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Last Posted: Jun 04, 2023
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Genetic Counseling Under the Microscope: Expanding the Scope of the Profession through Research Initiatives and Educational Opportunities
J Goehringer, NSGC, June 2023

Geisinger initiated a population health genomic screening program in 2007, now known as the MyCode Community Health Initiative. Adults and children (with or without personal or family history of genetic disease) have received genetic testing results through this program. Numerous qualitative research projects have stemmed from MyCode, which have improved our understanding of these lived experiences.

Potential utility of risk stratification for multicancer screening with liquid biopsy tests
ES Kim et al, NPJ Precision Oncology, April 22, 2023

We develop and validate sex-specific pan-cancer risk scores (PCRSs), defined by the combination of body mass index, smoking, family history of cancers, and cancer-specific polygenic risk scores (PRSs), to predict the absolute risk of developing at least one of the many common cancer types. We demonstrate the added value of PRSs in improving the predictive performance of the risk factors only model and project the positive and negative predictive values for two promising multicancer screening tests across risk strata defined by age and PCRS.

Expanding Family Health History to Include Family Medication History
SB Haga et al, J Per Med, Feb 2023

The collection of family health history (FHH) is an essential component of clinical practice and an important piece of data for patient risk assessment. However, family history data have generally been limited to diseases and have not included medication history. Family history was a key component of early pharmacogenetic research, confirming the role of genes in drug response. With the substantial number of known pharmacogenes, many affecting response to commonly prescribed medications, and the availability of clinical pharmacogenetic (PGx) tests and guidelines for interpretation, the collection of family medication history can inform testing decisions.

Risk of Sudden Infant Death Syndrome Among Siblings of Children Who Died of Sudden Infant Death Syndrome in Denmark.
Charlotte Glinge et al. JAMA network open 2023 1 (1) e2252724

Is a family history of sudden infant death syndrome (SIDS) associated with increased risk of subsequent SIDS compared with the general population? In this cohort study of more than 2.6 million consecutive births in Denmark between 1978 and 2016, a total of 1540 infants died of SIDS. A higher rate of SIDS was observed among siblings of children who died of SIDS compared with the general population. These findings suggest that any sibling of a child who died of SIDS should be investigated with great care to exclude genetic and environmental factors.

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.