Published on 11/09/2017
Human Genomics across the Lifespan
Birth Defects and Child Health
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Gene therapy: Transgenic stem cells replace skin
M Aragona et al, Nature News, November 7, 2017 -
Six Genes May Hold Clues to Preterm Birth
Genome Magazine, Oct 2017 -
The Dilemma of Two Innovative Therapies for Spinal Muscular Atrophy.
van der Ploeg Ans T et al. The New England journal of medicine 2017 377(18) 1786-1787 -
eRAM: encyclopedia of rare disease annotations for precision medicine.
Jia Jinmeng et al. Nucleic acids research 2017 Nov -
November is National Prematurity Awareness Month
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Predictive testing of minors for Huntington's disease: The UK and Netherlands experiences.
Quarrell Oliver W et al. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2017 Nov -
Gene therapy creates boys replacement skin from his stem cells
R Lewis, Genetic Literacy Project, Nov 8, 2017 -
Clinical Diagnostic Genetic Testing for Individuals With Developmental Disorders.
Muhle Rebecca A et al. Journal of the American Academy of Child and Adolescent Psychiatry 2017 Nov 56(11) 910-913 -
Special issue: Fragile X syndrome
Science Signaling, Nov 7, 2017 -
Gene Therapy Creates Replacement Skin to Save a Dying Boy
D Grady, NY Times, Nov 8, 2017 -
Utilization of Whole Exome Sequencing to Identify Causative Mutations in Familial Congenital Heart Disease.
LaHaye Stephanie et al. Circulation. Cardiovascular genetics 2016 Aug 9(4) 320-9
Cancer
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Validation of a next-generation-sequencing cancer panel for use in the clinical laboratory.
Simen Birgitte B et al. Archives of pathology & laboratory medicine 2015 Apr 139(4) 508-17 -
Predictive genetic testing in children: constitutional mismatch repair deficiency cancer predisposing syndrome.
Bruwer Zandrè et al. Journal of genetic counseling 2014 Apr 23(2) 147-55 -
Lynch syndrome-associated colorectal carcinoma: frequent involvement of the left colon and rectum and late-onset presentation supports a universal screening approach.
Hartman Douglas J et al. Human pathology 2013 Nov 44(11) 2518-28 -
Value-based healthcare in Lynch syndrome.
Hennink Simone D et al. Familial cancer 2013 Jun 12(2) 347-54 -
Sources of uncertainty about daughters' breast cancer risk that emerge during genetic counseling consultations.
Bylund Carma L et al. Journal of genetic counseling 2012 Apr 21(2) 292-304 -
Genetic prognostication in uveal melanoma.
Dogrusöz Mehmet et al. Acta ophthalmologica 2017 Nov -
Development of a high risk pancreatic screening clinic using 3.0 T MRI.
Barnes Chad A et al. Familial cancer 2017 Nov -
Genome-wide DNA methylation analysis reveals a prognostic classifier for non-metastatic colorectal cancer (ProMCol classifier).
Gündert Melanie et al. Gut 2017 Nov -
Prostate Cancer Germline Variations and Implications for Screening and Treatment.
Dias Alexander et al. Cold Spring Harbor perspectives in medicine 2017 Nov -
Emerging molecular predictive and prognostic factors in acute myeloid leukemia.
McCurdy Shannon R et al. Leukemia & lymphoma 2017 Nov 1-19 -
"Personalized Cancer Therapy": A Publicly Available Precision Oncology Resource.
Kurnit Katherine C et al. Cancer research 2017 Nov 77(21) e123-e126 -
Genetic variants as ovarian cancer first-line treatment hallmarks: A systematic review and meta-analysis.
Assis Joana et al. Cancer treatment reviews 2017 Oct 6135-52 -
Towards the use of precision medicine in predicting cutaneous squamous cell carcinoma risk among solid organ transplant recipients.
Nguyen M O et al. The British journal of dermatology 2017 177(4) 901-902 -
Clinical utility of multigene profiling assays in early-stage breast cancer.
