Chicken Little or Pogo?

Are you a disciple of Chicken Little or of Pogo?

Most of you will recall that Chicken Little, based on very little evidence, ran to warn her neighbors that the sky was falling. 

This fable does not end well for most of her community who heeded her warning. In the 1823 Danish version (Thiele), we are told the fox, "Raev Skraev runs with them into the wood and eats them one by one." (Wikipedia)

I hope members of the genetic genealogy community are not becoming disciples of Chicken Little every time we hear the term law enforcement and genealogy DNA databases in the same sentence. The issues involved are far more complex than that -- both legally and ethically. Not all of us will arrive at the same answers on such nuanced issues but we can have a very destructive effect on our entire community by sounding off in a manner that risks throwing out our cherished baby because of some allegedly suspicious bath water.


Pogo

In the current debate about the use of genealogical databases by law enforcement, it seems to me that many genetic genealogists are our own worst enemies. We don't want to share our toys. We posit everything as an us versus them dilemma. But, is it really? Walt Kelley in his 1971 Earth Day, comic strip had Pogo famously pointing out, "Yes son, we have met the enemy and he is us." (Wikipedia) 

Are our own sometimes inflammatory and oft repeated comments scaring potential testers away? Those of us who have been part of this community for more than a decade will recall we have always had individuals who were reluctant to test. Some have flat out refused to test because of concerns that "they" would get my DNA on file. This concern did not emerge for the first time when DeAngelo was arrested as a suspect in the Golden State Killer cases. It will continue to exist far into the future. 

Should I test? Should I urge others to test/not test? This is NOT a question for which one universal answer best serves the needs for each and everyone of us all the time and in all situations.



Why do we test DNA?

Although there are may variations, most of us consider testing because we or someone we know has a curiosity about one of the three following questions.

1. From where did my ancestors come? Market research suggests that more half of millennials who test do so for this reason. With this knowledge advertisements on TV target the need to know one's ethnicity. For example, then one would know whether to wear a kilt or lederhosen to the next family gathering.

2. Can knowledge of the information in my genes inform me about health risks for me and/or for my descendants?

Both questions 1 and 2 can be explored without direct one-one comparison of DNA test results. The DNA of the person being tested is being compared only against an aggregate of large groups of other test takers. Results can be received without exposing the test taker to the eyes of other individual takers.

3. Would you like to connect with others who share parts of your genetic heritage? This is true genetic genealogy. True genetic genealogy is a contact sport. The entire purpose is to contact others for the purpose of filling in gaps in our family trees.


Information seeking vs Privacy?

It's more complicated than that. In the interest of full disclosure, I was dealing with these issues long before DNA testing came on the scene. Half a century ago I was a criminal investigator in the United States Air Force for 4 years during the Vietnam War. During that time I came in contact with colleagues at all levels of law enforcement -- local, state and federal. Most of them were dedicated to keeping our communities safe and respecting the rights of all -- guilty or innocent. As with any group there were a few exceptions.

Since then I have spent 35 years as an academic librarian. My ethic as a librarian was to protect the right of individuals to inquire about any topic about which they were curious and to do so in a manner that protected the privacy of the inquirer. During that time I chaired the Professional Ethics Committee of the American Library Committee.

I later created and taught a credit college course called Ethics in the Information Age. It was within the context of that course that I developed the first version the following cartoon to reflect the complex nature of this ethical dilemma of trying to find the right balance between technological possibilities and human values:

The "RIGHT thing to do" shifts as emphasis is placed on different Rights!

Initially the bottom arrow in my cartoon was focused on the need to protect children from certain information -- particularly on the Internet. After 9/11 and the Patriot Act, the focus shifted to National Security. More recently I have localized this to group or community security. 

In exploring these issues there is not a "one size fits all" ethical answer. As I blogged recently,

There is no universal answer that is “RIGHT” for all of us in all situations for all time.

In that same post I summarized the little public opinion information we have available to date. In research published in the respected journal Science, it  appears that as many as 91% of the US general public may be in favor of allowing law enforcement to use genetic genealogy databases to investigate violent crimes and locate missing persons. This positive approval rate drops considerably when there is other motivation.

