23andme and the Cold Case

August 15, 2013

By way of brief introduction, I last discussed the 23andme genetic screening service in the context of their belated adoption of IRB oversight and interloper paternity rates. You may also be interested in Ed Yong’s (or his euro-caucasoid doppelganger’s) results.

Today’s topic is brought to you by a comment from my closest collaborator on a fascinating low-N developmental biology project.

This collaborator raised a point that extends from my prior comment on the paternity post.

But, and here’s the rub, the information propagates. Let’s assume there is a mother who knows she had an affair that produced the kid or a father who impregnated someone unknown to his current family. Along comes the 23 and me contact to their child? Grandchild? Niece or nephew? Brother or sister? And some stranger asks them, gee, do you have a relative with these approximate racial characteristics, of approximately such and such age, who was in City or State circa 19blahdeblah? And then this person blast emails their family about it? or posts it on Facebook?

It also connects with a number of issues raised by the fact that 23andme markets to adoptees in search of their genetic relatives. This service is being used by genealogy buffs of all stripes and one can not help but observe that one of the more ethically complicated results will be the identification of unknown genetic relationships. As I alluded to above, interloper paternity may be identified. Also, one may find out that a relative gave a child up for adoption…or that one fathered a child in the past and was never informed.

That’s all very interesting but today’s topic relates to crimes in which DNA evidence has been left behind. At present, so far as I understand, the DNA matching is to people who have already crossed the law enforcement threshold. In fact there was a recent broughha over just what sort of “crossing” of the law enforcement threshold should permit the cops to take your DNA if I am not mistaken. This does not good, however, if the criminal has never come to the attention of law enforcement.

Ahhhh, but what if the cops could match the DNA sample left behind by the perpetrator to a much larger database. And find a first or second cousin or something? This would tremendously narrow the investigation, wouldn’t it?

It looks like 23andme is all set to roll over for whichever enterprising police department decides to try.

From the Terms of Service.

Further, you acknowledge and agree that 23andMe is free to preserve and disclose any and all Personal Information to law enforcement agencies or others if required to do so by law or in the good faith belief that such preservation or disclosure is reasonably necessary to: (a) comply with legal process (such as a judicial proceeding, court order, or government inquiry) or obligations that 23andMe may owe pursuant to ethical and other professional rules, laws, and regulations; (b) enforce the 23andMe TOS; (c) respond to claims that any content violates the rights of third parties; or (d) protect the rights, property, or personal safety of 23andMe, its employees, its users, its clients, and the public.

Looks to me that all the cops would need is a warrant. Easy peasy.

__
h/t to Ginny Hughes [Only Human blog] for cuing me to look over the 23andme ToS recently.

As you know, the Boundary Layer blog and citizen-journalist Comradde PhysioProffe have been laying out the case for why institutionally unaffiliated, crowd funded ostensibly open science projects should be careful to adhere to traditional, boring, institutionally hidebound “red tape” procedures when it comes to assuring the ethical use of human subjects in their research.

I raised the parallel case of 23andme at the get go and was mollified by a comment from bsci that 23andme has IRB oversight for their operation. Turns out, they too were brought to this by the peer review process and not by any inherent professionalism or appreciation on the part of the company participants.

A tip from @agvaughn points to a PLoS Genetics Editorial written concerning their decision to publish a manuscript from people associated with 23andme.

The first issue that attracted our attention was that the initial submission lacked a document indicating that the study had passed review by an institutional review board (IRB). The authors responded by submitting a report, obtained after the initial round of review, from the Association for the Accreditation of Human Research Protection Programs (AAHRPP)–accredited company Independent Review Consulting, Inc. (IRC: San Anselmo, CA), exempting them from review on the basis that their activity is “not human subjects research.” On the face of it, this seems preposterous, but on further review, this decision follows not uncommon practices by most scientists and institutional review boards, both academic and commercial, and is based on a guidance statement from the United States Department of Health and Human Services’ Office of Human Research Protection (http://www.hhs.gov/ohrp/humansubjects/gu​idance/cdebiol.htm). Specifically (and as documented in part C2 of the IRC report), there are two criteria that must be met in order to determine that a study involves human subjects research: will the investigators obtain the data through intervention or interaction with the participants, and will the identity of the subject be readily ascertained by the investigator or associated with the information. For the 23andMe study, the answer to both tests was “no,” ostensibly because there was never any interpersonal contact between investigator and participant (that is, data and samples are provided without participants meeting any investigator), and the participant names are anonymous with respect to the data seen by the investigators. It follows from the logic of the IRC review, in accordance with the OHRP guidance documents, that this study does not involve human subjects research.

