an idea of earth shattering significance

ok.

been looking for alignment between a significant industry sector and human health. it’s a surprisingly difficult alignment to find… go figure?

but I had lunch with joran laird from nab health today, and something amazing dawned on me, on the back of the AIA Vitality launch.

Life (not health) insurance is the vehicle. The longer you pay premiums, the more money they make.

AMAZING… AN ALIGNMENT!!!

This puts the pressure on prevention advocates to put their money where their mouth is.

If they can extend healthy life by a second, how many billions of dollars does that make for life insurers?

imagine, a health intervention that doesn’t actually involve the blundering health system!!?? PERFECT!!!

And Australia’s the perfect test bed given the opt out status of life insurance and superannuation.

Joran wants to introduce me to the MLC guys.

What could possibly go wrong??????

Dodgy wearables…

Dodgy wearables indiegogo pitch.

Airo gets a mention.

OK, I get it.

http://pando.com/2014/03/20/on-indiegogo-a-miracle-health-device-raises-730k-and-a-whole-load-of-red-flags/

On Indiegogo, a miracle health device crowdfunds $730k. One problem: it might be total bullshit

319462_10150807895075313_1360808361_nBY 
ON MARCH 20, 2014

healbe
It’s the stuff that crowdfunding dreams are made of.

An Indiegogo campaign for a gorgeous piece of wearable tech, shown off in a slick video with some great visuals. Speaking with a thick Russian accent, Healbe CEO Artem Shipitsyn describes what his company calls the ‘The Original 100% Automatic Body Manager.’ It’s called the ‘GoBe’ and it does everything a Fitbit can but so, so much more. Using Healbe’s “Flow” technology – pressure and impedance sensors mixed with an accelerometer – the device is capable of reading glucose levels through your skin to give an accurate calorie count of everything you’ve eaten, against all the energy we’ve burnt. Despite Shipitsyn’s accent, the device’s Indiegogo page says that the company is based in San Francisco.

“Tell it nothing. Know everything. Go be you,” the video signs off. The GoBe will be delivered by June of this year, to anyone who stumps up just $199.

This, ladies and gentlemen, is a market changer. Step right up!

And people have certainly stepped up. As of midday today, Shipitsyn’s campaign has raised $730,294 in two weeks, from 3253 backers — more than seven times its initial funding goal. Thirty-three backers have paid $1175 for a “Club Pack” including ten GoBe-s.

No shame in admitting it: I was impressed. If GoBe did what it claimed, this was the end of the Fitbit, the Up and just about every other weight loss technology.

And so, keen to be the first reporter to cover this marvelous piece of technology, I started asking questions. What I discovered was something far from the slick, bay area startup Healbe purported to be. Rather, I found a publicity shy company, operated remotely from Russia, promoting a device unsupported by any medical or scientific evidence whatsoever. One that thousands of backers have supported to the tune of almost three quarters of a million dollars, and one that Indiegogo says raises no red flags. In the exact words from an Indiegogo spokesperson: ”We have no reason to believe that this company’s Indiegogo campaign is at all fraudulent.”

[UPDATE: The day after publication, a different spokesperson for Indiegogo took issue with the idea that no red flags were ever raised by the campaign, finally confirming to us that the campaign was indeed investigated– and cleared– by Indiegogo’s usual anti-fraud methods. She declined to explain why the basic mistruths and inconsistencies we found in our reporting– which haven’t been denied by Healbe– didn’t concern Indiegogo. She also declined to explain what types of discoveries would lead Indiegogo to conclude an offering was fraudulent.]

My initial doubts were raised last week when I contacted the company’s information line and received no response. This is odd. Normally when I contact the folks behind crowdfunding campaigns, the response is prompt, and enthusiastic. The more publicity, the more money, after all.

I try again this past Monday. Finally, Meghan Donovan, from MicroArts Creative Agency in Greenland, New Hampshire replies, asking if we can talk the next day. There’s just one problem, she explains when we speak: everyone at Healbe was travelling through the end of the week. She promises to get back to me within a couple of days.

