Publication Date: Jan 4, 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
- Laboratory diagnosis of galactosemia: a technical standard and guideline of the American College of Medical Genetics and Genomics (ACMG).
Pasquali Marzia et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Oct - Genetic diagnosis of Down syndrome in an underserved community.
Sobering Andrew K et al. American journal of medical genetics. Part A 2017 Dec - Genetic testing including targeted gene panel in a diverse clinical population of children with autism spectrum disorder: Findings and implications.
Kalsner Louisa et al. Molecular genetics & genomic medicine 2017 Dec - Concordance between Lactose Quick Test, hydrogen-methane breath test and genotyping for the diagnosis of lactose malabsorption in children.
Rojo C et al. Neurogastroenterology and motility : the official journal of the European Gastrointestinal Motility Society 2017 Dec - Sequencing Genomes in the ICU Improves Outcomes
B Grant, the Scientist, 2017 - Delayed diagnosis of a patient with Usher syndrome 1C in a Louisiana Acadian family highlights the necessity of timely genetic testing for the diagnosis and management of congenital hearing loss.
Umrigar Ayesha et al. SAGE open medical case reports 2017 52050313X17745904 - Establishing a comprehensive genetic diagnosis strategy for hemophilia B and its application in Chinese population.
Lin X Y et al. International journal of laboratory hematology 2017 Dec - Diagnostic exome sequencing of syndromic epilepsy patients in clinical practice.
Tumiene B et al. Clinical genetics 2017 Dec - Lack of correlation between age at diagnosis and RB1 mutations for unilateral retinoblastoma: the importance of genetic testing.
Berry Jesse L et al. Ophthalmic genetics 2017 Dec 1-3 - Paediatricians' expectations and perspectives regarding genetic testing for children with developmental disorders.
Tremblay Isabelle et al. Acta paediatrica (Oslo, Norway : 1992) 2017 Dec - Prevent Birth Defects
- Rapid screening for lipid storage disorders using biochemical markers. Expert center data and review of the literature.
Voorink-Moret M et al. Molecular genetics and metabolism 2017 Dec - Exome sequencing helps diagnose infants in the ICU: Test results changed medical management for more than half of diagnosed babies.
et al. American journal of medical genetics. Part A 2018 Jan 176(1) 8-9 - A rational approach to the use of sophisticated genetic analyses of pediatric stone disease.
Langman Craig B et al. Kidney international 2018 Jan 93(1) 15-18 - Familial Screening for Left-Sided Congenital Heart Disease: What Is the Evidence? What Is the Cost?
Perry Daniel J et al. Diseases (Basel, Switzerland) 2017 Dec 5(4) - The Italian National Rare Diseases Registry: a model of comparison and integration with Hospital Discharge Data.
Kodra Yllka et al. Journal of public health (Oxford, England) 2017 Dec - Epidemiology of CF: How registries can be used to advance our understanding of the CF population.
Jackson Abaigeal D et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2017 Dec - Diagnostic exome sequencing in children: A survey of parental understanding, experience and psychological impact.
Wynn J et al. Clinical genetics 2017 Dec - Framework for assessing individuals with rare genetic disorders associated with profound intellectual and multiple disabilities (PIMD): the example of Phelan McDermid Syndrome.
Soorya Latha et al. The Clinical neuropsychologist 2017 Dec 1-30 - Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study.
Cohn Iris et al. NPJ genomic medicine 2017 219 - Health problems in females carriers of premutation in the FMR1 gene.
Lisik Malgorzata Zofia et al. Psychiatria polska 2017 Oct 51(5) 899-907
Cancer
- Genomic Profiling Tests Cleared by FDA Can Help Guide Cancer Treatment, Clinical Trial Enrollment
NCI, Dec 21, 2017 - ACOG Committee Opinion No. 727 Summary: Cascade Testing: Testing Women For Known Hereditary Genetic Mutations Associated With Cancer.
et al. Obstetrics and gynecology 2018 Jan 131(1) 194-195 - ACOG Committee Opinion No. 727: Cascade Testing: Testing Women for Known Hereditary Genetic Mutations Associated With Cancer.
et al. Obstetrics and gynecology 2018 Jan 131(1) e31-e34 - Twitter and Non-Elites: Interpreting Power Dynamics in the Life Story of the (#)BRCA Twitter Stream.
