Counting Chromosomes
A blog of random musings on genealogy, genetics, science, and history

The first five months of 2018 we went from 12 million direct-to-consumer DNA testing kits sold to about 17 million, an average of 1 million new kits per month. The extrapolated growth trend may slow, but it's still within reason that we might see 10 million tests sold through the course of 2018.

DNA Testing Update
Graph by Antonio Regalado, Senior Editor, MIT Technology Review. Click image to view at full size.

New data are in, and business is positively booming. Antonio Regalado, Senior Editor for the MIT Technology Review, has been keeping tabs on testing trends since at least 2016, and he posted this updated chart August 6.

These numbers aren't yet affected by GDPR because they run through the month of May; GDPR went into effect May 25. The Golden State Killer genetic genealogy brouhaha surfaced last April, so the trend might also be blunted somewhat by new privacy concerns. Time will tell.

At the beginning of 2018 we were indicating that about 12 million direct-to-consumer DNA tests had been sold, up from about 5 million as of January 2017, a 140% increase. As an averaged trend, we were selling about 583,000 test kits each month. I may not be a fan of the kilt or lederhosen "ethnicity" advertising, but it obviously works.

The first part of 2018 blows that performance out of the water. We went from 12 million kits to about 17 million, or an average of right at 1 million kits sold per month. I personally do expect the extrapolated growth trend to slow, but it's still within reason that we might see 10 million tests sold through the course of 2018. If that's the case, there would be as many tests sold in 2018 as there were in total from the opening of Family Tree DNA all the way through mid-year 2017!

The other thing the chart illustrates is just how rapidly the catalogs of data are accumulating. Just five years ago, in 2013, the numbers are barely a blip on the chart. Makes those of us who have been around genetic genealogy for a decade-and-a-half feel positively ancient. Speaking of ancient...

I have no source for numbers, but we're seeing a not dissimilar trend in peer-reviewed scientific studies of anthropology and population genetics. Huge technological changes—both hardware and software—have been going on in the background at companies like Illumina that make HiSeq sequencing of genomic data from small, ancient, and degraded samples possible, and at lower costs to institutions and universities than ever. David Reich, author of the excellent new book Who We Are and How We Got Here: Ancient DNA and the New Science of the Human Past, estimates that since the early 2000s the cost of analyzing ancient genomes has come down over 10,000-fold.

There is always a significant time lag from study conception and proposal to peer-reviewed publishing, but we began to see important new work start coming in around 2013 and 2014, and the rate of publication has been steadily escalating, so much so that I now have Google Alerts set to search for new pre-prints and papers on a daily basis to help me keep up. Some of these can't be included via the news aggregator service for The Tribune, but some, general-interest papers do find their way to that daily newspaper.

Back on the consumer homefront,

Market Research

If you follow genealogy and genetics news like I do, no doubt you have seen—multiple times over the past few weeks—notification of a market study from a company based, I believe, in India called Absolute Reports. The report is titled "2018-2025 Genealogy Products and Services Report on Global and United States Market, Status and Forecast, by Players, Types and Applications."

Sounds intriguing, doesn't it? It was published 22 June 2018; I first saw it advertised in July, and it is offered for the price of US$3,600 for a single-user license with the option to receive a limited, redacted preview. You can view a safe description of the study at Absolute Reports' website.

It remains unclear to me whether Absolute Reports is solely a reseller of externally prepared market reports, or whether they write any of the studies themselves. Regardless, the sample copy of this seven-year genealogy industry forecast that I received contained no attribution of authorship. In fact, section 15.4, "Author List," was redacted of all names or contact information. The only notice of copyright anywhere in the 79-page document (advertised as being 117 pages) is in section 15.3, "Disclaimer": "All trademarks, copyrights and other forms of intellectual property belong to their respective owners and may be protected by copyright."

The beginning of that particular section is, I believe, crucial to understanding the value of the report: "The information and opinions in this report were prepared by [REDACTED]. The information herein is believed to be reliable and has been obtained from authentic public sources.... [REDACTED] research and analysis publications consist of the opinions of [REDACTED]'s research and should not be construed as statements of fact. [REDACTED] disclaims all warranties, expressed or implied, with respect to this research, including any warranties of merchantability or fitness for a particular purpose."