A Google search shows that the GoBe has been the subject of about two dozen press articles, but all of them either quote from the press release or the Indiegogo campaign itself. No major tech website has covered the device, and no scientists seem to be as excited as I am about its apparent medical breakthrough. Healbe might be the most press-shy successful startup on earth.

Artem Shipitsyn (also spelt as Shipitsin) and five of his six colleagues listed on the Indiegogo page – George Mikaberydze, Stanislav Povolotskiy, Michael Rubin, Eugene Sokolov, Pavel Mussel – are traceable online only in relation to this one Indiegogo campaign. Shipitsyn lists himself on the page as “a major developer of market solutions and new products for global brands such as Rostelcorn, Sberbank, L’Oreal, Valio, Reebok, Hearst Shkulev, Discovery Channel and more.” And yet on hisLinkedIn profile he lists none of that, describing himself instead as the owner, since 2004, of Iridium, a marketing company in Russia with little discernible online footprint. And now the CEO of Healbe.

Healbe’s website lists no contact details except for the email address that connected me to Donovan’s PR agency in New Hampshire. An address listed for Healbe Incorporated on an old version of its website leads to a law firm, White Summers, in Redwood City. A receptionist for White Summers confirms that Healbe is a client. The company itself is registered in Delaware. This is apparently the extent of its American infrastructure.

Meanwhile, some of GoBe’s backers are getting cold feet: requests for refunds are starting to trickle on to Healbe’s Indiegogo page, dissent is growing on the company’s Facebook and a few Redditers are getting twitchy.

Michelle MacDonald, a clinical dietician at the National Jewish Health hospital in Denver, tells me that her eyebrows were raised almost immediately when she read Healbe’s claims that, through an “algorithm,” it can work out from glucose levels in our cells what our caloric intake was. “Of course they’re claiming an algorithm, because it’s a fun word,” McDonald laughs.

The problem is, MacDonald explains, the three main nutrients that determine caloric intake are carbohydrates, protein and fats. Glucose provides only a small part of the picture. A company that invented a non-invasive way to measure glucose would be a huge hit with the treatment of diabetes. Currently, diabetes sufferers have to prick their skin and make themselves bleed. The technology is probably coming soon, MacDonald says, but when it does it will be the size of a shoebox. It will also likely involve some form of infrared light shone through the skin that will measure the fluid in interstitial cells to approximate the blood glucose level in a simple milligrams per deciliter figure. It will come from a big lab, will be huge news and make a lot of money.

“If you actually had this technology, Indiegogo would be the last channel you’d go through,” MacDonald says.

Let’s imagine that Healbe really has perfected this technology, though. Even so, MacDonald says, nothing described in the video could do what it claims to. The impedance monitor could look at hydration, the pressure monitor could examine pulse and the accelerometer could tell us about action. But none of those three things could tell you anything about glucose levels. A graphic of Healbe’s accompanying smartphone app even shows it measuring fat and carbohydrates, which is doubly ridiculous.

MacDonald takes particular umbrage at Healbe listing its chief scientist Eugene Sokolov as having a background as a rocket scientist. “I wish I was a standup comedian. I could really run with that,” she laughs. Maybe they’ve left out the key part from the video, she hedges. “But when you fail to explain it, that’s always a red flag.”

In fact there are multiple red flags.

I call Meghan Donovan back. She assures me that the GoBe is a real, working device. Her company was employed by Healbe in Fall 2013 and Shipitsyn came into the MicroArts office to film the Indiegogo video in January. He bought two models in for the video, but Donovan admits that she never saw the device in action. Shipitsyn told her that they were doing their own internal tests. But, she tells me, Healbe displayed its product at CES. That’s something.