Perhaps some among us are more likely to play Chicken Little than are the general public. Perhaps Pogo was right.

Perhaps the legal and ethical environment is unformed to give us the guidance we need. The post Golden State Killer cases have not yet been litigated in court and subjected to legal challenge. In a couple of cases the suspect has plead guilty and been sentenced to lengthy prison terms. This does not necessarily indicate where the preponderance of legal opinions will settle.

Ethical standards and legal standards are often in variance. We as a society need to rethink what our standards should be. First we need to consider whether or not we are even asking the appropriate questions.

David Brin on surveillance cameras:

Two decades ago science fiction author and privacy advocate David Brin suggested we tend to look at the privacy issue from the wrong perspective. Although his argument was articulated about surveillance cameras in public places, his arguments apply to our current debate about government access to DNA databases. Back then Brin warned, "The cameras are coming. They're getting smaller and nothing will stop them. The only question is: who watches whom?"

Kevin Drum continued this argument five years ago. He asserted, "Privacy Is Dead. Long Live Transparency!"

Can we save privacy?
I call this the “David Brin question,” after the science fiction writer who argued in 1996 that the issue isn’t whether surveillance will become ubiquitous—given technological advances, it will—but how we choose to live with it. Sure, he argued, we may pass laws to protect our privacy, but they’ll do little except ensure that surveillance is hidden ever more deeply and is available only to governments and powerful corporations. Instead, Brin suggests, we should all tolerate less privacy, but insist on less of it for everyone. With the exception of a small sphere within our homes, we should accept that our neighbors will know pretty much everything about us and vice versa. And we should demand that all surveillance data be public, with none restricted to governments or data brokers. Give everyone access to the NSA’s records. Give everyone access to all the video cameras that dot our cities. Give everyone access to corporate databases. (Full article here)

Chicken Little or Pogo?

I am NOT advocating that we or our surrogates, the DNA testing companies, should open genealogy database to anyone who flashes a badge. I did not open our library circulation records to homicide detectives who wanted to know what one of our college students had been reading even though she was being investigated for killing her husband. It would have been against California law to do so without a properly authorized judicial subpoena. It would also have been against my professional ethic as a librarian who believes that out clients have a right to research and read without fear of intimidation.  

I have no reason to believe that Barbara Rea-Venter and CeCe More have done anything other than a great public service in helping police identify viable suspects in some very horrific criminal cases. However, over the years I'm not sure the same could be said about every genetic genealogist who cozied up to police and appeared to seek the spotlight. 

Are we asking the right questions? Are we helping advance the cause of the genetic genealogy community? Are we the ones who are scaring away potential test takers? Are we establishing ethical guidelines that will help society find the appropriate balance between the various RIGHTS? 

"SNPS still hurt my head"

My cousin wrote "SNPS still hurt my head. Have not spent enough time with them." This is not my high school dropout cousin emailing. This is my PhD research chemist cousin who travels the globe to attend scientific conferences to share findings with fellow cancer researchers. If ySNPs still hurt your head too, you are in good company. 


What the heck are ySTRs?

This is a cousin who long since had tested his ySTRs to 111 markers. He and I match on 110 of 111 ySTR markers. My 5th great-grandfather, Peter Dowell, Sr. (1714-1802), is his 6th great-grandfather. Well maybe this is an opportunity to let him spend some more time wrapping his mind around ySNPs. Maybe, in so doing, I can begin to relieve some of his head pain. Maybe.

All of you who have used census records can relate to how data on ySTRs (short tandem repeats on the Y chromosome) are collected and compared. The locations visited for 12, 25, 37, 67 or 111 ySTR marker tests are not magical. They were picked originally because geneticists knew how to repeatedly and reliably locate them. Also they were thought to mutate just fast enough to be useful for genealogists. That means they are relatively stable for several generations so that men who share enough of them probably share a common patrilineal ancestor in genealogical times. At they same time they mutate frequently enough to differentiate between distinctly different lines of ancestors.

