Forum: For the general public seeking advice from this community
gravatar for Mary
2.8 years ago by
Boston MA area
Mary11k wrote:

Hello folks--

Yesterday I saw a thread posted by a member of the general public, looking for advice for their child's medical issues. This thread has been deleted (I think), but I was able to read some of the commentary before it disappeared. 

The community had some concerns about private medical information being revealed. And some concerns about seeking advice from strangers on the internet instead of qualified practitioners in real life. These are valid issues.

However, my point is more general. This may become increasingly an issue here as more people have (or hear about) sequence information, and want some advice for it. I think it is wise for this community to stay away from diagnosis. But I think we could offer these folks some guidance to appropriate resources. 

Please have some compassion for the desperation that the parents of kids with undiagnosed conditions face. And keep in mind that their thresholds for privacy are not the same as everyone else, possibly. And understand that they are hearing stories about how familes connected with researchers who could help them from random internet forums. The most recent one I saw was this: Answers.

But other stories like this are widely read: How Genome Sequencing Creates Communities Around Rare Disorders.

Could we possibly have a place to point these families, like a thread that we can sticky or something? Where we can offer them connections to the Rare Disease sequencing projects, or genetic counseling resources, non-wonky information sources like Genetics Home Reference, or something? The international group here probably could collect a good set of pointers for people around the world.

I guess I'm asking for a constructive place for some guidance for families, and a policy about how to deal with those kinds of threads.

Open for discussion.  

ADD COMMENTlink modified 2.3 years ago by Michael Dondrup44k • written 2.8 years ago by Mary11k

I've un-deleted + closed the post, it's here: Help with detecting the cause of a rare (genetic ?) disorder

ADD REPLYlink written 2.8 years ago by Pierre Lindenbaum110k

@mary : I've added a hyperlink in your first paragraph.

ADD REPLYlink written 2.8 years ago by Pierre Lindenbaum110k

Oh, that's super. Will help people to grasp the issues. Thanks. 

ADD REPLYlink written 2.8 years ago by Mary11k

Thank you very much for this post, I agree with every word in it!

ADD REPLYlink written 2.8 years ago by Michael Dondrup44k
gravatar for Dan Gaston
2.8 years ago by
Dan Gaston7.0k
Dan Gaston7.0k wrote:

I agree. I didn't see the thread but I do bioinformatics work on rare disease research projects where the causative genetic mutation isn't yet known. Many our group have interacted with lots of patients and their families. While privacy and identifiability is always a concern, for many of these individuals their concerns and expectations on the issue are often more informed than the general public, and as you said, with a different threshold.

When dealing with patients and the general public, stating that we are a bioinformatics Q&A site and not an appropriate forum is going to be a bit off-putting. Directing them more relevant resource sites is a good idea but I think we should also try and be as helpful as possible without closing the thread while staying away from trying to offer a diagnosis. Some of us may potentially be part of research groups that could connect and offer more help for instance. Just my two cents.

ADD COMMENTlink written 2.8 years ago by Dan Gaston7.0k
gravatar for Katie D'Aco
2.8 years ago by
Katie D'Aco960
Katie D'Aco960 wrote:

This was the first of these posts that I've seen on Biostars, but if this isn't a one time thing, then I 100% agree that we should have a post to point them to with more appropriate resources, and also explaining why we as bioinformaticians can't/shouldn't just 'dig in' to their sequencing data (with compassion in mind, as Mary said, instead of resorting to doxing the poster to demonstrate the point). Although, instead of outright closing the post, I do think we should have a chance to respond if we or someone we know are in a group doing research that the poster may be interested in, as Dan alluded to.

ADD COMMENTlink written 2.8 years ago by Katie D'Aco960

just to clarify: I think the author deleted his own post: I've un-deleted and closed it.

ADD REPLYlink written 2.8 years ago by Pierre Lindenbaum110k

Ah, I misunderstood. That just points to how unhelpful and unwelcoming we were, and makes a greater case for a common resource to point people to.

ADD REPLYlink written 2.8 years ago by Katie D'Aco960

I don't think we are unhelpful, rather, there isn't much we can legally do in these situations.

ADD REPLYlink written 2.8 years ago by John12k
gravatar for Istvan Albert
2.8 years ago by
Istvan Albert ♦♦ 77k
University Park, USA
Istvan Albert ♦♦ 77k wrote:

Thanks for posting this Mary. It made me think about some of the paradoxical issues regarding genetics and diagnosis.

It seems that it is not illegal to peddle folk remedies for most conditions affecting us - yet  23andme's report that showed variants associated with diseases was shut down under the threat of legal action. 

