Setting up a laboratory stewardship program | Researchers link RFX6 gene mutation to new form of diabetes | Genetic tests help physicians be proactive about CRC
October 17, 2017
AACC SmartBrief
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Setting up a laboratory stewardship program
When starting or improving a lab stewardship program, it's important to consider interventions, governance, strategies for improvement, and data extraction and monitoring. "The obvious place to begin is to put together a multidisciplinary laboratory stewardship committee" that is "linked to leadership by including the chief medical officer and chief financial officer (CFO) or their designees as key members," says Jane Dickerson, director of reference lab services at Seattle Children's Hospital.
Clinical Laboratory News (10/2017) 
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7 keys: Put real-world evidence into action
Life sciences organizations need to know how their therapies work in the real world once clinical trials end. And these seven key components to standardizing real-world data and analytics platforms are how they get started. Read the paper, Institutionalizing Real World Evidence.
Science Briefs
Researchers link RFX6 gene mutation to new form of diabetes
Individuals carrying a mutation in the RFX6 gene were more likely to develop maturity-onset diabetes of the young and had reduced insulin secretion and reduced production of the hormone GIP, according to a study in Nature Communications. Researchers used rare-variant association testing to identify RFX6-MODY and found that Finnish patients had a 10-fold higher frequency of having heterozygous RFX6 protein-truncating variants than non-Finnish European patients.
Cardiovascular Business online (10/12) 
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Genetic tests help physicians be proactive about CRC
Gastroenterologists can be proactive about fighting colorectal cancer by knowing who should get genetic testing, when tests should occur, and the implications of the results, says Elena Stoffel of the Cancer Genetics Clinic at the University of Michigan. "The key point to making these strategies of universal screening of colorectal cancer cases for the possibility of genetic syndromes rests in being able to test other relatives before their cancer diagnoses in order to identify individuals who need early intervention and prevent cancers," Stoffel said.
Healio (free registration) (10/13) 
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Genetics interact with breastfeeding, NICU admission to affect EoE risk
Infants with the CAPN14 gene variant who were breastfed had a 92% lower risk of eosinophilic esophagitis, while those who did not have the gene variant LOC283710/KLF13 and were admitted to a NICU had a higher risk for the disorder, according to a study in the Journal of Allergy and Clinical Immunology. Researcher Elizabeth Jensen said the mechanism of protection linked to breastfeeding is unknown, but the CAPN14 variant is associated with barrier function in the gut, so breast milk may have a role in disease prevention.
Healio (free registration) (10/11) 
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Tech Briefs
Apps are the future of DNA sequencing, experts predict
Trends in genetic sequencing will be driven not by innovative technology, but by innovative applications, write three experts in the field of genetics and genomics. A lack of analysis and interpretation tools impedes the progress of genomics, but "just as new informatics approaches and massive data sets have dramatically improved language translation and image recognition, we predict that massive DNA-sequence data sets coupled with phenotypic information will enable researchers to deduce the biological functions encoded within genome sequences," they write.
Nature (free content) (10/11) 
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Policy Briefs
Thermo Fisher scores reimbursement win for NSCLC companion Dx
Regence Blue Cross Blue Shield has issued a positive coverage decision for Thermo Fisher Scientific's Oncomine Dx Target Test, a next-generation sequencing-based companion diagnostic designed for simultaneous evaluation of 23 genes linked to non-small cell lung cancer. The decision makes the test available to the insurer's members in Idaho, Oregon, Utah and some Washington state counties.
GenomeWeb Daily News (free registration) (10/16) 
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Hospitals to receive payment adjustments for failure to show EHR MU attestation
The CMS warned that as of Oct. 1, eligible hospitals that are not meaningful EHR users during the fiscal year 2018 reporting period will receive Medicare payment reductions for that year. "This payment adjustment is applied as a reduction to the applicable percentage increase to the Inpatient Prospective Payment system rate, thus reducing the update to the IPPS standardized amount for these hospitals," the CMS said.
Health Data Management (10/11) 
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Business/Corporate Briefs
Ortho Clinical teams up with EKF Diagnostic on ketoacidosis assay
Ortho Clinical Diagnostics entered into an agreement with EKF Diagnostics to expand patient access to EKF's beta-hydroxybutyrate assay for ketoacidosis diagnosis, making the assay available for use on Ortho's Vitros 5600 integrated system and Vitros 4600 chemistry system. The companies also seek to offer the BHB assay as a validated MicroTip Partnership Assay.
360Dx (tiered subscription model) (10/11) 
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Cell-free DNA Prenatal Aneuploidy Screening: New Opportunities and Considerations
Join AACC on Oct. 25 to gain new insights on approaches that incorporate cell-free DNA analysis into routine prenatal-screening protocols.
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Discounted registration: Emerging Clinical & Laboratory Diagnostics in the Healthcare Ecosystem Conference
Join AACC on Nov. 9-10 in San Diego and discover the advances in emerging technologies in diagnostic tools while collaborating with scientists from non-clinical settings. Register now and receive a discounted rate of $299. Enter promo code 228 at checkout.
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