On closer inspection, Healbe’s Indiegogo page talks about having “unveiled” the GoBe at CES. Except when I look, there’s no reference to Healbe in the CES directory of exhibiting companies in 2014.

I talk to Healbe’s industrial designer Jozeph Forakis, who has done work for Motorola and Swatch in the past. Over Skype from Italy, Forakis confirms that he has worked with Shipitsyn and Healbe for a year on several different prototypes, “the most recent of which were shown in January in CES.”

Why, then, can’t I find any reference to Healbe in the CES directory? Well, Healbe wasn’t technically at CES Forakis admits. But Shipitsyn was in Las Vegas at the time, taking meetings in his hotel room.

Forakis and Donovan are the only two people I can find who claim to have seen a GoBe in real life. Neither are willing to vouch for the science behind it.

At least Indiegogo believes in Shipitsyn. The Healbe campaign raises no red flags, a company spokesperson tells me. Indiegogo, she says, has a vested interest in security. It prides itself on its “equal opportunity, open platform… literally anyone from anywhere in the world can raise money here.”

In October last year, a Canadian company called Airo Health promised a wearable that could do the same thing as Healbe, with a slightly different technique – looking at nutrient levels in our blood by shining a light through it. The company took pre-orders through its website, but a month later refunded all of its customers. “Through conversations with others in the industry, we have come to realize that it requires further testing,” the company said in a release.

Indiegogo protects itself against fraud with an algorithm — that word again — that detects troublesome accounts, alongside human vetting and the group mentality of crowdfunding picking  out bad eggs.

Fraud is a slippery term, though. It doesn’t account for more subtle manipulations. Healbe’s Gobe activity tracker looks enough like a Fitbit that the average shopper can grasp what it is, and what it might be able to do. The automatic calorie reader claim is an advancement that we can all appreciate the significance of, but few of us can pick apart the science behind. Indiegogo can protect against an outright fraudster, but a snake oil salesman with an unproven product is a different matter. Since the beginning of recorded history, opportunists have been using impressive pitches to sell miracle health potions and devices — really the only thing that’s changed is the technology (although it used to be that if you were conned by a snake oil salesman, at least you’d end up with a pretty glass bottle. Indiegogo can’t even promise that.)

Indiegogo wants to keep these concerns inside the domain of the campaigner-funder relationship. Despite $730,000 in pledges, Indiegogo’s position is that as long as there’s a real company claiming to make something that doesn’t violate its terms of service, it has no moral or legal obligation to ensure that the GoBe is legit. All backers can do is wait until June to see if their miracle band shows up and does what it says in the video.

I was finally able to reach Shipitsyn and Healbe’s managing director George Mikaberydze this morning in Moscow, Russia, via Skype, two hours before my deadline for this piece. Their schedules had apparently become more flexible since I started asking questions.

Shipitsyn holds the device close to the camera — it seems to be the same as in the video — while Mikaberydze points to a fuzzy line on an app that, he says, breaks down his energy consumption over the last 20 minutes since he ate a Snickers bar. They were at CES, they say, as the guest of Levin Consulting, with their own meeting room. They hold up an attendee badge showing, at least, that they visited the conference.

So what about the science? Shipitsyn says that the impedance monitor in the Gobe can measure glucose by monitoring the water moving in and out of cells. Insulin opens up the cells when you eat sugar, he says. The company will publish their own clinical tests soon and are discussing with a third party clinic in America, Shipitsyn insists. They’ve slipped off the medical radar because the accuracy rates range between 80 and 90 percent. The head of Samsung Russia is apparently a huge fan.

It’s a breezy, confident pitch. Shipitsyn and Mikaberydze have a ready response to all of my concerns — the subtext being that I really ought to trust them.

But here’s the rub: I don’t. Or at least not enough to part with $199 for a device for which they haven’t yet released any clinical test results (despite their insistence that these apparently do exist) and which, right now, only exists as a demo on a screen.

