Minutes
Consent Workshop
28 September 2020 @ 9AM EST
(dial in numbers and password below)
To access the recording of the meeting:
https://us02web.zoom.us/rec/share/YqJtwe4g9fBnd3xj7vDec-dFUW4KIh7-wfyMDQHy9ra8IlicNUlNhUEevNQSLAuu.nL3K78vQ_N3ZFkD2 Passcode: !5+*?nQ6
Attendees[a]
- Kristina Kekesi-Lafrance
- Bartha Maria Knoppers
- Megan Doerr
- Susan Wallace
- Yann Joly
- Edward Dove
- Michael Beauvais
- Angela Page
- Jonathan Lawson
- Adrian Thorogood
- Eva Winkler
- Giselle Kerry
- Christoph Schickhardt
- Minae Kawashima
- Saskia Sanderson
- Martin Bobrow
- Clara Gaff
- Bobbie-Nicole Ray-Sannerud
- Tommi Nyrönen
- Sarion Bowers
- Alef Janguas da Costa
- Irith Kist
- Stephanie Dyke
- George Krog
- Esther Middleton
- Nchangwi Munung
- Irina Idler
- Fernanda Bittar
- Nusara Satproedprai
- Mollie Minear
- Vivian Ota Wang
- Penpitcha Thawong
- Shu Hui Chen
- Meredith Gillespie
- Tessa Mattiske
- Sophie Bouffler
- Arshiya Merchant
- Zeljko Vrbaski
- Annalisa Landi
- Emily Higgs
- Yasutake Katoh
- Gabriela Repetto
- Mayumi Kusunose
- Keri Finlay
- Giovanni Delussu
- Craig Voisin
- Nick England
- Ray Krasinski
- Takako Takai
- Vera Frankova
- Emily Vasquez
- Grant Wood
- Melanie Courtot
- Nancy Mah
- Gregory Rushton
- Joe Flores-Toro
- Kaya Akyüz
- Kathy Reinold
- Viviana Giannuzzi
- Jonathan Tedds
- John Wright
- Ashley Hobb
- Rosalyn Ryan
- Francesca Frexia
- Pinar Alper
- Emilia Niemiec
- Kunal Sanghavi
- Michele Mattioni
- Dylan Spalding
- Subhashini Jagu
- Soichi Ogishima
- Melanie Goisauf
- Fuji Nagami
- Anthony Brookes
- Sara Casati
- Saime Guidry Auvil
- Anjene Addington
- Vera Frankova
- Altovise Ewing
Reference for the familial typology:
Knoppers, Bartha Maria, and Kristina Kekesi-Lafrance. "The Genetic Family as Patient?." The American Journal of Bioethics 20.6 (2020): 77-80. https://doi.org/10.1080/15265161.2020.1754505
Minutes
Brief overview of the GA4GH Consent Toolkit project: background information, methodology and findings of the familial consent clauses and the first steps of clinical consent clauses. Invitation to attendees to share with us their current consent forms to genetic testing in the clinic to further nourish our analysis.
“Generic” consent clauses: because they are not standards, they should be customized by local researchers according to their local requirements and according to the type of projects they are drafting consent forms for.
Rationale of the typology: situated against the right not to know/to be left alone. We have also taken into consideration the usual disclaimer/warning clauses on potential risks of stigmatization and discimation to family members.
Review of our current typology of familial consent clauses with some international examples.
Disclaimer - we presume every form talks about paternity, maternity or misattribution.
- A legal Duty to Communicate
Feasibility of this approach?
The language “threat to life”: people could get nervous from this and might get scared from participating/consenting at all. Usual expression? We will rethink the framing, it may not be as high level, too much on the extreme side.
Potential alternative: is “significant” the language we should use instead? Should be explained by the person with the form.
What constitutes a “threat to life”? The answer will be very different from one health practitioner to another.
That language was probably taken by public health laws.
Relationship of close proximity with research team and family members: closed nature of families, we will verify if original texts circumscribe the family entity in their language, e.g., do they use the term “biological” family members to narrow/close the open added nature of family?
- Physician Discretion
Again, we have used the word “significant”, we might need some guidance on how we want to use this term. Or sign post that researchers using these clauses should precise the term if used.
1st clause: “clinically actionable”: popular way to say to physicians to use their judgment.
