Book Launch: Consumer Genetic Technologies: Ethical and Legal Considerations

Book Launch: Consumer Genetic Technologies: Ethical and Legal Considerations

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[CARMEL SHACHAR]: All right. Hello everyone, and  welcome to the book launch for "Consumer Genetic   Technologies: Ethical and Legal Considerations."  This is a book that came out of the Petrie-Flom   2019 annual conference, which brought together  leading experts to explore what ethical and   regulatory safeguards should be implemented around  the use of consumer genetics mostly focused on   testing, but with a discussion of biohacking as  well as genetic editing. I think this is such an   interesting topic. I will say that the subject of  the conference and the book was actually inspired  

by my own personal experience with 23&Me as well  as its interaction with the healthcare system when   it revealed a predilection towards breast cancer  running in my family for my mother and myself.   I won't take up too much time before  we get to our fantastic panel,   but before that a little bit of housekeeping.  The digital equivalent of where the bathroom is.   We are hoping for a lively Q&A. You might ask  how can I as an audience member submit questions.   There are two good ways to do it. The best way  is to use the Zoom Q&A feature found in the   meeting controls at the bottom of your screen.  If you click on that box and submit a question,  

our moderator will be standing by reviewing  the questions and post them to the panelists.   If you would like to join the conversation or  submit your questions through an alternate route,   please go onto Twitter and use the  #ConsumerGenetics. Again that's   #ConsumerGenetics, and at us @PetriFlom. If you  have any technical issues, please email us at If you are interested  in our further events, please sign up for our   newsletter, please go and read Bill of Health,  which is our blog that covers health policy,   health law issues, it's very very topical, and  then check out some of our forthcoming events.   I will also say that the Zoom raise your  hand feature, that little hand is very cute,   but we are not going to monitor that, so really  the best way is to contact us either through   email if you have a technological issue,  or Q&A if you have a substantive question,   or a panelist. Speaking of panelists who is going  to be speaking today? We have a really all-star   lineup of fantastic scholars, and really just  rock star human beings. The first up is going to   be Emily Largent, Assistant Professor of Medical  Ethics and Health Policy at the Perelman School of   Medicine at the University of Pennsylvania.  She's going to be followed by Natalie Ram,   Professor of Law at University of Maryland Francis  King Carey School of Law. Jake Sherkow is going  

to round out our panelists. He's Professor  of Law at the College of Law and Affiliate,   Carl R. Woese Institute for Genomic Biology at  the University of Illinois, and our distinguished   moderator is going to be Henry T. Greeley, Deane  F. and Kate Edelman Johnson Professor of Law;   Professor, by courtesy, Genetics; Chair, Steering  Committee of the Center for Biomedical Ethics; and   Director at the Stanford Program in Neuroscience  and Society at Stanford Law School. With that   we're going to dive right in. I would like to  hand it over to Emily as our first presenter. [EMILY LARGENT]:   Great thank you so much. I'm really delighted  to be here today, and congratulations on the  

book launch, so when I wrote the chapter  for this book, I focused on the APOE gene,   which is a gene that talks about risk for late  onset Alzheimer's disease or Alzheimer's disease   where the onset date is after your 65th birthday,  so I looked at this particular gene because it   turns out this is a very controversial test to  be offered in the direct to consumer context,   and in the medical school in the circles where  I run it's not usual to hear people talk about   23&Me with sort of hushed in ominous tones when  they think about the consequences potentially   of direct consumer APOE testing, so my motivation  and thinking through the chapter was really that   if we can understand and address some of the  concerns that arise in the context of APOE   testing specifically given how controversial  it is that we can find ourselves reassured   and drawing lessons about genetic testing, direct  to consumer genetic testing more broadly, so my   goal for the next few minutes is to offer some  highlights from the chapter and also to discuss   a few updates, things that I would be working  in if I were to be writing the chapter now,   so by way of brief background there are multiple  known risk factors for Alzheimer's disease, so   these include your age, race, sex, your personal  medical history, your family medical history,   and also, of course, genetics. Now researchers  have not found a single gene that will tell you   whether or not you will certainly get late onset  Alzheimer's disease, but there is a susceptibility   gene APOE, which is well known. There are three  variants or alleles of the APOE gene, and these   dictate how much risk you carry, so the E2 allele  is relatively rare. It provides some protection   apparently to individuals. The E3 is the most  common, believed to play a somewhat neutral role   in risk, and then the E4 allele increases risk  and is associated with an earlier age of onset.  

Now, it's really important to stress that having  an E4 allele is neither necessary nor sufficient   to develop Alzheimer's disease. Not all people  who have an E4 allele will develop Alzheimer's   disease, and roughly half of those who develop  Alzheimer's disease have no E4 alleles at all, so   right now, when we look at the clinical context,  right, so not direct to consumer, but looking at   the clinical context, APOE testing is generally  not covered by insurers, and it's generally not   offered clinically, and this is because, you  know, there are a host of reasons people offer,   but to highlight a few. One, APOE is not needed  for a diagnosis of Alzheimer's disease. Having   that E4 allele doesn't rule out or rule in that  a patient has Alzheimer's disease as the cause   of their dementia. It doesn't change prevention  strategies or treatment strategies to know that   somebody carries an E4 allele. Some people also  worry that it's just very difficult to communicate   APOE risk because it's very probabilistic, and  they think people will understand the results,   and there are also some concerns that it's not  safe to disclose this information given how   feared dementia is, right, which is the  effects on your memory and thinking,   and Alzheimer's disease being the most common  cause of dementia, the thought is that this is   the kind of information that can be unsafe to give  to people, so we can say all of those reasons why,   I think somewhat paternalistically, people want  to interfere and say they're not going to disclose   APOE results clinically, but the fact of the  matter is that people do want this information. So I'm going to tell a true story. This is not a  true picture of this story, but a true story of  

