Publication Date: Feb 15, 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
- Novo Mutations Can be Important in Autism
Front Line Genomics, Feb 12, 2018
- Duchenne Muscular Dystrophy Care Considerations
CDC Information, Feb 2018
- Rady Children's Institute sets Guinness world record
A pediatric genetics nonprofit in San Diego recently proved it could sequence a whole genome in a world record time of 19.5 hours. P Sisson, San Diego Herald, Feb 2018
- Advances in the Diagnosis and Management of Cystic Fibrosis in the Genomic Era.
Wiencek Joesph R et al. Clinical chemistry 2018 Feb
- NIH releases first dataset from unprecedented study of adolescent brain development
NIH, Feb 13, 2018
- World Rare Disease Day: February 28, 2018
Global Genes, Feb 2018
- Research matters: How a brother with Down syndrome inspired a PhD in tuberculosis and an ardor for science communication
Wright Meredith et al. PLoS pathogens 2018 Feb 14(2) e1006816
- Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders.
Haskell Gloria T et al. Neurology. Genetics 2018 Feb 4(1) e212
- Klinefelter syndrome - integrating genetics, neuropsychology and endocrinology.
Gravholt Claus H et al. Endocrine reviews 2018 Feb
- Diagnosis and management of Duchenne muscular dystrophy, part 3: primary care, emergency management, psychosocial care, and transitions of care across the lifespan.
Birnkrant David J et al. The Lancet. Neurology 2018 Feb
- Use of the Wilmington Robotic Exoskeleton to Improve Upper Extremity Function in Patients With Duchenne Muscular Dystrophy.
Estilow Timothy et al. The American journal of occupational therapy : official publication of the American Occupational Therapy Association 72(2) 7202345010p1-7202345010p5
- Precision Medicine: Hope or Hype?
M Barbor, ASCO Post, Feb 10, 2018
- Screening for Ovarian Cancer US Preventive Services Task Force Recommendation Statement
- PRECISION ONCOLOGY DECISION SUPPORT: CURRENT APPROACHES AND STRATEGIES FOR THE FUTURE.
Kurnit Katherine C et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2018 Feb
- Telomere length and genetics are independent colorectal tumour risk factors in an evaluation of biomarkers in normal bowel.
Fernandez-Rozadilla Ceres et al. British journal of cancer 2018 Feb
- Identification of a Good-Prognosis IDH-Mutant-Like Population of Patients with Diffuse Gliomas.
Wang Z et al. Current molecular medicine 2018 Feb
- Leveraging Genomics for Head and Neck Cancer Treatment.
Kemmer J D et al. Journal of dental research 2018 Feb 22034518756352
- Genotyping and mRNA profiling reveal actionable molecular targets in biliary tract cancers.
Papadopoulou Kyriaki et al. American journal of cancer research 2018 8(1) 2-15
- FDA Approval Summary: Dabrafenib and Trametinib for the Treatment of Metastatic Non-Small Cell Lung Cancers Harboring BRAF V600E Mutations.
Odogwu Lauretta et al. The oncologist 2018 Feb
- A Two-Phase Approach to Developing SNAP: an iPhone Application to Support Appointment Scheduling and Management for Women with a BRCA Mutation.
Scherr Courtney Lynam et al. Journal of genetic counseling 2018 Feb
- Genetic Testing and Early Onset Colon Cancer.
Chung Daniel C et al. Gastroenterology 2018 Feb
- The Yet Unrealized Promise of Ovarian Cancer Screening
CW Drescher et al, JAMA Oncology, Feb 13, 2018
- Screening for Ovarian Cancer: US Preventive Services Task Force Recommendation Statement
USPSTF, JAMA, Feb 13, 2018
- Association Between Circulating Tumor DNA and Pseudoprogression in Patients With Metastatic Melanoma Treated With Anti-Programmed Cell Death 1 Antibodies.
Lee Jenny H et al. JAMA oncology 2018 Feb e175332
- Utilization of genomic testing in advanced non-small cell lung cancer among oncologists in the Veterans Health Administration.
Arney Jennifer et al. Lung cancer (Amsterdam, Netherlands) 2018 Feb 11625-29
- Harnessing genomics to improve outcomes for women with cancer in India: key priorities for research.
