Navigating “The Wild West” Marketplace of Consumer Genetic Testing–and Other Needed Information About Our DNA

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In an article in The New York Times Sunday Review, genetics counselor Laura Hercher described a man named Matthew Fender, who—after searching for heredity data through 23andMe—had placed his genetic test results into Promethease, a DNA search engine that probes such data for variants cited in the medical literature. 

Fender had sought to learn his risk for developing a pulmonary embolism, the condition that had killed his sister, a seemingly healthy young woman of 23. The report didn’t mention that, but it did provide the alarming news that he carried a mutation (PSEN1) strongly associated with early onset Alzheimer’s, as well as two copies of a gene variant (ApoE4) that indicates greatly increased chances of developing late-onset Alzheimer’s.

After getting no satisfactory guidance from his primary care doctor and other professionals, Fender checked out a competing genetics company, Ancestry DNA,  to see what his results there would say about the PSEN1 variant. They said nothing. He then persuaded his doctor to order the test, which proved negative.

End of story for Fender, although he said the experience led him to improve his diet and to consider using his technological skills to develop an app to assist people with dementia through voice-activated devices such as Siri and Alexa.

It’s worth noting that both companies claimed their tests were 99.9% accurate. Yet a 23andMe representative told Hercher that “a 99.9% accuracy can still mean errors.” And apparently, not every variant in their chip is even validated for 99.9% accuracy.

“The direct-to-consumer genetic testing marketplace is a regulatory Wild West,” wrote Hercher, who is the director of research at the Sarah Lawrence College Graduate Program in Human Genetics.

She’s also the host of an informative and entertaining podcast, “The Beagle Has Landed,” (named after Charles Darwin’s ship—not Charles Schulz’s Snoopy), designed for both professionals and “curious patients,” according to its introductory press release. One of her interviewees was Matt Fender.

Hercher explained that FDA Commissioner Scott Gottlieb announced in November a new regulatory approach that will allow companies like 23andMe to market some tests to determine health risks without premarket review. That change, Hercher observes, “is expected to usher in a rapid expansion of the consumer genetics industry.”

That means we consumers will need to better prepare ourselves to function in this new ”Wild West” by getting a better education on the important topic of genetics and the role it plays in our health—even as the field itself is changing all the time.

With that backdrop,  I spoke with Hercher to elicit her opinions on how to view all these genetic data at this stage. 

First, to her, the quest for information about one’s heritage, which she calls the “ancestry craze,” is a “mixed bag.” The positives she underscores are that people enjoy and are intrigued by learning about their forebears, and the process brings science and genetics into people’s lives.

But when people ask her if these quests yield legitimate information, she responds: “It’s accurate-ish. People think of this as their genealogy, but once you get past Mom and Dad, there’s a lot of randomness—you could inherit something important, or not.”

“People like to tell a story they can understand, a narrative that can explain why people turned out certain ways. Genetics also tells a story, but the risk we run is that when hearing it, we put aside other stories—involving culture and heritage, for example.  It’s very hard to weave it all together.”

If we’re interested in our predecessors’ story, then their story is ours, she notes, and that’s valuable to us. “Genes are a part of that, but not all of it. Even among siblings: one person could have 34% Southern European heritage, while his brother registered 15%. Would that make sense? No. The tests don’t gather with that level of precision.”

Hercher analogizes a swimming pool, with some blue substance for African ancestry, red for Chinese, etc. “The testers scoop a sampling from a spot of genomes into a net, and they’ll get red, green, yellow,” she says.  “Different tests reach down and get the same mix, but it’s not identical.”

To Hercher, the ancestry tests also tend to encourage a kind of tribal thinking and ignore the overriding message: 99% of our DNA identifies us as human and is genetically shared among us. “The DNA story is our commonality as a people—as well as with other living things. I wish these companies presented the data in a way that made that clear.”

And this commonality has great implications for the subject of race. “No quality geneticist will tell you that the concept of race does a good job of describing our shared genetic ancestry. Race isn’t a scientific grouping; it’s defined culturally. There’s more mixture within groups than between groups.” In a point that is probably obvious to all but the most rabid white supremacists, she says: “Racial purity is a myth.”