I happen to believe that a determined individual, comfortable around computers and science could learn to  do a very thorough job in finding out if the current state of the art in genomics and sequencing has any information on their condition. 

This even made me wonder, it is legal to attempt to diagnose yourself with bioinformatics methods if you are not a doctor?

ADD COMMENTlink written 2.8 years ago by Istvan Albert ♦♦ 77k

I doubt it's illegal to do it yourself. That said, there are legal disclaimers at some resources, like OMIM, but those are to cover their butts. And I know that some software providers are hesitant to reach out and help novice users for similar liability issues (at least in the US). But I think if we want people to give us their genome and medical info so we can make progress in research and treatments, it would be good for us to be a bit helpful in return. 

ADD REPLYlink written 2.8 years ago by Mary11k

I am not sure. What that would mean is that running an analysis for myself is fine but could become illegal if done for someone else. Moreover it is illegal only if the other party knows about the outcome. It is a really murky territory. Reminds me of that current news item where teenagers taking naked pictures of themselves (and not actually sending it to anyone else) were still  charged as offenders as well as underage victims of the same crime.

ADD REPLYlink written 2.8 years ago by Istvan Albert ♦♦ 77k

I was hoping to get some legal input and some input from genetic counselors, so I asked on twitter. Haven't had much feedback. A genetic counselor did tell me she's working on a project for next semester with her students that will be a guide for families. That would be helpful. But I would love to hear more about the legal issues still.

ADD REPLYlink written 2.8 years ago by Mary11k

Well the legal issues are not exactly clear, and thats the biggest problem right now. In the US, many want tougher restrictions on companies like 23andMe because, so the legal experts say, it's operating a medical service under the guise of novelty information (and thus not playing by the strict quality and ethical rules that come with offering medical advice).
The state of play right now seems to be that it's OK to offer genetic tests with very clear outcomes without much risk of 'surprise':
But it's absolutely not OK to take uninformed people's genomes and go digging. In the thread that spawned this thread, the conversation was edging towards the latter, which was very worrying indeed.

For example, imagine the following situation:
New user says they've had their genome sequenced - "what can I do to find out the cause of X?"
Another user says "Upload the data and I will help you out! :)"
Legally this is no different to asking someone "Please paste the long number on the front of your credit card here and I will help you out", except its being asked in a world where it is reasonable to assume that most people do not know what the number on their credit card means.
Biostars admins would have to take such information down in a reasonable time frame, otherwise the site would be liable under US law (servers are hosted by Linode/USA) for aiding or at least being complicit in a crime. They would probably have to ban the user who asked for the information too, because if it happened a second time with a prior I don't think a retroactive takedown is sufficient. This would really suck, because we all know everyone means well, but that's really not what matters in situations like this. What matters is how much you expose yourself to litigation when you start giving medical advice...
What would happen if the little girl found out her father published her most intimate medical details in a public space with no anonymization and sues her father and the site?
Remember, no one on Biostars is anonymous. Katie mentioned earlier about "dox"ing the father, but all I did was Google his username. I could have used his IP address or e-mailed him directly, or a number of other things to get a full name and address, and that obviously wasn't clear to him - and why should it be. Biostars was not designed for this. 
Another scenario, what happens when a citizen's privacy group says the sole purpose of this site is to trick unsuspecting victims into giving up their DNA so they, the "bioinformaticians", can publish their genetic flaws in medical journals for fame, money and tenure? It sounds crazy to us, but would it sound so crazy to a jury?
I don't think we want to go anywhere near medical advice until legal protections are put in place for sites like this. The best we can do is give a list of centres which might be interested in the patients - but really that is the job of their clinician.

ADD REPLYlink modified 2.8 years ago • written 2.8 years ago by John12k

It is important to distinguish between legal issues, and ethical issues. From the sounds of the original poster, and just being aware of these situations in general (at least here in Canada) it is actually extremely unlikely the original poster actually HAD their genome data. Genomes/Exomes may have been sequenced at the NIH but it is exceedingly rare for that data, particularly raw data, to be returned to patients or families.

If they did have access to that data, there would be no legal issues to them sharing it with anyone they chose to. There would likely be an expectation of informed consent for a researcher to work with the data of course, but it might be a bit greyer than normal since the individual would have already provided consent elsewhere in the first place. 

There would certainly be some potential landmines around consent and privacy that could be blundered into by an unwary bioinformatician, but much of that would be mitigated by the fact that the patient/family reached out to the community/researcher. 

ADD REPLYlink written 2.8 years ago by Dan Gaston7.0k

You have analogies there but the danger with these is that they only sound similar but upon more probing may not hold up. For example it is not illegal for a user to paste their credit card number into this site or any site for that matter. It would be stupid to do it here, we would discourage people from doing so, we would remove the post if noticed but there is no liability for keeping a post where a credit card number was posted by a user.

