- Details
Our objective is to understand the goals people have in seeking out genetic testing, and the impact of receiving the results.
—Dr. Anita DeLongis
Director, Centre for Health and Coping Studies
The University of British Columbia
Update 27 Sep 2019 — As of today, the scope of the UBC study has opened to those who have taken an at-home DNA test in the past. Participation by new test-takers is still encouraged, but all who have taken any popular direct-to-consumer DNA test are now welcome.
Are you planning to purchase, or have recently purchased, a direct-to-consumer DNA test? The University of British Columbia recently reached out to me seeking participants in a new study. It's free, completely confidential, and consists of two easy surveys.
You can learn more, and begin your participation, at this link to the study at the UBC website.
To date, over 27 million people have taken direct-to-consumer DNA tests, and the reasons for doing so are varied and multifaceted. My first at-home cheek-swab was in 2002 as part of a yDNA study being conducted at Washington State University. That rekindled a background in the biological sciences that had lain dormant for a number of years. Subsequently, I have had my DNA tested—in either new tests or upgrades—a total of 18 times and am currently awaiting the results of a 30X Whole Genome Sequencing.
My motivations for testing, and what I've gleaned from it, are almost certainly different than yours. In fact, there's likely enough nuance in the individual intent/result spectrum that few of us may have identical experiences.
There is a great interest today in direct-to-consumer genetic testing. We have heard from many people about results that surprised and delighted them, as well as from others whose DNA revealed family secrets that caused distress. Our objective is to understand the goals people have in seeking out genetic testing, and the impact receiving results has on individuals and their families. We want to engage with people as they move through the process of deciding to submit their DNA, through to how they feel when they get their results, to the impact when they share their results with friends and family. Participating in our study is completely confidential, and results will only be shared with the scientific community and the public in aggregate, only in groupings of participants. We never share findings about a particular individual.
—Dr. Anita DeLongis
In the span of little more than two decades, DNA testing technologies have gone from tedious sequencing of only handfuls of genetic markers, to USD$59 tests that look at over 670,000 SNPs (single nucleotide polymorphism), to what will be, I believe, the dawning of low-cost whole genome sequencing by or before 2023.
The applications today include far-more-accurate sequencing of ancient remains, helping the disciplines of archeology, anthropology, and genetics meld together to help us better understand the history of our species; a tool for genealogy unlike any other, helping reveal information that the documentary paper-trail lacks, or even obfuscates; and continually-improving insights into the effects of genetics and epigenetics on our health and wellness.
As one of the world's top research universities, for more than a century the University of British Columbia has created positive change in Canada and abroad. Today, centered on two major campuses—the Vancouver Campus and the Okanagan Campus—it attracts more than 58,000 students from Canada and 140 countries. UBC is consistently ranked among the 40 best universities globally, and now places among the top 20 public universities in the world.
- Details
Why the urgency with Ancestry? Well, we're due for an AncestryDNA shake-up very, very soon.
—24 June 2019
Update 15 Oct 2019 — Today Ancestry.com officially launched AncestryHealth, entering into the individualized health and medicine arena and competing with their closest rival, 23andMe. AncestryHealth is an offering of two distinct products, one called AncestryHealth Core and the other AncestryHealth Plus, which includes a membership component. For people who have an existing test with Ancestry, the price is a one-time $49 to include AncestryHealth Core, and $98—which includes six months of membership—for AncestryHealth Plus. Both products seem to be completely independent of the genealogy products, and the testing and reporting seem in no way to be linked. Information can be viewed at the Ancestry.com website at www.ancestry.com/cs/health.
Last June I wrote about my opinion that Illumina has probably set a final end-of-life deadline on the OmniExpress chip—the genotyping microarray that the majority of extant results for genealogy have been tested on—and what this might mean for AncestryDNA, the only major company left selling tests based on the OmniExpress chip. Let me quickly state that I have no insider information whatsoever about either Ancestry.com LLC or Illumina, Inc. My opinions are formed only by industry observation and deduction.