The journal should never have accepted this article for publication. I find no mention of ethics regarding the use of human or nonhuman vertebrate animals on their guidelines for authors page but it is over here on their Policies page.

Research involving human participants. All research involving human participants must have been approved by the authors’ institutional review board or equivalent committee(s), and that board must be named in the manuscript. For research involving human participants, informed consent must have been obtained (or the reason for lack of consent explained — for example, that the data were analyzed anonymously) and all clinical investigation must have been conducted according to the principles expressed in the Declaration of Helsinki. Authors should be able to submit, upon request, a statement from the research ethics committee or institutional review board indicating approval of the research. PLOS editors also encourage authors to submit a sample of a patient consent form, and might require submission on particular occasions.

Obviously, the journal decided to stand on a post-hoc IRB decision that the work in question was not ever “involving human participants” in the first place. This is not acceptable to me.

The reason why is that any reasonable professional involved with anything like this would understand the potential human subjects concern. Once there is that potential than the only possible ethical way forward is to seek external review by an IRB or IRB-like body. [ It has been a while since I kicked up a stink about "silly little internet polls" back in the Sb days. For those new to the blog, I went so far as to get a ruling from my IRB (informal true, but I retain the email) on the polls that I might put up.] Obviously, the 23andme folks were able to do so……after the journal made them. So there is no reason they could not have done so at the start. They overlooked their professional responsibility. Getting permission after the fact is simply not the way things work.

Imagine if in animal subjects research we were to just go ahead and do whatever we wanted and only at the point of publishing the paper try to obtain approval for only those data that we chose to include in that manuscript. Are you kidding me?

Ethical review processes are not there only to certify each paper. They are there to keep the entire enterprise of research using human or nonhuman vertebrate animals as ethical, humane, responsible etc as is possible.

This is why hairsplitting about “controlling legal authority” when it comes to academic professionals really angers me. We work within these ethical “constraints” (“red tape” as some wag on the Twitts put it) for good reasons and we should fully accept and adopt them. Not put up with them grudgingly, as an irritation, and look for every possible avenue to get ourselves out from under them. We don’t leave our professionalism behind when we leave the confines of our University. Ever. We leave it behind when we leave our profession (and some might even suggest our common-decency-humanity) behind.

Somehow I don’t think these crowdfunders claim to be doing that.

A few more examples of why we need IRB oversight of human subjects research.
UC Davis Surgeons banned
Ethics of 2 cancer studies questioned [h/t: reader Spiny Norman]

Reputable citizen-journalist Comradde PhysioProffe has been investigating the doings of a citizen science project, ubiome. Melissa of The Boundary Layer blog has nicely explicated the concerns about citizen science that uses human subjects.

And this brings me to what I believe to be the potentially dubious ethics of this citizen science project. One of the first questions I ask when I see any scientific project involving collecting data from humans is, “What institutional review board (IRB) is monitoring this project?” An IRB is a group that is specifically charged with protecting the rights of human research participants. The legal framework that dictates the necessary use of an IRB for any project receiving federal funding or affiliated with an investigational new drug application stems from the major abuses perpetrated by Nazi physicians during Word War II and scientists and physicians affiliated with the Tuskegee experiments. The work that I have conducted while affiliated with universities and with pharmaceutical companies has all been overseen by an IRB. I will certainly concede to all of you that the IRB process is not perfect, but I do believe that it is a necessary and largely beneficial process.

