Published on 06/12/2018
Human Genomics across the Lifespan
Birth Defects and Child Health
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Enrichment of Rare Copy Number Variation in Children with Developmental Language Disorder.
Kalnak N et al. Clinical genetics 2018 May -
The Genomic Consultation Service: A clinical service designed to improve patient selection for genome-wide sequencing in British Columbia.
Elliott Alison M et al. Molecular genetics & genomic medicine 2018 May -
Secondary findings from next-generation sequencing: what does actionable in childhood really mean?
Richer Julie et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jun -
Precision medicine in KCNJ11 permanent neonatal diabetes.
Greeley Siri Atma W et al. The lancet. Diabetes & endocrinology 2018 Jun -
Mortality in children with classic congenital adrenal hyperplasia and 21-hydroxylase deficiency (CAH) in Germany.
Dörr Helmuth G et al. BMC endocrine disorders 2018 Jun 18(1) 37 -
Genome-wide sequencing in acutely ill infants: genomic medicine's critical application?
Friedman Jan M, et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 6 0. -
Blood Test Might Predict Pregnancy Due Date and Preterm Birth
P Belluck, New York Times, June 7, 2018 -
Precision medicine approaches may be the future for CRLF2 rearranged Down Syndrome Acute Lymphoblastic Leukaemia patients.
Page Elyse C et al. Cancer letters 2018 Jun -
Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophies.
Karakaya Mert et al. Human mutation 2018 Jun -
The Prevalence of Phenylketonuria in Arab Countries, Turkey, and Iran: A Systematic Review.
El-Metwally Ashraf et al. BioMed research international 2018 20187697210 -
Comprehensive Genetic Screening Recommended for Nonsyndromic Cleft Lip/Palate: Even in the absence of any signs of a syndrome, patients with cleft lip/palate may still carry a mutation in a gene linked to a syndrome and should receive comprehensive genetic testing.
et al. American journal of medical genetics. Part A 2018 Jun 176(6) 1280-1282 -
Genetic testing and autism: Tutorial for communication sciences and disorders.
DeThorne Laura S et al. Journal of communication disorders 2018 May 7461-73 -
Understanding Tourette Syndrome
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Variability Among Next-Generation Sequencing Panels for Early-Life Epilepsies.
Yuskaitis Christopher J et al. JAMA pediatrics 2018 Jun -
Two Studies, One Message: High Yield of Genetic Testing in Infants and Young Children With Severe Epilepsies.
Perry M Scott et al. Epilepsy currents 18(1) 24-26 -
Postmortem Genetic Testing for Cardiac Ion Channelopathies in Stillbirths.
Munroe Patricia B et al. Circulation. Genomic and precision medicine 2018 Jan 11(1) e001817 -
Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease.
Savarese Marco et al. Neuromuscular disorders : NMD 2018 Apr
Cancer
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Prevalence of hereditary cancer susceptibility syndromes in children with cancer in a highly consanguineous population.
Jastaniah Wasil et al. Cancer epidemiology 2018 May 5588-95 -
Quantitative nuclear histomorphometry predicts oncotype DX risk categories for early stage ER+ breast cancer.
Whitney Jon et al. BMC cancer 2018 May 18(1) 610 -
The impact of variant classification on the clinical management of hereditary cancer syndromes.
Turner Scott A et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jun -
IASLC Statement Paper: Liquid Biopsy for Advanced Non-Small Cell Lung Cancer (NSCLC).
Rolfo Christian et al. Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer 2018 Jun -
Written pretest information and germline BRCA1/2 pathogenic variant testing in unselected breast cancer patients: predictors of testing uptake.
Nilsson Martin P et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jun -
Family specific genetic predisposition to breast cancer: results from Tunisian whole exome sequenced breast cancer cases.
Hamdi Yosr et al. Journal of translational medicine 2018 Jun 16(1) 158 -
Comprehensive molecular profiling of intra- and extrahepatic cholangiocarcinomas: potential targets for intervention.
Lowery Maeve A et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2018 May -
Genetic Risk for Subsequent Neoplasms Among Long-Term Survivors of Childhood Cancer.
Wang Zhaoming et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2018 May JCO2018778589 -
Results of surveillance in individuals at high-risk of pancreatic cancer: A systematic review and meta-analysis.
Signoretti Marianna et al. United European gastroenterology journal 2018 May 6(4) 489-499 -
Risk, Prediction and Prevention of Hereditary Breast Cancer - Large-Scale Genomic Studies in Times of Big and Smart Data.