I received a few emails about that article noting one line in particular seemed a bit extreme: "Why the urgency with Ancestry? Well, we're due for an AncestryDNA shake-up very, very soon."
Over the past few days, though, we've seen new information which seems to support my previous prediction, and provides a broader backstory to Ancestry's current situation.
Only 20% in Common
That June post was specifically about what I felt to be Ancestry's imminent switch from the OmniExpress to the GSA (Global Screening Array) chip and how it potentially affects our genealogical research. I don't want to repeat any of that article, but the crux of the issue is that all genotyping microarray chips look only at a select set of genetic markers that amount to about 0.02% of our entire genome, and correspond to about 10% to 15% of the 4 or 5 million SNPs (single nucleotide polymorphisms) that are distinguishing within any one of our particular genomes. From that subset, the OmniExpress and GSA chips test only about 20% of the same markers...or roughly 0.004% of our genome.
For genealogy, our concern is not knowing which nucleic acids—or more technically, nitrogenous bases—exist at all of our 3.2 billion base pair loci; it's about how one set of test results compares to another. That's how we can evaluate relatedness and build evidence for our family trees. But there are a very limited number of options when it comes to comparing such a small, in-common set of data. These include modifying minimal baseline matching thresholds, the approach GEDmatch has taken, and genomic imputation, i.e., assigning a value to something, by inference only, based upon seeing only pieces of that something. Neither of these options is particularly accurate for genealogy, where we may be trying to provide evidence for a 4th great-grandparent MRCA by triangulating a small chromosomal segment shared by several 5th cousins.
Reasonable speculation is that roughly 29 million people have been DNA tested by genotyping microarray chips, and as many as 20 million of those tests have been done on the OmniExpress chip. AncestryDNA, since it truly took off as a market force, has used nothing else.
Before continuing, I want to be very clear that I, personally, don't feel that AncestryDNA's operations are under any immediate threat. They are not going out of business, and I have just purchased five new test kits for relatives so that they can get the OmniExpress set of results before the chip is retired.
That said, there are several factors in play at Ancestry—some for which it may or may not be reasonable to have expected senior management to have predicted and taken preemptive measures to shift strategy and mitigate risk—and none of those factors are particularly good.
The Ancestry Marketing Model
This will inevitably jump around a bit, but let's start with my opinion of Ancestry's marketing and advertising tactics circa 2016 to present. Perhaps we should say through the beginning of 2019 because, if we follow the ad placements, the "lederhosen or a kilt" ethnicity model was essentially Ancestry's sole push for two years...and they peppered network and cable television with it. We seemingly couldn't watch any channel for longer than 20 minutes without seeing one of those commercials.
And it worked spectacularly well. So well that others, like 23andMe and Family Tree DNA, felt the need to begin focusing (some) of their own marketing on the ethnic origins component. You've seen those commercials all but vanish in 2019, and we'll circle back to that later.
Ancestry's core business is subscription based: its excellent collection of digitized records and online family trees. And the subscription-based model is a tried and true evergreen revenue generator; we've even seen computer application services like Microsoft's Office 365 and Adobe's Creative Cloud change from buy-it-once to subscribe-and-keep-paying models. I'm certain that the planning assumption at Ancestry was that this "DNA ethnic origins" target market would uncover untapped hundreds of thousands who would become fascinated by genealogy and convert to subscribing members.
- Details
It's a riddle that scores of websites will try to solve for you: which DNA test should you buy? But today's answer may surprise you.
How much advertising money is spent trying to convince you one DNA test is better than another? How many websites and "experts" will break it down for you—usually starting with accuracy of ethnicity predictions—and tell you which test you should buy?
Truth is, the only rational response from someone truly informed about genetic genealogy will sound like a corporate consultant: "It depends." But there's a good reason for that. Our currently popular, over-the-counter autosomal DNA tests are remarkably similar in the lab; there really are only three major variants. Choosing a test is more about personal goals and objectives, portability, comparison and analysis tools, where other family members have already tested, and the list goes on.