Vicari Stefania et al. Social media + society 2017 Sep 3(3) 2056305117733224 - Lifestyle Risk Prediction Model for Prostate Cancer in a Korean Population.
Kim Sung Han et al. Cancer research and treatment : official journal of Korean Cancer Association 2017 Dec - Short report: Follow-up of Bahamian women with a BRCA1 or BRCA2 mutation.
Narod Steven A et al. Molecular genetics & genomic medicine 2017 Dec - Bilingual Cancer Genetic Education Modules for the Deaf Community: Development and Evaluation of the Online Video Material.
Boudreault Patrick et al. Journal of genetic counseling 2017 Dec - Implementation of "Clinical Sequencing" in Cancer Genome Medicine in Japan.
Kohno Takashi et al. Cancer science 2017 Dec - Personal Cancer Genome Reporter: variant interpretation report for precision oncology.
Nakken Sigve et al. Bioinformatics (Oxford, England) 2017 Dec - Managing Variant Interpretation Discrepancies in Hereditary Cancer: Clinical Practice, Concerns, and Desired Resources.
Zirkelbach Ellen et al. Journal of genetic counseling 2017 Dec - The changing landscape of hereditary cancer genetic testing.
Webster Rachel D et al. Cancer 2017 Dec - Application of Next-Generation Sequencing (NGS) to improve cancer management: A review of the clinical effectiveness and cost-effectiveness.
Tan O et al. Clinical genetics 2017 Dec - The evidence framework for precision cancer medicine.
Moscow Jeffrey A et al. Nature reviews. Clinical oncology 2017 Dec - Breast Cancer Genetics Knowledge and Testing Intentions among Nigerian Professional Women.
Ngene Samuel O et al. Journal of genetic counseling 2017 Dec - Comprehensive Genomic Profiling of Malignant Effusions in Patients with Metastatic Lung Adenocarcinoma.
Yang Soo-Ryum et al. The Journal of molecular diagnostics : JMD 2017 Dec - The history and impact of molecular coding changes on coverage and reimbursement of molecular diagnostic tests: transition from stacking codes to the current molecular code set including genomic sequencing procedures.
Hsiao Susan J et al. The Journal of molecular diagnostics : JMD 2017 Dec - An E-Learning Module to Improve Nongenetic Health Professionals' Assessment of Colorectal Cancer Genetic Risk: Feasibility Study.
Douma Kirsten Freya Lea et al. JMIR medical education 2017 Dec 3(2) e24 - Genetic testing for indeterminate thyroid cytology: meta-analysis and review.
Vargas-Salas Sergio et al. Endocrine-related cancer 2017 Dec - Understanding preanalytical variables and their effects on clinical biomarkers of oncology and immunotherapy.
Agrawal Lokesh et al. Seminars in cancer biology 2017 Dec - Will oncotype DX DCIS testing guide therapy? A single-institution correlation of oncotype DX DCIS results with histopathologic findings and clinical management decisions.
Lin Chieh-Yu et al. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2017 Dec - Investigating barriers to genetic counseling and germline mutation testing in women with suspected hereditary breast and ovarian cancer syndrome and Lynch syndrome.
Shaw Josephine et al. Patient education and counseling 2017 Dec - Real-world economic value of a 21-gene assay in early-stage breast cancer.
Waintraub Stanley E et al. The American journal of managed care 2017 Dec 23(12) e416-e420 - Efficacy of EGFR tyrosine kinase inhibitors in non-small cell lung cancer patients harboring different types of EGFR mutations: A retrospective analysis.
Liu Hua-Li et al. Journal of Huazhong University of Science and Technology. Medical sciences = Hua zhong ke ji da xue xue bao. Yi xue Ying De wen ban = Huazhong keji daxue xuebao. Yixue Yingdewen ban 2017 Dec 37(6) 864-872 - Using family history forms in pediatric oncology to identify patients for genetic assessment.