Chang M C et al. Current oncology (Toronto, Ont.) 2017 Oct 24(5) e403-e422 -
Molecular Testing of Lung Cancers.
Shim Hyo Sup et al. Journal of pathology and translational medicine 2017 May 51(3) 242-254 -
Circulating microRNAs Expressions as Genetic Biomarkers in Pancreatic Cancer Patients Continuous Non-Invasive Monitoring.
Sandesc Mihai et al. Clinical laboratory 2017 Oct 63(10) 1561-1566 -
Proposal for the Creation of a National Strategy for Precision Medicine in Cancer: a position statement of SEOM, SEAP and SEFH.
Garrido Pilar et al. Farmacia hospitalaria : organo oficial de expresion cientifica de la Sociedad Espanola de Farmacia Hospitalaria 2017 Nov 41(6) 688-691 -
Whom to Treat: Postdiagnostic Risk Assessment with Gleason Score, Risk Models, and Genomic Classifier.
Herlemann Annika et al. The Urologic clinics of North America 2017 Nov 44(4) 547-555 -
Low yield of gastroscopy in patients with Lynch syndrome.
Galiatsatos Polymnia et al. The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology 2017 Oct -
Childhood cancer predisposition syndromes-A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology.
Ripperger Tim et al. American journal of medical genetics. Part A 2017 Apr 173(4) 1017-1037 -
Use of 21-gene recurrence score assay to individualize adjuvant chemotherapy recommendations in ER+/HER2- node positive breast cancer-A National Cancer Database study.
Peethambaram Prema P et al. NPJ breast cancer 2017 341 -
Initiative for Molecular Profiling and Advanced Cancer Therapy (IMPACT): An MD Anderson Precision Medicine Study.
Tsimberidou Apostolia-Maria et al. JCO precision oncology 2017 2017 -
The Clinical Utility of MicroRNA as a Prognostic Biomarker of Pancreatobiliary Cancers.
Lee Kyu Taek et al. Gut and liver 2016 Sep 10(5) 663-4 -
Specifying the ovarian cancer risk threshold of 'premenopausal risk-reducing salpingo-oophorectomy' for ovarian cancer prevention: a cost-effectiveness analysis.
Manchanda Ranjit et al. Journal of medical genetics 2016 Sep 53(9) 591-9 -
"A rising tide lifts all boats": establishing a multidisciplinary genomic tumor board for breast cancer patients with advanced disease.
McGowan Michelle L et al. BMC medical genomics 2016 Nov 9(1) 71 -
Treating DNA Repair-deficient Breast Cancers
S Ravoori, AACR Blog Post, Nov 3, 2017 -
A genetic roadmap of pancreatic cancer: still evolving.
Notta Faiyaz et al. Gut 2017 Oct -
Lung cancer epigenetics: From knowledge to applications.
Duruisseaux Michaël et al. Seminars in cancer biology 2017 Sep -
Development and clinical application of radiomics in lung cancer.
Chen Bojiang et al. Radiation oncology (London, England) 2017 Sep 12(1) 154 -
Combination of ULK1 and LC3B improve prognosis assessment of hepatocellular carcinoma.
Wu Dong-Hao et al. Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie 2017 Oct 97195-202 -
Phenotypic and genotypic heterogeneity of Lynch syndrome: a complex diagnostic challenge.
Lynch Henry T et al. Familial cancer 2017 Oct -
Multigene testing of moderate-risk genes: be mindful of the missense.
Young E L et al. Journal of medical genetics 2016 Jun 53(6) 366-76 -
Genetic anticipation in Swedish Lynch syndrome families.
von Salomé Jenny et al. PLoS genetics 2017 Oct 13(10) e1007012 -
Association of Alterations in Main Driver Genes With Outcomes of Patients With Resected Pancreatic Ductal Adenocarcinoma.
Qian Zhi Rong et al. JAMA oncology 2017 Nov -
Impact of phosphoinositide-3-kinase and vitamin D3 nuclear receptor single-nucleotide polymorphisms on the outcome of malignant melanoma patients.
