Evaluating the Effectiveness of a Telehealth Cancer Genetics Program: A BRCA Pilot Study.
Rose Esther et al. Public health genomics 2022 8 1-14
Ashkenazi Jewish (AJ) individuals face a 1 in 40 (2.5%) risk of having a BRCA mutation, which is 10 times the general population risk. JScreen launched the PEACH BRCA Study, a telehealth-based platform for BRCA education and testing, with the goal of creating an effective model for BRCA testing in low-risk AJ individuals who do not meet national testing criteria. This study established interest in broader cancer genetic testing through a telehealth platform and suggested that testing may be successful in the Jewish community at a national level and potentially in other populations, provided that patient education and genetic counseling are adequately incorporated.
Genetic counseling for prion disease: Updates and best practice
JS Goldman, et al, Genetics in Medicine, July 12, 2022
Several recent developments inspire this update in best practices for prion disease genetic counseling. A new prion-detection assay has transformed symptomatic diagnosis. Meanwhile, penetrance, age of onset, and duration of illness have been systematically characterized across PRNP variants in a global cohort. Clinically, the traditional genotype–phenotype correlation has weakened over time, and the term genetic prion disease may now better serve providers than the historical subtypes Creutzfeldt-Jakob disease, fatal familial insomnia.
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.
Select one or more Specialty Area(s)
Cancer Genetics (includes cancer risk assessment, screening or prevention; hereditary/familial cancer)
General Genetics (includes Medical Genetics and Birth Defects)
Prenatal Genetics (includes prenatal diagnosis, antenatal testing and perinatal genetics)
Reproductive Genetics (includes preconception genetic services)
Genomics and Health Equity: Reaching Asian American, Native Hawaiian, and Pacific Islander Communities
Z Chen et al, CDC Blog Post, June 7, 2022
While Asian American, Native Hawaiian, and Pacific Islander Heritage Month has ended, we continue to examine the health disparities AA and NHPI communities may experience. Today, we reflect on the disparities in the implementation of genomics and precision medicine. For example, a recent systematic review by Young and colleagues found that Asian American women were less likely to be referred for genetic services than White Non-Hispanic women but were more likely to undergo genetic counseling and genetic testing (GC/GT) for any genetic condition despite the access challenges. The review also revealed that Asian Americans’ family members were less likely to be informed of the results from GT and risk information than other racial groups, although they had been involved in testing decisions.