Trascrizione completa di Ep. 5 Consent, DNA databases, and misuse of a San Francisco rape victim's DNA.

considerably since then.  Now for those of you who aren't in the scientific or medical fields, or even the legal field and informed consent is what you give when you go to the doctor or the hospital for a procedure or something, they say you need to have X Y or Z done. And these are the risks for the procedure. This is exactly what we're going to be doing to it. This is what you can expect for it. They're explaining the procedure, how it's going to be done, what they're going to do. What are the risks for you and what are maybe some other options that you might have that are open to you so that you have all of the information necessary to make an informed decision on whether or not you're going to consent to something happening. Informed consent also applies to clinical research studies or research studies in general, anytime you're obtaining a biological specimen from an individual and you're going to be using it for research, you do need to obtain that person's consent or that donors consent to use their specimen for that purpose. And it's a defined set of what you're going to use it for. And in genetics, we have a lot of projects that are ongoing. And if any of you have been using some of those direct to consumer DNA tests, you are a beneficiary of some of these projects. So for example, we've got the 1000 Genomes Project, we've got the HapMap project you've got Y chromosome databases. You've got the Human Genome Diversity project, of course. And then beyond that are the criminal justice DNA databases and those are a separate beast from what we're talking about when we're talking about these other kind of open crowdsourced, almost, genomic projects. And the methods that are used to obtain donations for those projects have come under some criticism as well, because there is a question of whether or not the people who are donating samples to them actually know what they're donating them for. And if you're using those direct consumer tests, buyer beware, you do need to read the fine print, because you are consenting to a lot of things. I know that the amount of sample they ask you to send off in the mail on those is far in excess of what they need to actually run the test. So I'm not sure if they're just collecting extra, just in case they need to repeat the test or if they're going to be using it for some other research purposes as well. So that is something you need to double check before you, you agree to send your samples off to those things. They give you some interesting information. You just need to decide whether, knowing that cilantro or coriander tastes like soap to you is worth giving away your genetic information for someone to do with as they will. Now, the issue of people's biological samples being used for purposes, other than that for which they have given their consent, knowingly, or being used for purposes that they didn't even know about is not isolated to just the situation in San Francisco With this particular crime victim. Bioethicists have been quite concerned about how many samples are obtained and used from ethnic minority groups.  In fact, a bioinformatician, Yves Moreau from Belgium raised the red flag when he noticed some 36,000 plus samples from the Uyghur Muslim population from China and other minorities from China and he was skeptical that they had actually provided informed when they are samples were donated to the study. And so he actually went through and found at least another 28 papers at six different journals that also lacked any kind of documentation or sufficient documentation to show that the donors had provided consent for their samples to be used in this way. And his complaint is still ongoing. They're still investigating it, but it just shows you that things are a bit more widespread than you might think about. And we're going to delve a little bit more into the ethics around using the indigenous people's, ethnic minorities, and a lot of these genetic databases that have been around for decades at this point and just growing and being used by scientists all the time.  I'm going to have on a few social scientists that have been working in collaboration together on this and other issues, and specifically applying this,the, these ethical issues to the forensic use of genetic information. So if that's something you're going to be interested in listening to please make sure that you have already followed the podcast so you'll know when that episode comes out. I think that because we're going to be talking about forensic phenotyping, biogeographical ancestry, forensic epigenetics I'll need to do another episode to give you some foundational information so you can understand what we're talking about in that episode. So that'll come out... so the interview will probably be a few weeks.  In the meantime, let's look back at criminal justice DNA database, and talk a little bit about how those are structured in the laboratories across the United States and a little bit about international, but there's so much diversity in laws and stuff I can't really speak to all of those. So if you are an, in an international laboratory, I'd be interested to hear from you about how your databases function in your countries.  In the United States, there are three levels to the national DNA database. And in order to participate in the national database, you have to be a government laboratory. You have to be accredited and you have to follow the FBI Quality Assurance Standards for Forensic DNA Testing Laboratories. If you're a laboratory that does forensic casework, or if you're a laboratory that strictly processes, DNA reference samples, or known samples for inclusion into the DNA database you have to follow the FBI Quality Assurance Standards for DNA Databasing Laboratories. Now the government laboratories are the only ones that can actually enter information into and interact with the database. Private laboratories can do the DNA testing on samples and produce DNA