I’ve jostled myself right up to the soapbox, pushed my face as close to the screen as it’s possible to get, and I still have absolutely no hard evidence that this device is any more than a smart mock up. Shipitsyn says its a miracle machine, at least one expert says it can’t possibly exist.

What I know for a fact is this: in about three weeks, Healbe will be close to three quarters of a million dollars richer, at least. Indiegogo says they have no reason to withhold the money raised, or to doubt that it will be used to deliver GoBes to three-and-a-bit thousand backers who have, presumably, weighed up the risks for themselves and decided to put their faith in Shipitsyn and his partners. Shipitsyn himself says there’s nothing to worry about, but it won’t be until at least June — plenty of time for the money to have moved from a Delaware corporation to a bank account in Moscow — before we know the truth.

Pando will keep pushing HealBe to publish their trial results and I’ll embed them in this post if and when they do. In the meantime, anyone who is inclined to bet $199 or more on a miracle weight loss device might recall the old maxim: if something seems too good to be true, it probably is.

Shipitsyn has a hell of a pitch, but my $199 is staying in my pocket.

See here for the latest updates on this story.

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James Robinson is a staff writer for PandoDaily covering hardware, advertising technology and the Internet of Things… among many other general goings on. Follow him on Twitter: @jalrobinson

Vale Frankie Knuckles: “On a scale of 1 to 10, it’s 12.”

“How hot is house music now?” an interviewer asks Knuckles in the video.

“On a scale of 1 to 10, it’s 12.”

http://www.huffingtonpost.com/2014/04/02/godfather-of-house-music-video_n_5078764.html?utm_hp_ref=chicago&ir=Chicago

Rare Video Footage Proves The ‘Godfather’ Of House Music Will Live On Forever

The Huffington Post  | by  Joseph Erbentraut

Consider yourself warned: This clip will probably bum you out that time travel still isn’t a thing.

On the heels of the passing of Grammy-winning house music pioneer Frankie Knucklesthe Media Burn video archive shared a previously unseen mini-documentary of the Oct. 25, 1986 opening of the Power House club in Chicago on Wednesday. The documentary was produced by filmmaker Phil Ranstrom.

The clip features a brief interview with Knuckles, plus footage of patrons dancing to what Knuckles coined as “disco’s revenge” and a performance from the Steve “Silk” Hurley-led J.M. Silk. These were the glory days of Chicago house.

“House music to me represents yet another form of black music that has broken from the street into peoples’ homes,” Simon Low, then an executive with RCA Records, says in the clip. “House music is intrinsically a Chicago phenomenon. You can hear it. I mean, all this music they’re playing tonight has come out of Chicago.”

Knuckles had his own Chicago club, the Power Plant, from 1982 to 1987. He then began the residency at Power House, but according to Tim Lawrence, author of “Love Saves the Day: A History of American Dance Music Culture, 1970-79,” Knuckles left Chicago for New York after Power House closed and was renamed the Music Box in 1988.

“How hot is house music now?” an interviewer asks Knuckles in the video.

“On a scale of 1 to 10, it’s 12.”

(h/t Gapers Block)

Greg Ellis (ex-REA CEO) leaving for Germany

http://www.abc.net.au/radionational/programs/saturdayextra/growing-aust-business/5364200

Growing Australian business

Saturday 5 April 2014 8:05AM

One of Australia’s most creative businessmen has joined a small but definitely growing critique of our national business culture.

Greg Ellis, the outgoing Chief Executive of the REA Group – the online real estate classified business, that’s rapidly increased in value under his leadership – strongly believes that Australian business needs a lot more fresh ideas.

The Eisenhower Matrix

Bang on.

http://time.com/46738/supreme-court-mccutcheon-campaign-finance-law/

eisenhower-matrix

 

 

 

How to Achieve Work-Life Balance in 5 Steps

Achieving work-life balance can look impossible. And, frankly, it seems like it’s getting harder.

In the ten years from 1986 to 1996 work-life balance was mentioned in the media 32 times.

