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Last Posted: Jun 01, 2023
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The future is mainstream: genetic counselling should be embedded in mainstream medicine
E Quinn, EJHG, June 1, 2023

With genomic testing playing such a vital role in guiding both diagnosis and treatment, we can reasonably expect demand to further increase. The question remains how we can offer testing at scale whilst ensuring that patients receive appropriate levels of holistic care: facilitating informed consent, supporting patient understanding and processing of genomic results and establishing appropriate follow-up for family members.

Offering genetic testing at the point of care may increase uptake
Medical Xpress, May 3, 2023

Genetic testing for hereditary cancers, such as breast, colon, pancreatic, and ovarian cancer, helps at-risk individuals understand their familial risk for these diseases and make informed decisions about next steps in care. But fewer than 20 percent of at-risk patients utilize this testing, and even fewer engage in genetic counseling after referral, often due to clinical workflow challenges or barriers to care. A new study researchers haveidentified a streamlined approach in clinical settings that may help advance these efforts by simplifying the process of identifying hereditary cancer risk and determining subsequent care.

Communicating risk and the landscape of cancer prevention - an exploratory study that examines perceptions of cancer-related genetic counseling and testing among African Americans and Latinos in the Midwest.
Crystal Y Lumpkins et al. Journal of community genetics 2023 3 1-13

Six focus groups were held with a pilot sample of African Americans and Latinos who self-reported to be at-risk for cancer (N?=?53). Themes that emerged included (1) the lack of knowledge about cancer-related genetic counseling and testing; (2) cancer is feared often; (3) cancer-related genetic testing was perceived as something that could help but was also perceived as unnecessary testing that exposed individuals to medical harm; and (4) benefits to test were perceived as favorable for medical personnel but not for the patient.

Approaches to Genetic Screening in Cardiomyopathies: Practical Guidance for Clinicians.
Amy R Kontorovich et al. JACC. Heart failure 2023 2 (2) 133-142

Patients and families benefit when the genetic etiology of cardiomyopathy is elucidated through a multidisciplinary approach including genetic counseling and judicious use of genetic testing. The yield of genetic testing is optimized when performed on a proband with a clear phenotype, and interrogates genes that are validated in association with that specific form of cardiomyopathy. Variants of uncertain significance are frequently uncovered and should not be overinterpreted.

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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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