There is a broad spectrum of interpretation by geneticists on primary care. We should add a yes/no option.
2nd clause creates complexity for people outside of the circle of care (family unit/individual).
We will list possibilities of consent clauses for researchers rather than offer comments on generic clauses drafted.
- Patient Preference
We should draft a preamble for the familial clauses: changes of sociological reconstruction/reformed families. We’re looking at “bio” because of WG(E)S. We should be consistent with the use of the following language: “blood relatives”, “biological”... etc.
Maybe we should even add a glossary with a definition of terms such as “family” (and “significant”) so we could use them consistently throughout? They are very subjective terms. How broad is the “family” we are looking at? Genetically, be related to a lot of people, so where is the cut off?
1st clause: add an option clause (yes/no).
“Consent” → “form” (replace words).
2nd clause: “required by law”: to put into brackets, because it may be an option in certain countries. Open it up to prompt discussion.
ABC: no requirements to disclose, but up to the physician to use professional judgement to see if confidentiality should be waived.
Dead: your ‘no’ means nothing after you’re dead. Maybe a next step to our analysis?
If we offer too many options (researchers don’t bother doing the personalized checking for access to data and take them out): it affects the generalizability of knowledge. We should acknowledge that there should be a discussion instead.
Affects RoR: GA4GH work on RoR and Consent should/could be combined?
Genetic vs biological relationship: does a surrogate mother have a biological relationship? The 5 parents conundrum.
If genetic test results are released to another genetic service: US = huge concern over privacy side (what is done with my info once collected, even if I say OK to sharing with my family, there is a huge underlying fear that it will go elsewhere where they will not respect my privacy). Maybe we should add language such as “your privacy will be respected even if shared.” We already have language “ID will not be revealed.” OK, but the concern is the genetic service is gonna be able to access my data and do whatever they want with it. The fact that genetic services can do whatever they want as long as no ID and don’t share with family members: this is not OK and insufficient privacy protection. We should narrow it down by adding purpose limitations.
- IRB Approved Plan/Policy Guidance
1st clause - classical certainty
2nd clause - case by case basis (helpline). Could that clause limit the scale of the study? If there are millions of people involved. Incredible implications in terms of practicality. We would need to put out options for different groups/situations.
Some large scale programs sometimes don’t think of the issue of scale. We should think of scalability.
3rd clause: all of the options are presented. RoR experience has shown that in terms of practicality, if you share clinically actionable results with your family, if you are not using a committee approach or leaving it to researchers to decide on a case by case basis, the physician is usually “findable”, the researchers tend to disappear. We will include in the preamble ways to find/get in contact with physicians (practical aspects to put in place to realize these obligations).
- Intra-Familial Outreach
Institutions are asking for a 1 pager of separate consent (1 page info and the back is the actual form to sign with disclaimers) to include in the patient’s medical records. We have just received one from the NACG.
1st - Results could be referenced and results will be sent automatically over to help for a diagnosis (presumed it will be shared).
2nd - do not presume like the first one, rather ask for permission and there are protections offered if refused. Should add a yes/no option.
But what about families that are not in the same geographic regions and thus, same health system, how do we do that? We should add a clause for different geographical groups across health systems.
2nd clause - whose data are we referring to? There is a risk of re-ID: not only because people are part of a health system, but also because they went through social media, ancestry, open genome projects...
Policy POV: are we moving towards a medical system where WG(E)S will be necessary for more precise diagnosis? What is the standard of care in the rare disease context? We should add a clause for rare diseases too: when a solution is found, it is shared in international repositories, no need for genetic relatedness to get benefits from the genomic data. For a diagnosis purpose there will be a need to have access to this data, is this the way for the future? Clinic of today, what is optimal in a diagnosis setting? Onus on me, not the physician. We should offer more choices to the patient directly.
Australian National Clinical Consent form - initially had an opt-out statement to share results with family members or not. Ran a pilot for 6 months. The majority of people were saying yes to the sharing of results with the family members’ health care. Having it as an option in a tick box created more awkward conversations with clinicians than just having a statement saying “results will be used”. This is the result of our investigation so far.
- Right Not to Know/to Be Left Alone
We should be careful: the right to be left alone clause - seems to combine preferences about not wanting a result AND not wanting your family to be informed. We should split that up.
