May 16, 2022

Sickle Cell

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.

Genetic Risk Score

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.

Transcriptomics

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

Prenatal Testing

Whole Genome Sequencing

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.

Genomic Medicine

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.