Sundar Sudha et al. The Lancet. Oncology 2018 Feb 19(2) e102-e112
- Whole Genome Sequencing-Based Discovery of Structural Variants in Glioblastoma.
Wrzeszczynski Kazimierz O et al. Methods in molecular biology (Clifton, N.J.) 2018 17411-29
- Targeted deep sequencing of circulating tumor DNA in metastatic pancreatic cancer.
Berger Andreas W et al. Oncotarget 2018 Jan 9(2) 2076-2085
- A miRNA-based classification of renal cell carcinoma subtypes by PCR and in situ hybridization.
Meo Ashley Di et al. Oncotarget 2018 Jan 9(2) 2092-2104
- Comment from the Editor to the Special Issue: "Big Data and Precision Medicine Series I: Lung Cancer Early Diagnosis".
Gasparri Roberto et al. Journal of clinical medicine 2018 Feb 7(2)
- Recontacting Patients with Updated Genetic Testing Recommendations for Medullary Thyroid Carcinoma and Pheochromocytoma or Paraganglioma.
Romero Arenas Minerva A et al. Annals of surgical oncology 2018 Feb
- The new NICE guideline for Lynch syndrome testing explained
Cancer UK, 2018
- Screening for Ovarian Cancer in Asymptomatic Women
KH Lu, JAMA, Feb 113, 2018
- The Lloyd family: Three sisters, Mary, Sandra and Kerry Lloyd all developed breast cancer within 15 months of each other
Genomics England, 2018
- Planning a Genomic Characterization Study? Tips for Collecting and Processing Biospecimens
NCI, Jan 2018
- Adopting clinical genomics: a systematic review of genomic literacy among physicians in cancer care.
Ha Vu T Dung et al. BMC medical genomics 2018 Feb 11(1) 18
- KRAS Targeted Cancer Strategy Shows Early Promise
NIH Director Blog, Feb 13, 2018
- A Personal Attack: New genetic findings in prostate cancer are opening up more precise therapies for men with advanced metastatic disease.
J Erdmann, Genome Magazine, Jan 2018
- Male BRCA mutation carriers: clinical characteristics and cancer spectrum.
Ibrahim Mohammed et al. BMC cancer 2018 Feb 18(1) 179
- A retrospective review of 48 individuals, including 12 families, molecularly diagnosed with hereditary leiomyomatosis and renal cell cancer (HLRCC).
Bhola Priya T et al. Familial cancer 2018 Feb
- Genetic risk of APOL1 and kidney disease in children and young adults of African ancestry.
Reidy Kimberly J et al. Current opinion in pediatrics 2018 Feb
- Precision Nutrition and Type 2 Diabetes Management: Is It Ready for Prime Time?
Harvard School of Public Health, Feb 2018
- Genome-Wide Analysis Studies and Chronic Kidney Disease.
Piras Doloretta et al. Kidney diseases (Basel, Switzerland) 2017 Dec 3(3) 106-110
- How Do Patients Respond to Genetic Testing for Age-related Macular Degeneration?
McCarty Catherine A et al. Optometry and vision science : official publication of the American Academy of Optometry 2018 Feb
Ethical, Legal and Social Issues (ELSI)
- Seen At 11: Genetic Testing Results Could Prevent Users From Getting Insurance,
CBS New York, February 7, 2018
- Communicating Identifiability Risks to Biobank Donors.
Kasperbauer T J et al. Cambridge quarterly of healthcare ethics : CQ : the international journal of healthcare ethics committees 2018 Jan 27(1) 123-136
- Identification and genomic data
A Hall, PHG Foundation, Feb 2018
- Privacy Challenges of Genomic Big Data.
Shen Hong et al. Advances in experimental medicine and biology 2017 1028139-148
- Laying the Groundwork for Real-World Genomic Data Sharing by 2020
Frontline Genomics, Feb 9, 2018
- Application of the GRADE Approach in the Development of Guidelines and Recommendations in Genomic Medicine.
Rafiq Muhammad et al. Genomics insights 2018 111178631017753360
- Why precision medicine is not the best route to a healthier world.
