AGENDA

Clinical Data Sharing and Consent
Thursday Oct 6th at 9am PT / 12pm ET / 5pm BST / 2am AEDT.

Meeting Recording

Zoom Details:

Join Zoom Meeting

https://us02web.zoom.us/j/4426465151?pwd=VXp4djBjRmN4YWw4cGNZUkQrSGlJdz09

Meeting ID: 442 646 5151

Passcode: GA4GH

Attendees:

1. Maili Raven-Adams
2. Lindsay Smith
3. Beatrice Kaiser
4. Sue Chen
5. Juliann Savatt
6. Danielle Azzariti
7. Elena Ghanaim
8. Annalisa Landi
9. Yann Joly
10. Natalie Banner
11. Melissa Cline
12. Freddie Pruitt

Minutes:

JS: Thought it might be useful to reshare slides from our last meeting. The question raised for this group was that in the course of clinical genetic testing, data are generating around individual patients, and there are times where labs and clinicians can share individual level data. That information can be the difference between pathogenic or uncertain significance. There’s a lack of detail about what can be shared without explicit consent. Action items from last call was to go to the literature and think about data collection.

Literature Review

MRA: Review the key papers we found, identify common themes, and what we might want to explore further. Despite searching broadly, we realized there’s not a lot of extensive literature out there on this topic. A lot were on sharing from clinical labs to public databases.

BK: First paper looking at clinical settings to ClinVar for variant interpretation. There is an acknowledgement of the lack of guidance, and the balance required between risks of reidentification and privacy. Article proposed the potential of sharing outweighs the risk of re-identification. The article recognizes the difference between labs vs research, and that certain information should never be shared eg. patient name, DOB, etc. Group descriptions, clinical significance assertion, name of lab, etc are considered appropriate for sharing without consent.

The next article looked at MME. Recognizes again that sharing variant level data could increase diagnosis, but also recognizes sharing for clinical care vs for research which might not affect the care of the patient. Outlines a two-tiered system that is used: 1) where the matching occurs, where explicit consent is not required and considered part of care, and 2) sharing more detailed genotypic and phenotypic data that may require patient consent due to increased risk of re-identification. Broad consent may be useful, but also may not be enough.

MRA: Next article also focuses on sharing to public databases, very similar to the last in addresses tiered systems. Recognizes uncertainty around the best methods to follow, and whether de-identified data can still be considered personal data. Article echoes that call for further guidance, and acknowledges that setting unnecessarily restrictive requirements should not be favored.

Last article also favors lack of guidance. The harm of not sharing genomic data outweighs the potential of risk from sharing. Proposed that widespread sharing should become standard practice, everyone has the right to benefit. Put forward idea that explicit consent might not always be needed as it’s a barrier to sharing.

BK: Common Emerging Themes: Specific data elements for sharing individual genetic variants include: 1) a standard genetic description of the variant, 2) the variant classification and summary evidence upon which that assertion was based, 3) disease inheritance pattern, 4) standard clinical description of the high level disease phenotype and 5) link to the lab.

Variant level genomic data sharing is essential. Clinical care and research is becoming intertwined, need for clarification and transparency.

YJ: Is GA4GH or various groups the right groups to send the survey to. Are there enough people working in clinical labs or have an interest in this that we can send to? Also, I saw a growing consensus on the broad strokes - there’s certain information  that should be shared, and consider sharing without consent. What’s needed is a document that goes more granular, taking these things, and how do we proceed towards harmonization of the process.

SC: Are we surveying or getting a landscape of the available databases or programs?

YJ: I think both. We want to know who is out there and involved, and get a few answers about their practice.

JS: We would need to discuss with SC but we could disseminate through ClinGen.

MRA: Disseminate to GA4GH and broader as well.

YJ: Did anyone try to map the policies of the various clinical labs?

BK: Through the survey we’re hoping to get access to more policies.

YJ: Do we want to do a bit of a search ourselves as well. I not seeing a lack of consensus, but a lack of granularity on how to do this. I will do a search of whether there are policies/regulations that exist out there that we can draw on.

JS: I think there is consensus on public data sharing, and less about the two labs have a variant and are coming together to discuss. Resolve differences in opinion about classifications.

BK: I like how MME looks at it from that level 1 and 2 data. Would echo what you’ve said.

YJ: Are we focusing on level 2 then? Or still focus on level 1?

JS: I think level 2 is where guidance is really needed, but I don’t know if that precludes us from also making points about public sharing.

EG: Wanted to ask if one of the aims of the survey is to tease out jurisdictional or country differences

YJ: If we are going for that, not sure if the survey is the best way to get that information.

Survey

JV: Starts with an outlines of why we are doing the survey, added some text about how this would be used and that’s a GA4GH efforts. We do ask a few questions about where they work and which country. We ask them to rate their agreement on a statement about sharing, and expand on that answer. We ask about what they are sharing and with whom, types of information and they share with or without consent. The last section looks at policies, both internal and external that may guide their decisions.

YJ: The survey is focused a lot on policy, is there a need to ask questions about format? Harmonization of things that are out there?

JS: Great point, the next question after what to share is how.  

YJ: Where are we sending it, to which groups, and how to disseminate. Can work with the larger repositories mentioned in the articles.

NB (from chat):  I appreciate the aim is to identify sharing practices for the purposes of variant classification, but if we're surveying the community should we ask if they share for any other purposes beyond that? There might be some purposes that will otherwise be invisible

JS: You’re right, there could be other use cases. Do we want to include that in the overall goal of our survey, or is it a separate question.

NB: Definitely don't' want to distract from the main purpose, think it could be a supplementary qs

JS: Yann, to your point, clinical labs are the people we want to fill this out the most.

DA: Might also want to consider limiting answers from large labs, and if so, how we would do that

YJ: If qualitative, I don’t see a need to limit answers.

BK: Could generate a list and gather any additional suggestions after the call

Next Steps:

• Generate a list of labs to disseminate survey to, collect additional after the call

• Names of labs, people to contact

• One more month (~Nov.6) for commenting on the survey
• Yann to do brief search from existing policies