profiles which then can subsequently be entered into the government database. However, there are certain requirements they have to meet before they can do that. So they have to meet the same quality assurance standards. The laboratory, the government laboratory that is contracting to them to do the DNA work, has to have gone through and audited that laboratory to the FBI standard, or they have to do something to ensure that private laboratory is meeting it. Usually it's an onsite visit and they will conduct their own audit, but it doesn't necessarily have to be that. The government laboratory has to have with the private laboratory, a written agreement, and they have to show that all of the requirements have been met prior to the private laboratory performing any DNA work for them. So if the private lab did the DNA work, but there wasn't an agreement in place until after that work was done, that work any DNA profile generated from that work would not be eligible for entry into the database. Now at the national level in the United States, and most international laboratories will have something similar to this, right? So there's one agency that's responsible for the whole thing. And other laboratories submit information to it. At the head of it in the United States at the National DNA Index System, you have what's called the NDIS Custodian. And of course in the US the national level for the criminal justice database is the Federal Bureau of Investigation or the FBI and the NDIS custodian works for the FBI. Before I get too far into the structure of the database system in the United States, I wanted to give a point of clarification. Most of you may be familiar with CODIS, you'll see it mentioned in the press. The national CODIS system. That is not the name of the national database. National database is NDIS, the National DNA Index System. CODIS, is the software that runs the national database. So it's the Combined DNA Index System. The FBI owns the CODIS software. It is written and maintained by private contractors. The FBI does provide the CODIS software to laboratories internationally. And in fact, they have provided it to hundreds of other countries so that they can implement national DNA systems as well. Now, back to the NDIS custodian, that person is the final arbiter of what can go into the database. Now there's federal legislation that governs what can go in. And then of course, there's the NDIS procedures that laboratories participating in the system have to follow. There's continuing education that everyone who's entering data into that database has to go through on an annual basis as well. Then you have the state level, which is called SDIS: the State DNA Index System. You will have a state CODIS administrator and essentially the state administrator is the custodian for things at the state level. They ensure that things going in to the database are eligible. And in compliance with state law, and anything that goes into the state database that is eligible for upload to the national level is in compliance with the national law. Below the state level is what we call LDIS or the Local DNA Index System. This has a local CODIS administrator and they are responsible for things at the local level. Typically at the local level, you do not have as many rules and regulations or legislation that governs what's going in there. And this is apparently what the situation is in California, or specifically in San Francisco. There was not a rule that specifically prohibited putting victims samples into the database. Now, based on what I read in some of the news articles, and if I can find the particular one where I gained this information, I will definitely link it in the show notes. But it was implied that the local laboratory, the reason why they had a policy that allowed them to put victims into the database was they were using it to detect potential cross contamination between different cases. And they wouldn't be the only local database in the world that would be using it for that purpose.  Now as a result of this particular case in San Francisco, there is a state Senator, along with the district attorney that have announced that they are introducing new legislation, Senate bill 1228, called the genetic privacy for sexual assault victims. They announced that on March 7th. So in California does seem like most likely they are going to press to have specific legislation preventing this type of incident from happening again. Other states already have these laws in place. However, a lot of jurisdictions that don't have laws specifically prohibiting this already have policies within the local laboratories that do prevent putting these in. Now, this is separate when I'm saying these laboratories, I'm talking about government laboratories, private laboratories are all going to have their own policies with regards to how they're going to manage things within their laboratories, because they can actually create their own DNA databases internally. And whether they're using these to link cases from their customers. Together or if they're using it for contamination searches or determining whether or not they have cross-contamination between cases, it's unknowable, it's going to be a case by case basis. You also have to keep in mind that, there are some individual police agencies, Sheriff's offices, smaller police municipalities can operate their own DNA databases using private software. So for example, there's a company called Small Pond that provides software similar to CODIS with similar functionalities. So DNA reports that are provided to these police agencies, the police agency can enter themselves and maintain their own database that's completely outside of the control of the National DNA Index System , state law or LDIS. If those laws are written specifically so they only govern things in the CODIS software. So if they're being written well enough to cover private databases, I don't know the answer

