| Reviewer Acknowledgment 2013 |
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| In This Issue |
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| News Briefs |
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| Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium |
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| Correction: Corrigendum: Frequency of Prader–Willi syndrome in births conceived via assisted reproductive technology |
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| News Briefs |
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| Standard enrichment methods for targeted next-generation sequencing in high-repeat genomic regions |
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| ACMG statement on access to reproductive options after prenatal diagnosis |
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| Finding common ground |
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| Correction: Corrigendum: The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders |
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| In this Issue |
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| Integration of genomics into the electronic health record: mapping terra incognita |
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| News Briefs |
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| Glossary |
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| Correction: Corrigendum: Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome |
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| “I prefer a child with …”: designer babies, another controversial patent in the arena of direct-to-consumer genomics |
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| Genetic medicine and incidental findings: it is more complicated than deciding whether to disclose or not |
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| Practical challenges in integrating genomic data into the electronic health record |
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| A survey of informatics approaches to whole-exome and whole-genome clinical reporting in the electronic health record |
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| The undiscovered country: the future of integrating genomic information into the EHR |
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| ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013 |
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| Personalized medicine and genetic malpractice |
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| Opportunities for genomic clinical decision support interventions |
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| Minimizing liability risks under the ACMG recommendations for reporting incidental findings in clinical exome and genome sequencing |
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| Ethical, legal, and social implications of incorporating genomic information into electronic health records |
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| Stakeholder engagement: a key component of integrating genomic information into electronic health records |
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| In This Issue |
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| Response to Rosenberg et al. |
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| Paternalism and the ACMG recommendations on genomic incidental findings: patients seen but not heard |
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| Response to Townsend et al. |
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| Electronic health record design and implementation for pharmacogenomics: a local perspective |
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| Some experiences and opportunities for big data in translational research |
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| ACMG recommendations on incidental findings are flawed scientifically and ethically |
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| Runs of homozygosity and parental relatedness |
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| Editorial |
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| Points to consider for informed consent for genome/exome sequencing |
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| Storing and interpreting genomic information in widely deployed electronic health record systems |
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| The EGAPP initiative: lessons learned |
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| Incorporating genomic data into multivariate risk models for lung cancer |
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| In This Issue |
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| News Briefs |
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| Erratum: Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions |
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| Genetic incidental findings: autonomy regained? |
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| Recommendations for returning genomic incidental findings? We need to talk! |
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| ACMG clinical laboratory standards for next-generation sequencing |
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| Clinical genomics in the world of the electronic health record |
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| In This Issue |
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| News Briefs |
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| Erratum: Novel candidate genes and regions for childhood apraxia of speech identified by array comparative genomic hybridization |
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| Incidental findings in clinical genomics: a clarification |
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| Researchers’ views on return of incidental genomic research results: qualitative and quantitative findings |
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| ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing |
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| ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medica |
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| The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future |
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| Return of results to the families of children in genomic sequencing: tallying risks and benefits |
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| In This Issue |
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| News Briefs |
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| When is a medical finding “incidental”? |
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| Return of incidental findings in genomic medicine: measuring what patients value—development of an instrument to measure preferences for information from next-generation testing (IMPRINT) |
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| Let us ask better questions |
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| Analysis of left ventricular mass in untreated men and in men treated with agalsidase-β: data from the Fabry Registry |
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| The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia |
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| Changes in plasma and urine globotriaosylceramide levels do not predict Fabry disease progression over 1 year of agalsidase alfa |
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| Self-reported reproductive health in women with tuberous sclerosis complex |
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| Preserving personal autonomy in a genomic testing era |
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| Response to Lindor et al. |
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| Avicenna’s view on medical genetics |
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| Correction: Corrigendum: The effects of learning about one’s own genetic susceptibility to alcoholism: a randomized experiment |
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| In This Issue |
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| News Briefs |
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| Renal growth in isolated methylmalonic acidemia |
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| Underutilization of Lynch syndrome screening in a multisite study of patients with colorectal cancer |
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| Experiences and attitudes of genome investigators regarding return of individual genetic test results |
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| Self-guided management of exome and whole-genome sequencing results: changing the results return model |
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| ACMG position statement on prenatal/preconception expanded carrier screening |