Those in the genetics field are disturbed by the current efforts to bring back eugenics, or “scientific racism,” which was once believed even by serious scientists who felt they could, by controlled breeding, create an increase in desirable heritable traits and a decrease in undesirable ones, thereby improving the human race. 

The concept was easily manipulated and became discredited after its use by the Nazis in Germany. “Now all these things are widely talked about,” Hercher laments. “The white nationalist movement has adopted the language of hate ideology and put a scientific gloss on it.”

This is the background for the hot water that Massachusetts Senator Elizabeth Warren has gotten herself into by taking a DNA test to prove her Native American ancestry. With this action, critics say, the possible 2020 Presidential candidate has played into the concept of “racial science”–validating the alleged link between blood and race, which The New York Times calls “a bedrock principle for white supremacists and others who believe in racial hierarchies.”

That’s not, I trust, the way most of us view genetics. We may remember how we were introduced to the subject in school: with Gregor Mendel and the 29,000 pea plants he cultivated that formed the foundation of the field. But even among the experts, “we never knew how complicated heredity is,” Hercher says. Single gene inheritance, such as blood type, is fairly straightforward and rare—as are diseases attributed to a single gene, the so-called “Mendelian diseases,” which include sickle cell disease, as well as cystic fibrosis, Huntington disease, muscular dystrophy, and a few others. 

Most of genetics, Hercher stresses, is more multi-layered. Heredity, and the traits and illnesses that are in our DNA, involve the interaction of genes with both our external environment and the internal environment comprised of our hormones, metabolism, and other factors. So when we find out we have certain genes—and their variants and mutations—there’s no straight line to determining how our bodies will deal with their existence.

One important issue that stirs debates among geneticists involves ApoE4—the gene that denotes a higher risk for Alzheimer’s and carries both individual and societal implications—for care and economics—as our population ages. Approximately 25% of Caucasians carry this gene, but Hercher points out that an individual at somewhat increased risk may not develop the disease; while someone with decreased risk may still get it. 

And currently, without a cure, that raises questions. “There’s a faction in the genetics counseling community that says we have no business giving out that information,” says Hercher. Indeed, when Matt Fender initially sought guidance from his primary care doctor, Hercher reported in her Times article, the doctor responded: “What the heck do we do about it, once we know, other than create high anxiety?” However, says Hercher, “a growing faction says that whether or not to provide the information is not really our call.” In other words, it’s the patient’s decision.

So if we’re deciding to search out our ancestry–or to be tested for a possible disease– the important thing for us, the consumer/patient, is to seek education before we even consider being tested. 

How will we regard the potential results? Do we need the information to inform our choices about health decisions that must be made—before a pregnancy, for example, or to assess our odds of developing certain cancers?

On such matters, Hercher stresses, both factions in the genetics counseling community agree: if the information is to be given, good counseling should be involved to help patients think through the implications—and then to support them once they’ve decided whether or not to act on the findings.

What do you think? Have you had any experiences you’d like to share? Please enter them in the Comment box near the bottom of this post.

Annie

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OK. The Dems Won the House. Now What?

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Well, there really was a blue wave—reportedly the greatest turnover since 1974—and a number of races remain too close to call or subject to a recount. These victories are especially impressive because of the gerrymandered districts and increased state restrictions that led to long lines at the very least and disenfranchisement of numbers of voters, mostly people of color. For a detailed look at what voters faced, read What It Takes to Win, published by the Brennan Center for Justice in October. 

As I stated in my last post, I view this not as a partisan issue—but as a critical win for our democracy. Unless/until the Republicans become better stewards of their Constitutional oaths, or are replaced by a new political force more willing to seek compromise for the good of the people, I hope Americans will continue to shun them in large numbers.

However, one of the consequences of this election was the defeat of some of the most moderate Republicans, increasing the likelihood that the party will become even more intransigent. 

And so, although I’m grateful that the Democrats can put the brakes on many of President Trump’s chaotic, sometimes horrific actions, I see reason for concern that to accomplish anything on the substantive issues needed to show voters they are delivering and to hold their majority, the Democrats face an uphill battle. 

Healthcare was the most important topic to voters according to exit polls, and the primary topic for many victorious new Representatives. Will even the hyperpartisan Mitch McConnell, who will face reelection himself in 2020, get the message and be willing to compromise—even if he’s likely to face a primary opponent to his right?