Hamilton A et al. Current oncology (Toronto, Ont.) 2017 Dec 24(6) e441-e445 - No evidence of excessive cancer screening in female noncarriers from BRCA1/2 mutation-positive families.
Guedaoura S et al. Current oncology (Toronto, Ont.) 2017 Dec 24(6) 352-359 - Bronchial biopsy specimen as a surrogate for DNA methylation analysis in inoperable lung cancer.
Um Sang-Won et al. Clinical epigenetics 2017 9131 - Clinical Assessment and Diagnosis of Germline Predisposition to Hematopoietic Malignancies: The University of Chicago Experience.
Desai Ami V et al. Frontiers in pediatrics 2017 5252 - Integration of Next-Generation Sequencing to Treat Acute Lymphoblastic Leukemia with Targetable Lesions: The St. Jude Children's Research Hospital Approach.
Inaba Hiroto et al. Frontiers in pediatrics 2017 5258 - Development and clinical validation of a circulating tumor DNA test for the identification of clinically actionable mutations in non-small cell lung cancer.
Liu Liping et al. Genes, chromosomes & cancer 2017 Dec - Molecular testing for thyroid nodules: Review and current state.
Roth Mara Y et al. Cancer 2017 Dec - Evaluation of the relative effectiveness of the 2017 updated Manchester scoring system for predicting BRCA1/2 mutations in a Southeast Asian country.
Chew Winston et al. Journal of medical genetics 2017 Dec - Biomarkers in breast cancer: A consensus statement by the Spanish Society of Medical Oncology and the Spanish Society of Pathology.
Colomer R et al. Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico 2017 Dec - Anticipated health behaviour changes and perceived control in response to disclosure of genetic risk of breast and ovarian cancer: a quantitative survey study among women in the UK.
Meisel Susanne F et al. BMJ open 2017 Dec 7(12) e017675 - An initial health economic evaluation of pharmacogenomic testing in patients treated for childhood cancer with anthracyclines.
Dionne Francois et al. Pediatric blood & cancer 2017 Dec - Optimizing the identification of risk-relevant mutations by multigene panel testing in selected hereditary breast/ovarian cancer families.
Coppa Anna et al. Cancer medicine 2017 Dec - The Changing Landscape of Lynch Syndrome due to PMS2 Mutations.
Blount J et al. Clinical genetics 2017 Dec - Family history-taking practices and genetic confidence in primary and tertiary care providers for childhood cancer survivors.
Wakefield Claire E et al. Pediatric blood & cancer 2017 Dec - Genomics-Driven Precision Medicine for Advanced Pancreatic Cancer - Early Results from the COMPASS Trial.
Aung Kyaw Lwin et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2017 Dec - A patient decision aid for risk-reducing surgery in premenopausal BRCA1/2 mutation carriers: Development process and pilot testing.
Harmsen Marline G et al. Health expectations : an international journal of public participation in health care and health policy 2017 Dec - The Patient Perspective on Radiogenomics Testing for Breast Radiation Toxicity.
Rattay T et al. Clinical oncology (Royal College of Radiologists (Great Britain)) 2017 Dec - I Did Everything to Avoid Cancer…And It Still Got Me
CDC Blog, 2017 - Breast Cancer Survivorship: Pam’s Story
CDC Blog Post, 2016 - A possible role of FANCM mutations in male breast cancer susceptibility: Results from a multicenter study in Italy.
Silvestri Valentina et al. Breast (Edinburgh, Scotland) 2017 Dec 3892-97 - New Routine: Should all women be screened for BRCA?
S Collins, Genome Magazine, January 2018 - Cancer Drugs Approved Based on Biomarkers and Not Tumor Type—FDA Approval of Pembrolizumab for Mismatch Repair-Deficient Solid Cancers
V Prasad et al, JAMA Oncology, Dec 27, 2017 - "Take your time, then follow your heart:" Previvors' advice for communicating about family planning after testing positive for a BRCA genetic variant.