Morgese Francesca et al. Oncotarget 2017 Sep 8(44) 75914-75923 -
Gene network inherent in genomic big data improves the accuracy of prognostic prediction for cancer patients.
Kim Yun Hak et al. Oncotarget 2017 Sep 8(44) 77515-77526 -
Genetic risk score to predict biochemical recurrence after radical prostatectomy in prostate cancer: prospective cohort study.
Oh Jong Jin et al. Oncotarget 2017 Sep 8(44) 75979-75988 -
Actionable gene-based classification toward precision medicine in gastric cancer.
Ichikawa Hiroshi et al. Genome medicine 2017 Oct 9(1) 93 -
Position paper: Rationale for the treatment of Wilms tumour in the UMBRELLA SIOP-RTSG 2016 protocol.
van den Heuvel-Eibrink Marry M et al. Nature reviews. Urology 2017 Oct -
A plea for appraisal and appreciation of immunohistochemistry in the assessment of prognostic and predictive markers in invasive breast cancer.
Van Bockstal Mieke et al. Breast (Edinburgh, Scotland) 2017 Oct 3752-55 -
Cancer Risk-Reducing Opportunities in Gynecologic Surgery.
Piszczek Carolyn et al. Journal of minimally invasive gynecology 2017 Oct -
Universal Screening for Lynch Syndrome in Endometrial Cancers: Frequency of Germline Mutations and Identification of Patients with Lynch-Like Syndrome.
Dillon Jessica L et al. Human pathology 2017 Oct -
A prospective, multicenter phase II trial of low-dose erlotinib as maintenance treatment after platinum doublet chemotherapy for advanced non-small cell lung cancer harboring EGFR mutation.
Hirano Satoshi et al. Chinese clinical oncology 2016 Dec 5(6) 77 -
A pilot study of BRCA mutation carriers' knowledge about the clinical impact of prophylactic-oophorectomy and views on fertility consultation: a single-center pilot study.
Kim J et al. Journal of genetic counseling 2015 Feb 24(1) 149-57 -
Prevalence and detection of psychosocial problems in cancer genetic counseling.
Eijzenga W et al. Familial cancer 2015 Dec 14(4) 629-36
Chronic Disease
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Hunt to Stop a Killer
Genome Magazine, Oct 2017 -
Clinical practice guidelines or personalized medicine in chronic obstructive pulmonary disease?
Soler-Cataluña Juan José et al. Archivos de bronconeumologia 2017 Nov -
New treatment paradigms for ADPKD: moving towards precision medicine.
Lanktree Matthew B et al. Nature reviews. Nephrology 2017 Oct -
Genetics of Huntington disease.
Nance Martha A et al. Handbook of clinical neurology 2017 1443-14 -
Tolvaptan in Later-Stage Autosomal Dominant Polycystic Kidney Disease.
Torres Vicente E et al. The New England journal of medicine 2017 Nov -
Copy Number Variation in Syndromic Forms of Psychiatric Illness: The Emerging Value of Clinical Genetic Testing in Psychiatry.
Bouwkamp Christian G et al. The American journal of psychiatry 2017 Nov 174(11) 1036-1050 -
Clinical Genetic Testing for APOL1: Are we There Yet?
Young Bessie A et al. Seminars in nephrology 2017 Nov 37(6) 552-557
Ethics/Policy/Law
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Does a duty of disclosure foster special treatment of genetic research participants?
Hayeems Robin Z et al. Journal of genetic counseling 2013 Oct 22(5) 654-61 -
Genetic gatekeepers: regulating direct-to-consumer genomic services in an era of participatory medicine.
Palmer Jessica Elizabeth et al. Food and drug law journal 2012 67(4) 475-524, iii -
Ethical issues with newborn screening in the genomics era.
