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

'Woj' is the nickname coined by her students decades ago, but monikers others have given her include 'The Godmother of Silicon Valley' and 'the Real Mother of Dragons'

Esther Wojcicki
Esther Wojcicki, the mother other mothers are reading to see how to raise remarkable children

With eternal gratitude, a very happy Mother's Day wish to all the mothers out there. Because, after all, without you we wouldn't have any mitochondrial DNA...and, well, we wouldn't be here at all.

This short post, though, is about a mother I've never met, but wish I had. And, yes, there's a genetic genealogy connection beyond mtDNA donation.

Esther Wojcicki (pronounced, roughly, wuu-CHIT-skee), the eldest of three children, was born Esther Denise Hochman in New York City. The family moved to California after her birth, and Esther received baccalaureates in both English and Political Science from UC Berkeley, and from the same school secondary teaching credentials and an M.A. in Journalism. She also holds an advanced degree in French and French History from the Sorbonne, Paris, and an M.A. in Educational Technology from San Jose State University.

She says that journalism has always been in her blood, but the reason she became a teacher was because it was too far for her to drive from her home—with husband Stanley Wojcicki, professor of physics at Stanford University, and her three children—in Palo Alto to San Francisco to be a reporter. Esther thought, "If I can't be a journalist, why not just teach journalism?"

She began teaching at Palo Alto High School in 1984, where she founded the Media Arts programs at Palo Alto High School, taught and mentored many of Silicon Valley's brightest including Steve Jobs' daughter, Lisa Brennan-Jobs, and helped launch the Google Teachers Academy. The journalism program at Palo Alto High has grown to become one of the largest such high school programs in America. In 1990, Esther was named Northern California Journalism teacher of the year, and in 2002 was named California Teacher of the Year.

Wojcicki family
An idyllic portrait of the Wojcicki family

She was awarded the Gold Key by Columbia Scholastic Press Association in 2009; she's on the Board of Trustees of the Developmental Studies Center and on the Board of Governors of the Alliance for Excellent Education; she is Chairman of the Board of Learning Matters; she's Chief Learning Officer for Explore Planet3, an exploration based science platform for middle school students. She is on the board of the Newseum in Washington, D.C. and the Freedom Forum; is the founder of the Journalistic Learning Initiative at the University of Oregon; is the founder of the Moonshots in Education Movement; and she has an honorary doctorate from Palo Alto University.

That's an impressive resume. But none of it is what Esther is known for best. What she's best known for is being a mother. Esther has three daughters. They are, alas, a brood of disappointing underachievers, but you may have heard of them anyway:

  • Susan Wojcicki has been the CEO of YouTube since 2014; she was involved in the founding of Google, becoming Google's first marketing manager in 1999. She started her first business at age 11, selling "spice ropes" door-to-door.
     
  • Janet Wojcicki, PhD, MPH, is a Fulbright-winning anthropologist, Assistant Professor of Pediatrics and researcher at the University of California School of Medicine. She has over 60 peer-reviewed research publication credits.
     
  • Anne Wojcicki is the co-founder and CEO of personal genomics company 23andMe; her alma mater is Yale University and she was a researcher in molecular biology at the National Institutes of Health and the University of California, San Diego (and an irresistible bit of Anne trivia: she was a competitive ice skater and played on the Yale varsity women's ice hockey team).
How to Raise Successful People
How to Raise Successful People: Simple Lessons for Radical Results, Houghton Mifflin Harcourt, 7 May 2019, ISBN 978-1328974860

Ergo one of Esther's nicknames being "the Real Mother of Dragons."

This is also a reason why, when Esther Wojcicki talks about parenting, the world listens. And for Mother's Day 2019 Esther has released her latest book: How to Raise Successful People: Simple Lessons for Radical Results.

