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
- Lay Attitudes Toward Trust, Uncertainty, and the Return of Pediatric Research Results in Biobanking.
Lynch John et al. AJOB empirical bioethics 2016 7(3) 160-166 - Clinical utility gene card for: Cantú syndrome.
Kirk Edwin P et al. European journal of human genetics : EJHG 2017 Jan - $2.1 Trillion Spent on Personal Health Care. Where are the Rare Diseases?
J Radke, RareDR Report, January 3, 2016 - Post-mortem whole-exome analysis in a large sudden infant death syndrome cohort with a focus on cardiovascular and metabolic genetic diseases
J Neubauer et al, Eur J Human Genetics, January 11, 2017 - A Family's Shared Defect Sheds Light on the Human Genome
N Angier, New York Times, January 9, 2017 - TuberOus SClerosis registry to increase disease Awareness (TOSCA) - baseline data on 2093 patients.
Kingswood John C et al. Orphanet journal of rare diseases 2017 Jan 12(1) 2 - Survey of family history taking and genetic testing in pediatric practice.
Saul Robert A et al. Journal of community genetics 2017 Jan - A Model Program for Translational Medicine in Epilepsy Genetics.
Smith Lacey A et al. Journal of child neurology 2017 Jan 883073816685654 - Development of Database and Genomic Medicine for von Hippel-Lindau Disease in Japan.
Takayanagi Shunsaku et al. Neurologia medico-chirurgica 2017 Jan - A mysterious method of gene control sheds its secrets
J Couzin-Frankel, Science, January 12, 2017
Cancer
- Cost Comparison of Genetic Testing Strategies in Women With Epithelial Ovarian Cancer.
Foote Jonathan R et al. Journal of oncology practice 2017 Jan JOP2016011866 - Recommendations on breast cancer screening and prevention in the context of implementing risk stratification: impending changes to current policies.
Gagnon J et al. Current oncology (Toronto, Ont.) 2016 Dec 23(6) e615-e625 - Profiling Cancer's DNA
M Salamon, Genome Magazine, January 2017 - Lynch Syndrome: Knowing Your Cancer Risk Could Save Your Life
H Hampel, Every day health, December 2016 - The application of genome-wide 5-hydroxymethylcytosine studies in cancer research.
Thomson John P et al. Epigenomics 2017 Jan 9(1) 77-91 - Diagnosed With Ovarian Cancer, a Researcher Mined TCGA Data to Study Her Own Disease
AE Blum, NCI, December 2016 - How do BRCA1 and BRCA2 mutations cause cancer?
Mainstreaming Cancer Genetics, January 12, 2017 - A tailored approach to BRAF and MLH1 methylation testing in a universal screening program for Lynch syndrome.
Adar Tomer et al. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2017 Jan - Genetic counselling and high-penetrance susceptibility gene analysis reveal the novel CDKN2A p.D84V (c.251A>T) mutation in melanoma-prone families from Italy.
Borroni Riccardo G et al. Melanoma research 2017 Jan - Confirmation of ProMisE: A simple, genomics-based clinical classifier for endometrial cancer.
Talhouk Aline et al. Cancer 2017 Jan - Personalized Medicine Approach for an Exceptional Response to Multiple-recurrent and Metastatic HER2-positive Oropharyngeal Squamous Cell Carcinoma.
Seim Nolan B et al. The Annals of otology, rhinology, and laryngology 2017 Jan 3489416687309 - Impact of a bronchial genomic classifier on clinical decision making in patients undergoing diagnostic evaluation for lung cancer.
Ferguson J Scott et al. BMC pulmonary medicine 2016 May 16(1) 66 - How does genetic risk information for Lynch syndrome translate to risk management behaviours?
Steel Emma et al. Hereditary cancer in clinical practice 2017 151 - A targeted next-generation sequencing in the molecular risk stratification of adult acute myeloid leukemia: implications for clinical practice.
Lin Po-Han et al. Cancer medicine 2017 Jan - Evaluation of a two-year routine application of molecular testing of thyroid fine needle aspirations (FNA) using a 7-gene-panel in a primary referral setting in Germany.
Eszlinger Markus et al. Thyroid : official journal of the American Thyroid Association 2017 Jan - Genetics Consultation Rates Following a Diagnosis of High-Grade Serous Ovarian Carcinoma in the Canadian Province of Ontario.
McGee Jacob et al. International journal of gynecological cancer : official journal of the International Gynecological Cancer Society 2017 Jan - [Knowledge and willingness of breast cancer patients from Shanghai for genetic counseling and gene testing].
Cheng Xiaolin et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2016 Oct 33(5) 589-93 - NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Breast and Ovarian, Version 2.2017.
Daly Mary B et al. Journal of the National Comprehensive Cancer Network : JNCCN 2017 Jan 15(1) 9-20 - Knowledge acquired, satisfaction attained and attitudes towards shared decision making in colorectal cancer screening.
Garcia-Alonso Francisco J et al. Annals of gastroenterology : quarterly publication of the Hellenic Society of Gastroenterology 2017 30(1) 76-82
Chronic Diseases
- Proposal for a Prospective Registry for Moyamoya Disease in Japan.
Kazumata Ken et al. Neurologia medico-chirurgica 2017 Jan
Ethics, Policy and Law
- Expanding Access to Large-Scale Genomic Data While Promoting Privacy: A Game Theoretic Approach.
Wan Zhiyu et al. American journal of human genetics 2017 Jan - Health and genetic ancestry testing: time to bridge the gap.