Wunderle Marius et al. Geburtshilfe und Frauenheilkunde 2018 May 78(5) 481-492 -
Using Telemedicine to Bring Genetic Counseling to Community Cancer Care
Penn Medicine, May 30, 2018 -
Harnessing the Synergy Between Improvement Science and Implementation Science in Cancer: A Call to Action.
Koczwara Bogda et al. Journal of oncology practice 2018 May JOP1700083 -
2018 ASCO: Neoadjuvant Use of PARP Inhibitor Shows Promise in Early-Stage, BRCA-Mutated Breast Cancer
ASCO Post, June 5, 2018 -
SNPs in predicting clinical efficacy and toxicity of chemotherapy: walking through the quicksand.
Palmirotta Raffaele et al. Oncotarget 2018 May 9(38) 25355-25382 -
Monitoring circulating tumor DNA revealed dynamic changes in KRAS status in patients with metastatic colorectal cancer.
Takayama Yuji et al. Oncotarget 2018 May 9(36) 24398-24413 -
Circulating tumor cells in clinical research and monitoring patients with colorectal cancer.
Burz Claudia et al. Oncotarget 2018 May 9(36) 24561-24571 -
The Genomic Data Commons Turns 2: Progress in Clinical Tool Development
LM Staudt, NCI, Blog Post, May 31, 2018 -
Prostate cancer spit test is trialled
BBC News, June 11, 2018 -
Adjuvant Chemotherapy Guided by a 21-Gene Expression Assay in Breast Cancer.
Sparano Joseph A et al. The New England journal of medicine 2018 Jun -
Assessing the Clinical Utility & Validity of Liquid Biopsy
1 hour podcast from the College for American Pathologists -
NCI-MATCH precision medicine clinical trial releases new findings, strengthens path forward for targeted cancer therapies
NCI, June 4, 2018 -
Drugs OKd To Hit Tumor Genes Still a Basket of One. Are More Coming
A Lash, Xconomy, June 2018 -
Marketing personalized cancer treatments requires careful language.
Nature 2018 6 0. (7708) 5-6.Nature 2018 6 0. (7708) 5-6 -
Tailoring cancer treatment to genetic profile extends lives, study finds
J Glenza, The Guardian, June 6, 2018 -
Lower Relative Contribution of Positive Family History to Colorectal Cancer Risk with Increasing Age: A Systematic Review and Meta-Analysis of 9.28 Million Individuals.
Wong Martin C S et al. The American journal of gastroenterology 2018 Jun -
Prevalence of Clonal Hematopoiesis Mutations in Tumor-Only Clinical Genomic Profiling of Solid Tumors.
Ptashkin Ryan N et al. JAMA oncology 2018 Jun -
Should I Test Myself for BRCA Gene Mutations?
EK Howley, US News, June 1, 2018 -
Many breast cancer patients can skip chemo, big study finds
M Marchionne, Stat News, June 3, 2018 -
Catalysts towards cancer risk management action: A longitudinal study of reproductive-aged women with BRCA1/2 mutations.
Werner-Lin Allison et al. Journal of psychosocial oncology 2018 Jun 1-16 -
Characteristics of Lynch syndrome associated ovarian cancer.
Woolderink J M et al. Gynecologic oncology 2018 Jun -
Precision medicine based on surgical oncology in the era of genome-scale analysis and genome editing technology.
Tanaka Shinji et al. Annals of gastroenterological surgery 2018 Mar 2(2) 106-115 -
Germline genetic testing in prostate cancer - further enrichment in variant histologies?
Markowski Mark C et al. Oncoscience 2018 Mar 5(3-4) 62-64 -
Women's perceptions of the adoption of personalised risk-based breast cancer screening and primary prevention: a systematic review.
Rainey Linda et al. Acta oncologica (Stockholm, Sweden) 2018 Jun 1-9 -
A New Standard of Care for Advanced Lung Cancer.
Schiller Joan H et al. The New England journal of medicine 2018 378(22) 2135-2137 -
TAILORx trial finds most women with early breast cancer do not benefit from chemotherapy
NCI, June 3, 2018 -
Exosomes in lung cancer diagnosis and treatment. From the translating research into future clinical practice.
Masaoutis Christos et al. Biochimie 2018 May -
Characterizing the Cancer Genome in Blood.