In 2007 alone it was mentioned 1674 times.

Via The ONE Thing:

A LexisNexis survey of the top 100 newspapers and magazines around the world shows a dramatic rise in the number of articles on the topic, from 32 in the decade from 1986 to 1996 to a high of 1674 articles in 2007 alone.

The Onion jokingly implies that the only way to achieve effective work/life balance is to not have a job:

That’s hysterical — because it’s not remotely realistic. So what actually works?

You Need To Draw A Line

I’ve posted plenty of research on productivitytime management and procrastination – but that’s not the issue here. Not at all.

Those are hacks that help you be more efficient but in the modern world you are getting 25 hours of to-do’s thrown at you every 24 hours.

Thinking that if you spend enough time you will “get everything done” is an illusion. You will never be “done.”

The happiest people are not people who don’t have a care in the world. Those people are bored.

Research shows the happiest people are busy — but don’t feel rushed.

Anxiety is reduced by a feeling of control. And what do studies say about work-life balance? Same thing — a feeling of control is key.

You have to draw a line. You must decide what is important and what isn’t.

How do you draw that line? By asking yourself one simple question a few times a day.

“What’s The Most Important Thing For You To Do Right Now?”

The main problem people have is they try to do it all and treat everything as important.

You can’t do it all and everything is not equally important.

So how do you determine the most important thing for you to do right now?

1) What Are Your Values?

Clay Christensen, Harvard Business School professor and author of How Will You Measure Your Life?, knows what he values.

Watch from 34:55 to 38:50:

He works Monday to Friday. Saturday is for family and Sunday is for God. Period. No work on the weekends. No exceptions. No matter what.

Clay knows what’s important to him, drew a line and probably doesn’t suffer from many work-life balance worries.

Is this effective for everyone at every company? No. But you have to start with knowing what matters most to you and drawing a line.

2) What gets you disproportionate results?

Face it: often you start by doing whatever happens to be in front of you. But proximity does not equal priority.

In his book The ONE Thing, Gary Keller applies the “Pareto principle” to the workday:

Most of us get 80% of results from 20% of the work we do. So focus on that 20%.

What really creates progress vs treading water? What gives disproportionate results? Do that first and most frequently.

3) What’s the thing only *you* can do well?

If someone else can do the laundry at home, let them do it. If someone else can do the filing at work, let them do it.

But if you’re the parent, you need to be at the parent-teacher conference and if you’re the sales lead you need to be at the sales meeting.

Via The Effective Executive: The Definitive Guide to Getting the Right Things Done:

All in all, the effective executive tries to be himself; he does not pretend to be someone else. He looks at his own performance and at his own results and tries to discern a pattern. “What are the things,” he asks, “that I seem to be able to do with relative ease, while they come rather hard to other people?”

Management guru Pete Drucker says focus on the things that only you can do. Delegate, outsource or neglect the rest.

4) What’s most important right now?

You feel good when you check a lot of things off your to-do list. But were they things that are most important and urgent?That’s what matters.

Via The Decision Book: 50 Models for Strategic Thinking:

The Decision Book: 50 Models for Strategic Thinking

As the Eisenhower Matrix above reveals, just because something is urgent doesn’t mean it’s important.

And being important doesn’t necessarily mean it’s urgent.

And as Clay Christensen points out, it’s all too easy to put off important family time for urgent work deadlines.

If you’ve been neglecting your loved ones recently, work might be urgent but not important while family is both importantand urgent.

Sum Up

So how do you deal with work/life balance? Here are some key ideas:

  1. Everything is not equally important. Do fewer things and do them well.
  2. Decide what your values are — and which ones take precedence.
  3. Do the things that get disproportionate results.
  4. Focus on the things only you can do.
  5. Do the important things which must be done now.

It’s not simple and it won’t be resolved tomorrow but you can get much, much better at this with time.

What’s the most important thing to remember?