We should also be careful that clauses should not refer to individual findings, but refer to the family entity instead. If the individual is not informed, family still could (like the German case). The right to be left alone is not an absolute right.
What about if I change my mind? I don’t want to know the results, now I do. Can, but should actively inform their institution about their change of mind. Researchers and physicians won’t be chasing you.
- Disclaimer/Warning
We have to be generic since countries will adjust it; it would be very hard to make it more specific. Can through in any specifics.
Also, we should use “in the absence of local legal protections” instead of “problems” (smoother language should be used).
Chat room
From M Beauvais to Everyone: 09:06 AM
For ease, here is the link to the "Genetic Family as Patient" article - https://doi.org/10.1080/15265161.2020.1754505
From Edward Dove to Everyone: 09:22 AM
res ipsa loquitur!
From Adrian Thorogood to Everyone: 09:25 AM
Just a quick comment: Right to be left alone clause - seems to combine preferences about not wanting a result AND not wanting your family to be informed.
It seems like many of these clauses might be imbedded in a broader section on return of individual findings, which would provide some context as to what kinds of findings might emerge during a study.
From Melanie Courtot to Everyone: 09:27 AM
Exactly - thinking about the case in the UK where an unborn child had a grandfather with Huntingdon who didn’t want his illness disclosed to the mother
From Adrian Thorogood to Everyone: 09:31 AM
Legal Duty to Communicate = is there any argument that at least an option would be to NOT mention this at all in consent?
Given that you don’t need consent, and that it is very rare (imho) to meet this legal standard in genomics, and that it crowds out other more important consent clauses…
From Melanie Courtot to Everyone: 09:37 AM
Will there be a glossary to define those terms eg “family” throughout?
From Kathy Reinold to Everyone: 09:46 AM
Does surrogate mother (carries unborn child) constitute biological? I’ve heard the use of the term genetic family rather than biological family to be clearn
From Rosalyn Ryan to Everyone: 09:49 AM
Under patient preference, I don't like the reference to releasing my information to another genetic service. It sounds like my data might go to another site that has permission to use my data any way it wants (like Ancestry). It would be better to talk about releasing data to a secured entity or one that can't release my information without divulging their privacy practices first.
From M Beauvais to Everyone: 09:53 AM
to Rosalyn's point, putting a purpose limitation would likely have downstream effects on any contractual arrangements between entities
From Meg Doerr to Everyone: 09:55 AM
Just to echo these comments about ensuring we are clear about the limits of use — in the US we have lots of concern about use of genetic info for law enforcement, etc.
From Lindsay Wilson to Everyone: 10:13 AM
In the UK this may be most likely to be relevant if a clinician is exploring a rare disease with a person, and the patient mentions another family member has similar symptoms. The clinician may then follow that up with the relative's clinician - at that stage, if the patient has consented to have data shared, this may be helpful to all parties. If re-contact is possible then this could be asked for later too? I think it would always be optional.
In rare disease, I understand it's increasingly likely that pseudonymised data would also be available e.g. via RD-Connect, and so useful data is increasingly discoverable internationally without you needing to know identity, or relatedness.
From Lindsay Wilson to Everyone: 10:16 AM
Some of our international partners flag significant stigmas around genetic diseases and rare disease and this emphasises need for participant choice.
From Fernanda Bittar to Everyone: 10:22 AM
What abou change ideia later on about it?
From Kathy Reinold to Everyone: 10:26 AM
Sounds a bit strong to tell participants that it could lead to problems. Perhaps something like, “in the absence of local legal protections, …"
From Meg Doerr to Everyone: 10:26 AM
I would advocate for making it as plain language as possible — happy to work with you to see if we can draw down the reading level.
From Edward Dove to Everyone: 10:27 AM
Perhaps a small comment to consider removing the qualifier 'very small'. Better to stay neutral on probability/possibility of the risk of re-identification?
From Lindsay Wilson to Everyone: 10:27 AM
I have also seen clauses in US docs that explain people (and their family) may experience emotional distress if they discover things of this kind.
From Edward Dove to Everyone: 10:28 AM
Looking very good, though! Bravo/brava to the team for this fab work.
[a]Apologies if we have missed anyone. Please add your name to the list if you don't see it.