Posted: Sep 29, 2022
Incomplete Penetrance of Population-Based Genetic Screening Results in Electronic Health Record
G Elhanan et al, Frontiers in Genetics, April 2022
The clinical value of population-based genetic screening projects depends on the actions taken on the findings. The Healthy Nevada Project (HNP) is an all-comer genetic screening and research project based in northern Nevada. HNP participants with CDC Tier 1 findings of hereditary breast and ovarian cancer syndrome (HBOC), Lynch syndrome (LS), or familial hypercholesterolemia (FH) are notified and provided with genetic counseling. However, the HNP subsequently takes a “hands-off” approach: it is the responsibility of notified participants to share their findings with their healthcare providers, and providers are expected to implement the recommended action plans.
Paired Tumor-Germline Testing as a Driver in Better Cancer Care
JW Henson et al, JAMA Network Open, May 20, 2022
Paired tumor-germline testing can lead to better treatment choices. Hereditary cancer syndromes are caused by inactivated tumor suppressor genes. By comparison, activated oncogenes are poorly tolerated during embryonic development. Variant tumor suppressor genes and their inactive protein products are more challenging to target than are activated oncogenes. Attention thus turns from the gene itself to the aberrant downstream molecular pathway and subsequent effects of the pathway. Two notable examples are the use of checkpoint inhibitors to target high tumor mutation burdens from tumors related to a defective mismatch repair pathway (ie, Lynch syndrome when originating in germline) and poly adenosine diphosphate ribose polymerase inhibitors to exploit single-strand breaks from tumors related to the homologous repair/BRCA pathway (ie, hereditary breast and ovarian cancer syndrome when originating in germline).
A Mini-Symposium: Implementing Precision and Equitable Public Health in Cascade Testing for Genetic Disorders
CDC event, Feb 10, 2022
While there are Tier 1 evidence-based guidelines supporting cascade testing for hereditary breast and ovarian cancer syndrome, Lynch syndrome, familial hypercholesterolemia, and other genetic disorders, the focus is on whether such testing should be done, rather than how to implement cascade testing in practice, both effectively and equitably. Before the full potential health impact of cascade genetic testing can be reached, we must develop a much stronger understanding of which component procedures and practices work best, and then leverage those good practices toward delivering precision public health. This two-hour virtual mini-symposium will explore several efforts to better understand what works well in programs relevant to cascade testing for genetic disorders.