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May 16, 2022

Last Posted: May-16-2022 10:36:36

Researchers identify the high costs of living with sickle cell disease Potential curative therapies may help reduce the burden, but are also costly.
NIH, May 16, 2022

Americans ages 64 and younger with commercial health insurance who live with sickle cell disease (SCD) pay almost four times more in out-of-pocket medical costs over their lifetimes, a total of $44,000, compared to people living without the disease. And insurers pay $1.7 million on average for each person living with SCD, according to new research supported by the National Institutes of Health. The healthcare spending analysis underscored the significant financial toll that sickle cell disease, an inherited blood condition, has on patients, their families, and the healthcare system.

Can polygenic risk scores contribute to cost-effective cancer screening? A systematic review
P Dixon et al, Genetics in Medicine, May 16, 2022

Despite the positive conclusions of the studies included in this systematic review, it is unclear if polygenic risk stratification will contribute to cost-effective cancer screening given the absence of robust evidence on the costs of polygenic risk stratification, the effects of differential ancestry, potential downstream economic sequalae, and how large volumes of polygenic risk data would be collected and used.

An Artificial Intelligence-guided signature reveals the shared host immune response in MIS-C and Kawasaki disease
P Ghosh et al, Nature Comms, May 2022

We compare the two syndromes using a computational toolbox of two gene signatures that were developed in the context of SARS-CoV-2 infection, i.e., the viral pandemic (ViP) and severe-ViP signatures and a 13-transcript signature previously demonstrated to be diagnostic for KD, and validated our findings in whole blood RNA sequences, serum cytokines, and formalin fixed heart tissues. Results show that KD and MIS-C are on the same continuum of the host immune response as COVID-19. Both the pediatric syndromes converge upon an IL15/IL15RA-centric cytokine storm, suggestive of shared proximal pathways of immunopathogenesis

Recommendations for whole genome sequencing in diagnostics for rare diseases
E Souche et al, EJHG, May 16, 2022

EuroGentest is a European initiative, aiming to promoting accurate, reliable and high-quality genetic diagnostics across Europe. The aim of these recommendations is primarily to list the points to consider for clinical (laboratory) geneticists, bioinformaticians, and (non-)geneticists, to provide technical advice, aid clinical decision-making and the reporting of the results.

A unique service: how an embedded psychology team can help patients and genetics clinicians within a clinical genetics service
C Firth et al, EJHG, May 16, 2022

There are many advantages to having an embedded psychology service both for patients and genetics clinicians, such as good opportunities for liaising around referrals and conducting joint clinical sessions, as well as being easily able to identify psychological training needs. Clinical psychologists can play a highly integral and essential role in the provision of psychosocial support for clinical genetics teams and provide an overview of the first such integrated clinical psychology service within clinical genetics in the United Kingdom.


Hot Topics of the Day are picked by experts to capture the latest information and publications on public health genomics and precision health for various diseases and health topics. Sources include published scientific literature, reviews, blogs and popular press articles.

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Disclaimer: Articles listed in Hot Topics of the Day are selected by the CDC Office of Public Health Genomics to provide current awareness of the scientific 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 Clips, 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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