direct consumer genetic testing, so one of my very  oldest friends, and by that I mean somebody I went   to high school with, not numerically old, ended  up doing 23&Me genetic testing just for fun, and   she was clicking through her results to see what  she could learn about her ear wax and whether or   not cilantro tastes like soap, when she saw that  she had two variants detected for the APOE gene.   Now 23&Me only speaks to your E4 alleles,  so this meant that she was an E4 homozygote.   She wasn't really quite sure after reading this  report what that meant, or even what she should   think about it, and so she took a screenshot  of her 23&Me report, and she texted it to me   along with these questions: Well should I be  worried, and if I'm worried what should I do   so? Somebody who spends a lot of time thinking  about this I kind of had to sit back for a minute,   and think oh boy, what am I going to tell  her to help contextualize these results. So it turns out that I spend a lot of time  talking with people who have learned their   risk for Alzheimer's disease either  through genes or biomarker testing,   and these are people who have chosen to  participate in Alzheimer's disease research,   so what we know is that this is a diagnostic  label with particular significance. People   consistently point to four differences between  APOE test results and other kinds of medical   information they may receive, so the first of  these is they highlight the ways that memory   and thinking play a uniquely important role  in identity formation and their sense of self,   so people talk about how this result, unlike say  a colonoscopy, because their brain is involved   has a different import. They also report that  having this information changes how they think  

about their own memory, so E4 carriers are  more likely to reinterpret memory concerns   as perhaps the onset of Alzheimer's disease  whereas other individuals are likely to,   who learn they don't have an E4, are  likely to think of this as normal aging.   People express concern that others will treat them  differently in light of this information, so that   stigma or negative attitudes and discrimination,  which is behaviors based on those attitudes,   and that can occur in the workplace, in insurance  purchasing, or in housing purchasing. People talk   a lot about the uncertainty of outcome. They're  really not sure if they're ever going to develop  

dementia caused by Alzheimer's disease, and  finally, they speak about the lack of medical   action ability. There's really not a lot they can  do to step in and prevent the onset of dementia.   Now, I will say this is one of the two main  updates I would offer since I wrote the chapter   is that FDA recently in June of 2021 approved  Aduhelm using the accelerated approval pathway   for the treatment of Alzheimer's disease. It  was incredibly controversial given that there is   uncertain evidence of benefit, but there is very  clear risk, and very high costs associated with   it, so as of now, there hasn't been particularly  strong uptake of Aduhelm in the marketplace,   but really FDA did open the door for  other companies to put forward drugs for   Alzheimer's disease, so this last category  I would say is in the midst of changing. Now, we also know that learning your Alzheimer's  disease risk or APOE results is generally safe,   so I have to offer the caveat that this is  from relatively homogeneous populations, but   we don't see depression, anxiety, or suicidality  after people learn their risk. Now that being   said, we don't want to sort of overshadow that  there's a really rich emotional reaction once   people learn these results. Unsurprisingly, people  who learn they're not carriers often talk about  

relief and happiness to the point of ecstatic joy,  and people who learn that they're at increased   risk can talk about sadness, disappointment, worry  about burdening others. They talk about, you know,   fear that they're going to become a shell of a  person. Nevertheless, once people learn whether   or not they carry an APOE E4 allele they often  talk about this information as being empowering,   and we see this in two main areas. The  first is that individuals often adjust   their health behavior, so people who learn that  they have an E4 allele will start running again.  

They'll take on the Mediterranean diet.  They talk a lot about playing Sudoku,   engaging socially, volunteering more to try to  keep their brains active. The other thing do is   they alter their future plans in light of this  information, so individuals who learn that they   don't carry an E4 allele talk about having  a more open or broad sense of their future,   feeling like they're freer to plan ahead, but  people who carry the E4 allele will contemplate   changes or actually make changes to wills,  advance directives. They might downsize a house,   move closer to an adult child, typically  a daughter who can serve as a caregiver.   They will also make trade-offs between working  longer to save money for caregiving or retiring   sooner to check things off the bucket list before  they're no longer cognitively able to do that. So the second big update since the chapter  came out is that I don't think that APOE   genetic testing is the only kind of direct  consumer testing for Alzheimer's disease   that we're going to have. There's a lot of  enthusiasm in the scientific community for  

blood tests for Alzheimer's disease biomarkers,  and those biomarkers speak to the presence of   80 pathologies. You can actually start to see  changes in the brain that are indicative of   Alzheimer's disease, and there's a feeling that  within the next few years, we should have tests   that can consistently do this using just a blood  sample, so if that happens, I would say that   we are going to have direct consumer biomarker  testing, and that's because both we have already   a regulatory framework for FDA to look at tests  like these, and there's a business model. We know   that there are already multiple companies that  exist where people can bypass that traditional   clinical encounter to have blood tests ordered  and go ahead and order it themselves online,   so with that I think we're going to see that, you  know, APOE testing is not actually the end of it,   it's actually the first of many direct consumer  tests that we're going to have for APOE results,   so in wrapping up, I would just say that there  are a lot of reasons why people are worried about   APOE testing, but the evidence really doesn't  bear out that those are as worrisome as people   think they are. That said, I think that services  like 23&Me are not doing people like my friend  

any services by simply telling them they have E4  alleles. It's really important to contextualize   this information, to talk about the uncertainty  of risk, and to help understand what other people   do in light of this information, so I'm not  suggesting that 23&Me should offer any sort   of prescriptions for what people do, but as  they already linked to scientific evidence,   they should think about linking to social evidence  about how people use these results, so the bottom   line is that nobody should be in the position of  needing to text a friend to say, "Um, now what?" Thanks. [NATALIE RAM]: Hi, so I'm your  next speaker, and I just want to thank   everyone for being here and for inviting me  to speak with you today. I'm going to speak  

