Published on 11/17/2016
Human Genomics across the Lifespan
Birth Defects and Child Health
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Clinical utility gene card for: B4GALT7-defective congenital disorder of glycosylation.
Jaeken Jaak et al. European journal of human genetics : EJHG 2016 Nov -
Guidelines for the diagnosis, treatment and clinical monitoring of patients with juvenile and adult Pompe disease.
Llerena Junior Juan Clinton et al. Arquivos de neuro-psiquiatria 2016 Feb 74(2) 166-76 -
Is There a Right Time to Know? The Right Not to Know and Genetic Testing in Children.
Borry Pascal et al. The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics 2014 42(1) 19-27
Cancer
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KRAS mutations in the circulating free DNA (cfDNA) of non-small cell lung cancer (NSCLC) patients.
Garzón Mónica et al. Translational lung cancer research 2016 Oct 5(5) 511-516 -
Why Is Cancer Genetic Counseling Underutilized by Women Identified as at Risk for Hereditary Breast Cancer? Patient Perceptions of Barriers Following a Referral Letter.
Kne Alyssa et al. Journal of genetic counseling 2016 Nov -
Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands.
Dommering Charlotte J et al. Familial cancer 2016 Nov -
Colonoscopy in Lynch syndrome: the need for a new quality score.
Boonstra Jurjen J et al. Familial cancer 2016 Nov -
Cancer screening behaviors and risk perceptions among family members of colorectal cancer patients with unexplained mismatch repair deficiency.
Katz Lior H et al. Familial cancer 2016 Nov -
Health Economic Impact and Prospective Clinical Utility of Oncotype DX® Genomic Prostate Score.
Albala David et al. Reviews in urology 2016 18(3) 123-132 -
The Psychosocial Impact of Undergoing Prophylactic Total Gastrectomy (PTG) to Manage the Risk of Hereditary Diffuse Gastric Cancer (HDGC).
Hallowell Nina et al. Journal of genetic counseling 2016 Nov -
Effect on perceived control and psychological distress of genetic knowledge in women with breast cancer receiving a BRCA1/2 test result.
Brédart Anne et al. Breast (Edinburgh, Scotland) 2016 Nov 31121-127 -
Current perspectives on recommendations for BRCA genetic testing in ovarian cancer patients.
Vergote Ignace et al. European journal of cancer (Oxford, England : 1990) 2016 Nov 69127-134 -
Beyond DNA: An Integrated and Functional Approach for Classifying Germline Variants in Breast Cancer Genes.
Pesaran T et al. International journal of breast cancer 2016 20162469523 -
Ohio Statewide Colon Cancer Initiative
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Time is running out to get a free cancer screening
R Murray, Dayton Daily News, November 14, 2016 -
Molecular screening of intellectually disabled patients and those with premature ovarian failure for CGG repeat expansion at FMR1 locus: Implication of combined triplet repeat primed polymerase chain reaction and methylation-specific polymerase chain reaction analysis.
Muthuswamy Srinivasan et al. Neurology India 64(6) 1175-1179 -
Genomic Disparities in Breast Cancer Among Latinas.
Lynce Filipa et al. Cancer control : journal of the Moffitt Cancer Center 2016 Oct 23(4) 359-372
Chronic Disease
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Evaluating Adults With Idiopathic Pancreatitis for Genetic Predisposition: Higher Prevalence of Abnormal Results With Use of Complete Gene Sequencing.
Ballard Darren D et al. Pancreas 2015 Jan 44(1) 116-21 -
Hopes and Expectations Regarding Genetic Testing for Schizophrenia Among Young Adults at Clinical High-Risk for Psychosis.
Friesen Phoebe et al. Journal of psychiatric practice 2016 Nov 22(6) 442-449
Ethics/Policy/Law
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The fiduciary relationship model for managing clinical genomic "incidental" findings.
Lázaro-Muñoz Gabriel et al. The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics 2014 42(4) 576-89
Practice
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The flip side of personal genomics: When a mutation doesn't spell disease
EC Hayden, Nature News, November 15, 2016 -
Value judgments for priority setting criteria in genetic testing: a discrete choice experiment.
Severin Franziska et al. Health policy (Amsterdam, Netherlands) 2015 Feb 119(2) 164-73 -
Using needs-based frameworks for evaluating new technologies: an application to genetic tests.
Rogowski Wolf H et al. Health policy (Amsterdam, Netherlands) 2015 Feb 119(2) 147-55 -
Personalized medicine: CCO's vision, accomplishments and future plans.
Guo Jennifer et al. Healthcare quarterly (Toronto, Ont.) 2015 17 Spec No41-3 -
Nutrigenomics 2.0: The Need for Ongoing and Independent Evaluation and Synthesis of Commercial Nutrigenomics Tests' Scientific Knowledge Base for Responsible Innovation.
Pavlidis Cristiana et al. Omics : a journal of integrative biology 2016 Feb 20(2) 65-8 -
Geneticists should offer data to participants.
Nelson Sarah et al. Nature 2016 Nov 539(7627) 7 -
Genetic Counseling Assistants: an Integral Piece of the Evolving Genetic Counseling Service Delivery Model.
Pirzadeh-Miller Sara et al. Journal of genetic counseling 2016 Nov -
Economic evaluation in Genomic Medicine.
Hastings Rob et al. European journal of human genetics : EJHG 2016 Dec 24(12) 1831 -
Private and Efficient Query Processing on Outsourced Genomic Databases.