Rauscher Emily A et al. Families, systems & health : the journal of collaborative family healthcare 2017 Dec 35(4) 486-497 - Researchers in Two Separate Studies Discover Gut Microbiome Can Affect Efficacy of Certain Cancer Drugs; Will Findings Lead to a New Clinical Laboratory Test?
Dark Daily, Dec 29, 2017 - Uptake of risk-reducing surgery in BRCA gene carriers in Wales, UK.
Long Jennifer et al. The breast journal 2017 Dec - Comparing the diagnostic accuracy of five common tumour biomarkers and CA19-9 for pancreatic cancer: a protocol for a network meta-analysis of diagnostic test accuracy.
Ge Long et al. BMJ open 2017 Dec 7(12) e018175 - Cost effectiveness of population based BRCA1 founder mutation testing in Sephardi Jewish women.
Patel Shreeya et al. American journal of obstetrics and gynecology 2017 Dec - Targeted next generation sequencing in Chinese colorectal cancer patients guided anti-EGFR treatment and facilitated precision cancer medicine.
Hou Helei et al. Oncotarget 2017 Dec 8(62) 105072-105080 - The Dawning of Translational Breast Cancer: From Bench to Bedside.
Chen Xueman et al. Advances in experimental medicine and biology 2017 10261-25 - The Preventive Intervention of Hereditary Breast Cancer.
Cao Ayong et al. Advances in experimental medicine and biology 2017 102641-57 - Population-Based Genetic Testing for BRCA1 and BRCA2.
Narod Steven et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2018 Jan JCO2017758490 - New Genome Scores Predict Breast Cancer Odds for Any Woman
A Regalado, Tech Review, Dec 22, 2017 - The emerging significance of secondary germline testing in cancer genomics.
Mandelker Diana et al. The Journal of pathology 2018 Jan - Considerations About the Use of Biomarkers in Cancer Clinical Trials.
Chabner Bruce A et al. Clinical pharmacology and therapeutics 2018 Jan 103(1) 25-27 - Cost-effectiveness of lobectomy versus genetic testing (Afirma®) for indeterminate thyroid nodules: Considering the costs of surveillance.
Balentine Courtney J et al. Surgery 2018 Jan 163(1) 88-96 - Development and validation of a targeted next generation DNA sequencing panel outperforming whole exome sequencing for the identification of clinically relevant genetic variants.
Miller Eirwen M et al. Oncotarget 2017 Nov 8(60) 102033-102045 - Development of the CNS TAP tool for the selection of precision medicine therapies in neuro-oncology.
Linzey Joseph R et al. Journal of neuro-oncology 2017 Dec - Epidermal growth factor receptor mutation testing: From conventional to real-time diagnosis of lung cancer.
Raja T et al. Indian journal of cancer 2017 Dec 54(Supplement) S9-S14 - Characteristics of percutaneous core biopsies adequate for next generation genomic sequencing.
Sabir Sharjeel H et al. PloS one 2017 12(12) e0189651 - Signatures of DNA-Repair Deficiencies in Breast Cancer.
Turner Nicholas C et al. The New England journal of medicine 2017 377(25) 2490-2492 - Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants.
Buchanan Adam H et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Oct - A prognostic 4-gene expression signature for patients with HER2-negative breast cancer receiving taxane and anthracycline-based chemotherapy.
Cheng Pu et al. Oncotarget 2017 Nov 8(61) 103327-103339 - Lung cancer mutation testing: a clinical retesting study of agreement between a real-time PCR and a mass spectrometry test.
Shepherd Phillip et al. Oncotarget 2017 Nov 8(60) 101437-101451 - Non-BRCA1/2 Breast Cancer Susceptibility Genes: A New Frontier with Clinical Consequences for Plastic Surgeons.
Frey Jordan D et al. Plastic and reconstructive surgery. Global open 2017 Nov 5(11) e1564 - Protein biomarkers predictive for response to anti-EGFR treatment in RAS wild-type metastatic colorectal carcinoma.