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| American College of Medical Genetics and Genomics technical standards and guidelines: microarray analysis for chromosome abnormalities in neoplastic disorders |
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| A mosaic PTEN mutation causing Cowden syndrome identified by deep sequencing |
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| Clinical predictors of genetic testing outcomes in hypertrophic cardiomyopathy |
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| Growth behavior of plexiform neurofibromas after surgery |
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| Implementation of routine screening for Lynch syndrome in university and safety-net health system settings: successes and challenges |
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| Insurance coverage of medical foods for treatment of inherited metabolic disorders |
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| Discussing the psychiatric manifestations of 22q11.2 deletion syndrome: an exploration of clinical practice among medical geneticists |
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| NCI think tank concerning the identifiability of biospecimens and “omic” data |
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| Alu-mediated nonallelic homologous and nonhomologous recombination in the BMPR2 gene in heritable pulmonary arterial hypertension |
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| The association of low socioeconomic status and the risk of having a child with Down syndrome: a report from the National Down Syndrome Project |
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| Description and pilot results from a novel method for evaluating return of incidental findings from next-generation sequencing technologies |
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| ACMG statement on noninvasive prenatal screening for fetal aneuploidy |
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| Density matters: comparison of array platforms for detection of copy-number variation and copy-neutral abnormalities |
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| Response to Benn |
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| News Briefs |
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| Prenatal counseling and the detection of copy-number variants |
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| Response to Stoll and Resta |
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| Erratum: Technical report: ethical and policy issues in genetic testing and screening of children |
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| Considering the cost of expanded carrier screening panels |
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| In This Issue |
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| Hereditary ataxias: overview |
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| Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions |
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| Use of genomic panels to determine risk of developing type 2 diabetes in the general population: a targeted evidence-based review |
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| Recommendations from the EGAPP Working Group: does genomic profiling to assess type 2 diabetes risk improve health outcomes? |
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| Positive cell-free fetal DNA testing for trisomy 13 reveals confined placental mosaicism |
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| High apolipoprotein E4 allele frequency in FXTAS patients |
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| Newborn screening 50 years later: access issues faced by adults with PKU |
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| We screen newborns, don’t we?: realizing the promise of public health genomics |
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| Cognitive characteristics of PTEN hamartoma tumor syndromes |
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| A prospective study of brachytelephalangic chondrodysplasia punctata: identification of arylsulfatase E mutations, functional analysis of novel missense alleles, and determination of potential phenoco |
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| In This Issue |
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| News Briefs |
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| Correction: Corrigendum: Effective communication of molecular genetic test results to primary care providers |
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| The responses of research participants and their next of kin to receiving feedback of genetic test results following participation in the Australian Ovarian Cancer Study |
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| Utilization of epidermal growth factor receptor (EGFR) testing in the United States: a case study of T3 translational research |
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| “It was the missing piece”: adolescent experiences of predictive genetic testing for adult-onset conditions |
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| Modeling uncertain outcomes of genetic testing: factor V Leiden mutation and pregnant women |
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| What does it mean to be genomically literate?: National Human Genome Research Institute Meeting Report |
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| Managing incidental genomic findings: legal obligations of clinicians |
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| Recommendations from the EGAPP Working Group: can testing of tumor tissue for mutations in EGFR pathway downstream effector genes in patients with metastatic colorectal cancer improve health outcomes |
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| Assessing genotype–phenotype correlation in Costello syndrome using a severity score |
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| Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
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| Technical report: ethical and policy issues in genetic testing and screening of children |
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| Incorporating genomics into breast and prostate cancer screening: assessing the implications |
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| How can polygenic inheritance be used in population screening for common diseases? |
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| Morbidity and mortality in type B Niemann–Pick disease |
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| Return of research results from genomic biobanks: a call for data |
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| News Briefs |
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| In This Issue |
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| Return of results in genomic biobank research: ethics matters |
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| Secondary variants and human subjects research |
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| Erratum: Medical foods: inborn errors of metabolism and the reimbursement dilemma |
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| An approach to family-centered coordinated co-management for individuals with conditions identified through newborn screening |
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| Attitudes of Canadian researchers toward the return to participants of incidental and targeted genomic findings obtained in a pediatric research setting |
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| Beyond the genomics blueprint: the 4th Human Variome Project Meeting, UNESCO, Paris, 2012 |
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| Creation of a national resource with linked genealogy and phenotypic data: the Veterans Genealogy Project |
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| American College of Medical Genetics and Genomics: standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic testing |
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| Risk categorization for oversight of laboratory-developed tests for inherited conditions |
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| Cascade carrier testing after a child is diagnosed with cystic fibrosis through newborn screening: investigating why most relatives do not have testing |
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| The arrival of genomic medicine to the clinic is only the beginning of the journey |
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| Implementing genomic medicine in the clinic: the future is here |
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| A clinical appraisal of different Z-score equations for aortic root assessment in the diagnostic evaluation of Marfan syndrome |
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| Primary-care physicians’ access to genetic specialists: an impediment to the routine use of genomic medicine? |