The redactions in this instance are not mine, but represent areas left blank in the sample report itself.

The summary of the report reads:

This report studies the global Genealogy Products and Services market, analyzes and researches the Genealogy Products and Services development status and forecast in United States, EU, Japan, China, India and Southeast Asia. This report focuses on the top players in global market, like:

  • DNAPrint Genomics, Inc. (USA)
  • Familybuilder (USA)
  • Family History Library
  • Family Tree DNA (USA)
  • Sorenson Molecular Genealogy Foundation (USA)
  • Ancestry.com (Formerly known as Generations Network, Inc.)
  • Genealogy.com
  • MyFamily.com
  • RootsWeb.com
  • WorldVitalRecords (USA)

Your own sense of the current genealogy and genetics marketplace no doubt has you tilting your head at that list of companies for focused research. The listing I received in the copy of the sample report was different, but not really any less brow-furrowing:

The goal of the collaboration is to gather insights and discover novel drug targets driving disease progression and develop therapies for serious unmet medical needs based on those discoveries.
     —GlaxoSmithKline

GlaxoSmithKline
GlaxoSmithKline headquarters,
Brentford, London, UK

UK-headquartered Big Pharma company GlaxoSmithKline (GSK) has invested $300 million (£228 million) for an equity stake in direct-to-consumer DNA testing company 23andMe. The official GSK press release describes the investment as a "multi-year collaboration expected to identify novel drug targets, tackle new subsets of disease and enable rapid progression of clinical programmes."

The GSK press release highlights three primary goals of the collaboration; quoting:

  • Improve target selection to allow safer, more effective "precision" medicines to be discovered. Genetic data can significantly improve our understanding of diseases, their pathways and mechanisms, supporting the design and development of more targeted medicines. Use of genetic data in selecting drug targets can increase both the probability of success in a particular indication and avoid unwanted safety risks.
     
  • Support identification of patient subgroups that are more likely to respond to targeted treatments. Scale is critical for the detection of genetic effects in smaller subsets of diseases and patients. With over 80% of 23andMe's customer base consenting to participate in research, their aggregate and de-identified data could help enable the discovery of a significant number of novel associations from a diverse range of people, which would not otherwise be possible.
     
  • Allow more effective identification and recruitment of patients for clinical studies. The ability to identify and invite patients with a particular disease, and in some case specific genetic subgroups, to participate in studies that are relevant to them could significantly shorten recruitment and reduce clinical development timelines, allowing medicines to be delivered to patients more efficiently.

The four-year collaboration agreement gets top-billing in information released by both 23andMe and GlaxoSmithKline, but a not insignificant element of the arrangement is the $300 million equity stake in the DNA testing company that GSK is purchasing. That healthy outlay is described only by this short sentence: "Additionally, GSK has made a $300M equity investment in 23andMe."

The announcement came today in conjunction with GSK's second-quarter earnings results. The information didn't—at least not immediately—sway investors favorably. The FTSE closed its trading day with GSK down 14.4 points, or 0.92%.

However, the 23andMe hard-currency investment is in reality but a blip on GSK's radar. Their Q2 results reported slightly weaker growth than expected, with group sales in aggregate rising 4%. The weakest of the sectors was pharmaceuticals, showing 1% growth, compared to 3% in healthcare and 16% in vaccines. Included in the report was an announcement of plans to spend $2.24 billion over the next three years to reduce overhead costs in supply chain and administration by $527 million.

Spearheading the 23andMe arrangement for GSK was Dr. Hal Barron, Chief Scientific Officer and President of R&D. Dr. Barron is a recent acquisition by GSK, having stepped into the role just last March. Dr. Barron received his medical degree from Yale and has a B.S. in engineering physics from Washington University.

GSK's CEO is also relatively new to the company. The just-turned 49-year-old Emma Walmsley (daughter of Vice-Admiral Sir Robert Walmsley and Lady Christina Walmsley, née Melvill), has had a rapid rise at GSK since joining the company in 2010. In April 2017 she took over as CEO after the retirement of Sir Andrew Witty, an event that some observers viewed less as an expected transition than a shake-up. This made the capable Walmsley the first woman ever to run a major pharmaceutical company.