My immediate thought was about those citizen scientist, crowd-funded projects that might happen to want to work with vertebrate animals.

I wonder how this would be received:

“We’ve given extensive thought to our use of stray cats for invasive electrophysiology experiments in our crowd funded garage startup neuroscience lab. We even thought really hard about IACUC approvals and look forward to an open dialog as we move forward with our recordings. Luckily, the cats supply consent when they enter the garage in search of the can of tuna we open every morning at 6am.”

Anyway, in citizen-journalist PhysioProffe’s investigations he has linked up with an amazing citizen-IRB-enthusiast. A sample from this latter’s recent guest post on the former’s blog blogge.

Then in 1972, a scandal erupted over the Tuskegee syphilis experiment. This study, started in 1932 by the US Public Health Service, recruited 600 poor African-American tenant farmers in Macon County, Alabama: 201 of them were healthy and 399 had syphilis, which at the time was incurable. The purpose of the study was to try out treatments on what even the US government admitted to be a powerless, desperate demographic. Neither the men nor their partners were told that they had a terminal STD; instead, the sick men were told they had “bad blood” — a folk term with no basis in science — and that they would get free medical care for themselves and their families, plus burial insurance (i.e., a grave plot, casket and funeral), for helping to find a cure.

When penicillin was discovered, and found in 1947 to be a total cure for syphilis, the focus of the study changed from trying to find a cure to documenting the progress of the disease from its early stages through termination. The men and their partners were not given penicillin, as that would interfere with the new purpose: instead, the government watched them die a slow, horrific death as they developed tumors and the spirochete destroyed their brains and central nervous system. Those who wanted out of the study, or who had heard of this new miracle drug and wanted it, were told that dropping out meant paying back the cost of decades of medical care, a sum that was far beyond anything a sharecropper could come up with.

CDC: U.S. Public Health Service Syphilis Study at Tuskegee
NPR: Remembering Tuskegee
PubMed: Syphilitic Gumma

Apparently some epic dumbasses decided that the common housecat, bloodthirsty lethal little murder-cat killing machine that it is, wasn’t quite badass enough.

What. Is. Wrong. With. People?

If you want to understand the child molestation case that has rocked Penn State University in full, you need to read PhysioProf’s take on the matter.

Joe Paterno–who has been the head coach for 46 years is the absolute monarch of that program, with absolute power. Regardless of whether he satisfied the bare minimum of legal requirements to report what he knew about the rape of children to his “superiors”–which as absolute monarch at Penn State, he really had none

emphasis added, but not really needed.

Go Read.

I’ve been having a little Twitt discussion with Retraction Watch honcho @ivanoransky over a recent post in which they discuss whether a failure to replicate a result justifies a retraction.
Now, Ivan Oransky seemed to take great umbrage to my suggestion in a comment that there was dereliction in their duty to science to intentionally conflate a failure to replicate with intentional fraud. Per usual, we boiled it down to a fundamental disagreement over connotation. What it means to the average person to see that a paper is retracted.
I rely upon my usual solution, DearReader. Select all choices that apply when you see a retraction or that you think should induce a retraction.

A retracted paper meansonline survey

Direct link to the poll in case you can’t see it.
My position can be found after the jump….

Read the rest of this entry »

crossposting from Scienceblogs.

I’ve been having a little Twitt discussion with Retraction Watch honcho @ivanoransky over a recent post in which they discuss whether a failure to replicate a result justifies a retraction.

Now, Ivan Oransky seemed to take great umbrage to my suggestion in a comment that there was dereliction in their duty to science to intentionally conflate a failure to replicate with intentional fraud. Per usual, we boiled it down to a fundamental disagreement over connotation. What it means to the average person to see that a paper is retracted.

I rely upon my usual solution, DearReader. Select all choices that apply when you see a retraction or that you think should induce a retraction.

 

Direct link to the poll in case you can’t see it.

My position can be found after the jump…. Read the rest of this entry »

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