To use a simple example, let us assume that you know there is a village that has either 12, 25, 37, 67 or 111 distinct residences. You send a census taker to visit each residence and determine how many ySTRs reside at each location. In the lab this is what geneticists are doing when they collect data for ySTR comparisons. They sample the number of ySTRs "residing" on the Y chromosomes of men to give us an idea of whether or not those men are closely related. How many generations ago could a common patrilineal ancestor of those men have lived if the two men might be expected to have accumulated the number of variations that are observed in the current test results?

RECONSTRUCTING THE FOUNDER’S 111-MARKER DNA SIGNATURE

[from David R. Dowell, NextGen Genealogy: The DNA Connection, (2015), pp. 33-4.] 

Surname projects can apply these principles to reconstruct more complex descendant trees of family “founders.” In this case the “founder” was Philip Dowell, who appeared in the records of southern Maryland in the 1690s. By that time he was an established tobacco planter. His marriage in 1702 and death in 1733 are well documented, as are many other events in his adult life. However, no birth or christening records have yet been discovered. Although he is reported to have had four sons who passed his Y-chromosome DNA forward, living male Dowell descendants of only three of those sons have been identified and tested.

Five of those descendants have tested to 111 Y-STR markers. One was a descendant of Philip’s first son, one was a descendant of Philip’s second son, and three were descendants of Philip’s third son. The results of these tests were that all five agreed on 101 of the 111 markers. In addition, four of the five (including descendants of at least two of Philip’s sons) shared the same value on all 111 markers. In other words, none of the two mutations of the descendant of the eldest son, the six mutations of the second son, or the single mutations of two descendants of the third son occurred on the same marker. Philip can be assumed to have passed down the marker values that at least four of his five living descendants share because they were passed down through multiple lines that have no common ancestor more recent than him.

Triangulating 111 ySTR markers back to the founder of the Maryland Dowells                       

Since this chart was prepared another Dowell has tested who is a 111/111 match for the reconstructed yDNA signature for the Founder. However, we are still in the process of determining this man's exact line of descent.


What the heck are ySNPs?

While ySTR analysis has helped the Maryland Dowells understand much about their inter-relationships in North America, it has yet to connect them with specific ancestors across the pond. Could ySNP (Single Nucleotide Polymorphisms located along the y-chromosome) analysis help?

As noted above ySTR analysis is all about determining whether or not men share the same number of repeats at predetermined locations along their yDNA. In other words do they match. ySNP analysis can also be at that level as well. If a man is fortunate enough to have a supposed relative who has already been SNP tested, a test of individual ySNPs can be a cost effective method of way to validate a match and also a ySNP for that man. 

However, for the most part, ySNP analysis is a voyage of discovery along the approximately fifty-eight million locations of one's y-chromosome. We can now get reliable readings on almost one fourth of those locations. When testing for SNPs we do not target a certain number of predefined and well known locations. We travel down our chromosome and look for branching points. These are  points where closely related genomes permanently separate -- somewhat akin to taking an exit off the Interstate. Most of the group continue on unchanged on the main genetic highway but one branches off and passes this branching point "mutation" on to all his descendants. So far Family Tree DNA (FTDNA) has identified more than 408,000 such branching points (ySNPs) in the yDNA samples the company has tested. Additional SNPs are discovered with almost every BIG Y test conducted.  

These SNPs trace the paths our genomes have traveled through prehistory and down to the present. Now that more and more men have tested to this level it is beginning to be possible to see branching points in genealogical times when we had surnames and some paper records exist. Thanks to the work of Alex Williamson with his Big Tree of the major haplogroup found along the Atlantic Coast of Europe, we can begin compare SNP branching with the STR and paper trail documentation we have seen in previous decades. Comparing Alex's SNP tree with the one seen above, three branches emerge that help refine the genetic trails of Philip Dowell's three sons that had been put together from paper documents and STR data. 

For the purist this charting process reversed the chronological order of the sons. In this chart the descendant of eldest son is on the right and the descendants of the third son on the left. However, the main take away for today is that branching SNPs have been discovered that separate the lines of descent within the last three centuries. The eagle-eye readers will note that a fellow traveler of a different surname has joined the genetic migration. His family was associated by both location and business transactions in both Maryland and North Carolina. The SNP branching suggests the genomic link is with the second son although other evidence is more ambiguous. 

Is you head hurting even more now?