Publication Date: Oct 11, 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
- Cystic fibrosis survival: the changing epidemiology.
Corriveau Sophie et al. Current opinion in pulmonary medicine 2018 Nov 24(6) 574-578 - Finding Answers for Patients With Rarest of Rare Diseases
Associated Press, New York Times, October 11, 2018 - Pitfalls of clinical exome and gene panel testing: alternative transcripts.
Bodian Dale L et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Oct - Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease.
Gross Andrew M et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Oct - Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases.
Nair Pratibha et al. Molecular genetics & genomic medicine 2018 Oct - Diagnostic and Therapeutic Misconception: Parental Expectations and Perspectives Regarding Genetic Testing for Developmental Disorders.
Tremblay Isabelle et al. Journal of autism and developmental disorders 2018 Oct - Identification of clinically actionable variants from genome sequencing of families with congenital heart disease.
Alankarage Dimuthu et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Oct - Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease
K Splinter et al, NEJM, October 10, 2018 - Genetic diagnosis of neurofibromatosis type 1: targeted next- generation sequencing with Multiple Ligation-Dependent Probe Amplification analysis.
Wu-Chou Yah-Huei et al. Journal of biomedical science 2018 Oct 25(1) 72
Cancer
- Features of incident colorectal cancer in Lynch syndrome.
Argillander Tanja E et al. United European gastroenterology journal 2018 Oct 6(8) 1215-1222 - Validation of a genetic risk score for Arkansas women of color.
Starlard-Davenport Athena et al. PloS one 2018 13(10) e0204834 - [Cancer genetic counseling.]
Castro Mujica María Del Carmen et al. Revista de la Facultad de Ciencias Medicas (Cordoba, Argentina) 2018 75(2) 146-147 - Genomics of drug sensitivity in bladder cancer: an integrated resource for pharmacogenomic analysis in bladder cancer.
Ansari Adnan Ahmad et al. BMC medical genomics 2018 Oct 11(1) 88 - Current mismatch repair deficiency tumor testing practices and capabilities: A survey of Australian pathology providers.
Mascarenhas Lyon et al. Asia-Pacific journal of clinical oncology 2018 Oct - Risk-Reducing Options for Women with a Hereditary Breast Cancer Predisposition.
Jatoi Ismail et al. European journal of breast health 2018 Oct 14(4) 189-193 - Changing landscape of hereditary breast and ovarian cancer germline genetic testing in Australia.
Petelin Lara et al. Internal medicine journal 2018 Oct 48(10) 1269-1272 - Cancer origins—genetics rules the day
MS Kareta et al, Science October 4, 2018 - Lynch Syndrome can lead to cancer — why physicians don't test for it
F Dawson, Tulane University, October 9, 2018 - Investigation of clinically relevant germline variants detected by next-generation sequencing in patients with childhood cancer: a review of the literature.
Sylvester Dianne E et al. Journal of medical genetics 2018 Oct - Presymptomatic genetic testing for hereditary cancer in young adults: a survey of young adults and parents.
Godino Lea et al. European journal of human genetics : EJHG 2018 Oct - Immune Checkpoint Inhibitor Toxicity in 2018.
Johnson Douglas B et al. JAMA 2018 Oct - Utility of circulating tumor DNA in cancer diagnostics with emphasis on early detection.
Fiala Clare et al. BMC medicine 2018 Oct 16(1) 166 - Gynecological-endocrinological aspects in women carriers of BRCA1/2 gene mutations.
Doren A et al. Climacteric : the journal of the International Menopause Society 2018 Oct 1-7 - The next frontier in the battle against childhood cancer: Genetics and genomics
N Blanton, Baylor Medicine, Blog, October 9, 2018 - Plasma vs Tissue Next-Generation Sequencing in Non–Small Cell Lung Cancer—Either, Both, or Neither?
B Gyawali et al, JAMA Oncology, October 11, 2018
Chronic Disease
- Implementing personalized medicine in diabetic kidney disease: Stakeholders' perspectives.
de Vries Jeroen K et al. Diabetes, obesity & metabolism 2018 Oct 20 Suppl 324-29 - Genetic Risk of Alzheimer's Disease: Three Wishes Now That the Genie is Out of the Bottle.
