Publication Date: Jan 18, 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
- A New Approach to Rare Diseases of Children: The Undiagnosed Diseases Network.
Reuter Chloe M et al. The Journal of pediatrics 2018 Jan - Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders.
Wright Caroline F et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jan - The impact of prenatal insults on the human placental epigenome: A systematic review.
Palma-Gudiel Helena et al. Neurotoxicology and teratology 2018 Jan - Spontaneous Preterm Birth: Advances Toward the Discovery of Genetic Predisposition.
Strauss Jerome F et al. American journal of obstetrics and gynecology 2017 Dec - Revisiting sweat chloride test results based on recent guidelines for diagnosis of cystic fibrosis.
Pagaduan Jayson V et al. Practical laboratory medicine 2018 Mar 1034-37
Cancer
- Evaluation of universal immunohistochemical screening of sebaceous neoplasms in a service setting.
Schon K et al. Clinical and experimental dermatology 2018 Jan - A five-gene signature may predict sunitinib sensitivity and serve as prognostic biomarkers for renal cell carcinoma.
Chen Yuan-Lei et al. Journal of cellular physiology 2018 Jan - The evidence for expanded genetic testing for pediatric patients with cancer.
Maese Luke et al. Future oncology (London, England) 2018 Jan - Applying Precision Medicine to Ovarian Cancer: Proof-of-Principle for a "Molecular Second Look".
Schwartz Melissa et al. International journal of gynecological cancer : official journal of the International Gynecological Cancer Society 2018 Jan - The differential diagnosis of a TP53 genetic testing result.
MacFarland Suzanne P et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jan - Cost-effectiveness and comparative effectiveness of cancer risk management strategies in BRCA1/2 mutation carriers: a systematic review.
Petelin Lara et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jan - Identification and validation of an 18-gene signature highly-predictive of bladder cancer metastasis.
Wang Beihe et al. Scientific reports 2018 Jan 8(1) 374 - Cancer transcriptome profiling at the juncture of clinical translation.
Cieslik Marcin et al. Nature reviews. Genetics 2017 Dec - Precision oncology in the age of integrative genomics.
Kumar-Sinha Chandan et al. Nature biotechnology 2018 Jan 36(1) 46-60 - Polygenic hazard score to guide screening for aggressive prostate cancer: development and validation in large scale cohorts.
Seibert Tyler M et al. BMJ (Clinical research ed.) 2018 Jan 360j5757 - Inherited Cancer in the Age of Next-Generation Sequencing.
Price Kristin S et al. Biological research for nursing 2018 Jan 1099800417750746 - Breast cancer in young women: do BRCA1 or BRCA2 mutations matter?
PA Fasching, Lancet Oncology, Jan 11, 2018 - Young women with BRCA mutation can safely postpone radical surgery.
Wise Jacqui et al. BMJ (Clinical research ed.) 2018 Jan 360k180 - Biobanks and Comprehensive Cancer Center Finland (FICAN) as institutions enabling clinical drug testing.
Carpén Olli et al. Duodecim; laaketieteellinen aikakauskirja 133(6) 592-8 - Impact of Genetic Ancestry on Outcomes in ECOG-ACRIN-E5103.
Schneider Bryan P et al. JCO precision oncology 2017 2017 - Breast Cancer Screening Behaviors of First Degree Relatives of Women Receiving Breast Cancer Treatment and the Affecting Factors.
Kirca Nurcan et al. European journal of breast health 2018 Jan 14(1) 23-28 - Epigenetics: How It Works And What It Means for Cancer Research
Dana Farber Cancer Institute Blog, Jan 10, 2018 - Tumour profiling tests to guide adjuvant chemotherapy decisions in people with breast cancer (update of DG10)
National Institute for Health and Care Excellence, United Kingdom, Jan 2018 - Evaluation of Prognosis in Hormone Receptor-Positive/HER2-Negative and Lymph Node-Negative Breast Cancer With Low Oncotype DX Recurrence Score.
Meisel Jane et al. Clinical breast cancer 2017 Dec - First treatment approved for breast cancer with BRCA genetic mutation
L McGinley, Washington Post, Jan 12, 2018 - For Now, Sequencing Cancer Tumors Holds More Promise Than Proof,
Richard Harris, NPR, January 15, 2018 - All women over 30 should be tested for faulty cancer gene, researchers say
L Shaddick, Sky News, Jan 18, 2018 - Prospective blinded surveillance screening of Swedish women with increased hereditary risk of breast cancer.
