Skip directly to search Skip directly to A to Z list Skip directly to navigation Skip directly to page options Skip directly to site content

Search PHGKB:

Last Posted: Aug 04, 2022
spot light Highlights

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, 2022

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. Select one or more Specialty Area(s) Adult Genetics Cancer Genetics (includes cancer risk assessment, screening or prevention; hereditary/familial cancer) Cardiovascular Genetics General Genetics (includes Medical Genetics and Birth Defects) Genetic Counseling Metabolic Neurogenetics Pediatric Genetics Prenatal Genetics (includes prenatal diagnosis, antenatal testing and perinatal genetics) Reproductive Genetics (includes preconception genetic services)

Disclaimer: Articles listed in the Public Health Genomics and Precision Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.