Health Impact Weekly Scan
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.
Human Genomics across the Lifespan
Birth Defects and Child Health
- The Challenge of Analyzing the Results of Next-Generation Sequencing in Children.
Thiffault Isabelle et al. Pediatrics 2016 Jan 137 Suppl 1S3-7 - Whole-Genome Sequencing and Disability in the NICU: Exploring Practical and Ethical Challenges.
Deem Michael J et al. Pediatrics 2016 Jan 137 Suppl 1S47-55
Cancer
- Assessment of the prognostic and predictive utility of the Breast Cancer Index (BCI): an NCIC CTG MA.14 study.
Sgroi Dennis C et al. Breast cancer research : BCR 2016 18(1) 1 - Outcome of genetic evaluation of patients with kidney cancer referred for suspected hereditary cancer syndromes.
Stratton Kelly L et al. Urologic oncology 2015 Dec - Exploring genomic alteration in pediatric cancer using ProteinPaint.
Zhou Xin et al. Nature genetics 2015 Dec 48(1) 4-6 - Personalized Circulating Tumor DNA Biomarkers Dynamically Predict Treatment Response and Survival In Gynecologic Cancers.
Pereira Elena et al. PloS one 2015 10(12) e0145754 - Initial clinical validation of Health Heritage, a patient-facing tool for personal and family history collection and cancer risk assessment.
Baumgart Leigh A et al. Familial cancer 2015 Dec - Statewide Retrospective Review of Familial Pancreatic Cancer in Delaware, and Frequency of Genetic Mutations in Pancreatic Cancer Kindreds.
Catts Zohra Ali-Khan et al. Annals of surgical oncology 2016 Jan - Validation of a quantitative 12-multigene expression assay (Oncotype DX(®) Colon Cancer Assay) in Korean patients with stage II colon cancer: implication of ethnic differences contributing to differences in gene expression.
Jeong Duck Hyoun et al. OncoTargets and therapy 2015 83817-25 - Circulating tumor DNA as a non-invasive substitute to metastasis biopsy for tumor genotyping and personalized medicine in a prospective trial across all tumor types.
Lebofsky Ronald et al. Molecular oncology 2015 Apr 9(4) 783-90
Chronic Diseases
- KHA-CARI Autosomal Dominant Polycystic Kidney Disease Guideline: Genetic Testing for Diagnosis.
Tchan Michel et al. Seminars in nephrology 2015 Nov 35(6) 545-549.e2 - KHA-CARI Autosomal Dominant Polycystic Kidney Disease Guideline: Genetics and Genetic Counseling.
Patel Chirag et al. Seminars in nephrology 2015 Nov 35(6) 550-556.e1
Ethics, Policy and Law
- Changes to the Genetic Information Nondiscrimination Act Coming in 2016!
By Nicholas Beermann and Lisa McGlynn, JDSupra, December 31, 2015 - Genomic Databases and Biobanks in Israel.
Siegal Gil et al. The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics 2015 Dec 43(4) 766-75 - International Guidelines for Privacy in Genomic Biobanking (or the Unexpected Virtue of Pluralism).
Thorogood Adrian et al. The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics 2015 Dec 43(4) 690-702 - Automatic Placement of Genomic Research Results in Medical Records: Do Researchers Have a Duty? Should Participants Have a Choice?
Prince Anya E R et al. The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics 2015 Dec 43(4) 827-42 - Regulation of Biobanks in France.
Rial-Sebbag Emmanuelle et al. The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics 2015 Dec 43(4) 754-65 - Biobanking and Privacy Laws in Australia.
Chalmers Don et al. The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics 2015 Dec 43(4) 703-13 - Biobanking and Privacy Law in Brazil.
Dallari Sueli Gandolfi et al. The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics 2015 Dec 43(4) 714-25 - Potential Psychosocial Risks of Sequencing Newborns.