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| Argininosuccinic aciduria: from a monogenic to a complex disorder |
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| Autism genetic testing: a qualitative study of awareness, attitudes, and experiences among parents of children with autism spectrum disorders |
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| ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing |
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| Comprehensive next-generation sequence analyses of the entire mitochondrial genome reveal new insights into the molecular diagnosis of mitochondrial DNA disorders |
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| Louis J. “Skip” Elsas II, MD, FACMG |
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| Erratum: A comprehensive survey of cancer risks in extended families |
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| News Briefs |
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| Correction: Corrigendum: Stakeholder assessment of the evidence for cancer genomic tests: insights from three case studies |
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| In This Issue |
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| Estimates of penetrance for recurrent pathogenic copy-number variations |
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| Informatics-based, highly accurate, noninvasive prenatal paternity testing |
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| Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today’s genomic array era? |
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| Effective communication of molecular genetic test results to primary care providers |
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| Developing a comprehensive, effective patient-friendly website to enhance decision making in predictive testing for Huntington disease |
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| Risk prediction for complex diseases: application to Parkinson disease |
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| Cell-free fetal DNA testing: who is driving implementation? |
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| Achieving the “triple aim” for inborn errors of metabolism: a review of challenges to outcomes research and presentation of a new practice-based evidence framework |
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| Mapping the incidentalome: estimating incidental findings generated through clinical pharmacogenomics testing |
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| “Trust is not something you can reclaim easily”: patenting in the field of direct-to-consumer genetic testing |
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| Comparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databases |
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| Perspectives of surrogate decision makers for critically ill patients regarding gene variation research |
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| Ethical dilemmas associated with genetic testing: which are most commonly seen and how are they managed? |
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| A risk–benefit analysis of factor V Leiden testing to improve pregnancy outcomes: a case study of the capabilities of decision modeling in genomics |
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| Can a decision aid enable informed decisions in neonatal nursery recruitment for a fragile X newborn screening study? |
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| A clinical evaluation tool for SNP arrays, especially for autosomal recessive conditions in offspring of consanguineous parents |
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| Bortezomib in the rapid reduction of high sustained antibody titers in disorders treated with therapeutic protein: lessons learned from Pompe disease |
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| Fragile X–related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: a technical validation study |
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| Getting our priorities straight: a novel framework for stakeholder-informed prioritization of cancer genomics research |
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| Lifting the lid on unborn lethal Mendelian phenotypes through exome sequencing |
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| Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and recommendations from the Secretary of Health and Human Services’ Advisory Committee o |
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| Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutations |
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| Duplications, deletions, and single-nucleotide variations: the complexity of genetic arithmetic |
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| Leveraging the electronic health record to implement genomic medicine |
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| Sickle cell disease incidence among newborns in New York State by maternal race/ethnicity and nativity |
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| Health behaviors and cancer screening among Californians with a family history of cancer |
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| 1q21.1 Microduplication expression in adults |
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| An informatics approach to analyzing the incidentalome |
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| Behavioral genetics and population health interventions for alcohol problems: at odds or oddly in agreement? |
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| Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients |
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| Improving mutation notification when new genetic information is identified in research: a trial of two strategies in familial breast cancer |
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| An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals |
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| Informatics and clinical genome sequencing: opening the black box |
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| Cost-effectiveness of the 21-gene recurrence score assay in the context of multifactorial decision making to guide chemotherapy for early-stage breast cancer |
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| Improving the efficiency and relevance of evidence-based recommendations in the era of whole-genome sequencing: an EGAPP methods update |
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| Women’s experiences receiving abnormal prenatal chromosomal microarray testing results |
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| Return of research results from genomic biobanks: cost matters |
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| The effects of learning about one’s own genetic susceptibility to alcoholism: a randomized experiment |
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| A systematic analysis of small supernumerary marker chromosomes using array CGH exposes unexpected complexity |
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| Age-specific Parkinson disease risk in GBA mutation carriers: information for genetic counseling |
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| Clinical and radiological features in young individuals with nevoid basal cell carcinoma syndrome |
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| Avoiding genetic genocide: understanding good intentions and eugenics in the complex dialogue between the medical and disability communities |
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| Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin |
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| Homozygosity for aquaporin 7 G264V in three unrelated children with hyperglyceroluria and a mild platelet secretion defect |
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| Identification of constitutional MLH1 epimutations and promoter variants in colorectal cancer patients from the Colon Cancer Family Registry |
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| Survival among people with Down syndrome: a nationwide population-based study in Denmark |
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| Incidental copy-number variants identified by routine genome testing in a clinical population |
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| Regions of homozygosity identified by SNP microarray analysis aid in the diagnosis of autosomal recessive disease and incidentally detect parental blood relationships |
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| Stakeholder perspectives on decision-analytic modeling frameworks to assess genetic services policy |
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