Carrie Blout

Mutations in PCYT1A, Encoding a Key Regulator of Phosphatidylcholine Metabolism, Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy

The spondylometaphyseal dysplasias (SMDs) are a group of about a dozen rare disorders characterized by short stature, irregular, flat vertebrae, and metaphyseal abnormalities. Aside from spondylometaphyseal dysplasia Kozlowski type (MIM 184252) caused by mutations in TRPV4 (MIM 605427) and spondyloenchondrodysplasia (MIM 607944) resulting from mutations in ACP5 (MIM 171640), the genetic etiologies of SMDs are unknown. 1 Two of these unexplained SMDs have ophthalmologic manifestations: SMD with cone-rod dystrophy (SMD-CRD [MIM 608940]) and axial SMD with retinal degeneration (MIM 602271). Delineated clinically a decade ago, SMD-CRD is a presumed autosomal-recessive disorder with postnatal growth deficiency leading to profound short stature; rhizomelia with bowing of the lower extremities; platyspondyly with anterior vertebral protrusions; progressive metaphyseal irregularity and cupping with shortened tubular bones; and early-onset, progressive visual impairment associated with a pigmentary maculopathy and electroretinographic evidence of cone-rod dysfunction. 2‐5 In contrast to retinitis pigmentosa, the CRDs have early involvement of cone photoreceptors. 6

Short-term costs of integrating whole-genome sequencing into primary care and cardiology settings: a pilot randomized trial

PurposeGreat uncertainty exists about the costs associated with whole-genome sequencing (WGS).MethodsOne hundred cardiology patients with cardiomyopathy diagnoses and 100 ostensibly healthy primary care patients were randomized to receive a family-history report alone or with a WGS report. Cardiology patients also reviewed prior genetic test results. WGS costs were estimated by tracking resource use and staff time. Downstream costs were estimated by identifying services in administrative data, medical records, and patient surveys for 6 months.ResultsThe incremental cost per patient of WGS testing was

A Comparison of Whole Genome Sequencing to Multigene Panel Testing in Hypertrophic Cardiomyopathy PatientsCLINICAL PERSPECTIVE

5,098 in cardiology settings and

Automated typing of red blood cell and platelet antigens: a whole-genome sequencing study

5,073 in primary care settings compared with family history alone. Mean 6-month downstream costs did not differ statistically between the control and WGS arms in either setting (cardiology: difference = −

The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial

1,560, 95% confidence interval −

A Comparison of Whole Genome Sequencing to Multigene Panel Testing in Hypertrophic Cardiomyopathy Patients

7,558 to

Pharmacogenomics in the U.S. Air Force: Development of a Tailored Panel for the MilSeq Project

3,866, p = 0.36; primary care: difference = 

Special Considerations for Genomic Sequencing Research in the United States Air Force: Development of the MilSeq Project

681, 95% confidence interval −

Whole-genome sequencing in primary care

884 to