Supporting undiagnosed participants when clinical genomics studies end.
Halley Meghan C et al. Nature genetics 2022 7
Many large research initiatives have cumulatively enrolled thousands of patients with a range of complex medical issues but no clear genetic etiology. However, it is unclear how researchers, institutions and funders should manage the data and relationships with those participants who remain undiagnosed when these studies end. In this Comment, we outline the current literature relevant to post-study obligations in clinical genomics research and discuss the application of current guidelines to research with undiagnosed participants.
The deceptive simplicity of mendelian genetics.
McLysaght Aoife et al. PLoS biology 2022 7 (7) e3001691
Mendel, a genius experimentalist, meticulously uncovered the genetic basis of heredity in work that transformed the science of biology. But does the alluring simplicity of Mendel’s laws sometimes obscure the true complexity of genetics? We are not mere vessels for our genes. Humans, uniquely, and starting with Mendel, are the only species that has developed an understanding of heredity and how genetic information is transmitted across generations and how genes help shape all biological life on this planet. Though we describe supposed single-gene deterministic traits as “mendelian,” I know of no evidence that suggests Mendel himself conceived of such a fanciful system.
Accelerating access to genomics for global health: promotion, implementation, collaboration, and ethical, legal, and social issues: a report of the WHO Science Council
WHO, July 2022
This publication presents the recommendations of the WHO Science Council to the Director-General on accelerating access to genomics for global health. A series of workshops was held in 2021 to gather information and perspectives on this topic. Fifteen actions are recommended to achieve the goal of accelerating access to genomics for global health.
Find a Genetic Clinic
ACMG's "Find a Genetics Clinic" allow individuals to search for genetics clinics across the United States. The directory contains the locations of genetics clinics that have requested to be listed.
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Reproductive Genetics (includes preconception genetic services)