Dawson Sarah-Jane et al. Cold Spring Harbor perspectives in medicine 2018 May -
Nivolumab plus Ipilimumab in Lung Cancer with a High Tumor Mutational Burden.
Hellmann Matthew D et al. The New England journal of medicine 2018 378(22) 2093-2104 -
How Early Is Too Early To Get A Colon Screening?
C Aschwanden, Five Thirty Eight, June 8, 2018 -
Despite risk of breast cancer, few men undergo genetic tests, study finds
E Rivero, UCLA News, May 31, 2018 -
2018 ASCO: Genomic Study Finds Lynch Syndrome Is Common Among Patients With MSI-High Tumors
ASCO Post, June 2, 2018 -
New approach to immunotherapy leads to complete response in breast cancer patient unresponsive to other treatments
NCI, June 4, 2018 -
Easing Concerns about Giving Research Study Participants Their Genetic Test Results
NCI, June 2018 -
Cancer epigenetics: Moving forward.
Nebbioso Angela et al. PLoS genetics 2018 Jun 14(6) e1007362 -
Can Immunotherapy Succeed in Glioblastoma?
NCI, May 2018 -
MSI-H Status May Predict Lynch Syndrome Across Varied Tumor Types
ASCO Daily News, June 4, 2018 -
Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci.
Schumacher Fredrick R, et al. Nature genetics 2018 6 0. -
Evaluation of Patients with an Apparent False Positive Stool DNA Test: The Role of Repeat Stool DNA Testing.
Cooper Gregory S et al. Digestive diseases and sciences 2018 63(6) 1449-1453 -
Biotech Firm Takes The First Steps In Its Quest For A Blood Test For Cancer
M Herper, Forbes, June 2, 2018 -
Applications of next-generation sequencing analysis for the detection of hepatocellular carcinoma-associated hepatitis B virus mutations.
Wu I-Chin et al. Journal of biomedical science 2018 Jun 25(1) 51 -
Lynch Syndrome Linked with More Cancers.
et al. Cancer discovery 2018 Jun -
Cancer and Men
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Test predicts whether chemotherapy will help early-stage breast cancer patients
NIH Research Matters, June 12, 2018 -
Tailoring Chemotherapy Decisions TAILORx Study Results
DJ Attai, Blog, June 4, 2018 -
Hereditary Nonpolyposis Colorectal Cancer and Cancer Syndromes: Recent Basic and Clinical Discoveries.
Chen Erbao et al. Journal of oncology 2018 20183979135 -
Impact of an optimized colonoscopic screening program for patients with Lynch syndrome: 6-year results of a specialized French network.
Perrod Guillaume et al. Therapeutic advances in gastroenterology 2018 111756284818775058 -
Precision Medicine for Breast Cancer: The Paths to Truly Individualized Diagnosis and Treatment.
Harris Eleanor E R et al. International journal of breast cancer 2018 20184809183 -
Formulation of Genetic Counseling Format for Adult Bangladeshi Patients with Acute Myeloid Leukemia.
Rahman M Z et al. Genetics research international 2018 20181534090 -
Identity, community and care in online accounts of hereditary colorectal cancer syndrome.
Ross Emily et al. New genetics and society 2018 37(2) 117-136 -
Good News for Women With Breast Cancer: Many Dont Need Chemo
D Grady, NY Times, June 2, 2018 -
Gene sequencing study finds new cancers linked with Lynch syndrome
J Steenhuysen, Reuters, June 2018 -
Whole-Genome Sequencing in Cancer.
Zhao Eric Y et al. Cold Spring Harbor perspectives in medicine 2018 May -
DNA mismatch repair protein deficient non-neoplastic colonic crypts: a novel indicator of Lynch syndrome.
Pai Rish K et al. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2018 Jun -
For Some Breast Cancer Patients, The Chemo Decision Just Got Easier
SK Watson, NPR, June 3, 2018 -
Uptake of Preimplantation Genetic Diagnosis in Female BRCA1 and BRCA2 Mutation Carriers.
Mor Pnina et al. Journal of genetic counseling 2018 Jun -
Risk-reducing mastectomy rates in the US: a closer examination of the Angelina Jolie effect.
Liede Alexander et al. Breast cancer research and treatment 2018 May -
Endometrial cancer: Molecular markers and management of advanced stage disease.
Arend Rebecca C et al. Gynecologic oncology 2018 May -
Japanese Society of Medical Oncology Clinical Guidelines: Molecular Testing for Colorectal Cancer Treatment, Third Edition.