Liljegren Annelie et al. Breast cancer research and treatment 2018 Jan - TP53 Germline Variations Influence the Predisposition and Prognosis of B-Cell Acute Lymphoblastic Leukemia in Children.
Qian Maoxiang et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2018 Jan JCO2017755215 - RAS testing for colorectal cancer patients is reliable in European laboratories that pass external quality assessment.
Tack V et al. Virchows Archiv : an international journal of pathology 2018 Jan - Does Dietary Fat Combined With Genetic Factors Cause Prostate Cancer to Spread?
Frontline Genetics, Jan 17, 2018 - Liquid Biopsy Test Shows Promise for Detecting Early-Stage Colorectal Cancer
ASCO, Jan 16, 2018
Chronic Disease
- From genetics and epigenetics to the future of precision treatment for obesity.
Sun Xulong et al. Gastroenterology report 2017 Nov 5(4) 266-270 - Gene-nutrient interactions and susceptibility to human obesity.
Castillo Joseph J et al. Genes & nutrition 2017 1229 - Huntington disease.
Ghosh Rhia et al. Handbook of clinical neurology 2018 147255-278 - Early-life adversity and long-term neurobehavioral outcomes: epigenome as a bridge?
Vaiserman Alexander M et al. Human genomics 2017 Dec 11(1) 34 - Genetics of Parkinson disease.
Domingo Aloysius et al. Handbook of clinical neurology 2018 147211-227 - Precision Medicine in Obesity and Type 2 Diabetes: The Relevance of Early-Life Exposures.
Estampador Angela C et al. Clinical chemistry 2018 Jan 64(1) 130-141 - On the origin of obesity: identifying the biological, environmental and cultural drivers of genetic risk among human populations.
Qasim A et al. Obesity reviews : an official journal of the International Association for the Study of Obesity 2018 Feb 19(2) 121-149 - Epigenetics applied to psychiatry: clinical opportunities and future challenges.
Kular Lara et al. Psychiatry and clinical neurosciences 2018 Jan - Unraveling the Biocircuitry of Obesity
Francis Collins, NIH Director Blog, Jan 17, 2018 - Reimagining Obesity in 2018- A JAMA Theme Issue on Obesity
EH Livingston, JAMA, Jan 16, 2018 - Toward Precision Approaches for the Prevention and Treatment of Obesity
SZ Yanovski et al, JAMA, Jan 16, 2018 - Manipulating the epigenome for the treatment of disorders with thrombotic complications.
Kwa Faith A A et al. Drug discovery today 2018 Jan
Ethical, Legal and Social Issues (ELSI)
- Perceptions of legislation relating to the sharing of genomic biobank results with donors-a survey of BBMRI-ERIC biobanks.
Brunfeldt Minna et al. European journal of human genetics : EJHG 2018 Jan - Human germline gene editing: Recommendations of ESHG and ESHRE.
de Wert Guido et al. European journal of human genetics : EJHG 2018 Jan - Professional responsibilities regarding the provision, publication, and dissemination of patient phenotypes in the context of clinical genetic and genomic testing: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG).
Bush Lynn W et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jan - Conflict of interest related to clinical practice is under-reported: the case of non-invasive prenatal testing.
Wolfberg Adam J et al. Prenatal diagnosis 2018 Jan - FDA approves olaparib for germline BRCA-mutated metastatic breast cancer
FDA, Jan 12, 2018 - Ethical issues in neurogenetics.
Uhlmann Wendy R et al. Handbook of clinical neurology 2018 14723-36 - Strengthen federal regulation of laboratory-developed and direct-to-consumer genetic testing.
Starkweather Angela R et al. Nursing outlook 2017 Nov - Should Australia Ban the Use of Genetic Test Results in Life Insurance?
Tiller Jane et al. Frontiers in public health 2017 5330 - Conflicts of interest in genetic counseling: addressing and delivering.
Iacoboni Daniela et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jan - FDA approves first treatment for breast cancer with a certain inherited genetic mutation,
FDA, January 12, 2018 - Sharing rare data for a common cause
MRC Blog, Jan 10, 2018
General Practice
- The international WAO/EAACI guideline for the management of hereditary angioedema - the 2017 revision and update.
Maurer Marcus et al. Allergy 2018 Jan - The 2018 national DNA day student contest features direct-to-consumer genetic testing
American Society for Human Genetics, Jan 2018 - Gene therapy comes of age.
Dunbar Cynthia E et al. Science (New York, N.Y.) 2018 Jan 359(6372) - Rare disease prevention and treatment: the need for a level playing field.