I usually don't reply to public questions about which test to buy. If asked privately, I'll start with, "It depends," and then dive into the list of considerations. Today, though, the matter came up and I broke my own pattern. I provided an explicit answer about which test, for a first-time buyer, I would recommend right now. As in today.
My response has nothing to do with any of the usual suspects (e.g., ethnicity pie charts, eye color prediction), and I thought it might be worthwhile sharing it here.
The net message first: 1) My prognostication is that Whole Genome Sequencing (WGS) will completely supplant our current microarray genotyping tests for genealogy by 2022 or so. But I wouldn't wait for that to happen. Leading to, 2) If the funds are available, I would get an AncestryDNA test as soon as possible, then consider also taking a test from 23andMe, MyHeritage, Family Tree DNA, or Living DNA.
Why the urgency with Ancestry? Well, we're due for an AncestryDNA shake-up very, very soon.
It all has to do with those little microarray, microscope-slide-looking things that are programmed to attract our nucelotides to line-up in specific places so that a small part of our genome can be digitized.
At issue is the "Intel" of DNA testing companies, a manufacturer called Illumina. Right now, we have about 29 million people who have taken direct-to-consumer autosomal DNA tests. Of those tests, roughly 20 million or so have been performed using Illumina's OmniExpress chip; the next largest chunk were done on Illumina's Global Screening Array, or GSA, chip; and a small percentage use a chip made by Illumina's only real competitor, Thermo Fisher Scientific.
With no fanfare, and a seemingly successful exfil/infil unbeknownst to many genealogists, Family Tree DNA switched from the OmniExpress to the GSA chip last April. And, ta dah!, the Family Tree DNA lab does the testing for MyHeritage...which means that MyHeritage switched chips at the same time.
AncestryDNA is the only testing provider, large or small, that still processes samples on the OmniExpress chip. Why? Illumina had intended to retire the chip long before now. In fact, when Living DNA first began planning its operational debut circa mid-2016 they were advised by Illumina that the OmniExpress chip would soon no longer be available, so they went with the GSA chip from the outset (subsequently, as of November 2018 Living DNA became the first, and so far only, tester to use the Thermo Fisher Scientific Affymetrix chip). And on 5 September 2017, Roberta Estes wrote on her blog that Illumina "has obsoleted their OmniExpress chip previously in use, forcing companies to utilize their new Global Screening Array (GSA) chip when their current chip supply runs out."
That didn't happen, but it also didn't mean that Illumina had changed its mind about retiring the chip. That retirement is happening now. We can speculate that the unprecedented (and unexpected) explosion in direct-to-consumer testing spurred by Ancestry's lederhosen-for-a-kilt advertisements persuaded Illumina to postpone the inevitable for a time. But while genealogy may not be quite a rounding error to Illumina's bottom line, it doesn't represent a large share of their earnings. For Q4 2018, Illumina booked $867 million in revenues; revenues for fiscal year 2018 were $3.33 billion. The entirety of their microarray chip business makes up about 12% to 14% of that, the genealogy market being only a portion of that percentage, and the OmniExpress chip a portion of that portion. Add to that some slippage in the growth rates of DNA test sales beginning around April 2018 (see the latest DNA database numbers and analysis from Leah Larkin). Manufacturing a microarray chip that it has "tooled down" and wants to retire is costing Illumina substantially more money and resources to continue to produce and support than does the newer GSA chip.
Bottom line: the OmniExpress chip is going away. Completely. AncestryDNA will be (is currently being?) forced to make a very significant decision, and they really have only the two choices: switch to Illumina's GSA chip, or join Living DNA and go with Thermo Fisher Scientific. Either way, I believe the change will be made before the end of this year, if not by the fourth quarter.
Okay. So why is this a big deal to us? Both tests are accurate, both tests provide good, solid data.
- Details
'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'
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
- Details
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."
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."
- Details
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
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.
- Details
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.
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.
- Details
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
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.
- Details
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.
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.
- Details
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
- Details
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
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