Yamazaki Kentaro et al. Cancer science 2018 Jun 109(6) 2074-2079 -
The Role of Palliative Medicine in Assessing Hereditary Cancer Risk.
Abusamaan Mohammed S et al. The American journal of hospice & palliative care 2018 Jan 1049909118778865 -
Genomic Markers Can Predict the Presence of Lynch Syndrome across a Broad Spectrum of Cancers
MSKCC, June 2, 2018 -
Breast and ovarian cancer penetrance of BRCA1/2 mutations among Hong Kong women.
Zhang LingJiao et al. Oncotarget 2018 May 9(38) 25025-25033 -
BRCAmut and "founder effect": a prospective study in a single academic institution.
Loizzi Vera et al. Oncotarget 2018 Apr 9(32) 22353-22358 -
A Pap-Based Test to Detect Endometrial and Ovarian Cancers Early.
Abbasi Jennifer et al. JAMA 2018 May 319(18) 1853 -
Lung cancer early detection and health disparities: the intersection of epigenetics and ethnicity.
Lerner Lane et al. Journal of thoracic disease 2018 Apr 10(4) 2498-2507 -
A transcriptional MAPK Pathway Activity Score (MPAS) is a clinically relevant biomarker in multiple cancer types.
Wagle Marie-Claire et al. NPJ precision oncology 2018 2(1) 7 -
A Predictive 7-Gene Assay and Prognostic Protein Biomarkers for Non-small Cell Lung Cancer.
Guo Nancy Lan et al. EBioMedicine 2018 May -
Detection and reporting of RB1 promoter hypermethylation in diagnostic screening.
Price Elizabeth A et al. Ophthalmic genetics 2018 May 1-6 -
Cost-effectiveness of Osimertinib in the First-Line Treatment of Patients With EGFR-Mutated Advanced Non-Small Cell Lung Cancer.
Aguiar Pedro N et al. JAMA oncology 2018 May -
The uptake of presymptomatic genetic testing in hereditary breast-ovarian cancer and Lynch syndrome: a systematic review of the literature and implications for clinical practice.
Menko Fred H et al. Familial cancer 2018 May
Chronic Disease
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GENETICS IN ENDOCRINOLOGY: Genetic diagnosis of endocrine diseases by NGS: novel scenarios and unpredictable risks.
Persani Luca et al. European journal of endocrinology 2018 Jun -
Huntington's Disease Gene Expansion Carriers Are Aware of Their Degree of Apathy.
Baake Verena et al. The Journal of neuropsychiatry and clinical neurosciences 2018 May appineuropsych18020031 -
Single-Cell Chromatin Modification Profiling Reveals Increased Epigenetic Variations with Aging.
Cheung Peggie et al. Cell 2018 May 173(6) 1385-1397.e14 -
Precision medicine for multiple sclerosis promotes preventative medicine.
Hansen Madison R et al. Annals of the New York Academy of Sciences 2018 May 1420(1) 62-71 -
The human pain genetics database: an interview with Luda Diatchenko.
Diatchenko Luda et al. Pain management 2018 Jun -
Huntington's disease.
Brody Herb, et al. Nature 2018 5 0. (7707) S35 -
A MicroRNA Signature for Evaluation of Risk and Severity of Autoimmune Thyroid Diseases.
Martínez-Hernández Rebeca et al. The Journal of clinical endocrinology and metabolism 2018 103(3) 1139-1150 -
GBA-Associated Parkinson's Disease and Other Synucleinopathies.
Gan-Or Ziv et al. Current neurology and neuroscience reports 2018 Jun 18(8) 44 -
Jeanette Erdmann PhD.
Ozkan Judy, et al. European heart journal 2018 6 0. (22) 2024-2026 -
Integrated analysis of the genetic basis of suicidal behavior: what has been shown by structural genetic studies so far.
Bozorgmehr Ali et al. Psychiatric genetics 2018 Apr 28(2) 31-37 -
Suicide rising across the US- More than a mental health concern
CDC Vital Signs, June 2018 -
Genetic Testing of Maturity-Onset Diabetes of the Young Current Status and Future Perspectives.
Firdous Parveena et al. Frontiers in endocrinology 2018 9253 -
The KOUNCIL Consortium: From Genetic Defects to Therapeutic Development for Nephronophthisis.
Renkema Kirsten Y et al. Frontiers in pediatrics 2018 6131 -
A precision medicine trial in psoriatic arthritis-first jump in the deep end.