to that question. So it is something to be careful of. There are also private laboratories that are part of what's called an eDNA consortium it has software as well that allows you to do case management. And one of the functionalities within there, there's a module that has similar functionalities to the CODIS software, again that allows private laboratories to operate their own DNA databases that are likely outside of any laws. I don't mean to imply that private laboratories maintaining these databases equate to nefarious purposes. They are often using these for the same purposes that the government labs do. They perform a cross contamination check, and they also are able to provide the service of linking unsolved crimes to putative perpetrators. Internally, same thing with government laboratories, the laboratory policies would need to be in place to ensure that those samples and those DNA profiles that result from them are handled in an ethical manner. I should point out that the use of the CODIS software as a way for laboratories to check for cross-contamination between cases. It's not a novel idea, this has been done for quite some time in many laboratories. Part of that was because there wasn't another alternative available. In recent years, one of the primary companies that provides equipment and software for forensic genetic testing has a new analysis software. I say new it's been out for years now, but it newer software that has a,contamination check feature. You can just use the data analysis software that you're already using to evaluate, and interpret your data to perform the cross-contamination checks with other cases and keep it separate from the criminal database within the laboratory. Indeed, I think that's one of the most appealing aspects of that particular software. And the one I'm speaking of, for those of you in the field, I am talking about Genemapper, IDX that's produced by Applied Biosystems, which is part of the Thermo Fisher scientific gigantic umbrella that covers the entire world of life sciences it seems now. So that's a functionality that you can make very good use of as an alternative to using the criminal database for that. And that would avoid you coming into some of these ethical dilemmas, because if in California, what they were doing was indeed using the CODIS software for this ability to do a cross contamination check and then they determined, for example, that this victim sample that they put in was matching to a case from a year prior, two years prior such that there's no way that her DNA from her sexual assault case could have cross-contaminated work that was done, year or two years previous. Then you're stuck with, oh, now we have this investigative lead in a cold case, are we obligated then to release that information to the policing agency? And it seems like if that's what occurred that then they've felt obligated to pass that information along. So now you should have a basic understanding of the structure and function of the different levels of the DNA database within the United States and the differences between the different levels, the national state and local levels. Let's go back and look at things from the victim's perspective. Forensic sexual assault medical examinations, which is what a person goes through when they've made an outcry of some type of sexual crime or sexual abuse, sexual assault. The sexual assault nurse examiner, or the physician who's going to be conducting that medical examination has to develop a rapport and a trust with that patient and make sure that they understand exactly what's going to be happening during that examination, because it is very intrusive and victims of sexual assault are often, especially if it's something that's just happened, they are very traumatized by it. And since the procedures or the examinations are so invasive, they do need to be very much aware of what's going to happen to them. Part of this process is the medical professional has to obtain consent from the victim or the patient to proceed with the examination. They have to sign a document saying that they've, it's been explained to them, they understand, and they consent to it. Now just because they've consented to have this forensic medical examination conducted, does not mean that they can't revoke consent for any individual specimen that might be collected from their body at any point in time during that examination. Now, if we take a look at the whole situation, this whole topic that we're discussing today, there's three points that come to my mind. One, the lack of consent in this case in San Francisco, two is the breach of trust that has been created between victims of sexual assault and the law enforcement agency and how negatively that could impact whether or not other victims