What is illegal to use someone's card when you know it is not yours.

Same logic applies here as well. We'll try to do our best to protect users but in the end it is each user's individual responsibility to obey the laws as they apply in their jurisdiction. Any site that can hosts user created content may be used to store illegal information.

That being said, even though that IMO the chance of being held liable for user content is very small I also recognize that in legal matters the truth does not always win. One can easily lose in court even if if they are in the right.  For that reason Biostar is owned by an Limited Liability Company: Biostar Genomics LLC

ADD REPLYlink written 2.8 years ago by Istvan Albert ♦♦ 77k

John, I also think you are exaggerating the risks. I agree with your sentiment against disclosing genetic information or other pii. However, I think this - hypothetical - case is not comparable to 23andme, they are a company, selling and promoting a medical/ health related product and they were forced to withdraw that product. This is a not-for profit web-site not advertising medical products or advice. There are a lot of sites where lay persons discuss medical stuff.

Do I need to be worried as a user if I answer such a question? If I tell a friend that might be healthier to stop smoking, is that medical advice? Or more so if I post an article linking smoking to cancer? Do I need to be concerned that if someone asks how to analyze a rare genetic disorder by variant calling, and I provide an answer here that BioStar or I will get a letter from FDA to cease its operation?

Under US law this should be covered by the 1st Amendment

ADD REPLYlink modified 2.8 years ago • written 2.8 years ago by Michael Dondrup44k

Obviously, I don't know how it would go down in court since such a case has never gone to court, but I can say that it isn't the same as recommending a healthier lifestyle or anything related to your 1st Amendment rights.
My concerns are people want to provide medical advice (not on its own illegal) by asking for data that may or may not be allowed to be made public. There is a big difference between someone coming to the site and saying 'here is my data, call my variants.' and, what happened on the other thread, where people hinted at the file types he would need to provide in order for us to help, and where to get them.
I hate to be that guy who quotes, but this is how it would go down in court so i'll quote:
The poor vulnerable father who just wanted to help his little girl wrote: "Variant Calling is a new term to me"
Shortly afterwards, a moderator of the site replied with:  
"Having VCF data would be huge. A BAM file is another plus, but I would start by looking at the variants."

For the record, I think it was incredibly sweet of that moderator to have offered their time up like that for a total stranger - truly - i'm just playing Devil's advocate here because as Istvan noted, the right thing doesn't always win. This dialogue could easily be portrayed by a lawyer as an attempt at phishing, where a vulnerable user is coerced into giving up their personal data without being aware of what it is they are giving up.

But even if the father did understand the risks, is it still legal to make public a genome in an identifiable way?

In the case of the father wishing to share his daughter's DNA, there is a clear red flag here.

But even if the mother and father consented and it was believed they fully understood what was going on, this decision impacts both of their daughters, and their daughter's children, and their children's children. None of those parties have a say, and that isn't ethical. If any of the Constitution is broken, it's 4th and 5th Amendment rights to unreasonable searches and self-incrimination.

ADD REPLYlink written 2.8 years ago by John12k

Like I said in my post, it is important to differentiate between Ethical and Legal considerations. Particularly if you are a researcher at a University, any help you offered would still need to adhere to the rules and regulations concerning Ethics in Human Research, etc at your Institution. Whether you were doing it "on your own time" or not, it wouldn't make a difference. Now there are some potential legal implications to conducting research unethically but those pertain mostly to consent and privacy. 

I think anyone would go through the proper channels but anyone wanting to assist would clearly be doing so in a research capacity. After all, if the NIH already did sequencing it has already likely moved into research. Otherwise they would have already had a genetic diagnosis based on the "clinical" exome. It is certainly unusual for a patient to directly interact with the researchers in these situations but not completely unheard of. Typically though we work in teams on this sort of thing. Researchers along with the Medical Geneticist and Genetic Counsellors who may be involved with the case, and often the primary care physicians. But the results are always returned as research results. In pretty much all cases for these sorts of things there is no immediate actionable medical advice that can be offered. The patient has already been diagnosed with a condition and is already being treated (if treatment is available) but the underlying genetic cause is what is unknown. In a small minority of cases the genetic cause may give ideas about treatment that wasn't considered before, but usually in a orphan disease clinical trail type scenario. Those factors are what make these cases very different from 23andMe and similar, because something approaching a medical diagnosis has already been made. The genetic investigation is important for family planning and genetic counselling primarily. And of course for the family to know, which can bring some relief and peace of mind on its own.

ADD REPLYlink written 2.8 years ago by Dan Gaston7.0k
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