a little bit about law enforcement  use of consumer genetic technology,   and its growth and some problems with that use,  so since the April 2018 arrest of the Golden State   Killer, law enforcement investigators have made  arrests in scores of cold cases. Investigators in   these cases compare preserved crime scene DNA to  other DNA profiles in online genealogy databases.   In nearly all of these cases, those searches in  turn uncover partial genetic matches to known,   but distant genetic relatives of a putative  suspect, and through sleuthing in the resulting   family tree, investigators have been able  to identify suspects for investigation,   and in some instances, arrest. Now law enforcement  interest in using consumer genetics platforms   to solve more crimes has unsurprisingly  materialized rapidly, and continues to grow.   Parabon NanoLabs, which was the first private  company to capitalize on law enforcement interest   in this technique investigative genetic genealogy,  now has several competitors in the field,   and at least two consumer genetics  platforms, GEDmatch and Family Tree DNA,   openly cooperate with law enforcement efforts.  The field is also already maturing. GEDmatch  

started out as a hobbyist genealogy site, but it  has since been acquired by a forensics company,   Verogen, thus formally shedding its  hobbyist roots for a forensic future.   Now proponents of using these consumer genetic  platforms to investigate and solve crimes   have argued that the genetic data on which these  investigations rely has been voluntarily uploaded   and shared. Individuals at Parabon NanoLabs and  elsewhere have emphasized that investigative use   of these platforms utilizes only voluntary  data. While sites that cooperate with law   enforcement have likewise emphasized supposed  voluntariness by say introducing new options   that permit site users to opt out, at least  in theory, from most law enforcement uses,   but I want to suggest that this assertion of  voluntariness is mistaken on both intrinsic and   practical grounds, and the reason for this is as  follows. In nearly every case thus far announced,  

the individual who was ultimately arrested did not  himself upload his genetic, identifiable genetic   data to a consumer genetics platform. Rather that  individual was identified through a match between   crime scene DNA, and the profile of a genetic  relative. In many instances, including in the case   of the Golden State Killer, the genetic relative  whose DNA and identity was available to police   was a distant one, and yet identifiable genetic  data is shared within families in profoundly   involuntary ways. After all, as we all well know  we don't choose the families into which we are  

born. Now parents might in some sense be said to  volunteer to share their genetic data with another   person by choosing to procreate, but children,  poor children, cannot be said to have chosen their   genetic parents, nor do individuals in any real  sense choose how many siblings their parents give   them, or whether they have aunts, uncles, cousins,  how many and what arrangement of each. Rather   these genetic similarities arise as a product  of biology without voluntary conduct or choice.   These genetic ties are also immutable, not merely  involuntary, but immutable. The identifying DNA   that an individual inherits from her parents is  the identifying DNA that she'll have all her life.   Unlike a stolen credit card, one's  genetic sequence cannot be changed,   and these features of intrinsic involuntariness  and immutability render genetic relatedness   unlike most other relationships of data sharing  in which individuals find themselves. Genetic  

relatedness is stickier even than the social  relationships we have with our family members.   For instance, I could decline say my aunt's friend  request, for instance, or I could unfriend her or   disassociate myself from her on social media. I  could even go further and estrange myself from her   in the real world; thus, largely depriving  her of information about say my new car,   my comings and goings, my significant other,  and the like ,and yet that ant could still   serve as reliable as ever a genetic informant  because our tie is involuntary and immutable.  

Assertions of voluntariness are also misplaced  in the context of genetic relatedness   on practical problems. Consumer genetics platforms  like 23&Me, Family Tree DNA, and others typically   use wide-ranging genetic sequence data drawn  from hundreds of thousands of DNA data points.   Parabon NanoLabs, again, advertises that it can  detect relatedness out to ninth degree relatives,   that's your fourth cousin, while determining  the precise degree of relationship out to   your sixth degree relatives, that's your,  for instance, second cousin once removed.   How many of us are even certain we know who all  of those cousins are? Under these circumstances,   it is simply unmanageable for an  individual to know of, monitor,   and persuade each of those relatives to protect  her genetic privacy if that's what she desires.   Now I argue that this disjunction between claims  of voluntariness and the reality of familial   forensic identification is problematic for both  logical and legal reasons, so for one thing,   if the rule supplied by law enforcement for its  use of consumer genetic data is voluntariness,   the data is voluntarily provided, and if  implicitly included genetic relatives are included   involuntarily because of an involuntary  genetic association, they just don't fit the   rule for inclusion, and their inclusion in law  enforcement efforts is therefore inappropriate.  

For another, the result of familial inclusion  investigative genetic genealogy for law   enforcement use amounts to a de facto national  DNA database or something rapidly approaching one.   More than 26 million people have already  made use of some consumer genetic service,   and these platforms continue to grow, although  at a slower rate than previously seen.   Law enforcement access though to as  little as 2 percent of the population,   perhaps as few as 5 million consumer genetic  profiles, could make more than 90 percent of   Americans at least those of European descent,  identifiable through a third cousin or closer,   a relationship that a company like Parabon  says they can identify with precision. As   law enforcement already has the cooperation of  at least two consumer genetics platforms, that   two percent figure is rapidly coming to fruition  if it's not already upon us. A de facto national   DNA database is thus on the horizon if not already  here, and yet, no US jurisdiction has indicated   that a comprehensive DNA database of residents  would be appropriate. Each and every state and the  

federal government has legislation that identifies  whose DNA is subject to routine government search   for crime detection purposes. None of them have  said that everyone should be in the database.   Each instead has limited the database to some  subset of individuals arrested or convicted of   crimes. Indeed when legislators have proposed  expansions in the state official DNA database   to include those without known criminal histories,  they have been met with outcry and failure. In   other words, many Americans are profoundly not on  board with comprehensive genetic identifiability   for law enforcement purposes, and in my view,  if an authorized comprehensive DNA database   would be inappropriate as a matter of policy,  the de facto accomplishment of the same end by   involuntary genetic associations  should be similarly inappropriate.   Finally, I think law enforcement use of this  kind of data may raise fourth amendment problems.  