Frank Lori et al. Journal of Alzheimer's disease : JAD 2018 Sep - Gene mutation points to new way to fight diabetes, obesity, heart disease
NIH, October 9, 2018 - Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series.
Koriath C et al. Molecular psychiatry 2018 Oct - Public resources aid diabetes gene discovery.
Cousminer Diana L et al. Nature genetics 2018 Oct - The Genetic Basis of Psoriasis.
Capon Francesca et al. International journal of molecular sciences 2017 Nov 18(12) - Working toward precision medicine approaches to treat severe obesity in adolescents: report of an NIH workshop.
Kelly Aaron S et al. International journal of obesity (2005) 2018 Oct - Clinical and Demographic Evaluation According to MEFV Genes in Patients with Familial Mediterranean Fever.
Sönmezgöz Ergün et al. Biochemical genetics 2018 Oct - Genetic signature to provide robust risk assessment of psoriatic arthritis development in psoriasis patients
MT Patrick et al, Nature Communications, October 9, 2018 - DNA Methylation as a Biomarker of Treatment Response Variability in Serious Mental Illnesses: A Systematic Review Focused on Bipolar Disorder, Schizophrenia, and Major Depressive Disorder.
Goud Alladi Charanraj et al. International journal of molecular sciences 2018 Oct 19(10) - An integrative systems biology approach for precision medicine in diabetic kidney disease.
Mulder Skander et al. Diabetes, obesity & metabolism 2018 Oct 20 Suppl 36-13
Ethical, Legal and Social Issues (ELSI)
- Opening the "black box" of informed consent appointments for genome sequencing: a multisite observational study.
Sanderson Saskia C et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Oct - Variant data sharing by clinical laboratories through public databases: consent, privacy and further contact for research policies.
Shabani Mahsa et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Oct - Ethical concerns regarding Danish genetic research.
Kristiansen Thomas Birk et al. Molecular psychiatry 2018 Oct - Returning Results to Family Members: Professional Duties in Genomics Research in the United States.
Fox Dov et al. The Journal of legal medicine 38(2) 201-219 - Precision medicine in diabetes and diabetic kidney disease: Regulatory considerations.
Mol Peter G M et al. Diabetes, obesity & metabolism 2018 Oct 20 Suppl 319-23
General Practice
- Evaluating the Outcomes Associated with Genomic Sequencing
J Buchanan, Health Economics and Genomics Blog, October 10, 2018 - The Family Gene Toolkit,
University of Michigan - The attitude of blood donors towards the use of their samples and information in biomedical research.
Al-Hindi Adnan I et al. Journal of blood medicine 2018 9145-151 - The approach to predictive medicine that is taking genomics research by storm- Polygenic risk scores represent a giant leap for gene-based diagnostic tests. Here’s why they’re still so controversial.
M Warren, Nature News, October 10, 2018 - From Food for Survival to Food for Personalized Optimal Health: A Historical Perspective of How Food and Nutrition Gave Rise to Nutrigenomics.
Sikalidis Angelos K et al. Journal of the American College of Nutrition 2018 Oct 1-12 - GWAS to the people
Nature Medicine editorial, October 8, 2018 - Next-Generation Sequencing to Diagnose Suspected Genetic Disorders.
Adams David R et al. The New England journal of medicine 2018 379(14) 1353-1362 - Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study.
Hart M Ragan et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Oct - Classification, Ontology, and Precision Medicine
MA Haendel et al, NEJM, October 10, 2018 - 1 in 38 individuals at risk of a dominant medically actionable disease.
Haer-Wigman Lonneke et al. European journal of human genetics : EJHG 2018 Oct - The Global State of the Genetic Counseling Profession.
Abacan MaryAnn et al. European journal of human genetics : EJHG 2018 Oct - The clinical code-breakers- DNA sequencing is helping clinicians to unravel the underpinnings of disease in individual patients.
M Eisenstein, Nature, October 8, 2018
Heart, Lung, Blood and Sleep Diseases
- Phenotypic spectrum of patients with cystic fibrosis and cystic fibrosis-related disease carrying p.Arg117His.
Keenan Katherine et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2018 Sep - Genomic Risk Prediction of Coronary Artery Disease in 480,000 Adults: Implications for Primary Prevention
M Inouye et al, JACC< October 2018 - [Screening for familial hypercholesterolemia from low-density lipoprotein cholesterol levels at admission in the coronary care unit].