Leijten Emmerik F A et al. Rheumatology (Oxford, England) 2018 Jun -
The relationship of family history and risk of type 2 diabetes differs by ancestry.
Kral B G et al. Diabetes & metabolism 2018 May -
Huntington's Disease Outpatient Clinic for Functional Diagnosis and Treatment: Coming to Consensus: How Long Term Care Facility Procedures Complement Specialist Diagnosis and Treatment.
Veenhuizen Ruth et al. Journal of Huntington's disease 2018 7(2) 189-191 -
Targeted next-generation sequencing for the molecular diagnosis of hereditary angioedema due to C1-inhibitor deficiency.
Loules Gedeon et al. Gene 2018 Aug 66776-82 -
The Exposome Paradigm and the Complexities of Environmental Research in Psychiatry.
Guloksuz Sinan et al. JAMA psychiatry 2018 Jun -
Genetic screening in early-onset dementia patients with unclear phenotype: relevance for clinical diagnosis.
Perrone Federica et al. Neurobiology of aging 2018 May
Ethics/Policy/Law
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CRISPR ethics: Moral considerations for applications of a powerful tool.
Brokowski Carolyn et al. Journal of molecular biology 2018 Jun -
Medicine, market and communication: ethical considerations in regard to persuasive communication in direct-to-consumer genetic testing services.
Schaper Manuel et al. BMC medical ethics 2018 Jun 19(1) 56 -
Scott Gottlieb Expects the FDA to Approve 40 Gene Therapies by 2022
F Holme, Frontline Genomics, June 8, 2018 -
FDA Lifts Some Regulatory Hurdles for Genetic Health Risk Tests as Planned
Genomeweb, June 5, 2018 -
FDAs New Efforts to Advance Biotechnology Innovation
S Gotlieb et al, FDA Blog, June 6, 2018 -
Privacy and consumer genetic testing dont always mix
K Martin, Science News, June 5, 2018 -
Genealogy site MyHeritage says 92 million user accounts compromised
M Thielking, StatNews, June 5, 2018
Practice
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Implementation, adoption, and utility of family health history risk assessment in diverse care settings: evaluating implementation processes and impact with an implementation framework.
Wu R Ryanne et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jun -
The Undergraduate Training in Genomics (UTRIG) Initiative: early & active training for physicians in the genomic medicine era.
Wilcox Rebecca L et al. Personalized medicine 2018 May -
Opportunities for Epidemiologists in Implementation Science: A Primer.
Neta Gila et al. American journal of epidemiology 2018 May 187(5) 899-910 -
Assessing patient readiness for personalized genomic medicine.
Frost Caren J et al. Journal of community genetics 2018 May -
Genetic Testing: what You Need to Know
CDC Information -
Returning negative results to individuals in a genomic screening program: lessons learned.
Butterfield Rita M et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jun -
Medical genetics and genomic medicine in Nigeria.
Adeyemo Adebowale A et al. Molecular genetics & genomic medicine 2018 Jun -
Using genetic data to strengthen causal inference in observational research.
Pingault Jean-Baptiste, et al. Nature reviews. Genetics 2018 6 0. -
Awareness Prevention Education Family
Men's Health Month, International Men's Health week, June 11-17, 2018 -
Big Data for Public Health Policy-Making: Policy Empowerment.
Mählmann Laura et al. Public health genomics 2018 Apr -
Assessing Genetic Literacy Awareness and Knowledge Gaps in the US Population: Results from the Health Information National Trends Survey.
Krakow Melinda et al. Public health genomics 2018 May 1-6 -
Mapping Existing Education & Training for the Australian Clinical Genomic Workforce
Australian Genomics Health Alliance, June 2018 -
Genomic atlas of the human plasma proteome.
Sun Benjamin B, et al. Nature 2018 6 0. (7708) 73-79 -
Implementing Precision Cancer Medicine in the Genomic Era.
Chen Hui-Zi et al. Seminars in cancer biology 2018 May -
Genetic Testing & Technology - with Dr. Jim Evans
UNC Chapel Hill, Department of Medicine, June 8, 2018 -
Patient similarity for precision medicine: a systematic review.
Parimbelli E et al. Journal of biomedical informatics 2018 Jun -
Variants of Uncertain Significance: Should We Revisit How They Are Evaluated and Disclosed?
Morales Ana et al. Circulation. Genomic and precision medicine 2018 Jun 11(6) e002169 -
Editorial: Translation of Genomic Results Into Public Health Practice.