The US Supreme Court has interpreted the Fourth  Amendment of the US Constitution to protect   individuals against unreasonable government  intrusions upon an expectation of privacy that   society is prepared to recognize as reasonable.  In applying this test, the Supreme Court has   typically excluded from its concern, information  that an individual knowingly or voluntarily shares   with a third party, but the US Supreme Court  has recently begun to chip away at that rule   at least as it applies to sensitive digital data.  In its decision in Carpenter versus United States,   the Supreme Court recognized that individuals  can maintain a reasonable expectation of privacy   in their location data, at least as it's  revealed by cell site location information,   concluding that among other things the sharing of  that kind of data, that sensitive personal data,   with one cell phone provider isn't really knowing  or voluntary given the ubiquity and necessity of a   modern cell phone. Now it might seem odd to talk  about cell phone data and genetics in the same   conversation, but I think there are similarities  here. Assumptions of either knowing or voluntary   sharing of data are similarly inappropriate  as applied to familial forensic information.   As I've explained it's a practical impossibility  for an individual to know of or monitor each of   the hundreds of other individuals whose genetic  data may illuminate her own, nor is identifiable   genetic data in any sense a voluntary exposure as  between shared genetic relatives since that data   is shared among genetic relatives involuntarily  nearly all the time, and always immutably,   and in the absence of either knowing or  voluntary sharing of this data, the Supreme   Court has instead held that law enforcement  access to this kind of private sensitive data   may in fact violate the Fourth Amendment. I  think that conclusion is warranted here, too.  

Now in the book, I offer a possible path forward  drawing on doctrines from property law as an   analog for thinking about enmeshed interests in  an indivisible form of ownership. In the interest   of time, I'm not going to discuss that in detail  here, but let me close by simply saying this, yes,   resolving cold cases and bringing wrongdoers  to justice is laudable, but investigative   genetic genealogy's reliance on matches between  involuntarily identifiable genetic relatives   should prompt us to ask serious questions  about whose genetic data is now included   in law enforcement searches, and what's  the justification for that inclusion.   As I've suggested, assertions of  voluntariness just won't do. Thank you. [JAKE SHERKOW]:   Well hi everyone. I'm your last speaker today.  I'm Jake Sherkow. I'm Professor of Law here at   University of Illinois College of Law, and I  just want to take just a brief moment just to   thank everyone at Petrie-Flom for having me, again  all the organizers and of course administrators   for the conference, and to Glenn and Carmel for  putting the book itself together, which you should   go on Petrie-Flom's website to purchase, and to  Hank for moderating. The chapter I'm going to talk  

about, chapter 12 of this book, is a joint work by  myself and Professors Christi Guerrini at Baylor   College of Medicine and Patti Zettler at the  Ohio State University who really deserve all of   the credit, and only I the blame. In this world of  research, National Institutes of Health Policies,   the Common Rule, IRBs, it's surprising that there  is genetic bio hacking out there, essentially,   research outside of this institutional ambit for  which many of us are used to genetic research   being conducted, but it exists, and it is growing.  There are some estimates that it encompasses tens   of thousands of people in the United States. A  2017 report indicated that at least there were   30,000 people conducting it, and I imagine that  during the pandemic when you can get anything   that you want on the internet, you've got,  at least some people do, have a lot of time   on their hands. I would imagine that number has  only gone up. Is this activity regulated either   de facto or de jure, and should it be? We explore  in our piece in this chapter here in three parts   the answers to some of those questions. We  do it by looking first at public regulation,   then by also looking at private regulation, and  then some of the normative aspects that is the   should questions in our moving forward section of  our chapter. Obviously it's important that I start  

off with some definitions, right. What is genetic  biohacking? We define it as biological research   conducted outside of institutional settings by  individuals who may or may not have any formal   scientific training. Garage shop hobbyists who  have a late in life appreciation for biology   can do this as much as PhDs who have  founded community resource labs. It is  

all genetic biohacking for our purposes, and  regulating it as a matter of finding a balance   between the scientific endeavor, broadly speaking,  and of course, safety, health and welfare,   not just of biohackers but of everyone around.  Let's begin with public regulation, so one way   biohacking seems to be regulated is through  public regulation, the regulation of entities by   the government or by public agencies. The most  obvious source of these seems to be the FDA,   the Food and Drug Administration. Right,  FDA famously regulates a quarter of every   dollar spent in the United Atates although these  days it's really closer to 22 cents, but still,   and notably the agency has authority over  quote unquote drugs. Drugs, as you may know,  

are those articles intended for quote the  diagnosis, cure, mitigation, treatment or   prevention of disease or quote intended to affect  the structure or function of the human body.   This is an objective standard, the intent  standard, and it really is broad and   encompasses both traditional drugs that we  would consider like pills and things of that   nature as well as things like fecal microbiota  transplants of which I will discuss more later.   In addition, beyond these, FDA's authority is  broad. It has already commented that in 2017   genome editing itself, whether it's by biohackers  or otherwise, can be gene therapy under its   purview, and therefore, regulable, leading  to a suggestion that some of the biohacking   kits that are sold today, at least for  humans, are already drugs under FDA law.   At the same time, FDA authority generally does not  extend to true instances of self-experimentation,   at least where no physical article  has crossed interstate boundaries   or where pure information, rather than an article  itself, is the thing that is being trafficked.  

