Genomic Medicine Governance, Ethics, Policy: A Quarterly Review
This inaugural edition begins our exploration of a quarterly digest intended to aggregate and distill key content addressing genomic sciences and genomic medicine.
To curate this digest, we will directly review a broad spectrum of peer-reviewed journals and grey literature, as well as announcements and strategic actions from various practice domains and organization types including international agencies, INGOs, governments/regulatory bodies, academic and research institutions, consortiums and collaborations, foundations, and commercial organizations. More broadly, we will utilize Google Scholar to scan the literature. We acknowledge that this scope yields an indicative and not an exhaustive digest product.
This digest is a service of the GE2P2 Global Foundation and its newly-formed Center for Genomic Medicine Governance, Ethics & Policy. The Foundation is solely responsible for its content. Comments and suggestions should be directed to:
David R Curry
GE2P2 Global Foundation
Getting genetic ancestry right for science and society
We must embrace a multidimensional, continuous view of ancestry and move away from continental ancestry categories
Anna C. F. Lewis, et al.
Science, Volume 376| Issue 6591| 22 Apr 2022
Glaring health disparities have reinvigorated debate about the relevance of race to health, including how race should and should not be used as a variable in research and biomedicine (1). After a long history of race being treated as a biological variable, there is now broad agreement that racial classifications are a product of historically contingent social, economic, and political processes. Many institutions have thus been reexamining their use of race and racism and stating intentions about how race should be used going forward. One common proposal is to use genetic concepts—in particular, genetic ancestry and population categories—as a replacement for race (2). However, the use of ancestry categories has technical limitations, fails to adequately capture human genetic diversity and demographic history, and risks retaining one of the most problematic aspects of race—an essentialist link to biology—by allowing genetic ancestry categories to stand in its place.
Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals
A genome-wide association study in ~3 million individuals identifies 3,952 independent variants associated with educational attainment. A polygenic index explains 12–16% of variance for this trait and contributes to risk prediction for ten diseases.
Aysu Okbay, Yeda Wu, Alexander I. Young
Article | 31 March 2022 | Open Access
Nature Genetics, Volume 54 Issue 4, April 2022
We conduct a genome-wide association study (GWAS) of educational attainment (EA) in a sample of ~3 million individuals and identify 3,952 approximately uncorrelated genome-wide-significant single-nucleotide polymorphisms (SNPs). A genome-wide polygenic predictor, or polygenic index (PGI), explains 12–16% of EA variance and contributes to risk prediction for ten diseases. Direct effects (i.e., controlling for parental PGIs) explain roughly half the PGI’s magnitude of association with EA and other phenotypes. The correlation between mate-pair PGIs is far too large to be consistent with phenotypic assortment alone, implying additional assortment on PGI-associated factors. In an additional GWAS of dominance deviations from the additive model, we identify no genome-wide-significant SNPs, and a separate X-chromosome additive GWAS identifies 57.
Expanding global access to genetic therapies
AWT Muigai, School of Biological Sciences, Jomo Kenyatta University of Agriculture and Technology, Nairobi, Kenya
World View, Published: 07 January 2022
Nature Biotechnology, 40, pages 20–21 (2022)
…The era of genetic therapies — both gene-editing treatments and gene therapies, several of which are now on the market — has arrived for rare disease. But as more of these therapies come online, it is time to explore how current business models based on patents and restrictive licensing limit access to treatments. It is also time to explore whether there are other ways in which patents can still reward innovators and protect investments while ensuring that the widest number of patients who need these treatments can receive them…
Comparison of public discussions of gene editing on social media between the United States and China
J Ji, M Robbins, JD Featherstone, C Calabrese… –
PloS ONE, Published: May 2, 2022, https://doi.org/10.1371/journal.pone.0267406
The world’s first gene-edited babies event has stirred controversy on social media over the use of gene editing technology. Understanding public discussions about this controversy will provide important insights about opinions of science and facilitate informed policy decisions. This study compares public discussion topics about gene editing on Twitter and Weibo, as well as the evolution of these topics over four months. Latent Dirichlet allocation (LDA) was used to generate topics for 11,244 Weibo posts and 57,525 tweets from September 25, 2018, to January 25, 2019. Results showed a difference between the topics on Twitter versus Weibo: there were more nuanced discussions on Twitter, and the discussed topics between platforms focused on different areas. Temporal analysis showed that most discussions took place around gene-edited events. Based on our findings, suggestions were provided for policymakers and science communication practitioners to develop more effective communication strategies toward audiences in China and the U.S.
Balancing openness with Indigenous data sovereignty: An opportunity to leave no one behind in the journey to sequence all of life
AM Mc Cartney, J Anderson, L Liggins, et al.
PNAS, January 18, 2022, 119 (4) e2115860119
The field of genomics has benefited greatly from its “openness” approach to data sharing. However, with the increasing volume of sequence information being created and stored and the growing number of international genomics efforts, the equity of openness is under question. The United Nations Convention of Biodiversity aims to develop and adopt a standard policy on access and benefit-sharing for sequence information across signatory parties. This standardization will have profound implications on genomics research, requiring a new definition of open data sharing. The redefinition of openness is not unwarranted, as its limitations have unintentionally introduced barriers of engagement to some, including Indigenous Peoples. This commentary provides an insight into the key challenges of openness faced by the researchers who aspire to protect and conserve global biodiversity, including Indigenous flora and fauna, and presents immediate, practical solutions that, if implemented, will equip the genomics community with both the diversity and inclusivity required to respectfully protect global biodiversity.