In a time of increased anxiety and helicopter parenting, Wojcicki's advice on helping your child lead seems to speak for itself. A must-read for parents of children of all ages.
     —Library Journal, Starred review

The foreword to the book is alone worth the price of admission. A collaboration by all three of her remarkable daughters, it offers a very personal glimpse of what it was like to grow up with Esther as a mother, where key themes were "independence, financial responsibility, open-mindedness, fearlessness, and an appreciation for life." Where "at every age, our parents listened and acted like it was a two-way street for learning. We learned to advocate for ourselves, to listen, and to realize we might be wrong."

We three sisters are the original output of our mom's philosophy, but after us came many thousands of students in her journalism program. All around the world we meet people who stop us to say, 'You know, your mom really changed my life. She believed in me.' She doesn't just influence people while they are in her class. She influences them for life.
     —Susan, Janet, and Anne Wojcicki

Happy Mother's Day!

There is only one thing genealogically special about the X chromosome in relation to males: the inheritance pattern. The important distinction is that, in males, the X is "naturally phased."

Human X chromosome

Q: I've been told that if two men share a match on the X chromosome, that special conditions apply. That because they're both male and because they can only have gotten their X chromosome from their mothers, that the match means more than matches on other chromosomes do. I've seen matching that indicate a very small amount of shared DNA on the X chromosome, for two males only, can be used as confirmation of the relationship and no other DNA information is needed. That just doesn't sound right to me, and I wanted to get your thoughts.

A: Thanks for writing, and I've seen the same contention about the X chromosome in different places. I'm uncertain how that myth first started, but your impression—and discomfort with the claims—is well-founded.

Prove and Confirm

First, though, let's talk a moment about that word "confirmation." We do see it used in reference to genetic genealogy and, in my opinion, much too liberally so. The verb "confirm" has different meanings based on the circumstances or environment to which it's being applied, but let's look at what Google presents us at the top of its search results for the word:

General Definition of Confirm

Establish the truth or correctness of something previously believed or suspected; state with assurance that a report or fact is true.

In her indispensable book, Evidence Explained: Citing History Sources from Artifacts to Cyberspace, my genealogy totem spirit and guide, Elizabeth Shown Mills, defines "confirm" this way:

confirm: to test the accuracy of an assertion or conclusion by (a) consulting at least one other source that is both independently created and authoritative; and (b) finding agreement or compatibility between them.
     —Elizabeth Shown Mills

Note the conjunction and in Elizabeth's definition: for genealogy, both conditions a and b must be met, not either/or. Note also the phrase "independently created and authoritative."

Evidence Analysis Process

A digression—tangential though pertinent—but while I'm mentioning Evidence Explained I'd be remiss if I didn't call attention to the inside cover of the book, where Elizabeth gives us a simple and intuitive diagram of her Evidence Analysis Process Map. The image below (click to enlarge) is from her website, "QuickLesson 17: The Evidence Analysis Process Map". It isn't lengthy; I suggest it be in everyone's bookmarks list.

However, all genealogists, including applicants, need to make sound decisions about when DNA can or should be used, and any work products that incorporate it should meet the new standards and ethical provisions.
     —Richard G. Sayre, President, BCG

BCG
Founded in 1964 by leading American genealogists, BCG fosters public confidence in genealogy as a respected branch of history. Click the image above to visit the BCG website and learn more.

The following public press release is not yet published on the BCG website, bcgcertification.org, but I expect it will be tomorrow. I am posting it here—admittedly redundantly since it will be on the BCG website and all the genealogy blogs almost instantly—because I have a very brief tangential preface, and because this simply is big news.

Update: the BCG posted the press release on its website early Sunday morning, 28 October. You can view it at bcgcertification.org/standards-for-dna-evidence.

Many thanks to Blaine Bettinger for bringing this to our attention quickly on his Facebook Genetic Genealogy Tips & Techniques Group. Blaine has been working with and advising the BCG on this effort.

Tangent

In a recent and, as it proved to be, controversial post, I described that I have been an advocate of a formal method of accreditation for genetic genealogists. I'm afraid I described that position poorly, and also did not take into account the audience majority who have not been, in their careers, accustomed to the variety of professional, trade, compliance, and instructional certifications common in my business experience.

