GDO/GA4GH GD Subgroup Meeting

Meeting Agenda

Date: 7 May, 2025 at 10:00AM (ET)

Meeting Chair: Yann Joly, Prof.

Zoom meeting ID: 811 7765 5145

Passcode: GA4GH

Zoom link: here

Presentation: presentation

Zoom Recording:

Attendees

Meeting Minutes:

Welcome

YJ welcomed everyone and provided a background on the work that has led to the development of the GD position statement.

DU then provided an update on the two papers that have been published: The Key Features of a Genetic Nondiscrimination Policy — A Delphi Consensus Statement and A proposal for an inclusive working definition of genetic discrimination to promote a more coherent debate. She then guided the discussion to the position statement.

Position Statement

DU began by providing the rationale behind the position statement, which was built on stakeholder interviews, reports, literature reviews and the Delphi survey results. DU highlighted the position statement’s aims to put out recommendations that key stakeholders (policymakers, genetic researchers, geneticists, healthcare workers in genetics, genetic counsellors, patients, research participants and members of the public) can take.

Discussion

Following DU’s presentation, YJ opened the floor for comments and questions. MR suggested including standards for data deletion requests, noting that current legal frameworks (e.g., HIPAA) offer limited pathways for data deletion and that global variation warrants careful contextualization. YJ and AP agreed that privacy concerns are foundational to preventing discrimination and agreed to mention it in the background context. AP clarified that under HIPAA, patients may request data correction but not deletion, noting further that some state laws may offer deletion mechanisms without clear procedural guidance. Aisling de Paor (AdP) added that the GDPR provides stronger data protections and supported including privacy as a primary shield. AdP also emphasized the value of non-legislative strategies, including public engagement, education, and awareness-raising.

AP expressed support of the statement, but flagged definitional ambiguity that could be clarified around the need to create a platform to monitor GD. She highlighted the slippery slope between genetic and symptomatic conditions, citing the need for nuanced criteria in future reporting tools. YJ agreed this could be addressed in a table rather than within the recommendations. MR raised the distinction between race, ethnicity, and ancestry in clinical settings, noting that founder variant screening often relies on ancestral origin rather than identity. Athira P.S. (Athira) questioned the phrasing "local tailoring" when considering national legislation, noting its ambiguity and potential to imply unchecked national discretion. YJ agreed and emphasized the need to strike a balance—acknowledging legal and cultural variation without diluting core human rights protections.

Considering the impact of GD on groups, MR raised the need to distinguish ancestry from race and ethnicity, noting that ancestral origin often guides clinical testing more accurately than sociocultural labels. YJ agreed the issue is complex, with ethnicity still widely used in policy and inclusion efforts, despite its limitations. The group acknowledged this as a key topic for future work on group-level discrimination, opting not to define terms narrowly in the current statement.

Athira agreed, but suggested including diverse examples of intersecting discrimination, such as caste in the Indian context, to illustrate how genetic discrimination compounds with other social factors beyond race or gender. YJ and DU supported the idea and agreed it would strengthen the statement’s relevance across global contexts.

Meeting Close

YJ then thanked everyone for their time and closed the session, suggesting that the group would revise the statement and share the revised draft in June, when the group will next meet.

Key Takeaways:

• Genetic discrimination is a growing concern and a set of recommendations can help guide efforts to prevent the phenomenon.
• Given intersectionality, particularly beyond race and ethnicity (e.g., caste, gender), it is important to consider the different ways in which GD can compound other forms of discrimination.
• GD will require monitoring, but conceptual clarity and international collaboration will be necessary to take it forward.

Next Steps:

1. A 2.0 version position statement draft will be circulated for comments for the next 2 weeks.
2. A follow-up meeting will be scheduled after the review period in June.
3. Future work will explore group-level harms and how identity categories are constructed in research.