Frankel Leslie Ann et al. Pediatrics 2016 Jan 137 Suppl 1S24-9 - Genomic Databases and Biobanks in Denmark.
Hartlev Mette et al. The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics 2015 Dec 43(4) 743-53 - Whole-Genome Screening of Newborns? The Constitutional Boundaries of State Newborn Screening Programs.
King Jaime S et al. Pediatrics 2016 Jan 137 Suppl 1S8-S15 - Introduction to Bioethics Special Supplement V: Ethical Issues in Genomic Testing of Children.
Lantos John D et al. Pediatrics 2016 Jan 137 Suppl 1S1-2 - Spanish Regulation of Biobanks.
Nicolás Pilar et al. The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics 2015 Dec 43(4) 801-15 - Biobank/Genomic Research in Nigeria: Examining Relevant Privacy and Confidentiality Frameworks.
Nnamuchi Obiajulu et al. The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics 2015 Dec 43(4) 776-86
Genomics in Practice
- The IGNITE network: a model for genomic medicine implementation and research.
Weitzel Kristin Wiisanen et al. BMC medical genomics 2016 9(1) 1 - Advanced nursing practice and research contributions to precision medicine.
Williams Janet K et al. Nursing outlook 2015 Nov - Start the new year by creating a family medical history tree,
by Colleen Schrappen, St. Louis Post Dispatch, December 31, 2015 - Computational Pathology: A Path Ahead.
Louis David N et al. Archives of pathology & laboratory medicine 2016 Jan 140(1) 41-50 - Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders.
Cassis Linda et al. Orphanet journal of rare diseases 2015 10(1) 164 - Methods of genomic competency integration in practice.
Jenkins Jean et al. Journal of nursing scholarship : an official publication of Sigma Theta Tau International Honor Society of Nursing / Sigma Theta Tau 2015 May 47(3) 200-10
Cardiovascular Diseases
- Relation Between Family History of Premature Coronary Artery Disease and the Risk of Death in Patients With Coronary Artery Disease.
Abdi-Ali Ahmed et al. The American journal of cardiology 2015 Nov
Newborn Screening
- Psychosocial Factors Influencing Parental Interest in Genomic Sequencing of Newborns.
Waisbren Susan E et al. Pediatrics 2016 Jan 137 Suppl 1S30-5 - Parental Views on Expanded Newborn Screening Using Whole-Genome Sequencing.
Joseph Galen et al. Pediatrics 2016 Jan 137 Suppl 1S36-46 - Supporting Parental Decisions About Genomic Sequencing for Newborn Screening: The NC NEXUS Decision Aid.
Lewis Megan A et al. Pediatrics 2016 Jan 137 Suppl 1S16-23
Reproductive Health
- Current controversies in prenatal diagnosis 3: the ethical and counseling implications of new genomic technologies: all pregnant women should be offered prenatal diagnostic genome-wide testing for prenatally identified fetal congenital anomalies.
Wilson R Douglas et al. Prenatal diagnosis 2015 Jan 35(1) 19-22 - Expanded carrier screening: A review of early implementation and literature.
Lazarin Gabriel A et al. Seminars in perinatology 2015 Dec
Pharmacogenomics
- Bringing clinical pharmacogenomics information to pharmacists: A qualitative study of information needs and resource requirements.
Romagnoli Katrina M et al. International journal of medical informatics 2016 Feb 8654-61 - Clinical Value of CYP2C19 Genetic Testing for Guiding the Anti-platelet Therapy in a Chinese Population.
Shen De-Liang et al. Journal of cardiovascular pharmacology 2015 Nov - Prospective DPYD genotyping to reduce the risk of fluoropyrimidine-induced severe toxicity: Ready for prime time.