Some biohacking examples show this, so one case is  the EPI pencil by Four Thieves Vinegar Collective,   a bio hacking collective among many other things,  which is just simply a series of instructions on   the internet for making one's own knock off EPI  pen for those who otherwise don't want to shell   out $600 for a 2-pack. Those instructions  alone are doubtfully under FDA's purview.   On the genomic side of things, biohacking  kits that focus on non-therapeutic uses,   such as just playing around with bacteria for  fun, probably don't count either. Importantly,   as we note in our chapter, drawing this line  though is really not ever so clear. In the FMT   example, fecal microbiota transfer, regulating  poop as a drug is something that probably only   a lawyer could love and an FDA lawyer at that, and  biohackers rightfully complain of this confusion.  

This is a shame, we think, because FDA has the  expertise here to provide information on safety   as well as public service and making clear  about what the agency does. Even after COVID-19,   the public seems largely confused about  FDA's role and its jurisdictional authority,   so for FDA, it needs to be more clear when  it comes to biohacking about the limits of   its authority in the experimental space, and  relatedly, to do more public service announcements   to make that clear. To be frank, this is work  FDA already does in a variety of other contexts.   It's November 2nd. In three weeks, we're  going to get a lot of messaging from FDA   about making absolutely sure our Thanksgiving  turkeys are cooked to an internal temperature   of no less than 165 degrees Fahrenheit. Why  not do something similar for biohacking? Well  

that's public regulation. Let's move on to  private regulation. Well to begin with, we   have a number of options for private regulation,  and one of those options is, believe it or not,   patents. Patent holders can police safe and  ethical uses of genomic technologies by biohackers   by suing rogue users for patent infringement.  You're skeptical. Fine that's fair, but this is   an idea that has been floated by scientists  in the field, and is actually part of genome   editing patent license restrictions from several  academic institutions. As a historical matter,   IP holders have in fact sued downstream users for  IP infringement before it occurred behavior, from   copyright infringement for illegally downloading  music and movies to patent cases against users of,   not-manufacturers, but users of certain infringing  photocopying machines. Patents are one tool among   several for policing unethical uses or dangerous  uses of genetic biohacking. More on point perhaps  

is tort law and flip side of that coin toward  avoidance. Biohackers are aware of this. They   don't want to get sued if something goes wrong  with their kits or in their community labs,   and this was identified in structured interviews  with biohackers as conducted by Professor   Guerrini. One person said quote, "If something  goes wrong, it's your fault. It's all your fault."   Tort avoidance here seems to do a lot of work.  It encourages people to shovel their driveways,   to carry car insurance. It governs private  behavior in myriad ways and could do so for   the biohacking community here. There are also  community mechanisms in place, essentially,  

safety policies and even agreements, contractual  agreements, concerning compliance using the   biohacking space. You want access to a community  lab you got to play by the rules. This is a form   of self-policing that works as well as any  formal mechanism may otherwise do. All right,   moving forward, so genetic biohacking is  out there. It's used in drug manufacturing,   genome editing, DIY medical devices. The interest  is there. What to do about it? Well first,   whatever policies we impose on genetic biohacking,  we can't expect a hundred percent compliance.   There are going to be rogues. This is true even in  institutional contexts with all of its safeguards.  

There's He Jongkwe of course, but there's also  instances of professors that you've never heard of   in institutional settings engaging in more  day-to-day research misconduct. Our policies   there are not a failure because some people break  them, any more than criminal law is a failure   because we continue to have criminals. Indeed one  may argue, the law is a victim of its own success.   Beyond this regulators need to better engage with  the biohacking community. Engagement does not mean   giving a free pass to. It means making clear which  conduct is going to be enforced and then actually   doing the enforcement and then educating  the rest so that people can do it safely.   Other regulators have done this at workshops  before and we should continue. To be sure, this is  

not going to be universally appreciated by genetic  biohackers. Among some biohackers, not all,   there's a decidedly anti-government sentiment.  Government get out of my community resource lab.   Engagement may be a bulwark against this at least  one might hope if we are a wild optimists. Third,   we, and by we I mean the institutional people  in this room, recognize benefits of community   science. That is we must do something. We already  do this for open innovation initiatives. Some   of those are sponsored by public agencies  like Department of Health and Human Services   and FDA's competitions regarding health apps.  Biohackers tend to be users of these technologies.   They are aware of their pitfalls, and we should  not waste their understanding of the way that   these technologies are used as a resource.  Fourth, it's probably pretty important that  

we tailor enforcement to the particular approach  employed. Experimenting on yeast to brew and beer,   well that's one thing, but developing say  an insulated protein-based COVID-19 vaccine   for wide distribution to the public that's  another, and should be policed differently   because of the potential for harms. As our  chapter's title suggests, it's simply all about   finding this right balance. All right, thank  you very much. I'll turn it over to you Hank.