decide to come forward with complaints. We already have an issue with that in this country. And this certainly isn't going to help that situation. Now putting additional protections in place, introducing this new law in California, other states, not related specifically to an instance like this have already put protections in place or are looking to put protections into place. Because we also have, if you remember, this whole new branch that's developed in the last few years, Called investigative genetic genealogy, or forensic genetic genealogy, where we're using these open source genetic databases that people have voluntarily given their samples to as a means to investigate cold cases. Now, in the case of the golden state killer, it turned out very nicely. In the end, they did catch someone after 30, 40 years. So it's an amazing tool. We have to make sure that it's not abused. And in the absence of a law, your ethics are the foundation of making those decisions. And in forensics, we focus very heavily on teaching the technical aspects of things. As I discussed in episode one and when we talked about laboratory quality assurance and episode two,

when we were discussing some of the issues that surround things when for defense experts, when they're going in to do case reviews and where we have shortcomings in training, it's quality assurance, courtroom testimony, understanding what your responsibilities are in those aspects. And then the another dimension of that is we're not teaching people, bioethics in forensics. I remember when it wasn't even a requirement at all. Now, accrediting bodies, like ANAB have introduced this, once a year, you have to read and sign a document with regards to professional standards and professional conduct. If you're part of an educational organization such as, the AAFS or in the UK, you've got the Chartered Society Forensic Scientists, the Association of Forensic DNA Analysts and Administrators, most of these genetics organizations or forensic organizations have ethical clauses that their membership is expected to adhere to. But as far as making sure that we are continually developing our understanding of bioethics in conjunction with the advancements of the science and looking to the future to see, okay, today what we're doing is sufficient, but what about this new technology that's coming? That's giving us more information and that we can do more with and reveals more of people's private, genetic information. How are we going to handle that? Hard as it is for us as scientists to keep abreast with the ever-changing technology, it's even harder for investigators and lawmakers to do so.So if we're having issues, keeping up, you can certainly expect that the laws are not going to keep pace. So what do you do in the meantime? I'm going to give you a couple of examples from my own personal experience. And one was very early in my career and one's more recent and they involve two situations. One where there was law and two where there wasn't. And for me, what this is, these experiences have taught me is that I have these things I've added them to my toolbox. Just like when I'm training new forensic, examiners and new people in to forensic science. Every case is different. Every situation is different. So what you have is a toolbox and in there, you've got the different tools that you can use to conduct different types of examinations. I know if I'm going to examine a bloodstain on cloth, that I might be using a different presumptive test than I would, if I'm examining potential blood on a rusty knife, right? There's different tests that I would employ for that. If I'm looking for specifically male DNA, I'm going to use a different test than I might use if I'm wanting to have, a full genetic profile. So just as I have these technical tools in my toolbox. I need to have other tools in there as well. We employ this when we're dealing with evaluating risks when it comes to the laboratory quality assurance program, right? we have these guidance documents. We have the ISO standards, these requirements that we have to adhere to, and whenever something falls outside of the existing policies and procedures for the laboratory. What do we do? We ask ourselves this question: is this going to adversely affect testing? So that's a fundamental question that you ask when you're going to be evaluating any kind of risk that's not specifically covered by your policy and procedure. And in this particular situation, we are actually looking at a larger ethical picture, right? Ethics needs to be in that toolbox as well. what is it? That we need to be examining for that. And for as a professional, you need to understand what are your responsibilities as the custodian of that sample. You are required, or you should think in your mind that you need to ensure that everything that is happening with that sample is being done in good faith and within the bounds that person provided their consent. Now, back to these two specific instances that I've faced in my career. One, like I said was very early on. It was when I was in a forensic DNA databasing laboratory, where we were handling samples from convicted offenders. My technical leader and I, we put together a poster presentation and we took it to a genetic society meeting and shared what we were doing in forensic genetics at that time. And this probably would have been about 2003, I'm thinking that I did this. I'm not sure that I can properly convey the level of excitement that all these geneticists had at the prospect of meeting those of us that had in our possession, thousands of biological samples from people. They could see all of the possibilities that could open before them as regards their research, tremendous opportunity. And we had to say no, because the law specifically prohibited us from doing anything with those samples, other than putting them into the criminal justice DNA database. There's no option to do anything otherwise. We couldn't even allow them any access to anything.   