Rey-López Juan Pablo et al. Revista de saude publica 2018 Feb 5212
- Characteristics of genetic diseases in consanguineous populations in the genomic era: lessons from Arab communities in North Israel.
Shalev S A et al. Clinical genetics 2018 Feb
- [Discussion on the standard of clinical genetic testing report and the consensus of gene testing industry].
Huang Hui et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2018 Feb 35(1) 1-8
- I took three DNA genetic tests for diet and fitness and got three VERY different results
V Chalmers, Healthista, Feb 6, 2018
- Attitudes towards Personal Genomics and Sharing of Genetic Data among Older Swiss Adults: A Qualitative Study.
Mählmann Laura et al. Public health genomics 2018 Feb
- "Bridge to the Literature"? Third-Party Genetic Interpretation Tools and the Views of Tool Developers.
Nelson Sarah C et al. Journal of genetic counseling 2018 Feb
- Population Testing for High Penetrance Genes: Are We There Yet?
Wentzensen Nicolas et al. Journal of the National Cancer Institute 2018 Feb
- Consanguineous marriages in the genetic counseling centers of Isfahan and the ethical issues of clinical consultations.
Nouri Narges et al. Journal of medical ethics and history of medicine 2017 1012
- Day in the life: trainee genetic counsellor
Genomics Education UK, Feb 12, 2018
- Points to consider for sharing variant-level information from clinical genetic testing with ClinVar.
Azzariti Danielle R et al. Cold Spring Harbor molecular case studies 2018 Feb 4(1)
- Genetic testing is about to redraw a lot of family trees,
by Linda Rodriguez McRobbie, Boston Globe, February 11, 2018
- Reduction of Health Care Costs and Improved Appropriateness of Incoming Test Orders: the Impact of Genetic Counselor Review in an Academic Genetic Testing Laboratory.
Wakefield Emily et al. Journal of genetic counseling 2018 Feb
- How is genetic testing evaluated? A systematic review of the literature.
Pitini Erica et al. European journal of human genetics : EJHG 2018 Feb
- Developing a 2020 vision for genomics: NHGRI launches new round of strategic planning
NHGRI< Feb 12, 2018
- 2017 was the year consumer DNA testing blew up
A Regalado, Tech Rev, Feb 2018
- Modernizing Centers for Disease Control and Prevention Informatics Using Surveillance Data Platform Shared Services.
Lee Brian et al. Public health reports (Washington, D.C. : 1974) 2018 Jan 33354917751130
- Electronic health record problem lists: accurate enough for risk adjustment?
Daskivich Timothy J et al. The American journal of managed care 2018 Jan 24(1) e24-e29
- The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants.
Reuter Miriam S et al. CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne 2018 Feb 190(5) E126-E136
- Real Stories: The Power of Personal Stories for Communicating Genomic Information
- Annual review 2017
PHG Foundation, Jan 2018
- Informatics and Machine Learning to Define the Phenotype.
Basile Anna Okula et al. Expert review of molecular diagnostics 2018 Feb
Heart, Lung, Blood and Sleep Diseases
- Million Hearts® 2022: A Compelling Call to Action
CDC Grand Rounds, Feb 22, 2018
- 'I am CardioSmart' Contest Honors Orange County Heart Attack Survivor
Am College Cardiology, Feb 8, 2018
- Advances in the diagnosis and treatment of Von Willebrand disease.
Sharma Ruchika et al. Blood 2017 130(22) 2386-2391
- Factor VIII Inhibitors: Generating a National Blueprint for Future Research
NHLBI Conference, May 15-18, 2018
- Signs and symptoms of a bleeding disorder
- Taking personalized medicine to heart.
et al. Nature medicine 2018 Feb 24(2) 113
- Guidance for Pediatric Familial Hypercholesterolemia 2017.
Harada-Shiba Mariko et al. Journal of atherosclerosis and thrombosis 2018 Feb
- Best Practices for Cardiovascular Disease Prevention Programs
- Genetic Predisposition to High Blood Pressure and Lifestyle Factors: Associations with Midlife Blood Pressure Levels and Cardiovascular Events.
Pazoki Raha et al. Circulation 2017 Dec
- Advances in the diagnosis and treatment of Von Willebrand disease.
