sequencing.”

In Cambridge, Mass., Knome is working on erasing that barrier. For $2,000 per person, Knome does the data-crunching needed to interpret a sequence—figuring out what all those billions of nucleotides, or DNA “letters,” mean. When the company launched five years ago, its clients were mostly universities and pharmaceutical companies. Now it’s going mainstream. “There has been a big shift this year,” says Knome CEO Martin Tolar. “We have been swamped with requests from clinics.”

Knome’s software separates the data into tiers of relevance. “There will be a report about different levels of importance that says, These variants are actionable, meaning you know what they are and can do something about them, these variants don’t seem relevant, and these are novel variants we haven’t seen before and don’t yet understand,” says Tolar.

Yet even though some companies are making complex genetic data more digestible, direct-to-consumer tests like the ones 23andMe offers have been criticized for their methodology, which some critics regard as “genetics lite.” To weigh in on a person’s predisposition for conditions including celiac disease and melanoma, 23andMe only looks at a small fraction of points along someone’s genome. The company is currently seeking FDA approval for this approach. In the past year, some other direct-to-consumer DNA companies have closed up shop before undergoing this kind of regulatory scrutiny.

Eventually, 23andMe intends to start offering WGS, which dives much deeper by analyzing all 3 billion base pairs, or sets of “letters,” that make up a person’s DNA alphabet. But unlike the dozen or so academic labs and private companies that are already sequencing genomes or exomes—the subset of genes that codes for proteins, which regulate the body’s tissues and organs—23andMe would not require a physician’s approval for this process. That means that one day, accessing a sophisticated sequencing test could be as easy as buying a pregnancy test at a drugstore.

Many in the industry remain skeptical about cutting out the clinician. GeneDx, a Maryland-based genetic testing company, charges $5,000 to sequence an individual’s exome. But the company will only run its tests at a doctor’s request. “If you leave out the physician, there could be significant misunderstandings,” says Amar Kamath, vice president of marketing.

Parents, for example, may not know that genes are far from the last word in determining disease risk; environment plays a significant role too. And they may be unprepared to respond to the news that their children are predisposed to develop serious diseases as adults. It can be an emotional blow—and a life-long burden—if a mom learns that her baby girl carries a mutation that increases her risk of breast cancer or a dad finds out that his aspiring linebacker is genetically predisposed to developing Alzheimer’s. That’s why Illumina’s Flatley personally vets every clinical case and refuses to sequence kids who aren’t sick. “We don’t do this just for fun,” he says. “We do it on children when we’re trying to save their lives. We don’t believe parents have a legal or ethical right to do this.”

Wojcicki doesn’t share that viewpoint, personally or professionally. Since 23andMe launched in 2006, more than 180,000 people have been tested as the price has fallen from $999 for information on 14 traits and health risks to $299 for more than 200. About 3% have been children, and Wojcicki thinks demand for testing kids is on the rise. “I do believe at some point in time everyone will be genotyped at birth,” she says.

Nor does she disagree about the value of having a doctor weigh in; she says she had the data from her unborn daughter’s testing sent to her pediatrician. “I did actually find it helpful to walk through that with her,” says Wojcicki. But she does take issue with the need for a physician to sanction the tests in the first place.

Though Wojcicki won’t discuss her kids’ results, she recently mused on her company’s blog about her motivation for testing her children. She’s particularly interested in Parkinson’s disease because her husband has a genetic mutation that heightens the risk by up to 80%. Brin’s mother has the disease; his kids stand a 50% chance of inheriting it.

Wojcicki, who is 39, notes that some genetic findings could be used to influence parents’ everyday decisions—down to which sports their kids play. For instance, there’s a gene mutation called APOE-4 that indicates a higher risk of developing Alzheimer’s. In people who test positive for APOE-4, research has associated traumatic brain injuries with a greater likelihood of brain disease.