Tarini Beth A et al. Annual review of genomics and human genetics 2012 13381-93 -
FDA Eases Regulatory Path, Consumer Access to Genetic Health Risk Tests,
Genome Web, November 6, 2017
Practice
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What Happens When You Put 500,000 People's DNA Online
S Zhang, The Atlantic, Nov 6, 2017 -
DNA Will Point the Way to Healthier Patients: The fast-growing field of personalized medicine can help doctors pinpoint optimal ways to treat illnesses and keep patients healthier.
E Gardner, US Health News, Nov 9, 2017 -
Proband-only medical exome sequencing as a cost-effective first-tier genetic diagnostic test for patients without prior molecular tests and clinical diagnosis in a developing country: the China experience.
Hu Xuyun et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Nov -
Limitations and Pitfalls of Using Family Letters to Communicate Genetic Risk: a Qualitative Study with Patients and Healthcare Professionals.
Dheensa Sandi et al. Journal of genetic counseling 2017 Nov -
Review of Clinical Next-Generation Sequencing.
Yohe Sophia et al. Archives of pathology & laboratory medicine 2017 Nov 141(11) 1544-1557 -
A clinical pharmacy pilot within a Precision Medicine Program for cancer patients and review of related pharmacist clinical practice.
Arnall Justin R et al. Journal of oncology pharmacy practice : official publication of the International Society of Oncology Pharmacy Practitioners 2017 Jan 1078155217738324 -
Genetic counseling for personal genomic testing: optimizing client uptake of post-test telephonic counseling services.
Levin Elissa et al. Journal of genetic counseling 2012 Jun 21(3) 462-8 -
The RARE List
Approximately 7,000 different rare diseases and disorders affecting more than 300 million people worldwide, Global Genes, Nov 2017 -
FDA clears the way for more consumer genetic health tests to hit the market
Stat News, Nov 6, 2017
Heart, Lung, Blood and Sleep Diseases
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Making the decision to participate in predictive genetic testing for arrhythmogenic right ventricular cardiomyopathy.
Manuel April et al. Journal of genetic counseling 2014 Dec 23(6) 1045-55 -
Beta-blockers for preventing aortic dissection in Marfan syndrome.
Koo Hyun-Kyoung et al. The Cochrane database of systematic reviews 2017 Nov 11CD011103 -
People at risk of familial hypercholesterolaemia should have DNA test, says NICE.
et al. BMJ (Clinical research ed.) 2017 Nov 359j5112 -
Massively Parallel Sequencing of Genes Implicated in Heritable Cardiac Disorders: A Strategy for a Small Diagnostic Laboratory.
Leong Ivone U S et al. Medical sciences (Basel, Switzerland) 2017 Oct 5(4) -
A rapid scoring tool to assess mutation probability in patients with inherited cardiac disorders.
Zentner Dominica et al. European journal of medical genetics 2017 Nov -
Cascade screening for familial hypercholesterolemia: Practical consequences.
Louter Leonora et al. Atherosclerosis. Supplements 2017 Nov 3077-85 -
CaRe high - Cascade screening and registry for high cholesterol in Germany.
Schmidt Nina et al. Atherosclerosis. Supplements 2017 Nov 3072-76 -
A 3-year study of atorvastatin in children and adolescents with heterozygous familial hypercholesterolemia.
Langslet Gisle et al. Journal of clinical lipidology 10(5) 1153-1162.e3 -
Rapid identification of familial hypercholesterolemia from electronic health records: The SEARCH study.
Safarova Maya S et al. Journal of clinical lipidology 10(5) 1230-9 -
Impact of a 1-year lifestyle modification program on plasma lipoprotein and PCSK9 concentrations in patients with coronary artery disease.
Boyer Marjorie et al. Journal of clinical lipidology 10(6) 1353-1361 -
The future of nutrition: Nutrigenomics and nutrigenetics in obesity and cardiovascular diseases.
Peña-Romero Alicia Cristina et al. Critical reviews in food science and nutrition 2017 Jul 1-12 -
Evaluation of the Mayo Clinic Phenotype-Based Genotype Predictor Score in Patients with Clinically Diagnosed Hypertrophic Cardiomyopathy.