Sharma Ruchika et al. Hematology. American Society of Hematology. Education Program 2017 Dec 2017(1) 379-384
- Next generation sequencing applications for cardiovascular disease.
Kalayinia Samira et al. Annals of medicine 2018 Mar 50(2) 91-109
- Hemophilia Gene Therapies Show Promise
J Abbasi, JAMA, Feb 13, 2018
- Fact Sheets: Sickle Cell Disease (SCD)
- Facts about Congenital Heart Defects
The causes of most cases are unknown but some are caused by genetic diseases and gene-environment interactions
- Gene therapies for hemophilia hit the mark in clinical trials.
Pickar Adrian K et al. Nature medicine 2018 Feb 24(2) 121-122
- Genetic Origins of Tetralogy of Fallot.
Morgenthau Ari et al. Cardiology in review 26(2) 86-92
- Genetic Programming of Hypertension.
Ahn Sun-Young et al. Frontiers in pediatrics 2017 5285
- Polygenic Contribution in Individuals With Early-Onset Coronary Artery Disease
Thériault, S, et al. Circ Genom Precis Med. 2018;11:e001849
- Find FH Patients in your practice
Machine learning tool from the FH Foundation
- Genetic cardiovascular disease: Is your family at risk?
S Buckles, Mayo clinic, Feb 13, 2018
- Screening for rare genetic variants associated with atherosclerosis: opportunity for personalized medicine.
Peterlin Ana et al. Current vascular pharmacology 2018 Feb
- Evaluation of prescriber responses to pharmacogenomics clinical decision support for thiopurine S-methyltransferase testing.
Ubanyionwu Samuel et al. American journal of health-system pharmacy : AJHP : official journal of the American Society of Health-System Pharmacists 2018 Feb 75(4) 191-198
- Education and Knowledge in Pharmacogenomics: Still a Challenge?
Giri Jyothsna et al. Clinical pharmacology and therapeutics 2018 Feb
- Impact of SLC22A1 and CYP3A5 genotypes on imatinib response in chronic myeloid leukemia: a systematic review and meta-analysis.
Cargnin Sarah et al. Pharmacological research 2018 Feb
- Depression and Pharmacogenetics.
Ampong David Nana et al. Archives of psychiatric nursing 2018 Feb 32(1) 71-74
- [Data analysis of non-invasive prenatal testing based on special loci in cell-free fetal DNA].
Xuan Liming et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2018 Feb 35(1) 56-59
- Time Costs for Genetic Counseling in Preconception Carrier Screening with Genome Sequencing.
Lynch Frances L et al. Journal of genetic counseling 2018 Feb
- High-throughput, non-invasive prenatal testing for fetal RHD genotype to guide antenatal prophylaxis with anti-D immunoglobulin: a cost-effectiveness analysis.
Saramago Pedro et al. BJOG : an international journal of obstetrics and gynaecology 2018 Feb
- THE PRICE OF ABANDONING DIAGNOSTIC TESTING FOR CELL FREE FETAL DNA SCREENING.
Evans Mark I et al. Prenatal diagnosis 2018 Feb
- Offering pregnant women different levels of genetic information from prenatal chromosome microarray: a prospective study.
Halliday Jane L et al. European journal of human genetics : EJHG 2018 Feb
- Reproductive decision making: interviews with mothers of children with undiagnosed developmental delay.
Pond Emily et al. Journal of community genetics 2018 Feb
- Importance of complete phenotyping in prenatal whole exome sequencing.
Aarabi Mahmoud et al. Human genetics 2018 Feb
- Attitudes of sperm, egg and embryo donors and recipients towards genetic information and screening of donors.
Amor David J et al. Reproductive health 2018 Feb 15(1) 26
- Perceived Changes to Obstetric Care and the Integration of Personal and Professional Life as a Pregnant Prenatal Genetic Counselor.
Rietzler Jennifer L et al. Journal of genetic counseling 2018 Feb
- Genetic Counseling Overview for the Obstetrician-Gynecologist.
Hoskovec Jennifer M et al. Obstetrics and gynecology clinics of North America 2018 Mar 45(1) 1-12
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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