Publication Date: Jun 21, 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
- The Utility of Next-Generation Sequencing for Primary Immunodeficiency Disorders: Experience from a Clinical Diagnostic Laboratory.
Bisgin Atil et al. BioMed research international 2018 20189647253 - Role of Targeted Next Generation Sequencing in the Etiological Work-Up of Congenitally Deaf Children.
Boudewyns An et al. Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2018 Jul 39(6) 732-738 - Blood-Bourne MicroRNA Biomarker Evaluation in Attention-Deficit/Hyperactivity Disorder of Han Chinese Individuals: An Exploratory Study.
Wang Liang-Jen et al. Frontiers in psychiatry 2018 9227 - Biobanking in the Pediatric Critical Care Setting: Adolescent/Young Adult Perspectives.
Paquette Erin D et al. Journal of empirical research on human research ethics : JERHRE 2018 Jun 1556264618782231 - Congenital Diabetes: Comprehensive Genetic Testing Allows for Improved Diagnosis and Treatment of Diabetes and Other Associated Features.
Letourneau Lisa R et al. Current diabetes reports 2018 Jun 18(7) 46 - 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 Jun - Evaluation of stillbirth.
Page Jessica M et al. Current opinion in obstetrics & gynecology 2018 Apr 30(2) 130-135 - In a Genomic Era, Placental Pathology Still Holds the Key in the Nondysmorphic Stillbirth.
Campbell Jamie et al. Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society 21(3) 308-318 - The INCLUDE Project Research Plan- (INvestigation of Co-occurring conditions across the Lifespan to Understand Down syndrome)
- Genomic testing for the causes of stillbirth should be considered for routine use
Eureka Alert, June 18, 2018 - Transition from pediatric to adult care in adolescents with hereditary metabolic diseases: Specific guidelines from the French network for rare inherited metabolic diseases (G2M).
Chabrol B et al. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2018 Jun - Demographic and Psychosocial Influences on Treatment Adherence for Children and Adolescents with PKU: A Systematic Review.
Medford Emma et al. JIMD reports 2018 39107-116 - Guidelines for the investigation and management of Transient Leukaemia of Down Syndrome.
Tunstall Oliver et al. British journal of haematology 2018 Jun - New Treatment for Phenylketonuria (PKU) Clears Brain Fog
R Lewis, PLOS Blogs, June 14, 2018 - Feasibility of analysis of the SCN5A gene in paraffin embedded samples in sudden infant death cases at the Pretoria Medico-Legal Laboratory, South Africa.
van Deventer Barbara Ströh et al. Forensic science, medicine, and pathology 2018 Jun - With tantalizing early results, Sarepta’s gene therapy for Duchenne raises hopes for ‘real change’
A Feuerstein, StatNews, June 19, 2018 - Conceptualization and Implementation of the Central Information Portal on Rare Diseases: Protocol for a Qualitative Study.
Litzkendorf Svenja et al. JMIR research protocols 2018 May 7(5) e112 - Rapid genome sequencing could revolutionize health care for acutely ill babies
SE Richards, Washington Post, June 2018 - Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Waggoner Darrel et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jun - Whole Genome Sequencing Reduces Healthcare Costs
Frontline Genomics, June 2018
Cancer
- Optimization of a microfluidics-based next generation sequencing assay for clinical oncology diagnostics.
Henzler Christine et al. Annals of translational medicine 2018 May 6(9) 162 - Colorectal cancer genomics and designing rational trials.
Mondaca Sebastian et al. Annals of translational medicine 2018 May 6(9) 159 - [The place of cancer's cure in the personalized medicine and immunotherapy].
Torregrosa Cecile et al. Bulletin du cancer 2018 Mar 105(3) 220-221 - Current and Future Molecular Testing in NSCLC, What Can We Expect from New Sequencing Technologies?
Garinet Simon et al. Journal of clinical medicine 2018 Jun 7(6) - Tumor mutational burden analysis of 2,000 Japanese cancer genomes using whole exome and targeted gene panel sequencing.
Hatakeyama Keiichi et al. Biomedical research (Tokyo, Japan) 2018 39(3) 159-167 - Establishment of a 12-gene expression signature to predict colon cancer prognosis.
Sun Dalong et al. PeerJ 2018 6e4942 - Standardizing And Democratizing Access To Cancer Molecular Diagnostic Test Data From Patients To Drive Translational Research.