Lièvre Astrid et al. British journal of cancer 2017 Dec 117(12) 1819-1827 - Feasibility of Endobronchial Ultrasound-guided Transbronchial Needle Aspiration Cytology Specimens for Next Generation Sequencing in Non-small-cell Lung Cancer.
Stoy Sean P et al. Clinical lung cancer 2017 Dec - Targeted bisulfite sequencing identified a panel of DNA methylation-based biomarkers for esophageal squamous cell carcinoma (ESCC).
Pu Weilin et al. Clinical epigenetics 2017 9129 - Detection of somatic variants and EGFR mutations in cell-free DNA from non-small cell lung cancer patients by ultra-deep sequencing using the ion ampliseq cancer hotspot panel and droplet digital polymerase chain reaction.
Sung Jae Sook et al. Oncotarget 2017 Dec 8(63) 106901-106912
Chronic Disease
- CDC Grand Rounds: National Amyotrophic Lateral Sclerosis (ALS) Registry Impact, Challenges, and Future Directions.
Mehta Paul et al. MMWR. Morbidity and mortality weekly report 2017 Dec 66(50) 1379-1382 - Malignant Hyperthermia in the Post-Genomics Era: New Perspectives on an Old Concept.
Riazi Sheila et al. Anesthesiology 2018 128(1) 168-180 - Wilson disease: At the crossroads between genetics and epigenetics-A review of the evidence.
Kieffer Dorothy A et al. Liver research 2017 Sep 1(2) 121-130 - Diabetes in China: Epidemiology and Genetic Risk Factors and Their Clinical Utility in Personalized Medication.
Hu Cheng et al. Diabetes 2018 Jan 67(1) 3-11 - The Effect of Predictive Testing in Adult-Onset Neurodegenerative Diseases on Social and Personal Life.
Cohn-Hokke Petra E et al. Journal of genetic counseling 2017 Dec - Patients with sporadic and familial amyotrophic lateral sclerosis found value in genetic testing.
Wagner Karin N et al. Molecular genetics & genomic medicine 2017 Dec - Cost-utility analysis of fracture risk assessment using microRNAs compared with standard tools and no monitoring in the Austrian female population.
Walter Evelyn et al. Bone 2017 Dec 10844-54 - The use of polygenic risk scores to identify phenotypes associated with genetic risk of schizophrenia: Systematic review.
Mistry Sumit et al. Schizophrenia research 2017 Nov - Evaluation of a genetic risk score based on creatinine-estimated glomerular filtration rate and its association with kidney outcomes.
Thio Chris H L et al. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2017 Dec
Ethical, Legal and Social Issues (ELSI)
- What Is Trust? Ethics and Risk Governance in Precision Medicine and Predictive Analytics.
Adjekum Afua et al. Omics : a journal of integrative biology 2017 Dec 21(12) 704-710 - Gene Editing in Humans: Towards a Global and Inclusive Debate for Responsible Research
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de Lecuona Itziar et al. The Yale journal of biology and medicine 2017 Dec 90(4) 673-681 -
An Appreciation of The Gene: An Intimate History by Siddhartha Mukherjee and a Call for Expanded Training in the Responsible Conduct of Research
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Morris Evan D et al. The Yale journal of biology and medicine 2017 Dec 90(4) 661-665 - Genetics in the 21st Century: Implications for patients, consumers and citizens.
Roberts Jonathan et al. F1000Research 2017 62020 - A community effort to protect genomic data sharing, collaboration and outsourcing.
Wang Shuang et al. NPJ genomic medicine 2017 233 - Do You Belong to You?
M Angrist, Genome Magazine, January 2017 - Autonomy, Well-Being, and the Value of Genetic Testing for Adopted Persons.
May Thomas et al. HEC forum : an interdisciplinary journal on hospitals' ethical and legal issues 2017 Dec - Gene therapy for inherited blindness sets precedent: $850,000 price tag
Washington Post, Jan 3, 2018 - When Personal Feels Invasive: Foreseeing Challenges in Precision Medicine Communication.