Ghasemi Reza et al. IEEE journal of biomedical and health informatics 2016 Nov -
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
Kalia Sarah S, et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 0 0. (2) 249-255 -
Development, Implementation, and Assessment of a Genetics Curriculum Across Institutions.
Dotters-Katz Sarah et al. AJP reports 2016 Oct 6(4) e372-e377 -
Reassessment of Genomic Sequence Variation to Harmonize Interpretation for Personalized Medicine.
Garber Kathryn B et al. American journal of human genetics 2016 Nov 99(5) 1140-1149 -
Aggregate penetrance of genomic variants for actionable disorders in European and African Americans.
Natarajan Pradeep et al. Science translational medicine 2016 Nov 8(364) 364ra151
Heart, Lung, Blood and Sleep Diseases
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Statins for Prevention of Cardiovascular Disease in Adults: Evidence Report and Systematic Review for the US Preventive Services Task Force.
Chou Roger et al. JAMA 2016 Nov 316(19) 2008-2024 -
Cholesterol, Cardiovascular Risk, Statins, PCSK9 Inhibitors, and the Future of LDL-C Lowering.
Rodriguez Fatima et al. JAMA 2016 Nov 316(19) 1967-1968 -
The use of targeted exome sequencing in genetic diagnosis of young patients with severe hypercholesterolemia.
Jiang Long et al. Scientific reports 2016 Nov 636823 -
Grey zones in cardiomyopathies: defining boundaries between genetic and iatrogenic disease.
Quarta Giovanni et al. Nature reviews. Cardiology 2016 Nov -
Screening first-degree relatives of patients with idiopathic dilated cardiomyopathy.
Sefa Okten M et al. Herz 2016 Nov -
Genetic Heart Disease Risk Eased by Healthy Habits, Study Finds
G Kolata, New York Times, November 11, 2016 -
Genetic Risk, Adherence to a Healthy Lifestyle, and Coronary Disease.
Khera Amit V, et al. The New England journal of medicine 2016 0 0. (24) 2349-2358 -
The prevalence and prognostic importance of possible familial hypercholesterolemia in patients with myocardial infarction.
Rerup Sofie Aagaard et al. American heart journal 2016 Nov 18135-42 -
Statin Use for the Primary Prevention of Cardiovascular Disease in Adults: US Preventive Services Task Force Recommendation Statement.
et al. JAMA 2016 Nov 316(19) 1997-2007 -
HEART UK statement on the management of homozygous familial hypercholesterolaemia in the United Kingdom.
France Michael et al. Atherosclerosis 2016 Nov -
DNA Is Not Destiny When It Comes To Heart Risk
R Harris, NPR News, November 13, 2016
Newborn Screening
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Newborn screening: need of the hour in India.
Verma Ishwar C et al. Indian journal of pediatrics 2015 Jan 82(1) 61-70 -
Repeated Screening Can Be Restricted to At-Genetic-Risk Birth Cohorts.
Björck Sara et al. Journal of pediatric gastroenterology and nutrition 2016 Feb 62(2) 271-5 -
Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1,696 neonates.
Bodian Dale L et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Mar 18(3) 221-30 -
Newborn testing and screening by whole-genome sequencing.
Kingsmore Stephen F et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Mar 18(3) 214-6 -
The first Mongolian cases of phenylketonuria in selective screening of inborn errors of metabolism.
Purevsuren Jamiyan et al. Molecular genetics and metabolism reports 2016 Dec 971-74 -
Newborn screening for Krabbe disease in New York State: the first eight years' experience.
Orsini Joseph J et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Mar 18(3) 239-48 -
Damaged goods?: an empirical cohort study of blood specimens collected 12 to 23 hours after birth in newborn screening in California.
Tang Hao et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Mar 18(3) 259-64 -
International differences in the evaluation of conditions for newborn bloodspot screening: a review of scientific literature and policy documents.
Jansen Marleen E et al. European journal of human genetics : EJHG 2016 Nov -
Differences in Outcomes between Early and Late Diagnosis of Cystic Fibrosis in the Newborn Screening Era.
Coffey Michael J et al. The Journal of pediatrics 2016 Nov
Pharmacogenomics
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Contribution of Pharmacogenetic Testing to Modeled Medication Change Recommendations in a Long-Term Care Population with Polypharmacy.
Sugarman Elaine A et al. Drugs & aging 2016 Nov
Reproductive Health
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Cystic fibrosis: to screen or not to screen? Involving a Citizens' jury in decisions on screening carrier.
Mosconi Paola et al. Health expectations : an international journal of public participation in health care and health policy 2015 Dec 18(6) 1956-67 -
Genetic Counseling for Couples Seeking Noninvasive Prenatal Testing in Japan: Experiences of Pregnant Women and their Partners.
Watanabe Motoko et al. Journal of genetic counseling 2016 Nov -
Expanded Carrier Screening and Its Implications on Genetic Testing Protocols.
Gates Alyssa et al. Genetic testing and molecular biomarkers 2016 Nov 20(11) 643-644 -
Experiences of faith group members using new reproductive and genetic technologies: A qualitative interview study.
Scully Jackie Leach et al. Human fertility (Cambridge, England) 2016 Nov 1-8
News/ Reviews/Comments
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CRISPR gene-editing tested in a person for the first time
D Cyranoski, Nature News, November 15, 2016