Genome sequencing of large numbers of individuals promises to advance the understanding, treatment, and prevention of human diseases, among other applications. We describe a genome sequencing platform that achieves efficient imaging and low reagent consumption with combinatorial probe anchor ligation chemistry to independently assay each base from patterned nanoarrays of self-assembling DNA nanoballs. We sequenced three human genomes with this platform, generating an average of 45- to 87-fold coverage per genome and identifying 3.2 to 4.5 million sequence variants per genome. Validation of one genome data set demonstrates a sequence accuracy of about 1 false variant per 100 kilobases. The high accuracy, affordable cost of $4400 for sequencing consumables, and scalability of this platform enable complete human genome sequencing for the detection of rare variants in large-scale genetic studies.

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We successfully transplanted and serially perpetuated human head and neck tumors in nude mice by using tumor tissue derived from 10 of 14 (71%) independently obtained surgical specimens. Tumor growth was achieved with specimens derived from cancers of the floor of the mouth, hypopharynx, and larynx. Tumors in nude mice retained their histological stage of differentiation and human species origin. Prompted by reports of increased estrogen receptors in laryngeal carcinomas, we tested the effect of estradiol treatment on the growth of laryngeal tumor implants. Time to tumor formation was decreased and tumor size was increased in estradiol-treated animals relative to placebo-treated animals. The results demonstrate that estradiol treatment potentiates growth of laryngeal tumors in nude mice. This tumor model can also be used to evaluate antihormonal therapy in the treatment of some laryngeal carcinomas.

Background The National Committee on Quality Assurance’s Healthcare Effectiveness Data and Information Set on Comprehensive Diabetes Care requires patients with diabetes obtain a hemoglobin A1c (Hb A1c) and urine albumin-to-creatinine ratio (ACR) test every year. To improve these measures, managed care organizations (MCOs) rely on claim and prescription data to identify members for care management. TriCore Reference Laboratories collaborated with Blue Cross Blue Shield of New Mexico (BCBSNM) to determine if laboratory information would augment BCBSNM’s diabetes care management services. Method In January 2018, BCBSNM provided its Medicaid enrollment file to TriCore for identifying members and determining their diabetes status by evaluating their recent Hb A1c results. Of the 6,138 members with diabetes, a random sample of 600 was extracted, and half were provided to BCBSNM to perform care management from January 18 to May 1, 2018. Completion of Hb A1c and ACR were measured. Results Significantly more (P = 0.03) study group members (25%) than control group members (18%) received an Hb A1c test. The study group (14%) also received more ACR tests than the control group (9%; P = 0.07). We then calculated the monetary penalty to which New Mexico Medicaid MCOs are subject, leading to the identification of additional value ($3,693,000) that clinical laboratories provide beyond the cost per test. Conclusion Clinical laboratories play a critical role in healthcare, and this article demonstrates an approach for laboratories to collaborate with MCOs in their care management efforts. In addition, we calculate the value of this novel collaboration, which may play an integral role in laboratories’ pursuit of value-based care.

Objective: To evaluate, using longitudinal laboratory data, potential care gaps, and the prevalence of anemia in pregnant women residing in New Mexico, USA.Methods: A total of 985 pregnant women aged 13-60 were included from December 1, 2018 to December 1, 2019. Parameters included frequency of CBC, iron studies, reticulocyte panel, prevalence of anemia, iron deficiency anemia (IDA), iron deficiency (ID), anemia change throughout pregnancy, and ICD-10 codes utilization.Results: CBC was completed in 896/985 (91%) of the sample population in the first trimester and 528/985 (53.6%) in the third trimester. Two hundred and fifty-two (25.6%) women had anemia at any given point during pregnancy. ID was prevalent in 1.3% of women in the first trimester and 1.0% in the third, while IDA was prevalent in 0.4% in their first trimester and 5.5% in the third. Data also show an overall worsening of anemia from first to third trimester (2.8% and 40.9%, respectively, p < .0001). A positive correlation was found between mean corpuscular volume (MCV) and reticulocyte hemoglobin (RET-He) (r = .8592, 95% CI 0.7475 to 0.9237). Conclusion:Test utilization for anemia screening during pregnancy can be improved to guide patient management to reduce anemia rate and potential anemia-associated complications.