Murphy Sinead L et al. Journal of cardiovascular translational research 2016 Apr 9(2) 153-61
Newborn Screening
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Evaluation of newborn sickle cell screening programme in England: 2010-2016.
Streetly Allison et al. Archives of disease in childhood 2017 Nov -
Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant.
Borghesi Alessandro et al. Italian journal of pediatrics 2017 Nov 43(1) 100 -
Moonlighting newborn screening markers: the incidental discovery of a second-tier test for Pompe disease.
Tortorelli Silvia et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Nov -
Next generation sequencing as a follow-up test in an expanded newborn screening programme.
Andraz Smon et al. Clinical biochemistry 2017 Oct -
"Mild" hyperphenylalaninemia? A case series of seven treated patients following newborn screening.
Viall Sarah et al. Molecular genetics and metabolism 2017 Oct -
A Historical and Current Review of Newborn Screening for Neuromuscular Disorders From Around the World: Lessons for the United States.
Ross Lainie Friedman et al. Pediatric neurology 2017 Aug
Pharmacogenomics
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An assessment of the impact of pharmacogenomics on health disparities: a systematic literature review.
Martin Antony et al. Pharmacogenomics 2017 Nov -
Pharmacogenomics: Precision Medicine and Drug Response.
Weinshilboum Richard M, et al. Mayo Clinic proceedings 2017 11 0. (11) 1711-1722 -
Economic Evaluation of Implementing a Novel Pharmacogenomic Test (IDgenetix(®)) to Guide Treatment of Patients with Depression and/or Anxiety.
Najafzadeh Mehdi et al. PharmacoEconomics 2017 Nov -
Research Directions in Genetic Predispositions to Stevens-Johnson Syndrome / Toxic Epidermal Necrolysis.
Manolio Teri A et al. Clinical pharmacology and therapeutics 2017 Nov -
Impact of CYP2D6 and ADRB1 polymorphisms on heart rate of post-PCI patients treated with metoprolol.
Gao Xiaofeng et al. Pharmacogenomics 2017 Nov -
Clinical Pharmacogenetics of Cytochrome P450-Associated Drugs in Children.
Aka Ida et al. Journal of personalized medicine 2017 Nov 7(4) -
Multisite Investigation of Outcomes With Implementation of CYP2C19 Genotype-Guided Antiplatelet Therapy After Percutaneous Coronary Intervention.
Cavallari Larisa H et al. JACC. Cardiovascular interventions 2017 Oct -
Integrating Pharmacogenomics in Practice: One GIFT at a Time or a Package Deal?
G Feero and MJ Khoury, CDC Blog Post, Nov 6, 2017
Reproductive Health
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Modern Family Planning
S Collins, Genome Magazine, Oct 2017 -
Practice considerations in providing cancer risk assessment and genetic testing in women's health.
Mahon Suzanne M et al. Journal of obstetric, gynecologic, and neonatal nursing : JOGNN 42(3) 274-86 -
Expanded carrier screening in gamete donors of Venezuela.
Urbina Maria Teresa et al. JBRA assisted reproduction 2017 Nov -
Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.
Stals Karen L et al. Prenatal diagnosis 2017 Nov -
Decision-making about prenatal genetic testing among pregnant Korean-American women.
Jun Myunghee et al. Midwifery 2017 Oct 56128-134 -
Prenatal genetic testing: an investigation of determining factors affecting the decision-making process.
Pivetti Monica et al. Journal of genetic counseling 2013 Feb 22(1) 76-89 -
Systematic review of noninvasive prenatal diagnosis for abnormal chromosome genetic diseases using free fetal DNA in maternal plasma.
Yang H et al. Genetics and molecular research : GMR 2015 Sep 14(3) 10603-8
Funding
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NIH awards to test ways to store, access, share, and compute on biomedical data in the cloud
NIH, Nov 6, 2017 -
Nutrigenetics and Nutrigenomics Approaches for Nutrition Research
NIH Funding Opportunity, Nov 2017