Madhavan Subha et al. AMIA Joint Summits on Translational Science proceedings. AMIA Joint Summits on Translational Science 2018 2017152-159 - Clinical application and utility of genomic assays in early-stage breast cancer: key lessons learned to date.
Chia S K L et al. Current oncology (Toronto, Ont.) 2018 Jun 25(Suppl 1) S125-S130 - Barriers and Facilitators to Melanoma Prevention and Control Behaviors Among At-Risk Children.
Wu Yelena P et al. Journal of community health 2018 Apr - Modifiable Lifestyle Factors: Opportunities for (Hereditary) Breast Cancer Prevention - a Narrative Review.
Lammert Jacqueline et al. Breast care (Basel, Switzerland) 2018 Apr 13(2) 109-114 - Genomic and epigenetic signatures associated with survival rate in oral squamous cell carcinoma patients.
Ribeiro Ilda Patrícia et al. Journal of Cancer 2018 9(11) 1885-1895 - The Search for Cancer Treatment That Is Personal and Useful
S Mukherjee, New York Times, June 13, 2018 - Utility of Genetic Testing in Addition to Mammography for Determining Risk of Breast Cancer Depends on Patient Age.
Feld Shara I et al. AMIA Joint Summits on Translational Science proceedings. AMIA Joint Summits on Translational Science 2018 201781-90 - Precision Medicine in Head and Neck Cancer: Myth or Reality?
Malone Eoghan et al. Clinical Medicine Insights. Oncology 2018 121179554918779581 - Selection and Application of Tissue microRNAs for Non-endoscopic Diagnosis of Barrett's Esophagus.
Li Xiaodun et al. Gastroenterology 2018 Jun - Preventive, predictive, and personalized medicine for effective and affordable cancer care.
Janssens Jaak Ph et al. The EPMA journal 2018 Jun 9(2) 113-123 - Real-time genomic characterization of advanced pancreatic cancer to enable precision medicine.
Aguirre Andrew J et al. Cancer discovery 2018 Jun - Physical activity and the risk of colorectal cancer in Lynch syndrome.
Dashti S Ghazaleh et al. International journal of cancer 2018 Jun - Update on multiple endocrine neoplasia Type 1 and 2.
Al-Salameh Abdallah et al. Presse medicale (Paris, France : 1983) 2018 Jun - Circulating miRNAs in blood and urine as diagnostic and prognostic biomarkers for bladder cancer: an update in 2017.
Tölle Angelika et al. Biomarkers in medicine 2018 Jun - Impact of Emergent Circulating Tumor DNA RAS Mutation in Panitumumab-Treated Chemoresistant Metastatic Colorectal Cancer.
Kim Tae Won et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2018 Jun - Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.
Whitworth James et al. American journal of human genetics 2018 Jun - Primary Melanoma Histologic Subtype: Impact on Survival and Response to Therapy.
Lattanzi Michael et al. Journal of the National Cancer Institute 2018 Jun - The classification of pediatric and young adult renal cell carcinomas registered on the Children's Oncology Group (COG) protocol AREN03B2 after focused genetic testing.
Cajaiba Mariana M et al. Cancer 2018 Jun - Diagnostic value and lymph node metastasis prediction of a custom‑made panel (thyroline) in thyroid cancer.
Ke Zunfu et al. Oncology reports 2018 Jun - The emerging potential for network analysis to inform precision cancer medicine.
Ozturk Kivilcim et al. Journal of molecular biology 2018 Jun - Cancer prevention by aspirin in children with Constitutional Mismatch Repair Deficiency (CMMRD).
Leenders Erika K S M et al. European journal of human genetics : EJHG 2018 Jun - Circulating Tumor DNA Assays in Clinical Cancer Research
MR Ossandon et al, JNCI, June 2018 - Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer.
Hu Chunling et al. JAMA 2018 319(23) 2401-2409 - MALBAC-based chromosomal imbalance analysis: a novel technique enabling effective non-invasive diagnosis and monitoring of bladder cancer.
Liu Hao et al. BMC cancer 2018 Jun 18(1) 659 - PIK3CA-mutation profiling in patients with breast cancer, using a highly sensitive detection system.
Shimoi Tatsunori et al. Cancer science 2018 Jun - Precision Prevention and Early Detection of Cancer: Fundamental Principles.