[HANK GREELY]: Well thank you Jake and Emily   and Natalie. I am Hank Greeley. I am moderator  for this, which means I'm going to be reading   the questions that you put into the Q&A box,  so please put questions into the Q&A box,   and transmitting them to our speakers for their  takes on them. Before I do that, let me just say a   little bit about the background of this. This was  a great conference. It was held in may of 2019,   approximately eight months BC. It wasn't actually  the last conference I went to before COVID,   but it's sort of the last memorable one I went  to before COVID, and it was a lot of fun. It was,  

however, it was in theory organized by Glenn  Cohen, Nita Farahany from Duke and myself,   but in reality it was organized by Carmel  and the other Petrie-Flom staff, and we had   20 some speakers. 20 of those presentations  have turned into chapters for this book,   so the book is a direct result of that excellent  conference. The only minor complaint I've got   is the book apparently at the insistence of  Cambridge University Press is entitled "Consumer   Genetic Technologies," but the conference was  called "Consuming Genetics," and I thought   "Consuming Genetics," was a much better name, but  that may just be because I like consuming things;   however, still a good book,  still a lot of interesting   sections chapters, and a lot of  interesting questions we can have   from the audience, so please send your  questions to the Q&A function on your Zoom.  

Let's start though with one that we've  gotten, and this I'm going to aim at Emily. How much better over the last 20 years, if at  all, have we got that understanding what the   risks are the various APOE statuses 4 4, 3 4, 2  2, etc. [LARGENT]: So when we talk about these   numbers with patients and research participants,  even now, we tend to give these very wide ranges,   so for an E4 homozygote, we say that the risk  of developing mild cognitive impairment or   dementia caused by Alzheimer's disease is in  the range of 30 to 55 percent, and, you know,   one in three sounds a lot better to me than one  and two. I would say that part of the challenge   here is that we have so many factors involved in  whether or not someone develops mild cognitive   impairment or dementia caused by Alzheimer's  disease. I listed out you know age, race,   sex, personal medical history. I think it's hard  to give that kind of precision. There are some  

researchers who are trying to create personalized  calculators that I think will do a better job with   APOE being one factor of many. The other area  that we continue to need to improve here is just   having more representative populations.  I think we understand how the E4 allele   works you know very well in some  populations, but not in others, so   progress is slow. I think that APOE should be  part of a multi-factorial consideration of risk.

[GREELY]: Okay well here's a question for Natalie.   Two of the, well GEDmatch and Family Tree DNA are  cooperating to some extent with law enforcement.   I think GEDmatch initially went to an opt in, and  then it went to an opt-out, and back and forth,   but the two bigies, Ancestry is far and away  the largest and 23&Me is kind of half its size   or 60 percent of its size, are not. Has this  caused a slowing in the use of genetic genealogy   in forensics? I haven't seen as many newspaper  stories about it, but that may just be because   it's old news. Any sense of the trend? [RAM]: The  trend in the growth of these services, or the a   trend in the growth of cases resolved using these  techniques? [GREELY]: The trend in the attempts to   resolve cases, which you could probably only get  from the numbers of cases resolved. [RAM]: Yeah,   okay, so I still get plenty of alerts indicating  that there's work continuing in this space.  

You know, I think when this technique first made  headlines, there were a lot of cold cases that had   perhaps more easily usable DNA, and so there  were, you know, there were headlines of an   arrest almost every week. I will say sin since  the beginning of the pandemic the headlines have   slowed down. Now whether that indicates a slowing  in, you know, law enforcement use or interest,   or whether that reflects the media's, you know,  attention on another sciency topic is, you know,   I might think it's a little bit of both. I  do know that the federal government is making  

funds available to local law enforcement to try  and clear cold cases using this technique. When   that happens, there is a a an interim policy in  place from the Department of Justice that governs   how those investigative genetic  genealogical searches are conducted,   but, you know, I think the DOJ policy in my  view doesn't go far enough in a number of key   aspects. [GREELY]: You know if I can follow on on  that for a second, it doesn't have to be a genetic   genealogy database to do this. You just need a  really big, broad genetic database of some sort,   obviously the CODIS database is one, and its  use for genetic genealogy is quite limited as   I understand it. [RAM]: Yes. [GREELY]:  But there we've got these increasingly   large research databases, and ultimately,  we're going to have genetic information and   electronic medical records. It won't  be in the form of the CODIS markers,   but it will be in snips that can equally be used.  Have you seen anything yet about the use of none  

genetic genealogy databases for this kind of  forensic use? [RAM]: So I'm so glad you asked   because that is what I'm thinking about  and writing about and researching now.   I've been thinking and looking at consumer  genetics data for the last while, and my   attention has now been shifting towards precisely  those research and clinical data. Now, you know,   my my primary interest here, and I think kind  of the lowest hanging fruit is newborn genetic   data. Nearly every newborn, nearly every infant  born in America has a blood sample taken within   24 hours of their birth, and that is sent to  a state lab for analysis. It's not usually,  

or it's not largely genetic sequencing, but if you  talk to the folks at the federal government at NIH   and NHGRI, they say it is only a matter of  time before we are doing genome sequencing.   You know, I think there's opinions that vary  on how soon or likely that is to come to pass,   but if and when it does that will yield genetic  sequence data for virtually every American,   and at that point you know my my focus has turned  to what are the state policies in place to protect   that extraordinarily valuable resource both from  a clinical perspective because it's, you know,   newborn genetics, newborn screening is designed  to ensure the health of every newborn American   in certain ways, but it's also an extraordinarily  valuable research repository, and if we want   to protect that for both clinical and research  uses, we might want to rule out indiscriminate   law enforcement use, which might undermine public  trust in those programs entirely. [GREELY]: My   recollection is from some litigation in Texas  and in Minnesota. [RAM]: and ongoing in Michigan  

now. [GREELY]: Yeah and the issues seem to be  completely state by state, and there's a lot of   variation about what gets preserved and saved  and what doesn't. [RAM]: That is absolutely   right and for how long. [GREELY]: So Jake, I  liked your example of poop isn't as a drug.   I think one of my, I've had dogs before who  thought that was the case as far as I could tell,   but maybe they just thought it was food refried  dog food, but I've got another example. The FDA   views cloned human embryos as drugs, possibly  as biological products, probably is both,   but certainly it's jurisdictionally within  its power. If you were the tsar, and able to  