Lunenburg Carin A T C et al. European journal of cancer (Oxford, England : 1990) 2015 Dec 5440-48
News/Reviews/Commentaries
- China banks on gene power firms for ‘precision medicine’,
Asian Times, January 6, 2016 - Exercise helps fight effects of a common obesity gene,
by Samantha Craggs, CBC News, January 4, 2016 - 2015 Research Highlights — Clinical Breakthroughs,
NIH Research Matters, December 21, 2015 - Twin Study Sheds Light on Cancer—Genetics or environment: which more closely influences cancer?
Medpage Today, January 5, 2016 - Researchers develop powerful interactive tool to mine data from cancer genome,
Medical Xpress, December 29, 2015 - CRISPR's Most Exciting Uses Have Nothing to Do With Gene-Editing,
by Ed Yong, the Atlantic, January 5, 2016 - Precision Medicine, Stuck In Second Grade, Flunks Test Of Clinical Utility,
Cardio Brief, January 5, 2016 - You have a possibly faulty gene. Should your doctor tell you?
By Patrick Skerrett, STAT, January 5, 2016 - Twin study estimates familial risks of 23 different cancers,
Science Daily, January 5, 2016 - Just How Much Is Cancer Due to Your Genes?
By Maggie Fox, NBC News, January 5, 2016 - Best of 2015 on G2G: Policy & Advocacy,
Genes to Genome Blog, December 29, 2015 - Cancer: Year in Review 2015 with Anna Barker,
by Ayanna Monteverdi, Mendelspod, December 30, 2015 - Take It Personally - How decoding your genes might unlock the future of health care.
By Julie Dugdale, 5280 the Denver Magazine, January 2016 - The CRISPR Patent Interference Showdown Is On: How Did We Get Here and What Comes Next?
By Jacob S. Sherkow, Law and Biosciences Blog, Stanford University, December 29, 2015 - The Top Ten Stories in Genetics, 2015: A Bacterial Editing System Goes Viral,
by Laura Hercher, the DNA Exchange, December 30, 2015
CDC-Authored Genomics Publications
- HIV-1 Drug Resistance Mutations: Potential Applications for Point-of-Care Genotypic Resistance Testing.
Rhee Soo-Yon, Jordan Michael R, Raizes Elliot, Chua Arlene, Parkin Neil, Kantor Rami, Van Zyl Gert U, Mukui Irene, Hosseinipour Mina C, Frenkel Lisa M, Ndembi Nicaise, Hamers Raph L, Rinke de Wit Tobias F, Wallis Carole L, Gupta Ravindra K, Fokam Joseph, Zeh Clement, Schapiro Jonathan M, Carmona Sergio, Katzenstein David, Tang Michele, Aghokeng Avelin F, De Oliveira Tulio, Wensing Annemarie M J, Gallant Joel E, Wainberg Mark A, Richman Douglas D, Fitzgibbon Joseph E, Schito Marco, Bertagnolio Silvia, Yang Chunfu, Shafer Robert W PloS one 2015 0 0. (12) e0145772. - Estimation of Rickettsia rickettsii copy number in the blood of patients 1 with Rocky Mountain spotted fever suggests cyclic diurnal trends in bacteremia.
Cecilia Kato, Ida Chung, Christopher Paddock Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases 2015 12 0. . - Reproducible Research Practices and Transparency across the Biomedical Literature.
Iqbal Shareen A, Wallach Joshua D, Khoury Muin J, Schully Sheri D, Ioannidis John P A PLoS biology 2016 1 0. (1) e1002333. - Achievements, challenges and unmet needs for haemophilia patients with inhibitors: Report from a symposium in Paris, France on 20 November 2014.
Dargaud Y, Pavlova A, Lacroix-Desmazes S, Fischer K, Soucie M, Claeyssens S, Scott D W, d'Oiron R, Lavigne-Lissalde G, Kenet G, Escuriola Ettingshausen C, Borel-Derlon A, Lambert T, Pasta G, Négrier C Haemophilia : the official journal of the World Federation of Hemophilia 2016 1 0. 1-24.
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