Chemaly P et al. Annales de cardiologie et d'angeiologie 2018 Oct - Multiplex testing for Factor II and Factor V mutations in thrombophilia: technical verification and clinical validation of the cobas® Factor II and Factor V test.
Longshore John W et al. Journal of thrombosis and thrombolysis 2018 Oct - Effect of Gender and Genetic Mutations on Outcomes in Patients With Hypertrophic Cardiomyopathy.
van Velzen Hannah G et al. The American journal of cardiology 2018 Sep - Autosomal dominant hypercholesterolemia in Catalonia: Correspondence between clinical-biochemical and genetic diagnostics in 967 patients studied in a multicenter clinical setting.
Martín-Campos Jesús M et al. Journal of clinical lipidology 2018 Sep - Venous thromboembolism laboratory testing (factor V Leiden and factor II c.*97G>A), 2018 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG)
S Zhang et al, Genetics in Medicine, October 9, 2018 - The Gulf Familial Hypercholesterolemia Registry (Gulf FH): Design, Rationale and Preliminary Results.
Al-Rasadi Khalid et al. Current vascular pharmacology 2018 Oct - Point-of-Care Screening for Sickle-Cell Disease in Low-Resource Settings: a Multi-Center Evaluation of HemoTypeSC, a Novel Rapid Test.
Steele Cindy et al. American journal of hematology 2018 Oct
Newborn Screening
- Galactosaemia - should it be screened in newborns?
Bosch Annet M et al. Developmental period medicine 2018 22(3) 221-224 - Putting genome-wide sequencing in neonates into perspective
E van der Sluijs et al, Genetics in Medicine, October 4, 2018 - Analysis of mutation spectrum of common deafness-causing genes in Hakka newborns in southern China by semiconductor sequencing.
Zhao Pingsen et al. Medicine 2018 Sep 97(38) e12285 - Newborn Screening for IKBKB Deficiency in Manitoba, Using Genetic Mutation Analysis.
Rubin Tamar S et al. Journal of clinical immunology 2018 Oct - Newborn dried blood spot samples in Denmark: the hidden figures of secondary use and research participation.
Nordfalk Francisca et al. European journal of human genetics : EJHG 2018 Oct - Understanding Midwives' Preferences for Providing Information About Newborn Bloodspot Screening.
Wright Stuart James et al. MDM policy & practice 3(1) 2381468317746170
Pharmacogenomics
- Companies Tout Psychiatric Pharmacogenomic Testing, But Is It Ready for a Store Near You?
Abbasi Jennifer et al. JAMA 2018 Oct - The use of biomarkers as a tool for novel psoriatic disease drug discovery.
Aggarwal Dinesh et al. Expert opinion on drug discovery 2018 Sep 13(9) 875-887 - Economic evaluation of a pharmacogenomic multi-gene panel test to optimize anti-hypertension therapy: simulation study.
Kelley Eli F et al. Journal of medical economics 2018 Oct 1-19 - New clinical trial designs for establishing drug efficacy and safety in a precision medicine era.
Heerspink Hiddo J L et al. Diabetes, obesity & metabolism 2018 Oct 20 Suppl 314-18
Reproductive Health
- The first competency based framework in genetics/genomics specifically for midwifery education and practice.
Tonkin Emma T et al. Nurse education in practice 2018 Sep 33133-140 - Clinical utility of expanded carrier screening: results-guided actionability and outcomes
KA Johansen et al, Genetics in Medicine, October 11, 2018 - Genomic Analyses from Non-invasive Prenatal Testing Reveal Genetic Associations, Patterns of Viral Infections, and Chinese Population History.
Liu Siyang et al. Cell 2018 Oct 175(2) 347-359.e14 - Trends in the use of prenatal testing services for fetal aneuploidy in Ontario: a descriptive study.
Huang Tianhua et al. CMAJ open 6(4) E436-E444 - [Screening for hotspot mutations associated with genetic hearing impairment in pregnant women and subsequent prenatal diagnosis in high risk pregnancies].
Yang K et al. Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery 2018 Sep 53(9) 645-649 - Prenatal profile of Pallister-Killian syndrome: Retrospective analysis of 114 pregnancies, literature review and approach to prenatal diagnosis.
Salzano E et al. American journal of medical genetics. Part A 2018 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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