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 pilot screening of high-risk Gaucher disease children using dried blood spot methods in Shandong province of China.
Lei Ke et al. Orphanet journal of rare diseases 2018 Apr 13(1) 48 - Fragile X Syndrome Therapy Granted Orphan Drug Designation
M Shanley, RareDR, Apr 3, 2018 - Wilson's disease: A 2017 update.
Poujois Aurélia et al. Clinics and research in hepatology and gastroenterology 2018 Apr - [Intervention of neonatal genetic diseases in the era of precision medicine: challenges and opportunities].
Wang H J et al. Zhonghua er ke za zhi = Chinese journal of pediatrics 2018 Apr 56(4) 244-246 - What are the treatments for autism?
No one fits all, NICHD 2018 - Genotype-Phenotype Analysis in Pediatric Patients with Distal Renal Tubular Acidosis.
Park Eujin et al. Kidney & blood pressure research 2018 Mar 43(2) 513-521 - Hereditary angio-oedema in the Western Cape Province, South Africa.
Coovadia K M et al. South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde 2018 Mar 108(4) 283-290 - Transition from paediatric to adult healthcare for young people with cystic fibrosis: Parents' information needs.
Coyne Imelda et al. Journal of child health care : for professionals working with children in the hospital and community 2018 Jan 1367493518768448 - Functional Complement Analysis Can Predict Genetic Testing Results and Long-Term Outcome in Patients With Complement Deficiencies.
Blazina Štefan et al. Frontiers in immunology 2018 9500 - Gene therapy in rare diseases: the benefits and challenges of developing a patient-centric registry for Strimvelis in ADA-SCID.
Stirnadel-Farrant Heide et al. Orphanet journal of rare diseases 2018 Apr 13(1) 49 - Fragile X checklists: A meta-analysis and development of a simplified universal clinical checklist.
Lubala Toni Kasole et al. Molecular genetics & genomic medicine 2018 Apr - Consensus clinical management guidelines for Niemann-Pick disease type C.
Geberhiwot Tarekegn et al. Orphanet journal of rare diseases 2018 Apr 13(1) 50
Cancer
- Findings Linking Mismatch Repair Mutation With Age at Endometrial and Ovarian Cancer Onset in Lynch Syndrome-Reply.
Crosbie Emma J et al. JAMA oncology 2018 Apr - Maine Cancer Genomics Initiative- Enhancing cancer diagnostics and treatment in Maine
Jackson Lab, 2018 - Findings Linking Mismatch Repair Mutation With Age at Endometrial and Ovarian Cancer Onset in Lynch Syndrome.
Bogani Giorgio et al. JAMA oncology 2018 Apr - Breast Cancer Family History and Contralateral Breast Cancer Risk in Young Women: An Update From the Women's Environmental Cancer and Radiation Epidemiology Study.
Reiner Anne S et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2018 Apr JCO2017773424 - Findings Linking Mismatch Repair Mutation With Age at Endometrial and Ovarian Cancer Onset in Lynch Syndrome.
Suerink Manon et al. JAMA oncology 2018 Apr - Single-agent panobinostat for relapsed/refractory diffuse large B-cell lymphoma: clinical outcome and correlation with genomic data. A phase 2 study of the Fondazione Italiana Linfomi.
Zaja Francesco et al. Leukemia & lymphoma 2018 Apr 1-7 - Screening For Lynch Syndrome Can Help Prevent Colon Cancer
New York CBS News, Apr 6, 2018 - Role of circulating tumor DNA in the management of patients with colorectal cancer.
Moati Emilie et al. Clinics and research in hepatology and gastroenterology 2018 Apr - Welcome to the Pan-Cancer Atlas
Cell Press, Apr 2018 - A 35-gene signature discriminates between rapidly- and slowly-progressing glioblastoma multiforme and predicts survival in known subtypes of the cancer.
Fatai Azeez A et al. BMC cancer 2018 Apr 18(1) 377 - The Impact of Drug Metabolism Gene Polymorphisms on Therapeutic Response and Survival in Diffuse Large B-Cell Lymphoma Patients.
Pál Ildikó et al. The Israel Medical Association journal : IMAJ 2018 Apr 20(4) 217-221 - Performance comparison of three DNA extraction kits on human whole-exome data from formalin-fixed paraffin-embedded normal and tumor samples.
Bonnet Eric et al. PloS one 2018 13(4) e0195471 - Co-Care: A Registry for Individuals at Increased Risk for Colorectal Cancer.
Sperling Dylan et al. Journal of registry management 2017 44(1) 11-6 - Towards automation of germline variant curation in clinical cancer genetics
V Rachivandran et al, BioRxIV, Apr 2018 - Sequencing of Tumor DNA to Guide Cancer Risk Assessment and Therapy
DH Spencer ,et al, JAMA Apr, 2018 - Pathogenic Germline Variants in 10,389 Adult Cancers.