Rebbeck Timothy R et al. Cancer discovery 2018 Jun - Evaluating the role of public health in implementation of genomics-related recommendations: a case study of hereditary cancers using the CDC Science Impact Framework.
Green Ridgely Fisk et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jun - Mayo Clinic discovers genetic links to pancreatic cancer
S Buckles, Mayo Clinic, June 19, 2018 - The practice of universal screening for Lynch syndrome in newly diagnosed endometrial carcinoma
A Wang et al, Health Services Reports, June 2018 - Barriers to genomic testing get in the way of precision medicine
C Nabhan, StatNews, June 19, 2018 - Males with BRCA mutations have increased risk of certain cancers
MedicalXpress, April 2018 - Breast Cancer in Men.
Giordano Sharon H et al. The New England journal of medicine 2018 Jun 378(24) 2311-2320 - Pathology at the forefront of liquid biopsy implementation
PHG foundation, June 20, 2018 - Germline Genetic Testing for Pancreatic Ductal Adenocarcinoma at Time of Diagnosis.
Syngal Sapna et al. JAMA 2018 319(23) 2383-2385 - Using Somatic Mutations from Tumors to Classify Variants in Mismatch Repair Genes.
Shirts Brian H et al. American journal of human genetics 2018 May - Subclassification, survival prediction and drug target analyses of chemotherapy-naïve muscle-invasive bladder cancer with a molecular screening.
Rinaldetti Sebastien et al. Oncotarget 2018 May 9(40) 25935-25945 - Targeted DNA sequencing of non-small cell lung cancer identifies mutations associated with brain metastases.
Wilson George D et al. Oncotarget 2018 May 9(40) 25957-25970 - Docetaxel Treatment in PTEN- and ERG-aberrant Metastatic Prostate Cancers.
Rescigno Pasquale et al. European urology oncology 2018 May 1(1) 71-77 - Emerging application of genomics-guided therapeutics in personalized lung cancer treatment.
Zaman Aubhishek et al. Annals of translational medicine 2018 May 6(9) 160 - PIK3CA Mutations in Hormone Receptor-Positive Breast Cancers: PIKing Biomarkers to Inform Adjuvant Endocrine Therapy Decisions.
Stearns Vered et al. JAMA oncology 2018 Jun - Older women with a family history of breast cancer face increased risk of the disease.
Printz Carrie et al. Cancer 2018 Jul 124(13) 2673 - Online genetic test gives woman false hope of cancer-free life
C Harrop, CBC News, June 20, 2018
Chronic Disease
- Exon Array Biomarkers for the Differential Diagnosis of Schizophrenia and Bipolar Disorder.
Vawter Marquis Philip et al. Molecular neuropsychiatry 2018 May 3(4) 197-213 - Pharmaco-genetic therapeutics targeting parvalbumin neurons attenuate temporal lobe epilepsy.
Wang Ying et al. Neurobiology of disease 2018 Jun 117149-160 - Human Genetics of Obesity and Type 2 Diabetes Mellitus: Past, Present, and Future.
Ingelsson Erik et al. Circulation. Genomic and precision medicine 2018 Jun 11(6) e002090 - A Nasal Brush-based Classifier of Asthma Identified by Machine Learning Analysis of Nasal RNA Sequence Data.
Pandey Gaurav et al. Scientific reports 2018 Jun 8(1) 8826 - How genetic studies are helping to explain the global surge of type 2 diabetes
MRC Epidemiology Unit, June 18, 2018 - Molecular genetic analysis for periodic fever syndromes: a supplemental role for the diagnosis of adult-onset Still's disease.
Li Hongbin et al. Clinical rheumatology 2018 Jun - Low Rates of Screening for Celiac Disease Among Family Members.
Faye Adam S et al. Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association 2018 Jun - Genomic insights into the causes of type 2 diabetes
C Langenberg, et al. The Lancet, June 14, 2018 - Type 1 diabetes
LA DiMeglio et al, The Lancet June 14, 2018 - Toward Precision Medicine for Neurological and Neuropsychiatric Disorders.
Gibbs Rebecca M et al. Cell stem cell 2018 May - Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders.
Montaut Solveig et al. JAMA neurology 2018 Jun - Recommendations on Collecting and Storing Samples for Genetic Studies in Hearing and Tinnitus Research.