Djordjevic Natasa, et al. Frontiers in public health 2018 0 0. 156 -
Clinical Trial Participants' Views of the Risks and Benefits of Data Sharing.
Mello Michelle M et al. The New England journal of medicine 2018 Jun 378(23) 2202-2211 -
Clusters of genetic diseases in Brazil.
Cardoso Gabriela Costa et al. Journal of community genetics 2018 Jun -
Building Capacity for a Global Genome Editing Observatory: Conceptual Challenges.
Hurlbut J Benjamin et al. Trends in biotechnology 2018 Jun -
The Public's Awareness of and Attitude Toward Research Biobanks - A Regional German Survey.
Bossert Sabine et al. Frontiers in genetics 2018 9190 -
Disability and Health Data at Your Fingertips
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[Biobanking and the further development of precision medicine].
Dahl E et al. Der Pathologe 2018 Jun -
Who is having genetic testing?
TGMI Blog, June 8, 2018 -
Next-generation sequencing tests to become routine.
Ratner Mark et al. Nature biotechnology 2018 Jun 36(6) 484 -
The Utility of a Brief Web-Based Prevention Intervention as a Universal Approach for Risky Alcohol Use in College Students: Evidence of Moderation by Family History.
Neale Zoe E et al. Frontiers in psychology 2018 9747 -
Understanding the potential of state-based public health genomics programs to mitigate disparities in access to clinical genetic services.
Senier Laura, et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 6 0. -
Using Genetic Risk Scores in the Prevention & Control of Common Diseases: Opportunities & Challenges
1-hour youtube video, NCI Precision Medicine and Population Health Webinar, May 31, 2018 -
'Your DNA, Your Say': global survey gathering attitudes toward genomics: design, delivery and methods.
Middleton Anna et al. Personalized medicine 2018 Jun -
Pervasive genetic testing.
Thiruchelvam Paul T R et al. Lancet (London, England) 2018 May 391(10135) 2089-2091 -
The Best Jobs of 2018
Number 1: Genetic Counseling, CareerCast, May 2018 -
H3Africa Research Framework Builds on work of the GA4GH
GA4GH, June 8, 2018 -
A Science Writer Explores The 'Perversions And Potential' Of Genetic Tests
T Gross, NPR, June 11, 2018 -
A serious new hurdle for CRISPR: Edited cells might cause cancer, find two studies
S Begley, Stat News, June 11, 2018 -
Mens Health Month
National Library of Medicine, June 2018 -
Current Approaches to Cancer Genetic Counseling Services for Spanish-Speaking Patients.
Augusto Bianca et al. Journal of immigrant and minority health 2018 Jun -
Influence of ethnicity on population reference values for biochemical markers.
Tahmasebi Houman et al. Critical reviews in clinical laboratory sciences 2018 Jun 1-17 -
CoverView: a sequence quality evaluation tool for next generation sequencing data.
Münz Márton et al. Wellcome open research 2018 336 -
Empowering genomic medicine by establishing critical sequencing result data flows: the eMERGE example.
Aronson Samuel et al. Journal of the American Medical Informatics Association : JAMIA 2018 May -
Patient Similarity Networks for Precision Medicine.
Pai Shraddha et al. Journal of molecular biology 2018 May
Heart, Lung, Blood and Sleep Diseases
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Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center.
Mazzarotto Francesco et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jun -
Role of genetic heart disease in sentinel sudden cardiac arrest survivors across the age spectrum.
Giudicessi John R et al. International journal of cardiology 2018 May -
Guidelines for Diagnosis and Treatment of Familial Hypercholesterolemia 2017.
Harada-Shiba Mariko et al. Journal of atherosclerosis and thrombosis 2018 Jun -
Recent Findings in the Genetics of Blood Pressure: How to Apply in Practice or Is a Moonshot Required?
Padmanabhan Sandosh et al. Current hypertension reports 2018 Jun 20(6) 54 -
Cardio-metabolic disease genetic risk factors among Māori and Pacific Island people in Aotearoa New Zealand: current state of knowledge and future directions.
Merriman Tony R et al. Annals of human biology 2018 May 45(3) 202-214 -
Management of patients with ventricular arrhythmias and prevention of sudden cardiac death-translating guidelines into practice: results of the European Heart Rhythm Association survey.