do anything you wanted with FDA and DIY,  what's the most important thing you would do? [SHERKOW]: I mean I think there's two main  concerns. One of which I've written about,   actually with the same suite of co-authors,  plus one more, and another one of which,   I think it's just kind of garden variety FDA  stuff, so the one I've written about with other   co-authors this again is me, Christi Guerrini,  Patti Zetler, and in this case, Michelle Meyer   at Geisinger Health, is in the DIY  biospace, the availability of the stuff,   or at least the promulgation of it as being  safe and effective even though no controlled   clinical trials have been run to demonstrate  that that is so, I think has the potential   of depressing the public's confidence  in FDA writ large. This is obviously a   matter of significant public concern right  now. You hear people who are refusing to get   one of the COVID-19 vaccines because they believe  that FDA has somehow botched the job by rushing   it or by authorizing it as opposed to proving it.  A criticism I've always found to be funny because   I did not realize that so many members of the lay  public were experts in 21 USC section 360 triple   B3. I mean that's just kind of astonishing, but  okay fine, right, and so I think that FDA should  

should really go out of its way to police attempts  to circumvent the therapeutic process because   it really has some significant public health  concerns not just to the use of the product,   right, but to people kind of um losing their faith  in FDA, and its ability to keep safe and effective   products, I guess, on the market, and unsafe and  ineffective products off of the market. We have   written about this in the context of attempts to  create a, essentially a, DIY COVID vaccine. This   is being conducted by Radvac at Harvard, so no  better place to come and bite the hand that feeds   you, right, than here. The other flip side, which  I think is just garden variety FDA policy stuff,   is that we also want to make sure that to the  extent these are actually going to be used   therapeutically, right, that, you know,  people are using them because even though   it's self-experimentation, they think it's going  to treat a particular condition that they have   that there's at least some messaging about some  limits regarding whether these things are safe and   efficacious. Weirdly enough, FDA has done this  pretty well, I think, in at least one instance,   and not in others. The way it's done it well in  the one instance is this suite of people taking  

Ivermectin to treat COVID. If you go online to  FDA's website, FDA does, I think, a good job carefully explaining in simple terms what  the problem is about taking veterinary of   available Ivermectin for COVID. You may  not agree with it right that's a political   persuasion issue but at least FDA has done a good  job of saying this is why you should not do that.  

When it has come to other DIY treatments, FDA  has remained mum, and I think they've remained   mum because they don't want to make a claim that  they otherwise have jurisdictional authority over   something when their Office of Chief Counsel  has not yet made that determination or not,   and I think it's just time, like this is  happening again. We have at least 30,000   people in the US doing it. I have to imagine  that during the pandemic that number has gone   up rather than gone down, and so I think it's just  time for FDA to kind of draw a line in the sand as   to what it's going to do. [GREELY]: And to be  fair to FDA, it's also the case that they've   had other things on their mind in the last  two years, almost two years. [SHERKOW]: Yeah  

right. [GREELY]: So this one I think is mainly  for Natalie, but spills over I think to Emily   and maybe to Jake. Commercial databases are known  to be skewed toward people of European ancestry,   my insertion, as opposed to criminal databases,  which are skewed against people with European   ancestry in some cases. Is that a problem  for the predictive value of biomarkers and   for identification of criminal suspects, and  what might be done about it? Natalie? [RAM]:   So it is it is correct that consumer genetics  platforms appear to be composed disproportionately   of individuals of European descent, also  disproportionately, of Americans in particular.  

We should be careful here to acknowledge that  being of European descent is not the same as   being perceived necessarily as white, especially,  in light of, you know, the history of slavery and   and assimilation efforts regarding Native  Americans. There are many individuals who   identify as Black and Native Americans, who  may in fact have some European descent in their   ancestry, and so it would be a mistake to  think that as I in fact once once did that   the silver lining to investigate genetic genealogy  is that it will disproportionately or uniformly   identify white perpetrators. That is not the  case it is to date it is disproportionately   individuals who are white. That has to do in  part with the fact that many of the crimes   for which there are people still pushing strongly  for resolution and for this technique to be used   happen to be sex crimes involving white  victims, and so those more often than   not yield by perpetrators as well, but  according to geneticists I've spoken with,   in fact, the less specific information we may  have for for say Black Americans may in fact   indicate that they will be more likely to  be approached for additional sampling or   more likely to fall under police suspicion  more often because the family trees that   can be constructed will be less specific in the  first instance, so there will just be less known,   so that might mean that fewer of those cases will  be pursued, or it could mean if they are pursued,   a greater sweep of people will come within police  investigation or suspicion and the like. [GREELY]:   Of course, one way to avoid skewed samples would  be an effective universal COVIS marker database,   and I'm guessing Natalie you're probably not in  favor. [RAM]: So I will acknowledge that there   are some benefits um to forthrightly adopting a  universal genetic database. Put everyone's DNA in  

CODIS, so I think that there are advantages there  of transparency at least. It's not a de facto   DNA database we get as an end run around, you  know, statutory limitations on whose DNA should   be available for law enforcement use. Instead,  we might have a forthright public conversation   about the appropriateness of that broad sweep for  law enforcement use. I think that kind of proposal   would not be very successful in light of what's  happened in the states where there have been   efforts to broaden the official DNA database for  law enforcement use. As I said in my talk, and I  

note in the chapter in the book, those efforts  have been met with outcry and swift failure,   and I think that there are serious constitutional  concerns about a universal database as well,   so although it would be much more  transparent, I'm not sure it would be   more legally successful. [GREELY]: Well we need  to go on, but I'll just note that the arrestee   databases have not been that unsuccessful. The  laws mandating collection from people who've been   arrested, but not convicted, seem to be quite  common. [RAM]: Yes those are common. Though I   will note that those are individuals who still  have a connection to the criminal legal system,   which a universal database would not not.  [GREELY]: I don't want to disproportionately   pick on Natalie or send things to Natalie, but  the questions are coming in more Natalie focused;   however, this is one I bet all three of  you have some thoughts on if not data on.  