Szczepek Agnieszka J et al. Ear and hearing 2018 Jun - Developing a network view of type 2 diabetes risk pathways through integration of genetic, genomic and functional data
JF Tajes, BioRXIV, June 20, 2018
Ethical, Legal and Social Issues (ELSI)
- Sociogenetic Risks - Ancestry DNA Testing, Third-Party Identity, and Protection of Privacy.
May Thomas et al. The New England journal of medicine 2018 Jun - Real-time Protection of Genomic Data Sharing in Beacon Services.
Bu Diyue et al. AMIA Joint Summits on Translational Science proceedings. AMIA Joint Summits on Translational Science 2018 201745-54 - How Could the Ethical Management of Health Data in the Medical Field Inform Police Use of DNA?
Krikorian Gaelle et al. Frontiers in public health 2018 6154 - 5 biggest risks of sharing your DNA with consumer genetic-testing companies
CNBC, June 16, 2018 - "I don't want to be Henrietta Lacks": diverse patient perspectives on donating biospecimens for precision medicine research.
Lee Sandra S-J et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jun - How are genetic test results being used by Australian life insurers?
Barlow-Stewart K et al. European journal of human genetics : EJHG 2018 Jun - First, do no harm: direct-to-consumer genetic testing.
Schleit Jennifer et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jun - When genomic medicine reveals misattributed genetic relationships-the debate about disclosure revisited.
Wright C F et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jun - I handed over my genetic data to the NIH. Here’s why you should, too
E Dishman, All of uS, StatNews, June 13, 2018 - Ethical concerns on sharing genomic data including patients' family members.
Takashima Kyoko et al. BMC medical ethics 2018 Jun 19(1) 61 - Deleting your online DNA data is brutally difficult
KV Brown, Bloomberg News, June 15, 2018 - Lawmakers press genetic testing companies for details on their privacy policies,
by Megan Thielking, STAT, June 21, 2018
General Practice
- A theory-informed systematic review of clinicians' genetic testing practices.
Paul Jean L et al. European journal of human genetics : EJHG 2018 Jun - Differences in attitudes toward genetic testing among the public, patients, and health-care professionals in Korea.
Eum Heesang et al. European journal of human genetics : EJHG 2018 Jun - A Statistical Framework to Interpret Individual Response to Intervention: Paving the Way for Personalized Nutrition and Exercise Prescription.
Swinton Paul A et al. Frontiers in nutrition 2018 541 - Prototype of a Standards-Based EHR and Genetic Test Reporting Tool Coupled with HL7-Compliant Infobuttons.
Crump Jacob K et al. AMIA Joint Summits on Translational Science proceedings. AMIA Joint Summits on Translational Science 2018 2017330-339 - POLARIS: Polygenic LD-adjusted risk score approach for set-based analysis of GWAS data.
Baker Emily et al. Genetic epidemiology 2018 Jun 42(4) 366-377 - Influence of Concussion History and Genetics on Event-Related Potentials in Athletes: Potential Use in Concussion Management.
Guth Taylor et al. Sports (Basel, Switzerland) 2018 Jan 6(1) - Creating a common language: defining individualized, personalized and precision prevention in public health.
Bíró K et al. Journal of public health (Oxford, England) 2018 Apr - Interpreting Chromosomal Rearrangements in the Context of 3-Dimentional Genome Organization: A Practical Guide for Medical Genetics.
Fishman V S et al. Biochemistry. Biokhimiia 2018 Apr 83(4) 393-401 - Editorial: Translation of Genomic Results Into Public Health Practice.
Djordjevic Natasa et al. Frontiers in public health 2018 6156 - GNOMICS: A one-stop shop for biomedical and genomic data.
Kronk Charles J et al. AMIA Joint Summits on Translational Science proceedings. AMIA Joint Summits on Translational Science 2018 2017118-123 - Individual access to genomic disease risk factors has a beneficial impact on lifestyles
Science Daily, June 15, 2018 - 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 Jun - Comparison of Nutrigenomics Technology Interface Tools for Consumers and Health Professionals: Protocol for a Mixed-Methods Study.
Littlejohn Paula et al. JMIR research protocols 2018 Jun 7(6) e115 - How do consent forms for diagnostic high-throughput sequencing address unsolicited and secondary findings? A content analysis.
Vears D F et al. Clinical genetics 2018 Jun - Development of a consent resource for genomic data sharing in the clinical setting.