Hughes Dyfrig A et al. Pharmacogenomics 2018 Jan - Sporty With a Sweet Tooth?
Genome Web, January 16, 2018 - Precision medicine: does ethnicity information complement genotype-based prescribing decisions?
Shah Rashmi R et al. Therapeutic advances in drug safety 2018 Jan 9(1) 45-62 - Mitochondrial diseases.
Davis Ryan L et al. Handbook of clinical neurology 2018 147125-141 - Genetic Testing Reference Materials Coordination Program (GeT-RM)
GeT-RM coordinates a ommunity process to improve the availability of appropriate and characterized reference materials for: quality control (QC,) proficiency testing (PT), test development & validation and research - Finnish researchers to create DNA database of 500,000 people for disease studies
Yle news, January 17, 2018 - Will Your Baby Like Cilantro? These Genetic Tests Say They Can Tell
Wired, Jan 16, 2018 - Genomics in mainstream clinical pathways
PHG Foundation, Jan 9, 2018 - Genetic and genomic testing for neurologic disease in clinical practice.
Fogel Brent L et al. Handbook of clinical neurology 2018 14711-22 - Assessing the readiness of precision medicine interoperabilty: An exploratory study of the National Institutes of Health genetic testing registry.
Ronquillo Jay G et al. Journal of innovation in health informatics 2017 Nov 24(4) 918 - Genomic data into everyday work of a medical practitioner - digital tools for decision-making.
Jokiranta Sakari et al. Duodecim; laaketieteellinen aikakauskirja 133(8) 791-800 - Data systems, genomic data and expertise of doctors.
Snell Karoliina et al. Duodecim; laaketieteellinen aikakauskirja 133(8) 801-7 - Applications of genomic medicine in the treatment of diseases.
Porkka Kimmo et al. Duodecim; laaketieteellinen aikakauskirja 133(8) 782-90 - Have You Ever Googled a Patient or Been Friended by a Patient? Social Media Intersects the Practice of Genetic Counseling.
Omaggio NinaMarie F et al. Journal of genetic counseling 2018 Jan - Big data for clinical trials: a perfect blend
LG Hemkens et al, Genome Medicine Blog, Jqan 11, 2018 - Precision medicine for your practice: CME and CNE modules for clinical applications of genetic testing
Jackson Lab, 2018 - Further support for clinicians essential for success of genomic medicine, urge experts
PHG Foundation, Jan 10, 2018 - How doctors are providing smarter care with electronic health records
N Bai, UCSF, Jan 9, 2018
Heart, Lung, Blood and Sleep Diseases
- Safety of statin treatment in children with familial hypercholesterolemia: Filling the gaps.
Rocha Viviane Z et al. Journal of clinical lipidology 2017 Dec - What do polymorphisms tell us about the mechanisms of COPD?
Li Yan et al. Clinical science (London, England : 1979) 2017 Dec 131(24) 2847-2863 - Microbiome in chronic obstructive pulmonary disease.
Monsó Eduard et al. Annals of translational medicine 2017 Jun 5(12) 251 - Cost-effectiveness of evolocumab in treatment of heterozygous familial hypercholesterolaemia in Bulgaria: measuring health benefit by effectively treated patient-years.
Borissov Borislav et al. Journal of market access & health policy 2017 5(1) 1412753 - Hemophilia gene therapy comes of age.
George Lindsey A et al. Blood advances 2017 Dec 1(26) 2591-2599 - New study offers insights on genetic indicators of COPD risk
NHLBI, Jan 16, 2018
Pharmacogenomics
- Impact of CYP2C19 Genotype on Escitalopram Exposure and Therapeutic Failure: A Retrospective Study Based on 2,087 Patients.
Jukic Marin M et al. The American journal of psychiatry 2018 Jan appiajp201717050550 - Pharmacogenetics.
Bishop Jeffrey R et al. Handbook of clinical neurology 2018 14759-73 - Pharmacogenomic testing in child and adolescent psychiatry: An evidence-based review.
Wehry Anna M et al. Current problems in pediatric and adolescent health care 2018 Jan
Reproductive Health
- Preconception carrier screening for multiple disorders: evaluation of a screening offer in a Dutch founder population.
Mathijssen Inge B et al. European journal of human genetics : EJHG 2018 Jan - Introduction: Reproductive genetics: bringing clarity to a foreign language.
Gregg Anthony R et al. Fertility and sterility 2018 Jan
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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