What do we believe other countries  like, for example randomly chosen China,   are doing with collecting resident  or citizen genetic information? Anybody want to have input on that? [SHERKOW]:  There was a recent report in Nature, it was   one of the news pieces, about essentially  genomically surveying the Uyghur population   in China. Although for what purposes beyond  that which can be accomplished by other means,   which China seems to be doing is is  not entirely clear, right. I mean,   you know, it seems like other countries  don't necessarily have the genomic   privacy hang-ups that at least some of us share  here in the United States. Some countries in  

western Europe not withstanding and the GDPR's  regulation of that, but I mean still not entirely   clear what the upshot of this or even what the  harms are other than the surveillance harm. [RAM]: If we want to talk about a country  other than China, I will note that the UK   is in the process of piloting genomic sequencing  for newborns. That's something that we touched on   earlier, and so that that's  something that they are building out,   and not necessarily for law enforcement  use, for clinical use, perhaps research use,   but certainly a greater collection of a greater  swath of genetic information. [GREELY]: And  

close to one percent of their population is  in the UK bio bank, which that's expected to   all be sequenced. It's 500 000 people, which  is close to one percent of the population.   Okay, we have I think a good closing  question directed to everybody.   As someone whose work focuses on genetics, but  not so much on law, do you have recommendations   for resources where I can keep up with  updates in genetics-related legislation,   and here because Carmel will want me to I will  say well there is of course the Petrie-Flom   blog, which deals with this, but other  comments, other suggestions from you guys about   what a geneticist might want to look for, look  at to find law-related law-genetics-related stuff   or learn about it. [SHERKOW]: So two thoughts right, so first there's  a wonderful news service called Genome Web, which   actually Hank you you got me on now oh 10 years  ago or so. They really do some excellent reporting   over there. There's also the news pieces from  you know Nature News and Science and to a lesser   extent Cell that does some reporting as well,  and frankly Bill of Health is great. Get a lot  

of different commentators from all over the world  posting about, you know, topical issues and short   bite-sized formats. I mean that's where I would.  [GREELY]: The Bill of Health is the Petrie-Flom   blog. I think STAT, which is another really good  biomedical health service. You know, most of it   is not about genetics or about genetics and law,  but some of it is. Any favorite resource books,   references, resources that you would suggest  somebody start with? Apart of course for the books   and articles that all of us have written, which  obviously is the important first starting point. Suggestions? [LARGENT]: I'll put a plug-in for the Journal of  Law in the Biosciences. I've found that there's   a lot of really excellent work published there  that touches on genetics and the intersection with   the law. [GREELY]: I guess we better accelerate  review of that pending submission from you, Emily.

As one of the co-editors in chief of that  along with Glenn Cohen and Nita Farahany.   Other thoughts? [RAM]: I just want to co-sign  my co-panelists suggestions. I think that   both the Bill of Health blog and the Journal  of Law and the Biosciences are are excellent   resources, and I have found enriching you  know the the law and policy pieces that are in   the major scientific journals. They're not  always focused on genetics, but when they are,   they're they're very informative. [GREELY]: Yeah  and, you know, Jake mentioned Science and Nature,   and to a much lesser extent, Cell, but JAMA,  the Journal of the American Medical Association,   the New England Journal of Medicine, and  some of the sub like JAMA Internal Medicine   and one of the, they're actually turned out to be  156 different, literally, according to Wikipedia,   different Nature publications within that  umbrella. They often publish some really good   stuff. Glenn Cohen, the Director of Petrie-Flom  publishes a lot of work in those venues, but,  

you know, I wish I could say here's a great book  that you can read that will tell you everything   you need to know about genetics and law, but  nothing's coming to my mind along those lines. [SHERKOW]: You could go through Sonia Suiter's  casebook, but it's really synoptic in scope   and one of the problems in this  area is that stuff moves so rapidly   that as soon as something gets into print literal  print as opposed to the electronic forum. There's   often something else right around the corner  that may otherwise obviate it. [Greely]: Yeah  

and I have to confess that although casebooks  are a less bad art form than law review articles,   for somebody who's not in the  field, they're not prose that   makes it easy to pick up on things.  Even though the case books are supposed   to be our method of teaching students,  they're not all that easily accessible.   They're also really really expensive and  they don't come in electronic versions.   Buy them used. All right well, I think it is time  for us to end. I want to thank Natalie and Emily   and Jake. I want to thank Carmel and all the other  people at Petrie-Flom who've put this together,  

and I want to say, buy the book. What  you've just heard is a very small selection   from a very rich book. There are 20  chapters. You've heard about three of them.   There's section intros from the co-editors.  It's at Cambridge University Press. It's from   Cambridge University Press. You can buy  it on the Petrie-Flom website or in you   know bookstores and newsstands all over the  world as long as they're called Amazon. It's   available in hardback expensive, paperback less  expensive. Not yet on kindle. Not on audio yet,  

but it's such a good book that I would actually  volunteer to narrate it, so I looked on Amazon,   you can get it as early as this Thursday, but  wait there's more if you order now we'll include   a free set of ginsu knives. Not really. Thank you  so much for attending. We hope you've enjoyed and   appreciated it, and keep your eye open for  future Petrie-Flom events. That's all folks.

2021-11-18 06:04

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