You can do anything once you stop trying to do everything.

UCL: Vegetable > Fruit and 7 portions a day…

 

Eating at least seven portions of fresh fruit and vegetables a day was linked to a 42% lower risk of death from all causes. It was also associated with a 25% lower risk of cancer and 31% lower risk of heart disease or stroke. Vegetables seemed to be significantly more protection against disease than eating fruit, they say.

There was a surprise finding – people who ate canned or frozen fruit actually had a higher risk of heart disease, stroke and cancer.

Oyebode and colleagues took into account the socio-economic background, smoking habits and other lifestyle factors that affect people’s health. What they have found, they say, is a strong association between high levels of fruit and vegetable consumption and lower premature death rates – not a causal relationship.

http://www.theguardian.com/uk-news/2014/apr/01/fruit-and-vegetables-seven-portions-ucl-study

Fruit and vegetable intake: five a day may not be enough, scientists say

UCL study suggests increase in daily fruit and veg intake linked to lower chance of death from stroke and cancer
Britain Continues To Use Metric Measurements

Eating at least seven portions of fresh fruit and vegetables a day was linked to a 42% lower risk of death from all causes. Photograph: Jeff J Mitchell/Getty Images

Five portions of fruit and vegetables a day – a familiar mantra for those concerned about their own and their children’s health – may not, after all, be enough, according to a new report by scientists, who suggest we should instead be aiming for seven a day, and mostly vegetables at that. Alarmingly for some who thought they were doing the right thing, tinned and frozen fruit may not be helpful at all.

The latest wisdom – guaranteed to raise a groan from those already perplexed over stories of suspect sugars and dodgy fats – arises from a study carried out by experts at University College London, who analysed the eating habits of 65,000 people, revealed through eight years of the Health Survey for England, and matched them with causes of death.

The clear finding was that eating more fresh fruit and vegetables, including salads, was linked to living a longer life generally and in particular, to a lower chance of death from heart disease, stroke andcancer.

Eating at least seven portions of fresh fruit and vegetables a day was linked to a 42% lower risk of death from all causes. It was also associated with a 25% lower risk of cancer and 31% lower risk of heart disease or stroke. Vegetables seemed to be significantly more protection against disease than eating fruit, they say.

There was a surprise finding – people who ate canned or frozen fruit actually had a higher risk of heart disease, stroke and cancer.

The authors, Dr Oyinlola Oyebode and colleagues from the department of epidemiology and public health at UCL, said they were unsure how to interpret the findings on canned or frozen fruit . It could be that people eating canned fruit may not live in areas where there is fresh fruit in the shops, which could indicate a poorer diet.

Alternatively, they could be people who are already in ill-health or they could lead hectic lifestyles. There is also another possibility: frozen and tinned fruit were grouped together in the questions, but while frozen fruit is considered to be nutritionally the same as fresh, tinned fruit is stored in syrup containing extra sugar. More work needs to be done to see whether sweetened, tinned fruit is in fact the issue, the researchers say.

Oyebode and colleagues took into account the socio-economic background, smoking habits and other lifestyle factors that affect people’s health. What they have found, they say, is a strong association between high levels of fruit and vegetable consumption and lower premature death rates – not a causal relationship.

But the strength of the study, published in the Journal of Epidemiology and Community Health, is in the big numbers and the fact that the data comes from the real world – not a collection of individuals who had a particular health condition or occupation, but a random selection.

The “five a day” advice was launched by the government in 2003, after the World Health Organisation advised in 1990 that our minimum daily intake of fruit and vegetables should be 400g a day.

France and Germany also recommend five a day, while the US abandoned the numbers in favour of a “fruit and veggies – more matters” campaign in 2007. But Australia advises people to eat substantially more. In 2005, the Australian government launched “Go for 2+5”, meaning two 150g portions of fruit and five 75g portions of vegetables. That is 675g, the equivalent in the UK of 8.5 portions.