I am long overdue for a follow-up attempt to clarify my position, but I need to be clear: this is not that update, and the type of accreditation I was speaking of is unrelated to this announcement from BCG and its important press release about its new DNA standards. In my September post I intended to reference a type of specialty certification; for example, perhaps analogous to the American Board of Medical Specialties or their Focused Practice Designation program.

BCG's work is providing guidance and certification for genealogists. I can think of only two genealogists I've spoken with in the past year who do not believe DNA is now a vital element in evidentiary practice for genealogy. I was one of those who provided comment earlier this year to BCG regarding development of these new standards, knowing full well that the type of accreditation I've had in mind for a few years is beyond BCG's scope. They do not certify geneticists; they certify genealogists.

I want to thank BCG and all those who actively participated and advised on this effort. I consider this a very important development for the practice of genealogy. Even if you have no immediate interest in pursuing BCG certification, I believe the guidance offered is a benchmark for all genealogists. The new standards to be published in March 2019 will be included in a new edition of BCG's Genealogy Standards. I'm sure the current 50th Anniversary Edition of Genealogy Standards is already on your bookshelves.

For Immediate Release 27 October 2018

News Release, Board for Certification of Genealogists

Board for Certification of Genealogists Adopts Standards for DNA Evidence

On 21 October 2018, the Board for the Certification of Genealogists (BCG) approved five modified and seven new standards relating to the use of DNA evidence in genealogical work. BCG also updated the Genealogist's Code to address the protection of people who provide DNA samples.

The new measures are intended to assist the millions of family historians who now turn to genetic sources to establish kinships. The action followed a public comment period on proposed standards released by BCG earlier this year.

"BCG firmly believes the standards must evolve to incorporate this new type of evidence," according to BCG President Richard G. Sayre. "Associates, applicants, and the public should know BCG respects DNA evidence. It respects the complexity of the evidence and the corresponding need for professional standards. BCG does not expect use of DNA to be demonstrated in every application for certification. However, all genealogists, including applicants, need to make sound decisions about when DNA can or should be used, and any work products that incorporate it should meet the new standards and ethical provisions."

Virtually all of the more than 17 million direct-to-consumer autosomal DNA tests have been performed on microarray BeadChips made by Illumina. Living DNA opened their doors using the Illumina GSA chip, but are now the first major-tier DTC tester leaving Illumina.

Note: information updates obtained after this article was published are posted at the bottom of the page and we will attempt to add salient information as it becomes available.

Microarray

Living DNA announced yesterday, 22 October, that they are moving away from the Illumina GSA (Global Screening Array) genotyping array microchip they have used since the company opened, opting instead for an offering from Thermo Fisher Scientific under its Affymetrix brand, acquired by Thermo Fisher Scientific 31 March 2016. Living DNA is the first major direct-to-consumer (DTC) autosomal DNA testing company to cease using Illumina, and we can only make educated guesses at the reasons.

The industry has been watching closely for many months to see what the introduction of Illumina's GSA chip would mean to the genealogy marketplace.

People tend to hold overly favorable views of their abilities in many social and intellectual domains.... This overestimation occurs, in part, because people who are unskilled in these domains suffer a dual burden: Not only do these people reach erroneous conclusions and make unfortunate choices, but their incompetence robs them of the metacognitive ability to realize it.
     —David Dunning and Justin Kruger,
         Journal of Personality and Social Psychology,
        1999 Dec;77(6):1121-34

Dunning-Kruger Effect
Image courtesy of YLMSportScience

This will be somewhat of a departure in content: I have a serious point to make, then I need some cathartic comedy time. Welcome to the ride.

I'm sure most of you are familiar with the Dunning-Kruger Effect. Since its proposal as a theory in 1999, it's been borne out in multiple studies—more than 100 to date—across varying environments. In a nutshell, what it tells us is that we're not very good at evaluating our own levels of knowledge and skill. Illusory Superiority: we judge ourselves as being better than others to degrees that violate the laws of mathematics.

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.

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

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

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.