Ratcliff Chelsea L et al. Journal of health communication 2017 Dec 1-9 - Genetic Testing: Multiple Problems to Solve.
Ramos Erica et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2018 Jan JCO2017760942 - Guideline Recommendations for Preventive Healthcare Services: Understanding and Managing Conflict of Interest When Population Health Meets Personalized Medicine.
Greenfield Sheldon et al. American journal of preventive medicine 2018 Jan 54(1) 153-155 - Ethical Challenges in Biomarker-Driven Drug Development.
Hey Spencer Phillips et al. Clinical pharmacology and therapeutics 2018 Jan 103(1) 23-25 - Developing the science and methods of community engagement for genomic research and biobanking in Africa.
Tindana P et al. Global health, epidemiology and genomics 2017 2e13
General Practice
- Sifting Through Stories to Find What’s Right for Me
JL Haidle, NSGC Blog, Dec 2017 - Proposed guidelines to evaluate scientific validity and evidence for genotype-based dietary advice
KA Grimaldi et al, Genes and Nutrition, Dec 2017 - Taking and Drawing a Family History
Videos from Genomics Education UK - Ring in 2018 Smokefree
- "Not pathogenic until proven otherwise": perspectives of UK clinical genomics professionals toward secondary findings in context of a Genomic Medicine Multidisciplinary Team and the 100,000 Genomes Project.
Ormondroyd Elizabeth et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Oct - Precision Medicine: Functional Advancements.
Caskey Thomas et al. Annual review of medicine 2017 Dec - Clinical implications and considerations for evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines.
Bean Lora J H et al. Genome medicine 2017 Dec 9(1) 111 - Developing a 'personalome' for precision medicine: emerging methods that compute interpretable effect sizes from single-subject transcriptomes.
Vitali Francesca et al. Briefings in bioinformatics 2017 Dec - Will Gathering Vast Troves of Information Really Lead To Better Health?
All Things Considered, NPR, Dec 27,2017 - Crispr Isn’t Enough Any More. Get Ready for Gene Editing 2.0
M Molteni, Wired, Dec 26, 2017 - Working Group Outlines Possibilities for All of Us Research Program’s Genomics Plan
NIH, AllofUS research, December 2017 - Funding Opportunities
- Researchers Gather Health Data For 'All Of Us'
R Harris, NPR, Dec 1, 2017 - CRISPR, Patents, and the Public Health
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Sherkow Jacob S et al. The Yale journal of biology and medicine 2017 Dec 90(4) 667-672 - Happy birthday, Genetics in Medicine!
JE Evans, Genetics in Medicine, January 2018 - Application of active learning modalities to achieve medical genetics competencies and their learning outcome assessments.
Hagiwara Nobuko et al. Advances in medical education and practice 2017 8817-829 - Precision Military Medicine: Conducting a multi-site clinical utility study of genomic and lifestyle risk factors in the United States Air Force.
Delaney Susan K et al. NPJ genomic medicine 2017 22 - Preparing for genomic medicine: a real world demonstration of health system change.
Gaff Clara L et al. NPJ genomic medicine 2017 216 - Prioritising the application of genomic medicine.
Doble Brett et al. NPJ genomic medicine 2017 235 - Proposed guidelines to evaluate scientific validity and evidence for genotype-based dietary advice.
Grimaldi Keith A et al. Genes & nutrition 2017 1235 - CRISPR in 2018: Coming to a Human Near You
E Mullin, Tech Review, Dec 2017 - Infographic: Genetic testing and research.
Vlahovich Nicole et al. British journal of sports medicine 2017 Dec - Patient and provider perspectives on the development of personalized medicine: a mixed-methods approach.
Puryear Lauren et al. Journal of community genetics 2017 Dec - How much should we trust genetic ancestral tests?
J Morris, Biochemical Society, Jan 4, 2018 - Investigation of the Use of a Family Health History Application in Genetic Counseling.
Tipsword Meghan L et al. Journal of genetic counseling 2017 Dec - Precision Medical Treatments Have A Quality Control Problem
R Harris, Dec 29, 2017 - In a milestone year, gene therapy finds a place in medicine
M Marchione, Associated Press, Dec 28, 2017 - How Much More Research is Needed?
