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Last Posted: Oct 04, 2024
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Screening Familial Risk for Hereditary Breast and Ovarian Cancer

From the abstract: "In a large health system, how many ungenotyped patients meet family history genetic testing criteria for hereditary breast and ovarian cancer? In this cross-sectional analysis, 2.9% of patients had no evidence of prior genetic testing but had electronic health records indicating they met family history criteria. These criteria were associated with significantly increased prevalence of genetic risk variants among 38?003 genotyped patients. These findings suggest that substantial gaps exist in identifying and testing patients meeting family history criteria for hereditary breast and ovarian cancer, and other methods may be needed to close these gaps. "

Global health for rare diseases through primary care

From the article: " Genetic testing shows promise in diagnosing people with rare diseases, as over 72% of rare diseases have a genetic basis. Next-generation sequencing and other technologies have facilitated the time-effective and cost-effective diagnosis of most genetic diseases, but substantial challenges hinder widespread adoption. The lack of genetic workforce capacity is a global concern, even in high-income countries, with many regions and countries lacking sufficient genetic expertise. The low reimbursement by governments and private insurers for genetic services also poses an additional barrier. The combination of these factors prevent primary care providers from referring people with suspected rare disease to specialists, which delays diagnosis and treatment. "

Implications of Provider Specialty, Test Type, and Demographic Factors on Genetic Testing Outcomes for Patients with Autism Spectrum Disorder

From the abstract: "A minority of patients with autism spectrum disorder (ASD) are offered genetic testing by their providers or referred for genetics evaluation despite published guidelines and consensus statements supporting genetics-informed care for this population. This study aimed to investigate the ordering habits of providers of different specialties and to additionally assess the diagnostic utility of genetic testing by test type, patient sex, and race and ethnicity. "

Family communication of cancer genetic test results in an ethnically diverse population: a qualitative exploration of more than 200 patients

From the abstract: " Previous research on family communication of cancer genetic test results has primarily focused on non-Hispanic White patients with high-risk pathogenic variants (PV). There are limited data on patient communication of moderate-risk PVs, variants of uncertain significance (VUS), and negative results. This qualitative study examined communication of positive, negative, and VUS hereditary cancer multi-gene panel (MGP) results in an ethnically and socioeconomically diverse population. "


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.

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