The second example I have for you was a question of paternity where the alleged father was deceased and his death had been referred to the coroner a couple of years previous. A, mother came in with her child. She said that this person was the biological father and she needed to establish paternity for her child. The issue in this case was who has the authority to ask for testing on that sample? When samples are collected at autopsy, the purpose of them is to establish the identity of the deceased person. Now in this particular case, his identity wasn't in question, it was established at the time the autopsy was conducted. So it wasn't a question. Because the sample was collected from the deceased individual for identification purposes, at the request of the coroner, that sample is the property of the coroner, essentially they have responsibility for it. And we can only use it for the purpose for which it was collected. Someone can't just walk into the laboratory and say, I want to use this person's sample for a DNA test. You can't really even confirm whether or not you have a sample for that

person in the laboratory, because I would be a breach of the confidentiality for that deceased person and their next of kin. Now, the mother did have sufficient documentation to indicate that she did have a legitimate request. However, the sample needed to be released from the custody of the coroner in order for the next of kin to then be able to give their permission to proceed. One of the complicating factors in this case was that, it was the process to get it released from the coroner. As in the coroner did not need it for their inquiry. There was an added complication because the amount of time it took to get a response from the coroner's office, where a minister of government decided that they would step in on behalf of the customer to try to get us to move faster in actually do this test. They didn't realize that what they were asking was, not okay. So we can't just do it because some politician calls up, we need to actually follow the correct processes and ensure that we have all of the documentation on file. And as soon as the coroner released it, we had documentation from the mother in the case to show that she was legitimately next of kin and could request for the test to be done. And of course we could proceed and had the test done. But it was all an issue of who had custody of the sample, who had authority over the sample, who could request something to be done with it. And even though she was family member, we didn't just let it happen just cause she walked in and said, oh, I, he's the father of my child therefore I want to test done. Because you could actually have people coming in that don't actually have a legitimate claim to the sample or legitimate reason for having it to happen. So you do you are responsible for safeguarding that sample from any kind of, I don't want to say nefarious use, but that's the word that popped into my head. The second lesson that we can learn from this particular example is reflective of a possible reason for what had happened in San Francisco. You know, as,as I mentioned, it was an episode three with Dr. Schudel, where we were discussing everyone's roles in the process, the laboratories and the investigators, and the police are in the business of catching criminals. And maybe they didn't understand in this particular situation or in, within that jurisdiction, that we can't put victim samples into the database or that we shouldn't be. And like I said, you can use it as a tool to look to see, do you have some cross-contamination incidents possibly going on? But if you do get a hit in the database to an unsolved case, that it's not really a legitimate investigative lead that the investigators should be following. Certainly should be cause for pause and to think about it. Don't get so wrapped up in what your customer is pressuring you to do so that you forget that there are processes that are established for a reason. And it's your responsibility to guide the investigators and make sure that they understand what the rules are or what the laboratory policy is or why the laboratory policy is structured a certain way. Or if you're not really sure and you think you need to seek some legal guidance. Remember too, that you're not required to know everything. Tiffany Roy and I discussed this a little bit in, in episode two, you don't have to have all the answers. You don't have to know everything. You can reach out to people who are experts in that. So if you've got a question of ethics, reach out to somebody who is an expert in bioethics. If you're not sure about how the law applies in a particular situation, reach out to the district attorney's office and they are going to want to help you make the right decisions. They're going to want to inform you of what the law requires. And if it's outside of the law, then you need to have a plan for how you're going to deal with those types of things. So this is what I'm talking about, you need to have... you need to have some additional things in your toolbox when it comes to making the right decision in these types of bioethical situations. And you can actually take