In essence, the Democrats will just have to forge ahead, showing the public where they want to go. Economics must be in the forefront. On the critical issue of income inequality, Michael Tomasky’s Op-Ed, The Democrats’ Next Job, which appeared in The New York Times days before the election, provides a terrific roadmap. 

Tomasky analyzes the void in the Democrats’ overarching message over the past several decades, and his prescription for the path forward is one of the clearest, most cogent, and sensible arguments I’ve read. Here are his opening paragraphs, and I quote him further, but I recommend the entire piece.

“Win, lose or draw on Tuesday, the Democratic Party will almost immediately turn its focus to the next presidential election and the fight between the establishment center and the left wing. But while the Democrats have that argument, they must also undertake the far more important task of thinking about what they agree on, and how they can construct a story about how the economy works and grows and spreads prosperity, a story that competes with—and defeats—the Republicans’ own narrative.

“For 40 years, with a few exceptions, Democrats have utterly failed to do so. Until they fix this, they will lose economic arguments to the Republicans—even though majorities disagree with the Republicans on many questions—because every economic debate will proceed from Republican assumptions that make it all but impossible for Democrats to argue their case forcefully.”

Tomaski eviscerates supply-side economics and then provides “the affirmative case for the Democratic theory of growth.” He stresses “expanding overtime pay, raising wages, even doing something about the enormous and under-discussed problems of wage theft.” And he stresses that the Democrats should say they make these arguments not “out of fairness or compassion or some desire to punish capitalists.

“We want to address them because putting more money in working- and middle-class people’s pockets is a better way to spur on the economy than giving rich people more tax cuts.”

Democrats, he adds, “should defend this argument because it’s what more and more economists argue and because it’s what Democrats believe.”

Importantly, he points out that Democrats who vary politically, such as Senator Joe Manchin of West Virginia and Representative Raul Grijalva of Arizona, can agree on this issue.

 “They’re both Democrats for a reason, and presumably that reason is they think government can be a force for good in people’s lives. So, if Democrats think it, they should say it. 

He is thereby offering a unifying position that is essential if the Democrats are to avoid defeat due to factionalism.

Tomaski accurately points out that this strong Democratic response to supply-side economics needs a name. I think the name is extremely important in garnering interest and enthusiasm for the effort. However, the one he mentions in passing, “middle-out economics,” leaves me cold. 

It does have the advantage of brevity, and Democrats are always accused of failing the bumper sticker test with their lengthy explanations of positions, but it’s neither intuitively comprehensible nor catchy. A considerable effort should be made, bringing in some of the most talented wordsmiths available, to arrive at a phrase that is concise and inspiring. 

If you have suggestions, please add them to the Comments section, and I will forward them to Tomaski. You can also forward them to your own representatives, explaining the context.

Two more takes on implications of the election results, both hot-button issues.

1. The speaker. I know all the arguments against Nancy Pelosi, and though I understand them, I think this is absolutely the wrong time to replace her. She’s the most powerful woman in the US government—and she has done her job with great success. She’s a prodigious fund-raising and vote-counter whose experience is essential in these wacky times. 

Plus, health care has been the cause of her life. Reports are that she had planned to retire after Hillary Clinton’s election, so I don’t think she’s doing this for her ego. I expect her to be an effective mentor for the newly elected women in her caucus and to seriously broaden the leadership bench of the Democratic Party. 

2. Impeachment. I fully support the Democratic House committees’ investigations into all the matters that the Republicans stonewalled or distorted. But the Democrats have an important balancing act to perform between conducting investigations and trying to enact meaningful legislation. 

As much as I would love to see the President removed from the Oval Office (and VP Pence investigated for his apparent lies), I oppose impeachment efforts at this time. Unless the Mueller probe’s findings or other investigations persuade enough Republican Senators that they must act, at last, ensuring conviction by the Senate, impeachment by the House will simply play into Trump’s hands, allowing him to play the victim, making him act even more erratically, and possibly strengthening his chances of reelection.

Ultimately, these issues demand the continued and enhanced participation of all of us in our democracy by our ongoing engagement with our elected representatives on all levels. 

Please let me know your thoughts on any or all of these issues. And please don’t forget to share, award stars below my name (one awful—five excellent), or like this post (if you’ve signed on via WordPress). Knowing you’re reading and considering these posts is very important to me. Thanks so much.

Annie