Riggs Erin Rooney et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jun - Development of a consensus approach for return of pathology incidental findings in the Genotype-Tissue Expression (GTEx) project.
Lockhart Nicole C et al. Journal of medical ethics 2018 Jun - Physicians' perspectives on receiving unsolicited genomic results.
Pet Douglas B et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jun - Precision Medicine: Genomic Testing for the Healthy Individual
Online Course for Healthcare Providers, Jackson Lab, June 2018 - Developing a ‘2020 Vision’ for Genomics
E Green, ASHG Blog Post, June 2018 - A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative.
Shashi Vandana et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jun - Are Genetic Testing Sites the New Social Networks?
A Krueger, NY Times, June 16, 2018 - Know your family history,
KJRH, June 12, 2018 - Consumer Genetic Testing Is Booming: But What are the Benefits and Harms to Individuals and Populations?
S Bowen et al, CDC Blog, June 12, 2018 - Clinical validation of the Tempus xO assay.
Beaubier Nike et al. Oncotarget 2018 May 9(40) 25826-25832 - Importance of Variant Interpretation in Whole-Exome Molecular Autopsy: Population-Based Case Series.
Shanks Garrett W et al. Circulation 2018 Jun 137(25) 2705-2715 - Clinical Genomics in Physical Therapy: Where to From Here?
Cornwall Jon et al. Physical therapy 2018 Jun - Results Of At-Home Genetic Tests For Health Can Be Hard To Interpret
R Stein, NPR, June 18, 2018
Heart, Lung, Blood and Sleep Diseases
- New layers in research, treatment of sickle cell trait and stroke
American Heart Association News, June 19, 2018 - Results of next generation sequencing gene panel diagnostics including copy number variation analysis in 810 patients suspected of heritable thoracic aortic disorders.
Overwater Eline et al. Human mutation 2018 Jun - Characterizing drug-related adverse events by joint analysis of biomedical and genomic data: A case study of drug-induced pulmonary fibrosis.
Jiang Alex et al. AMIA Joint Summits on Translational Science proceedings. AMIA Joint Summits on Translational Science 2018 201791-97 - [Awareness and attitudes of 50 congolese families affected by sickle cell disease: a local survey].
Mukinayi Benoît Mbiya et al. The Pan African medical journal 2018 2924 - Towards precision medicine: The application of omics technologies in asthma management.
Scelfo Chiara et al. F1000Research 2018 7423 - Novel concept to guide systolic heart failure medication by repeated biomarker testing-results from TIME-CHF in context of predictive, preventive, and personalized medicine.
Davarzani Nasser et al. The EPMA journal 2018 Jun 9(2) 161-173 - Big Data for a Big Problem: Precision Medicine of Stroke in Neurocritical Care.
Liebeskind David S et al. Critical care medicine 2018 Jul 46(7) 1189-1191 - ILDgenDB: integrated genetic knowledge resource for interstitial lung diseases (ILDs).
Mishra Smriti et al. Database : the journal of biological databases and curation 2018 2018 - Pharmacogenomic studies of hypertension: paving the way for personalized antihypertensive treatment.
Eadon Michael T et al. Expert review of precision medicine and drug development 2018 3(1) 33-47 - Mendelian Randomization Evidence for Cardiovascular Precision Medicine
C O'Donnell, JAMA Cardiology, June 20, 2018 - Changing A Family History of Heart Disease, One Day at a Time
R Shipman, The FH Foundation, June 19, 2018 - Bringing Autopsies Into the Molecular Genetic Era.
Judge Daniel P et al. Circulation 2018 Jun 137(25) 2727-2729 - Familial hypercholesterolemia in very young myocardial infarction.
Li Sha et al. Scientific reports 2018 Jun 8(1) 8861 - Clinical and molecular markers in COPD.
Gonçalves I et al. Pulmonology 2018 Jun - Sickle Cell Disease: Taking Charge of Your Health and Health Care
- Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Hershberger Ray E et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jun - Genetic Therapies for Sickle Cell Disease.
Jayavaradhan Rajeswari et al. Pediatric clinics of North America 2018 Jun 65(3) 465-480 - Sickle Cell Disease
CDC Videos - Multi-ethnic genome-wide association study for atrial fibrillation.
Roselli Carolina et al. Nature genetics 2018 Jun - The Influence of Adolescence on Parents' Perspectives of Testing and Discussing Inherited Cancer Predisposition.