Frontline Genomics, Dec 2017 - Physicians' Awareness and Utilization of Genetic Services in Texas.
Diamonstein Callie et al. Journal of genetic counseling 2017 Dec - Heredity, Genetics and Orthodontics - How Much Has This Research Really Helped?
Hartsfield James K et al. Seminars in orthodontics 2017 Dec 23(4) 336-347 - The future of telomere length in personalized medicine.
Gorenjak Vesna et al. Frontiers in bioscience (Landmark edition) 2018 Mar 231628-1654 - A Modified CRISPR Tool Creates New Treatments for Diseases
K Kennedy, Genome Magazine, January 2017 - The who, what, and why of research participants' intentions to request a broad range of secondary findings in a diagnostic genomic sequencing study.
Rini Christine et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Oct - Clinical Informatics Researcher's Desiderata for the Data Content of the Next Generation Electronic Health Record.
Kennell Timothy I et al. Applied clinical informatics 2017 Oct 8(4) 1159-1172 - Putting the Patient Back Together - Social Medicine, Network Medicine, and the Limits of Reductionism.
Greene Jeremy A et al. The New England journal of medicine 2017 377(25) 2493-2499 - Individual Biomarkers Using Molecular Personalized Medicine Approaches.
Zenner Hans P et al. ORL; journal for oto-rhino-laryngology and its related specialties 2017 79(1-2) 7-13 - The role of epigenomics in personalized medicine.
Kronfol Mohamad M et al. Expert review of precision medicine and drug development 2017 2(1) 33-45
Heart, Lung, Blood and Sleep Diseases
- Gene Therapy for Severe Hemophilia A
Karen Sokal-Gutierrez, NEJM, Resident360, Dec 2017 - Repeat genetic testing with targeted capture sequencing in primary arrhythmia syndrome and cardiomyopathy.
Robyns Tomas et al. European journal of human genetics : EJHG 2017 Dec 25(12) 1313-1323 - Advances in predicting venous thromboembolism risk in children.
Rühle Frank et al. British journal of haematology 2017 Dec - Genetics of CVD in 2017: Expanding the spectrum of CVD genetics.
Schunkert Heribert et al. Nature reviews. Cardiology 2017 Dec - Precision medicine for cardiovascular disease : Learning lessons from cardiomyopathies.
Sedaghat-Hamedani F et al. Herz 2017 Dec - Application of "Omics" and Systems Biology to Sarcoidosis Research.
Crouser Elliott D et al. Annals of the American Thoracic Society 2017 Dec 14(Supplement_6) S445-S451 - How close are we to implementing a genetic risk score for coronary heart disease?
Beaney Katherine et al. Expert review of molecular diagnostics 2017 Oct 17(10) 905-915 - Executive Summary of the NHLBI Workshop Report: Leveraging Current Scientific Advancements to Understand Sarcoidosis Variability and Improve Outcomes.
Maier Lisa A et al. Annals of the American Thoracic Society 2017 Dec 14(Supplement_6) S415-S420 - Channelopathies as Causes of Sudden Cardiac Death.
Schwartz Peter J et al. Cardiac electrophysiology clinics 2017 Dec 9(4) 537-549 - The long-QT syndrome and exercise practice: The never-ending debate.
Mascia Giuseppe et al. Journal of cardiovascular electrophysiology 2018 Jan - Integrated genetic and epigenetic prediction of coronary heart disease in the Framingham Heart Study.
Dogan Meeshanthini V et al. PloS one 2018 13(1) e0190549 - Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: application of ACMG guidelines and implications for familial hypercholesterolemia diagnosis.
Chora Joana Rita et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Oct - An insight into familial hypercholesterolemia in Greece: rationale and design of the Hellenic Familial Hypercholesterolemia Registry (HELLAS-FH).
Rizos Christos V et al. Hormones (Athens, Greece) 2017 Jul 16(3) 200-204
Newborn Screening
- Non-invasive test using palmitate in patients with suspected fatty acid oxidation defects: disease-specific acylcarnitine patterns can help to establish the diagnosis.