Haugaa Kristina H et al. Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology 2018 Jun -
Cost-utility analysis of searching electronic health records and cascade testing to identify and diagnose familial hypercholesterolaemia in England and Wales.
Crosland Paul et al. Atherosclerosis 2018 May 27580-87 -
Validation of LDLr Activity as a Tool to Improve Genetic Diagnosis of Familial Hypercholesterolemia: A Retrospective on Functional Characterization of LDLr Variants.
Benito-Vicente Asier et al. International journal of molecular sciences 2018 Jun 19(6) -
Communication with children about sickle cell disease: A qualitative study of parent experience.
Middleton Joanne et al. British journal of health psychology 2018 Jun -
Pancreatic lipomatosis in Diamond-Blackfan anemia: The importance of genetic testing in bone marrow failure disorders.
Gansner John M et al. American journal of hematology 2018 Jun -
The Use of Precision Medicine to Manage Obstructive Sleep Apnea Treatment in Patients with Resistant Hypertension: Current Evidence and Future Directions.
Sapiña Esther et al. Current hypertension reports 2018 Jun 20(7) 60 -
Genetic Risk Stratification: Tipping Point for Global Primary Prevention of Coronary Artery Disease.
Roberts Robert, et al. Circulation 2018 6 0. (24) 2554-2556 -
Don't Leave it to the Coroner
A Sheldon, The FH Foundation, June 4, 2018 -
Men and Heart Disease Fact Sheet
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Basics About Hemophilia
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PCSK9 genetic variants, life-long lowering of LDL-cholesterol and cognition: a large-scale Mendelian randomization study
D Lyall et al, BioRxIV preprints, May 31, 2018 -
Protect Your Heart from Tobacco
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Stimulating Implementation Science in Genomics and Precision Medicine for Heart, Lung, Blood and Sleep Diseases: The Case of Familial Hypercholesterolemia
MJ Khoury et al, Blog Post, June 5, 2018 -
Ability of Patients to Distinguish Among Cardiac Genomic Variant Subclassifications.
Hellwig Lydia D et al. Circulation. Genomic and precision medicine 2018 Jun 11(6) e001975 -
Tailoring the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Guidelines for the Interpretation of Sequenced Variants in the FBN1 Gene for Marfan Syndrome: Proposal for a Disease- and Gene-Specific Guideline.
Muiño-Mosquera Laura et al. Circulation. Genomic and precision medicine 2018 Jun 11(6) e002039 -
Using Omics to Understand and Treat Pulmonary Vascular Disease.
Hemnes Anna R et al. Frontiers in medicine 2018 5157 -
Recent Progress in Genome Editing Approaches for Inherited Cardiovascular Diseases.
Kaur Balpreet et al. Current cardiology reports 2018 Jun 20(7) 58 -
Balancing Affordability And Access: Lessons From New Cholesterol-Lowering Drugs
JA Doshi et al, Health Affairs, June 5, 2018 -
[Genetic tests in hypertrophic cardiomyopathy: Benefits, limitations, and applications in clinical practice].
Gómez Arraiz I et al. Semergen 2018 May -
Induced Pluripotent Stem Cells for Cardiovascular Disease Modeling and Precision Medicine: A Scientific Statement From the American Heart Association.
Musunuru Kiran et al. Circulation. Genomic and precision medicine 2018 Jan 11(1) e000043 -
Polygenic Risk Score for Coronary Heart Disease Modifies the Elevated Risk by Cigarette Smoking for Disease Incidence.
Hindy George et al. Circulation. Genomic and precision medicine 2018 Jan 11(1) e001856 -
Life-long tailoring of diagnosis and management of patients with idiopathic ventricular fibrillation-future perspectives in research.
Blom L J et al. Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation 2018 Jun
Newborn Screening
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Gene therapy is saving childrens livesbut screening to discover who needs it is lagging behind
E Mullin, Tech Review, May 31, 2018 -
Neonatal screening for four lysosomal storage diseases with a digital microfluidics platform: Initial results in Brazil.
Camargo Neto Eurico et al. Genetics and molecular biology 2018 Jun 0 -
SCID Newborn Screening Campaign
Immune Deficiency Foundation, 2018 -
Characteristics and outcomes of patients with formiminoglutamic aciduria detected through newborn screening.
Ahrens-Nicklas Rebecca C et al. Journal of inherited metabolic disease 2018 Jun -
Case Definitions for Conditions Identified by Newborn Screening Public Health Surveillance.