Oyebode said she thought the Australian example was probably the one to follow. “I think it makes a lot of sense,” she said. “It is aiming for more and the balance is two fruit and five veg. From our study it looks like vegetables are better than fruit. But I don’t feel very strongly that the guidelines should be changed because the majority of people know they should eat five a day and only 25% manage that.”

Changes in policy, she said, would be needed to improve the UK score. “Anything that could increase the accessibility and affordability of fruit and vegetables would be very helpful, such as working with corner shops to make sure they stock them,” she said. Petrol stations could also offer fruit and vegetables and maybe the Healthy Start scheme – which gives families on less than £16,000 vouchers for fruit and vegetables – could be extended.

Other experts agreed that the study was sound and representative of the population, but cautioned that in a study of the habits of people in the real world, it is hard to take full account of complications, such as education, smoking habits and people failing to tell the exact truth about their diet. “A key outstanding question is whether this [reduced risk of disease] is entirely attributable to these specific foods, or whether they are acting as a marker of a broader dietary pattern associated with improved health,” said Professor Susan Jebb of the Nuffield department of primary care health sciences, University of Oxford.

Illumina’s $1000 genome

This article nice frames the immaturity of the technology in the context of population health and prevention (vs. specific disease management), and even references the behaviour of evil corporations in its final paragraphs.

 

Cost breakdown for Illumina’s $1,000 genome:

Reagent* cost per genome — $797

Hardware price — $137**

DNA extraction, sample prep and labor — $55-$65

Total Price = $989-$999

* Starting materials for chemical reactions

** Assumes a four-year depreciation with 116 runs per year, per system. Each run can sequence 16 genomes.

http://recode.net/2014/03/25/illuminas-ceo-on-the-promise-of-the-1000-genome-and-the-work-that-remains/

Illumina’s CEO on the Promise of the $1,000 Genome — And the Work That Remains

March 25, 2014, 2:18 PM PDT

By James Temple

Illumina seized the science world’s attention at the outset of the year by announcing it had achieved the $1,000 genome, crossing a long-sought threshold expected to accelerate advances in research and personalized medicine.

The San Diego company unveiled the HiSeqX Ten Sequencing System at the J.P. Morgan Healthcare Conference in January. It said “state-of-the art optics and faster chemistry” enabled a 10-fold increase in daily throughput over its earlier machines and made possible the analysis of entire human genomes for just under $1,000.

Plummeting prices should broaden the applications and appeal of such tests, in turn enabling large-scale studies that may someday lead to scientific breakthroughs.

The new sequencers are making their way into the marketplace, with samples now running on a handful of systems that have reached early customers, Chief Executive Jay Flatley said in an interview with Re/code last week. Illumina plans to begin “shipping in volume” during the second quarter, he said.

The Human Genome Project, the international effort to map out the entire sequence of human DNA completed in 2003, cost $2.7 billion. Depending on whose metaphor you pick, the $1,000 price point for lab sequencing is akin to breaking the sound barrier or the four-minute mile — a psychological threshold where expectations and, in this case, economics change.

Specifically, a full genomic workup of a person’s three billion DNA base pairs starts to look relatively affordable even for healthy patients. It offers orders of magnitude more information than the so-called SNPs test provided by companies like 23andMe for $99 or so, which just looks at the approximately 10 million “single-nucleotide polymorphisms” that are different in an individual.

With more data, scientists expect to gain greater insights into the relationship between genetic makeup and observable characteristics — including what genes are implicated in which diseases. Among other things, it should improve our understanding of the influences of DNA that doesn’t directly code proteins (once but no longer thought of as junk DNA) and create new research pathways for treatments and cures.

“The $1,000 genome has been the Holy Grail for scientific research for now over a decade,” Flatley said. “It’s enabled a whole new round of very large-scale discovery to get kicked off.”