Smart Andrew et al. BMC medical genomics 2017 Jan 10(1) 3
Genomics in Practice
- Electronic Health Records May Help Customize Medical Treatments
R Harris, NPR, January 9, 2017 - The current state of implementation science in genomic medicine: opportunities for improvement
MC Roberts et al, Genetics in Medicine, January 12, 2017 - Ushering in the $100 genome?
M Keshavan, StatNews, January 9, 2017 - Combining health records and genome sequencing for precision medicine
J. Harris, PHG Foundation, January 4, 2017 - Does Nurture Impact Your Nature?
C Pickering, HMMR media, January 11, 2017 - Genome Sequencing For Healthy People: Early Results
RC Green, Huffington Post, January 9, 2017 - Laboratory and clinical genomic data sharing is crucial to improving genetic health care: a position statement of the American College of Medical Genetics and Genomics.
Acmg Board Of Directors et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Jan - Personalised Medicine: A New Approach to Improving Health in Indigenous Australian Populations.
Rae Kym M et al. Public health genomics 2017 Jan - Whole-Genome Sequencing in Healthy People.
Lindor Noralane M et al. Mayo Clinic proceedings 2017 Jan 92(1) 159-172 - Put the Family Back in Family Health History: A Multiple-Informant Approach.
Lin Jielu et al. American journal of preventive medicine 2017 Jan - Direct-to-Consumer Genetic Testing: User Motivations, Decision Making, and Perceived Utility of Results.
Roberts J Scott et al. Public health genomics 2017 Jan - DNA Data Interpretation
L Beil, Genome Magazine, January 2017
Cardiovascular Diseases
- Younger Adults With Severe Dyslipidemia Less Likely to Be Prescribed Statins
TCTMD, January 5, 2017 - Using Human Genetics to Predict the Effects and Side Effects of Lipoprotein(a) Lowering Drugs.
Tybjærg-Hansen Anne et al. Journal of the American College of Cardiology 2016 Dec 68(25) 2773-2775 - Clinical and Mechanistic Insights Into the Genetics of Cardiomyopathy.
Burke Michael A et al. Journal of the American College of Cardiology 2016 Dec 68(25) 2871-2886 - Genetics and Genomics of Single-Gene Cardiovascular Diseases: Common Hereditary Cardiomyopathies as Prototypes of Single-Gene Disorders.
Marian Ali J et al. Journal of the American College of Cardiology 2016 Dec 68(25) 2831-2849 - Genetic screening in arterial hypertension.
Rossi Gian Paolo et al. Nature reviews. Endocrinology 2017 Jan - Genetics: Implications for Prevention and Management of Coronary Artery Disease.
Assimes Themistocles L et al. Journal of the American College of Cardiology 2016 Dec 68(25) 2797-2818 - Disclosing Genetic Risk for Coronary Heart Disease: Attitudes Toward Personal Information in Health Records.
Brown Sherry-Ann et al. American journal of preventive medicine 2017 Jan - A Web-Based Registry for Familial Hypercholesterolaemia.
Napier Kathryn R et al. Heart, lung & circulation 2016 Nov - [Diagnosis and treatment of familial hypercholesterolemia in Spain: consensus document].
Mata Pedro et al. Atencion primaria 2015 Jan 47(1) 56-65 - Rate of Statin Prescription in Younger Patients With Severe Dyslipidemia.
Al-Kindi Sadeer G et al. JAMA cardiology 2017 Jan
Newborn Screening
- Nine years of newborn screening for classical galactosemia in the Netherlands: Effectiveness of screening methods, and identification of patients with previously unreported phenotypes.
Welling Lindsey et al. Molecular genetics and metabolism 2016 Dec - The expansion and performance of national newborn screening programmes for cystic fibrosis in Europe.
Barben Jürg et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2016 Dec
Reproductive Health
- Genome sequencing and carrier testing: decisions on categorization and whether to disclose results of carrier testing
P Himes et al, Genetics in Medicine, January 12, 2017 - Non-invasive Prenatal Testing and the Unveiling of an Impaired Translation Process.
Murdoch Blake et al. Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC 2017 Jan 39(1) 10-17
Pharmacogenomics
- Ubiquitous Pharmacogenomics (U-PGx): The time for implementation is now. An Horizon2020 program to drive pharmacogenomics into clinical practice.
Cecchin Erika et al. Current pharmaceutical biotechnology 2017 Jan - Sequence and Phenotype Integration Exchange (SPHINX)
- Participant-perceived understanding and perspectives on pharmacogenomics: the Mayo Clinic RIGHT protocol (Right Drug, Right Dose, Right Time).
Olson Janet E et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Jan - Does Pharmacogenomic Testing Improve Clinical Outcomes for Major Depressive Disorder? A Systematic Review of Clinical Trials and Cost-Effectiveness Studies.
Rosenblat Joshua D et al. The Journal of clinical psychiatry 2017 Jan - Characterizing pharmacogenomic-guided medication use with a clinical data repository.
Mathias Patrick C et al. Clinical pharmacology and therapeutics 2017 Jan - Genomic Medicine Without Borders
Genome Magazine, January 2017
News/Reviews/Commentaries
- Informatics and Data Analytics to Support Exposome-Based Discovery for Public Health.
Manrai Arjun K, Cui Yuxia, Bushel Pierre R, Hall Molly, Karakitsios Spyros, Mattingly Carolyn J, Ritchie Marylyn, Schmitt Charles, Sarigiannis Denis A, Thomas Duncan C, Wishart David, Balshaw David M, Patel Chirag J Annual review of public health 2016 12 0. .
Events
- Rare Disease Day, February 27, 2017
NIH, National Centers for Advancement of Translational Sciences
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