Huang Kuan-Lin et al. Cell 2018 Apr 173(2) 355-370.e14 - Hundreds of Inherited Gene Variants Contribute to Cancer
A Olena, The Scientist, Apr 2018 - Cancer Genomics- Transforming how we study, diagnose, and treat cancer
NHGRI, Apr 9, 2018 - Simple and Rapid Method to Obtain High-quality Tumor DNA from Clinical-pathological Specimens Using Touch Imprint Cytology.
Amemiya Kenji et al. Journal of visualized experiments : JoVE 2018 Mar (133) - Genetic variants of vascular endothelial growth factor predict risk and survival of gliomas.
Linhares Paulo et al. Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine 2018 Mar 40(3) 1010428318766273 - Not quite healthy, not quite sick, women at risk of hereditary cancer can 'fall through the medical cracks',
by Soumya Karlamangla, Los Angeles Times. April 8, 2018 - The 9p21 locus as a potential therapeutic target and prognostic marker in colorectal cancer.
Bahrami Afsane et al. Pharmacogenomics 2018 Apr - Molecular Testing for Early Lung Cancer.
Altorki Nasser K et al. Archives of pathology & laboratory medicine 2018 Apr - Molecular Testing in Lung Cancer: Where to Draw the Line?
Halmos Balazs et al. Archives of pathology & laboratory medicine 2018 Apr - NIH completes in-depth genomic analysis of 33 cancer types
NIH News, Apr 5, 2018 - Current detection rates and time-to-detection of all identifiable BRCA carriers in the Greater London population.
Manchanda Ranjit et al. Journal of medical genetics 2018 Apr
Chronic Disease
- Prioritizing complex disease risk genes by integrating multiple data.
Guo Shanshan et al. Genomics 2018 Apr - Genetic risk factors in Parkinson's disease.
Billingsley K J et al. Cell and tissue research 2018 Mar - Polygenic risk score: use in migraine research.
Chalmer Mona Ameri et al. The journal of headache and pain 2018 Apr 19(1) 29 - Profound perturbation of the human metabolome by obesity
ET Cerulli et al, BioRXIV, Apr 2018 - Sleep disorders and Parkinson disease; lessons from genetics.
Gan-Or Ziv et al. Sleep medicine reviews 2018 Jan - What to Do with a Second Chance in Life? Long-Term Experiences of Non-carriers of Huntington's Disease.
Winnberg Elisabeth et al. Journal of genetic counseling 2018 Apr - Network Neuroscience: A Framework for Developing Biomarkers in Psychiatry.
Lydon-Staley David M et al. Current topics in behavioral neurosciences 2018 Apr - Targeted next generation sequencing with an extended gene panel does not impact variant detection in mitochondrial diseases.
Plutino Morgane et al. BMC medical genetics 2018 Apr 19(1) 57
Ethical, Legal and Social Issues (ELSI)
- Beyond Consent: Building Trusting Relationships With Diverse Populations in Precision Medicine Research.
Kraft Stephanie A et al. The American journal of bioethics : AJOB 2018 Apr 18(4) 3-20 - Enhance Diversity Among Researchers to Promote Participant Trust in Precision Medicine Research.
Sierra-Mercado Demetrio et al. The American journal of bioethics : AJOB 2018 Apr 18(4) 44-46 - Alerting relatives about heritable risks: the limits of confidentiality.
Lucassen Anneke et al. BMJ (Clinical research ed.) 2018 Apr 361k1409 - Ethical Guidelines for Genetic Research on Alcohol Addiction and Its Applications.
Chapman Audrey R et al. Kennedy Institute of Ethics journal 2018 28(1) 1-22
General Practice
- Doctors don’t feel qualified to interpret genomic tests, concludes Cambridge’s PHG Foundation
P Brackley, Cambridge Independent, Apr 2018 - Human Genomic Variation- Understanding what makes each of us different and what makes us the same
NHGRI, Apr 6, 2018 - Effectiveness of personal genomic testing for disease-prevention behavior when combined with careful consultation with a physician: a preliminary study.
Hayashi Mikihiro et al. BMC research notes 2018 Apr 11(1) 223 - Integrating phosphoproteomics into kinase-targeted cancer therapies in precision medicine.
Wu Xiaomo et al. Journal of proteomics 2018 Apr - Genetic counselling in the era of genomic medicine.
Patch Christine et al. British medical bulletin 2018 Apr - Trust, Precision Medicine Research, and Equitable Participation of Underserved Populations.
Sabatello Maya et al. The American journal of bioethics : AJOB 2018 Apr 18(4) 34-36 - The Role of the Health Care Provider in Building Trust Between Patients and Precision Medicine Research Programs.
Persaud Anitra et al. The American journal of bioethics : AJOB 2018 Apr 18(4) 26-28 - Whole genome sequencing will 'transform the research landscape for a wide range of diseases'
US Biobank, Apr 5, 2018 - The long view on sequencing.
et al. Nature biotechnology 2018 Apr 36(4) 287 - PheWAS and Beyond: The Landscape of Associations with Medical Diagnoses and Clinical Measures across 38,662 Individuals from Geisinger.
Verma Anurag et al. American journal of human genetics 2018 Mar - Human Genomic Variation- Understanding what makes each of us different and what makes us the same
NHGRI, Apr 6, 2018 - Consumers don't need experts to interpret genetic risk reports
A Wojcicki, StatNews, Apr 9, 2018 - Building online genomics applications using BioPyramid.