Cost breakdown for Illumina’s $1,000 genome:

Reagent* cost per genome — $797

Hardware price — $137**

DNA extraction, sample prep and labor — $55-$65

Total Price = $989-$999

* Starting materials for chemical reactions

** Assumes a four-year depreciation with 116 runs per year, per system. Each run can sequence 16 genomes.

Source: Illumina

Some have questioned the $1,000 claim, with Nature noting research centers have to buy 10 systems for a minimum of $10 million — and that the math requires including machine depreciation and excluding the cost of lab overhead.

But Flatley defended the figure, saying it’s impossible to add in overhead since it will vary at every research facility.

“Our math was totally transparent and it is exactly the math used by the (National Human Genome Research Institute),” he said. “It’s a fully apples-to-apples comparison to how people have talked historically about the $1,000 genome.”

He also questioned the conclusions of a recent study published in the Journal of the American Medical Association, where researchers at Stanford University Medical Center compared results of adults who underwent next-generation whole genome sequencing by Illumina and Complete Genomics, the Mountain View, Calif., company acquired last year by BGI.

They found insertions or deletions of DNA base pairs only concurred between 53 percent and 59 percent of the time. In addition, depending on the test, 10 percent to 19 percent of inherited disease genes were not sequenced to accepted standards.

“The use of [whole genome sequencing] was associated with incomplete coverage of inherited disease genes, low reproducibility of detection of genetic variation with the highest potential clinical effects, and uncertainty about clinically reportable findings,” the researchers wrote.

Or as co-author Euan Ashley put it to me: “The test needs some tough love to get it to the point where it’s clinical grade.”

Flatley responded that the sample size was small and that the sequencing platforms were several years old. But he did acknowledge they are still grappling with technology limitations.

“What’s hard is to determine whether there’s a base inserted or deleted,” he said. “That’s abioinformatics problem, not a sequencing problem. That’s a software issue that we and others and the whole world is trying to work on.”

But, he stressed, that shortcoming doesn’t undermine the value of what the tests doread accurately.

“There are many, many, many things where it’s clinically useful today,” he said.

Flatley pointed to several areas where we’re already seeing real-world applications of improving sequencing technology, including cancer treatments targeted to the specific DNA of the tumor rather than the place where it shows up in the body. There are also blood tests under development that can sequence cancer cells, potentially avoiding the need for biopsies, including one from Guardant Health.

Another promising area is noninvasive prenatal testing, which allows expecting parents to screen for genetic defects such as Down syndrome through a blood draw rather than an amniocentesis procedure.

The technology can delineate the DNA from the fetus circulating within the mother’s bloodstream. It’s less invasive and dangerous than amniocentesis, which involves inserting a needle into the amniotic sac and carries a slight risk of miscarriage. Because of that risk it’s generally reserved for high-risk pregnancies, including for women 35 and older.

Illumina, which offers the blood screening for out-of-pocket costs of around $1,500, recently funded a study published in the New England Journal of Medicine that found the so-called cell-free fetal DNA tests produced more accurate results than traditional tests for Down syndrome and Trisomy 18, a more life-threatening condition known as Edwards syndrome.

“It gives some earlier indicators to women in the average risk population if their babies have those problems,” Flatley said. “I think that it will broaden the overall market, and there are other tests that can be added over time.”

But there are ethical issues that arise as prenatal genetic tests become more popular and revealing, including whether parents will one day terminate pregnancies based on intelligence, height, eye color, hair color or minor diseases.

For that reason, Illumnia refuses to disclose those traits that are decipherable in the genome today.

But Flatley said they couldn’t stop purchasers of its machines from doing so, nor competitors like BGI of China (for more on that issue see Michael Specter’s fascinating profile of the company in the New Yorker ). Flatley said there needs to be a public debate on these issues, and he expects that new laws will be put into place establishing commonsense boundaries in the months or years ahead.

“This isn’t something we think we can arbitrate,” he said. “But we won’t be involved directly in delivering [results] that would cross those ethical boundaries.”