Janzen Nils et al. Orphanet journal of rare diseases 2017 Dec 12(1) 187 - Variability in State-Based Recommendations for Management of Alpha Thalassemia Trait and Silent Carrier Detected on the Newborn Screen.
Fogel Benjamin N et al. The Journal of pediatrics 2017 Dec - Delay in State Adoption of Newborn Screening Tests.
Xu Ang et al. Pediatrics 2018 Jan 141(1) - Newborn screening for severe combined immunodeficiency: a primer for clinicians.
Biggs Catherine M et al. CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne 2017 Dec 189(50) E1551-E1557
Pharmacogenomics
- Preemptive pharmacogenetic testing: exploring the knowledge and perspectives of US payers.
Keeling Nicholas J et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Oct - Toward precision medicine in addiction treatment.
Volkow Nora et al. The American journal on addictions 2018 Jan 27(1) 35-36 - CYP2C19 genotype and adverse cardiovascular outcomes after stent implantation in clopidogrel-treated Asian populations: A systematic review and meta-analysis.
Xi Ziwei et al. Platelets 2017 Dec 1-12 - Pharmacogenetic effects of naltrexone in individuals of East Asian descent: Human laboratory findings from a randomized trial.
Ray Lara A et al. Alcoholism, clinical and experimental research 2017 Dec - Genes Targeted by Drugs: Distinct Human Mutations Can Alter the Effect
Frontline Genomics, Dec 2017 - Genetic variation in human drug-related genes
Charlotta Pauline Irmgard Schärfe, et al. Genome Medicine, Dec 2017 - Pharmacogenomics of CYP2C9: Functional and Clinical Considerations.
Daly Ann K et al. Journal of personalized medicine 2017 Dec 8(1) - Genetic testing to prevent adverse reactions to antiepileptic drugs: Primum non nocere.
Guerrini Renzo et al. Neurology 2017 Dec - Facilitators and Barriers to the Adoption of Pharmacogenetic Testing in an Inner City Population.
Lee Yee Ming et al. Pharmacotherapy 2017 Dec - Multi-site investigation of strategies for the implementation of CYP2C19 genotype-guided antiplatelet therapy.
Empey Philip E et al. Clinical pharmacology and therapeutics 2017 Dec - Variation in CYP2A6 Activity and Personalized Medicine.
Tanner Julie-Anne et al. Journal of personalized medicine 2017 Dec 7(4) - Pharmacogenomics Guided-Personalization of Warfarin and Tamoxifen.
Wigle Theodore J et al. Journal of personalized medicine 2017 Dec 7(4) - Ethiopian health care professionals' knowledge, attitude, and interests toward pharmacogenomics.
Abdela Ousman Abubeker et al. Pharmacogenomics and personalized medicine 2017 10279-285 - eGARD: Extracting associations between genomic anomalies and drug responses from text.
Mahmood A S M Ashique et al. PloS one 2017 12(12) e0189663
Reproductive Health
- Prevalence and Treatment Choices for Couples with Recurrent Pregnancy Loss Due to Structural Chromosomal Anomalies.
Maithripala Savanie et al. Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC 2017 Dec - Delivering an accredited non-invasive prenatal diagnosis service for monogenic disorders, and recommendations for best practice.
Jenkins Lucy A et al. Prenatal diagnosis 2017 Dec - Cost-effectiveness of cell-free DNA in maternal blood testing for prenatal detection of trisomy 21, 18 and 13: a systematic review.
García-Pérez Lidia et al. The European journal of health economics : HEPAC : health economics in prevention and care 2017 Dec - Patient actions and reactions after receiving negative results from expanded carrier screening.
Kraft S A et al. Clinical genetics 2018 Jan - Decisional conflict and regret: shared decision-making about pregnancy affected by ?-thalassemia major in Southeast of Iran.
Moudi Zahra et al. Journal of human genetics 2017 Dec - Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests.
Archibald Alison Dalton et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Oct
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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