That both GSK and 23andMe have strong women at at the helm might be less of a precursor to this new collaboration than one other associative tidbit. Prior to joining GSK, Dr. Barron was president of research and development at Calico, a biotech firm founded September 2013 by Bill Maris. Maris is the founder and first CEO of Google Ventures, and Calico is a Google Ventures-funded enterprise. In 2015, Google restructured itself into Alphabet Inc., and Calico—along with Google itself and several other properties—became a subsidiary of the new corporation.

In August 2016 Google, as Alphabet Inc., invested $715 million over a seven-year period with GlaxoSmithKline to form a new biotechnology company called Galvani Bioelectronics. The new enterprise ownership is 55 percent owned by GSK and 45 by percent Google.

Taking the two precedents cited by Ancestry.com in their motion of dismissal, it seems their platform is that neither natural phenomena nor abstract ideas are patentable unless there is a new, additional, inventive concept involved. Maybe we'll end up with the "do it on a computer" argument, and the "DNA is DNA" argument.

Court of Law
Invoking two Supreme Court precedents, Ancestry.com files for dismissal

This week, Ancestry.com responded to the lawsuit from 23andMe by filing a motion to dismiss with a California federal court. The filing indicated the 23andMe patent consisted of "abstract and non-inventive steps" of collecting two DNA samples and then comparing them to find a correlation based on phenomena that occur naturally. The U.S. Patent in play is number 8,463,554, titled "Finding Relatives in a Database," issued 11 June 2013.

The lawsuit was filed May 12 by 23andMe demanding, among other things, payment for damages and invalidation of the "Ancestry" trademark. An article at Law360 said, in part:

The European Parliament will now be able, in an open debate, to improve the text and defend freedom of expression ahead of the next elections.
     —Diego Naranjo, Senior Policy Advisor at EDRi

Next Steps from the EDRi
Infographic from EDRi, the European Digital Rights organization

I wrote recently about the sea of criticism mounting against the Orwellian proposal by the EU for a "Directive on Copyright in the Digital Single Market" (see "Will the Proposed EU Copyright Directive Irrevocably Damage the Internet?" and "Controversial Copyright Proposal Passes First Step in European Union Parliament"). Yesterday, July 5, Members of the European Parliament (MEP) voted by a slim margin of 318-278 to remove from its Committee on Legal Affairs (JURI) the mandate to negotiate with the EU Council the proposed copyright directive as it is currently written.

In a plenary vote yesterday, 20 June 2018, the Legal Affairs Committee (JURI) of the European Union Parliament voted for a proposed copyright directive as presented, which includes measures to monitor, filter, and control—if not outright censor—uploads to the Worldwide Web. In an article titled "Will the Proposed EU Copyright Directive Irrevocably Damage the Internet?" I commented a few days ago on the highly controversial proposal for a "Directive on Copyright in the Digital Single Market," EU Interinstitutional File: 2016/0280 (COD).

EDRi Infographic
Infographic by the European Digital Rights (EDRi) organization, click image to view actual size

Considering the number of voices raised in opposition to the proposal, it is surprising to many that the current text passed without further alteration or amendment. In particular, Chapter 2, Article 13 (pages 56 through 60 of the 66-page proposal) is drawing dire warnings from many open-information notables. In essence, it will require that that providers of web services be responsible and liable for pre-screening everything people post online to make certain none of it potentially infringes on copyrighted material.

There is no such thing as an "international copyright" that will automatically protect an author's writings throughout the world. Protection against unauthorized use in a particular country depends on the national laws of that country. However, most countries offer protection to foreign works under certain conditions that have been greatly simplified by international copyright treaties and conventions.
     —the United States Copyright Office

Handcuffed at Keyboard

Just as we were all getting over the serious and painful surgery on May 25 that was enactment of the GDPR (General Data Protection Regulation), we have a new issue on the immediate horizon. Just three days from now, June 20-21, at the European Parliament meeting in Brussels, up for an initial vote on plenary approval is the controversial "Directive on Copyright in the Digital Single Market," EU Interinstitutional File: 2016/0280 (COD).