Schultz Corinna L et al. Journal of genetic counseling 2018 Jun - Community Counts
Explore health issues, medical complications, and causes of death that affect people with bleeding disorders who receive care at U.S. Hemophilia Treatment Centers - Importance of Variant Interpretation in Whole-Exome Molecular Autopsy: Population-Based Case Series.
Shanks Garrett W et al. Circulation 2018 Jun 137(25) 2705-2715 - Sickle Cell Anemia and Its Phenotypes.
Williams Thomas N et al. Annual review of genomics and human genetics 2018 Apr
Newborn Screening
- The first pilot study of expanded newborn screening for inborn errors of metabolism and survey of related knowledge and opinions of health care professionals in Hong Kong.
Mak C M et al. Hong Kong medical journal = Xianggang yi xue za zhi 2018 Jun
Pharmacogenomics
- Exploring the Potential of Direct-To-Consumer Genomic Test Data for Predicting Adverse Drug Events.
Zhang Patrick M et al. AMIA Joint Summits on Translational Science proceedings. AMIA Joint Summits on Translational Science 2018 2017247-256 - Pharmacogenomic Approaches for Automated Medication Risk Assessment in People with Polypharmacy.
Liu Jiazhen et al. AMIA Joint Summits on Translational Science proceedings. AMIA Joint Summits on Translational Science 2018 2017142-151 - Clinical application of antidepressant pharmacogenetics: Considerations for the design of future studies.
Fabbri Chiara et al. Neuroscience letters 2018 Jun - Evaluation of buccal swabs for pharmacogenetics.
Ang J Sidney et al. BMC research notes 2018 Jun 11(1) 382 - Pharmacogenetics of Clopidogrel Therapy and Neurointerventional Procedures: We Need Precision Data for Precision Medicine.
Rakicevic Ljiljana et al. Clinical pharmacology and therapeutics 2018 Jun - Standardization can accelerate the adoption of pharmacogenomics: current status and the path forward.
Caudle Kelly E et al. Pharmacogenomics 2018 Jun - From genes to treatments: a systematic review of the pharmacogenetics in smoking cessation.
Salloum Naji C et al. Pharmacogenomics 2018 Jun - Tumor molecular profiling of responders and non-responders following pembrolizumab monotherapy in chemotherapy resistant advanced cervical cancer.
Ngoi N Y L et al. Gynecologic oncology reports 2018 May 241-5 - Implication of critical pharmacokinetic gene variants on therapeutic response to metformin in Type 2 diabetes.
Phani Nagaraja M et al. Pharmacogenomics 2018 Jun
Reproductive Health
- Molecular prenatal diagnosis of alpha and beta thalassemia in pregnant Hakka women in southern China.
Zhao Pingsen et al. Journal of clinical laboratory analysis 2018 Mar 32(3) - Disability Experiences and Perspectives Regarding Reproductive Decisions, Parenting, and the Utility of Genetic Services: a Qualitative Study.
Roadhouse C et al. Journal of genetic counseling 2018 Jun - Response: scoring of mosaic embryos after preimplantation genetic testing - the rollercoaster ride between fear, hope and embryo wastage.
Grati Francesca Romana et al. Reproductive biomedicine online 2018 37(1) 122 - MeDIP combined with in-solution targeted enrichment followed by NGS: Inter-individual methylation variability of fetal-specific biomarkers and their implementation in a proof of concept study for NIPT.
Keravnou Anna et al. PloS one 2018 13(6) e0199010 - Pregnancy outcomes from more than 1,800 in vitro fertilization cycles with the use of 24-chromosome single-nucleotide polymorphism-based preimplantation genetic testing for aneuploidy.
Simon Alexander L et al. Fertility and sterility 2018 Jun - Prenatal diagnosis of skeletal dysplasias using a targeted skeletal gene panel.
Zhou Xinyao et al. Prenatal diagnosis 2018 Jun - Profile of Roche's Ariosa Harmony prenatal test.
Bevilacqua Elisa et al. Expert review of molecular diagnostics 2018 Jun - Pregnant women's views on how to promote the use of a decision aid for Down syndrome prenatal screening: a theory-informed qualitative study.
Agbadjé Titilayo Tatiana et al. BMC health services research 2018 Jun 18(1) 434
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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