Stephenson Liam et al. Bioinformatics (Oxford, England) 2018 Mar - Epidemiology in wonderland: Big Data and precision medicine.
Saracci Rodolfo et al. European journal of epidemiology 2018 Mar 33(3) 245-257 - Principles of Genetic Counseling in the Era of Next-Generation Sequencing.
Yang Mina et al. Annals of laboratory medicine 2018 Jul 38(4) 291-295 - Proceedings from the 10th Annual Conference on the Science of Dissemination and Implementation
BMC Implementation Science, Apr 2018 - "Don't Forget the 'Epi' in Genetics Research," Scientist Says
Frontline Genomics, Apr 6, 2018 - In with the New: Genetic counselors can help families communicate genetic risk.
B Helm, Genome Magazine, Apr 3, 2018 - Whole genome sequencing provides better diagnostic yield and future value than whole exome sequencing.
Mattick John S et al. The Medical journal of Australia 2018 Apr - Human Genome Project Celebrates 15th Anniversary
K Shaikh, Genome Magazine, Apr 5, 2018 - Commentary on "Commercial Genetic Testing and the Future of the Genetic Counseling Profession".
Hoskovec Jennifer et al. Journal of genetic counseling 2018 Apr - Personal Genomics and Cryptocurrency Team Up
J Abbasi, JAMA, Apr 10, 2018 - Nearly half of home genetic tests could be wrong, study says
N Parker, AJC, Apr 9, 2018
Heart, Lung, Blood and Sleep Diseases
- Genomics and Population Health Action: The Collaboration Continues!
MJ Khoury, CDC Blog, Apr 9, 2018 - Prevalence of Asthma, Asthma Attacks, and Emergency Department Visits for Asthma Among Working Adults - National Health Interview Survey, 2011-2016.
Mazurek Jacek M et al. MMWR. Morbidity and mortality weekly report 2018 Apr 67(13) 377-386 - Impact of age on excess risk of coronary heart disease in patients with familial hypercholesterolaemia.
Mundal Liv J et al. Heart (British Cardiac Society) 2018 Apr - Removing barriers to optimal treatment and care of FH
The FH Foundation, Mar, 2018 - Keeping Fit Helps Fight Heart Disease, Even Among Those at Genetic Risk
Frontline Genomics, Apr 10, 2018 - Update on asthma genetics: Results from meta-analyses of candidate gene association studies.
Tizaoui K et al. Current molecular medicine 2018 Mar - CDC's Sickle Cell Disease Surveillance History
- PXR polymorphisms have impact on the clinical efficacy of clopidogrel in patients undergoing percutaneous coronary intervention.
Wu Yan et al. Gene 2018 May 65322-28 - Cardiovascular Event Reduction with PCSK9 Inhibition Among 1,578 Patients with Familial Hypercholesterolemia: Results from the SPIRE Randomized Trials of Bococizumab
PM Ridker et al, J CLin Lipid, Ape 2018 - Associations of Fitness, Physical Activity, Strength, and Genetic Risk With Cardiovascular Disease: Longitudinal Analyses in the UK Biobank Study
E Tikanen et al, Circulation, Apr 10, 2018 - Parent-child genetic testing for familial hypercholesterolaemia in an Australian context.
Pang Jing et al. Journal of paediatrics and child health 2018 Apr - Comorbidities in aging patients with sickle cell disease.
Ballas Samir K et al. Clinical hemorheology and microcirculation 2018 68(2-3) 129-145 - When heart disease runs in the family, exercise tied to lower risk
L Rapaport, Reuters, Apr 10, 2018
Newborn Screening
- [Targeted newborn screening for sickle-cell anemia: Sickling test (Emmel test) boundaries in the prenatal assessment in West African area].
Diallo D A et al. Revue d'epidemiologie et de sante publique 2018 Apr - Treatment Algorithm for Infants Diagnosed with Spinal Muscular Atrophy through Newborn Screening.
Glascock Jacqueline et al. Journal of neuromuscular diseases 2018 Mar
Pharmacogenomics
- Clinical pharmacogenetics: how do we ensure a favorable future for patients?
Wiltshire Tim et al. Pharmacogenomics 2018 Apr - Proton Pump Inhibitors: from CYP2C19 Pharmacogenetics to Precision Medicine.
El Rouby Nihal et al. Expert opinion on drug metabolism & toxicology 2018 Apr - Value of Supportive Care Pharmacogenomics in Oncology Practice.
Patel Jai N et al. The oncologist 2018 Apr - Polygenic risk scores for major depressive disorder and neuroticism as predictors of antidepressant response: meta-analysis of three treatment cohorts.
J Ward et al, BioRXIV, Apr 2018
Reproductive Health
- Does preimplantation genetic diagnosis improve reproductive outcome in couples with recurrent pregnancy loss owing to structural chromosomal rearrangement? A systematic review.
Iews Mahmoud et al. Reproductive biomedicine online 2018 Mar
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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