In other words, if you know your kid has the APOE-4 gene mutation, you just might knock PeeWee Football or ice hockey—Wojcicki played on the varsity team at Yale—off the list of extracurriculars. At the least, you’d probably give extra consideration to insisting that your child wear a helmet on the soccer field.

For Wojcicki, this emphasis on genetic testing has nothing to do with overprotective parenting and everything to do with preventive medicine. “The way I can potentially start to prevent certain illnesses is to know what they’re at higher risk for,” Wojcicki recently told TIME. Her grandmother had macular degeneration; when testing revealed that some of Wojcicki’s nieces and nephews are at higher risk, she responded by buying them high-quality sunglasses. If her own kids were predisposed to developing diabetes, she’d encourage healthier eating. “I want to do everything I can to potentially enable my children to be disease-free,” she says.

Social Security Benefits to Go Up by 1.7 Percent

I am happy about the increase in Social Security but let's be honest here... it is one of the smallest increases since 1975. It is barely keeping up with inflation. Uggghhhhh....

 More than 56 million Social Security recipients will see their monthly payments go up by 1.7 percent next year.

The increase, which starts in January, is tied to a measure of inflation released Tuesday. It shows that inflation has been relatively low over the past year, resulting in one of the smallest increases in Social Security payments since automatic adjustments were adopted in 1975.

This year, Social Security recipients received a 3.6 percent increase in benefits after getting none the previous two years.

About 8 million people who receive Supplemental Security Income will also receive the cost-of-living adjustment, or COLA, meaning the announcement will affect about 1 in 5 U.S. residents.

Social Security payments for retired workers average $1,237 a month, or about $14,800 a year. A 1.7 percent increase will amount to about $21 a month, or $252 a year, on average.

Social Security also provides benefits to millions of disabled workers, spouses, widows, widowers and children.

The amount of wages subjected to Social Security taxes is going up, too. Social Security is supported by a 12.4 percent tax on wages up to $110,100. That threshold will increase to $113,700 next year, resulting in higher taxes for nearly 10 million workers and their employers, according to the Social Security Administration.

Half the tax is paid by workers and the other half is paid by employers. Congress and President Barack Obama reduced the share paid by workers from 6.2 percent to 4.2 percent for 2011 and 2012. The temporary cut, however, is due to expire at the end of the year.

Some of next year’s COLA could be wiped out by higher Medicare premiums, which are deducted from Social Security payments. The Medicare Part B premium, which covers doctor visits, is expected to rise by about $7 per month for 2013, according to government projections.

The premium is currently $99.90 a month for most seniors. Medicare is expected to announce the premium for 2013 in the coming weeks.

“If seniors are getting a low COLA, much of their increase will go to pay off their Medicare Part B premium,” said Mary Johnson, a policy analyst at The Senior Citizens League.

By law, the increase in benefits is based on the Consumer Price Index for Urban Wage Earners and Clerical Workers, or CPI-W, a broad measure of consumer prices generated by the Bureau of Labor Statistics. It measures price changes for food, housing, clothing, transportation, energy, medical care, recreation and education.

The Social Security Administration compares the price index in the third quarter of each year — the months of July, August and September — with the same three months in the previous year.

If consumer prices increase from year to year, Social Security recipients automatically get higher payments, starting the following January. If prices drop, the payments stay the same, as they did in 2010 and 2011.

Since 1975, the annual COLA has averaged 4.2 percent. Only five times has it been below 2 percent, including the two times it was zero. Before 1975, it took an act of Congress to increase Social Security payments.

The COLA has played an important role in keeping older Americans out of poverty, said David Certner, AARP’s legislative policy director. Most older Americans rely on Social Security for a majority of their incomes, according to the Social Security Administration.

Over the past decade, the COLA has helped increase incomes for seniors, even as incomes have dropped for younger workers.

From 2001 to 2011, the median income for all U.S. households fell by 6.6 percent, when inflation was taken into account, according to census data. But the median income for households headed by someone 65 or older rose by 13 percent.