a much higher viewpoint of these things than just saying, oh, I don't know what to do from the laboratory side, or I'm not really sure because, it's the local DNA database and there aren't really any rules for it. Well to back up. you ,could look at it from a constitutional level, right? You've got the bill of rights and I'm pretty sure the ninth amendment, it says that the rights reside with the individual, if it's not specified in law. How, or whether or not that applies in this case, I would look to any of the legal professionals that might be listening to this podcast to maybe send me an email and let me know what their thoughts on it. Comment on, on, on LinkedIn or on the Facebook page and let us know your thoughts about it. And then, if you're outside of the United States, if there isn't something specific that governs these types of situations, maybe you need to be looking at the international bill of human rights. The guidances is out there. And like I said, we're looking at a 10,000 foot view when we're talking about constitutions and the international bill of rights. And maybe we don't have to look that far. The medical field has had substantial guidance in ethical practices for a long time. We can also look to that field for information and guidance on how to establish better, ethical frameworks for us to use when we have to make these kinds of decisions. And maybe your laboratory should look into having an ethical review board, much like most hospitals do, Or universities, when they're, you're looking at a research project and you're working with humans or animal models and specimens from people who are being treated for cancer and things like that, these things exist already. We don't have to reinvent the wheel. And always remember, and I'm going back to the quote from Jurassic park, don't be so preoccupied with whether you

could and the possibilities that doing this testing can open for you as a laboratory professional or as an investigator on a case that you forget to stop and think of whether or not you should do it. [00:39:39] Angela: As I close out this episode, I'm going to direct you to a video on YouTube. In fact, I'll make sure that it's on the podcast blog, so you can just watch it right there along with seeing all the links in the show notes. It's about consent and a cup of tea. And it's about five or six years old at this point, but it was an educational campaign and it equated asking someone if they would like a cup of tea to initiating sex. And instead of thinking of it as from the perspective of sex, I want to you to think about it from the perspective of whether or not you have consent to put a sample into a DNA database. Do you have consent to perform a particular type of genetic testing on that sample? So it's just one more thing to put into your toolbox and other way to think about it in your head. You didn't ask a person, if they want a cup of tea, they don't want a cup of tea. A person can want a cup of tea and then change their mind and not want a cup of tea, if a person is unconscious or dead or you didn't even ask, then the answer is no, without some express legal authority to do so.  In the next episode, we're going to be continuing this conversation about, genetics, forensic genetics, and the ethical use of the information that's available. And part of that is understanding a little bit more about what is investigative genetic genealogy or forensic genetic genealogy. What are these tests that are freely available to you as a consumer. These are called direct consumer tests. So that's the things with 23 and me and ancestry DNA and family tree DNA, those types of things. There's additional stuff now where you can go and do think it's Circle DNA does some stuff that's more specific about your medical health panel, genetically. Genetic information with regards to that. And I think inside tracker does some of these things as well. And so we're going to talk a little bit more about the different types of DNA testing that are available to you. Maybe which one you want to pick, but also fundamentally the ethical things that you may not be aware of in the background on those. So that data that's being used to tell you what percent of you is Western European or Sub-Saharan African. How, where did that information come from and how accurate is it? A listener has reached out, through Facebook and they said that someone sent in a hair sample from their golden retriever to one of these ancestry companies and the results they got back said that they were, Portuguese and Korean and Intuit. And, yeah. So we're going to discuss, that and other urban myths possibly. So if you've got a similar question to that, please. Please send it on so I can address it in the next episode. That's going to give you the foundational information that you're going to need to understand the larger conversation that will be in the episode after that with Dr. Matthias Wienroth and Dr. Carol McCartney, they are both with Northumbria University's Centre for Crime and Policing. He's a social scientist and she is a professor of law. So we're really going to get into the ethics as a lived practice in forensic genetics. And I really do hope that you will join me for both of those episodes.  I hope you learned something new today, or at least another way of looking at a situation. Thank you for taking the time to listen. And again, make sure you follow us on Facebook to stay up to date. And you can also, there's a link there, you can sign up for our mailing list as well. With that, thank you and I hope you guys have a good rest of your day.