Publication Date: Jun 12, 2018
About the Genomics & Health Impact Weekly Scan
This weekly update features emerging roles of human genomics, testing and interventions in a wide variety of noncommunicable diseases across the life span, including, birth defects, newborn screening, reproductive health, childhood diseases, cancer, chronic diseases, pharmacogenomics, family health history, guidelines and recommendations. The weekly sweep also includes news, reviews, commentaries, tools and databases. View Data Selection Criteria
Human Genomics across the Lifespan
Birth Defects and Child Health
- 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?
JM Friedman et al, Genetics in Medicine, June 12, 2018 - 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
- 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
- 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 OK’d 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 editorial, June 1, 2018 - 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
FR Shcumacher et al, Nature Genetics, June 11, 2018 - 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
- 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 Don’t 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 - Screening for Prostate Cancer: US Preventive Services Task Force Recommendation Statement.
et al. JAMA 2018 319(18) 1901-1913 - 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
- 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 Despite gaps in our understanding of the biology that underlies this neurodegenerative condition, potential treatments are on the horizon.
H Brody, Nature Outlook, May 30, 2018 - 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
J Ozkan, Eur Heart J, June 7, 2018 - 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
Ethical, Legal and Social Issues (ELSI)
- 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 - FDA’s New Efforts to Advance Biotechnology Innovation
S Gotlieb et al, FDA Blog, June 6, 2018 - Privacy and consumer genetic testing don’t always mix
K Martin, Science News, June 5, 2018 - Genealogy site MyHeritage says 92 million user accounts compromised
M Thielking, StatNews, June 5, 2018
General Practice
- 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 - Tobacco Product Use Among Middle and High School Students - United States, 2011-2017.
Wang Teresa W et al. MMWR. Morbidity and mortality weekly report 2018 Jun 67(22) 629-633 - 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
JB Pingault et al, Nat Rev Genetics, June 5, 2018 - 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 - NIH releases strategic plan for data science
NIH, June 4, 2018 - Genomic atlas of the human plasma proteome
BB Sun et al, Nature, June 6, 2018 - 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
Frontiers in Public Health, May 2018 - 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
- [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
L Senier et al, Genetics in Medicine, June 12, 2018 - 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 - ‘Your DNA, Your Say’: global survey gathering attitudes toward genomics: design, delivery and methods
A Middleton et al, Future Medicine, June 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 - Men’s 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
- 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
R Roberts, Circulation, June 11, 2018 - Don't Leave it to the Coroner
A Sheldon, The FH Foundation, June 4, 2018 - Men and Heart Disease Fact Sheet
- Basics About Hemophilia
- 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
- 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 Risk Stratification- Tipping Point for Global Primary Prevention of Coronary Artery Disease
R Roberts, Circulation, June 11, 2018 - 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
L Muino-Mosquera et al, Circulation: Genomic and Precision Medicine, June 6, 2018 - 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
F. Mazzaratto et al, Genetics in Medicine, June 6, 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
- Gene therapy is saving children’s lives—but 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
- 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
- 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
- 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
Disclaimer: Articles listed in Health Impact Weekly Scan are selected by the CDC Office of Public Health Genomics to provide current awareness of the scientific literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the Clips, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
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