Sontag Marci K et al. International journal of neonatal screening 2018 4(2) 16 -
Incidence of 4 Lysosomal Storage Disorders From 4 Years of Newborn Screening.
Hopkins Patrick V et al. JAMA pediatrics 2018 May -
A New Integrated Newborn Screening Workflow Can Provide a Shortcut to Differential Diagnosis and Confirmation of Inherited Metabolic Diseases.
Ko Jung Min et al. Yonsei medical journal 2018 Jul 59(5) 652-661 -
Universal newborn screening: A roadmap for action.
Howson C P et al. Molecular genetics and metabolism 2018 Apr -
Clinical Relevant Polymorphisms Affecting Clopidogrel Pharmacokinetics and Pharmacodynamics: Insights from the Puerto Rico Newborn Screening Program.
Hernandez-Suarez Dagmar F et al. International journal of environmental research and public health 2018 May 15(6)
Pharmacogenomics
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NIH leadership outlines interdisciplinary FY2018 research plan for HEAL Initiative
NIH, June 12, 2018 -
Human Genetics of Addiction: New Insights and Future Directions.
Hancock Dana B et al. Current psychiatry reports 2018 Mar 20(2) 8 -
Personalized Medicine and Customized Drug Delivery Systems: The New Trend of Drug Delivery and Disease Management.
Soni Abhishek et al. International journal of pharmaceutical compounding 22(2) 108-121 -
Pharmacogenomics: Precision Pharmacy in 503A Compounding.
Drummond Joseph et al. International journal of pharmaceutical compounding 22(2) 95-107 -
Mapping risk factors for depression across the lifespan: An umbrella review of evidence from meta-analyses and Mendelian randomization studies.
Köhler Cristiano A et al. Journal of psychiatric research 2018 May 103189-207 -
Cytochrome P450 genotype-guided drug therapies: an update on current states.
Dong Amelia Nathania et al. Clinical and experimental pharmacology & physiology 2018 Jun -
An Ambitious Research Plan to Help Solve the Opioid Crisis
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Stargazer: a software tool for calling star alleles from next-generation sequencing data using CYP2D6 as a model.
Lee Seung-Been et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jun -
Pharmacogenetic testing in the Veterans Health Administration (VHA): policy recommendations from the VHA Clinical Pharmacogenetics Subcommittee.
Vassy Jason L et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jun -
The Role of Next-Generation Sequencing in Pharmacogenetics and Pharmacogenomics.
Schwarz Ute I et al. Cold Spring Harbor perspectives in medicine 2018 May -
Pharmacogenomics: From classroom to practice.
Nutter Samantha C et al. Molecular genetics & genomic medicine 2018 May
Reproductive Health
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The development of an online decision aid to support persons having a genetic predisposition to cancer and their partners during reproductive decision-making: a usability and pilot study.
Reumkens Kelly et al. Familial cancer 2018 May -
Maternal age-specific risk for trisomy 21 based on the clinical performance of NIPT and empirically derived NIPT age-specific positive and negative predictive values in Japan.
Yamada Takahiro et al. Journal of human genetics 2018 May -
Clinical evaluation of NIPS for women at advanced maternal age: a multicenter retrospective study.
Yu Bin et al. The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2018 May 1-171 -
The clinical utility of genetic testing of tissues from pregnancy losses.
Waterman C A et al. BJOG : an international journal of obstetrics and gynaecology 2018 Jun 125(7) 867-873 -
Guidelines call for limits to whole genome testing for fetuses
L Sanders, Science News, May 31, 2018 -
TRENDS IN INVASIVE PRENATAL DIAGNOSTIC TESTING AT A SINGLE INSTITUTION.
Awomolo Adeola et al. Prenatal diagnosis 2018 May -
Prospective chromosome analysis of 3429 amniocentesis samples in China using copy number variation sequencing.
Wang Jing et al. American journal of obstetrics and gynecology 2018 May -
Clinical application of a protocol based on universal next-generation sequencing for the diagnosis of beta-thalassaemia and sickle cell anaemia in preimplantation embryos.
Kubikova Nada et al. Reproductive biomedicine online 2018 May -
[Performance of prenatal screening by non-invasive cell-free fetal DNA testing for women with various indications].
Zhang Bin et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2018 Feb 35(1) 51-55 -
Cross-cultural perspectives on decision making regarding noninvasive prenatal testing: A comparative study of Lebanon and Quebec.
Haidar Hazar et al. AJOB empirical bioethics 9(2) 99-111