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Accessing Genomic Medicine Affordability, Diffusion, and Disparities...

Advances in the understanding of the genome, combined with affordable sequencing techniques and innovations in drug development, are ushering in an era of molecular diagnostics and individualized...

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The Indispensable Role of Professional Judgment in Genomic Medicine...

Whole-genome sequencing and whole-exome sequencing (WGS/WES) have become increasingly affordable and accessible to individuals. There are currently 3 main pathways through which a person can receive...

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New Approaches to Molecular Diagnosis New Approaches to Molecular Diagnosis

Advances in understanding the molecular basis of rare and common disorders, as well as in the technology of DNA analysis, are rapidly changing the landscape of molecular genetic and genomic testing....

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Molecular Testing in Thyroid Cancer BRAF Mutation Status and Mortality...

Thyroid cancer is the ninth most common cancer in the United States, with an incidence that has been increasing sharply since the mid-1990s. The majority of thyroid cancers are papillary thyroid...

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From JAMA ’s Daily News Site From JAMA's Daily News Site

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Return of Secondary Genomic Findings vs Patient Autonomy Implications for...

In April 2013, the American College of Medical Genetics (ACMG) recommended that clinical laboratories conducting whole genome sequencing (WGS) and whole exome sequencing (WES) for specific clinical...

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Reporting Genomic Sequencing Results to Ordering Clinicians Incidental, but...

Should incidental findings discovered with whole-genome sequencing or testing be sought and reported to ordering clinicians and to patients (or their surrogates)?—Yes.

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Mandatory Extended Searches in All Genome Sequencing “Incidental Findings,”...

Should incidental findings discovered with whole-genome sequencing or testing be sought and reported to ordering clinicians and to patients (or their surrogates)?—No.

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Supreme Court Rules Against Gene Patents Medical News & Perspectives

The US Supreme Court’s much awaited decision in mid-June that naturally occurring genes cannot be patented immediately sent waves through the market for genetic testing. Within hours, competitors of...

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From JAMA ’s Daily News Site

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What Is the Public’s Right to Access Medical Discoveries Based on Federally...

Many important medications available today have been developed with public dollars and are costly to patients and other payers. Manufacturers justify these prices on the basis of the substantial...

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Clinical Interpretation and Implications of Whole-Genome Sequencing

ImportanceWhole-genome sequencing (WGS) is increasingly applied in clinical medicine and is expected to uncover clinically significant findings regardless of sequencing indication.ObjectivesTo examine...

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Clinical Application of Whole-Genome Sequencing Proceed With Care

Stunning advances have been made over the last 5 years in the ability to rapidly and inexpensively detect variation in the human genome. In the mid-2000s massively parallel detection of...

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Using Multiplexed Assays of Oncogenic Drivers in Lung Cancers to Select...

ImportanceTargeting oncogenic drivers (genomic alterations critical to cancer development and maintenance) has transformed the care of patients with lung adenocarcinomas. The Lung Cancer Mutation...

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Non–Small Cell Lung Cancer and Precision Medicine A Model for the...

Lung cancer remains the leading cause of cancer death in the United States. It is estimated that 228 190 patients were diagnosed with the disease and 159 480 died of lung cancer in 2013. Historically,...

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Controlling the Metabolic Roller Coaster in Diabetes

Diabetes mellitus is caused by the loss of endogenous glucose regulation, leading to fasting hyperglycemia and superimposed glucose elevations with meals. Attempts to restore glucose levels to within...

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Nonmyeloablative HLA-Matched Sibling Allogeneic Hematopoietic Stem Cell...

ImportanceMyeloablative allogeneic hematopoietic stem cell transplantation (HSCT) is curative for children with severe sickle cell disease, but toxicity may be prohibitive for adults. Nonmyeloablative...

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Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple...

ImportanceMitochondrial disorders have emerged as a common cause of inherited disease, but their diagnosis remains challenging. Multiple respiratory chain complex defects are particularly difficult to...

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Albatross Colony Yields New Virus

Researchers who set out in 2002 to uncover what was killing members of a shy albatross colony in Australia ended up discovering a new phlebovirus nearly a decade later.

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Clinician’s Guide for Genomics

The number of physicians ordering genome or exome testing for their patients is expected to increase from several thousand this year to 10 000 next year, with continued growth thereafter, according to...

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