In particular, Chapter 2, Article 13 (pages 56 through 60 of the 66-page proposal) is drawing not only ire, but some dire warnings

To recap: About 9:00 p.m. EST on June 4, MyHeritage announced that a data breach of their systems had been discovered that affects 92.3 million accounts, users who had registered at MyHeritage up to and including the date of the breach, 26 October 2017.

Internet Security
The data breach affects all MyHeritage user accounts created before 27 October 2017

Summary of Events

About 9:00 p.m. EST on June 4, MyHeritage announced that a data breach of their systems had been discovered that affects 92.3 million accounts, users who had registered at MyHeritage up to and including the date of the breach, 26 October 2017. Approximately eight hours earlier, an independent security researcher notified the company that he had discovered a file "on a private server outside of MyHeritage" that contained the email addresses and so-called "hashed" passwords of these accounts.

Staggering to comprehend, but the company has stated that "other websites and services owned and operated by MyHeritage, such as Geni.com and Legacy Family Tree, have not been affected by the incident." Further information shows that they have added about 4 million new accounts since the breach

The popular online service for autosomal DNA matching and comparison, GEDmatch.com, has been facing not just pressure from the impending GDPR regulations, but also an unfortunate media backlash.

DNA
Forensic Genealogy is a term now moving into the mainstream media

Interest in and concern about the European Union's General Data Protection Regulation (GDPR), taking effect May 25, has rapidly escalated over the past several weeks, even for U.S.-based organizations, commercial or not. Small genealogy organizations and websites are feeling the pressure, so much so that some, notably Ysearch.org, Mitosearch.org, and WorldFamilies.net, are closing permanently.

The popular online service for autosomal DNA matching and comparison, GEDmatch.com, has been facing not just pressure from the impending GDPR regulations, but also an unfortunate media backlash over how law enforcement are using the tools to focus on investigating cold-case violent crimes. The now month-long media blitz began April 27 when Paul Holes, a retired investigator with the Contra Costa County District Attorney's Office,

Marketing ethnicity/admixture as the primary reason to take an autosomal DNA test is, frankly, a bit disingenuous at best; at worst, it might be interpreted by some as deceptive.

Kilt
Traditional kilt, Scottish Gaelic: fèileadh
first recorded in the 16th century

Q: My AncestryDNA test results came back, and they don't make much sense compared to our family history. My mother's father was Italian. His grandfather came to America from Italy, but I'm not showing anything at all that looks like that side of the family in my results. Should I take another test at a different company?

A: Thanks for the question. You're touching on a matter that is of concern to me, one that I believe is the primary downside to the marketing tack that AncestryDNA employed, that all others had to follow or see their market shares get eaten alive, and for which serious genealogists are paying the price. Marketing ethnicity/admixture as the primary reason to take an autosomal DNA test is, frankly, a bit disingenuous at best; at worst, it might be interpreted by some as deceptive. The whole "traded my lederhosen for a kilt" nonsense.

Red hair and freckles
Her parents both have brown hair. Is that proof DNA skips a generation?

Q: I've been in touch with a gentleman who says that he is related to my deceased father's family line. His family tree shows this—six generations back—but on GEDmatch he doesn't match me, my two siblings, or two known 1st cousins. He told me that DNA will skip a generation, and insists that if I don't match him I'll probably match his son, whose test results, autosomal and Y-chromosome, are pending. I have no male immediate family members to test the Y-chromosome. I know we don't all get the same DNA from our ancestors, but aren't we limited to the DNA of our parents? Nothing new could show up in his son that he doesn't have but that his father, the son's grandfather, did, correct?

A: Assuming the gentleman and his wife aren't related—e.g., their great-grandparents were a case of two brothers marrying two sisters, making them double 2nd cousins and allowing differing autosomal DNA segments to pass down from both lines—you are absolutely correct. Without pedigree collapse in our trees, and relatively recently generationally speaking, there should be no surprises in the son's results. I'm going to digress a moment before addressing the skip-a-generation thing.