Publication Date: Sep 13, 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
- A Battle Plan for a War on Rare Diseases
K Weintraub, New York Times, September 10, 2018 - Further evidence for complex inheritance of holoprosencephaly: Lessons learned from pre- and postnatal diagnostic testing in Germany.
Hinreiner Sophie et al. American journal of medical genetics. Part C, Seminars in medical genetics 2018 Jun 178(2) 198-205 - Paroxysmal Dyskinesia in Children: from Genes to the Clinic.
Kim Soo Yeon et al. Journal of clinical neurology (Seoul, Korea) 2018 Jul - Incorporating the patient perspective in the study of rare bone disease: insights from the osteogenesis imperfecta community.
Swezey T et al. Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA 2018 Sep - Associations between congenital heart defects and genetic and morphological anomalies. The importance of prenatal screening.
Pavlicek Jan et al. Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia 2018 Sep - Gene Editing in Dogs Boosts Hope for Kids with Muscular Dystrophy
F Collins, NIH Director's Blog, September 2018 - Wilson disease.
Czlonkowska Anna et al. Nature reviews. Disease primers 2018 Sep 4(1) 21 - Persistent Hypoglycemia in Children: Targeted Gene Panel Improves the Diagnosis of Hypoglycemia due to Inborn Errors of Metabolism.
Ponzi Emanuela et al. The Journal of pediatrics 2018 Sep - Consensus approach for the management of severe combined immune deficiency caused by adenosine deaminase deficiency.
Kohn Donald B et al. The Journal of allergy and clinical immunology 2018 Sep - Crouzon syndrome: Genetic and intervention review.
Al-Namnam N M et al. Journal of oral biology and craniofacial research 9(1) 37-39 - Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants.
Pizzo Lucilla et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Sep - Effect of multiple hereditary exostoses on sports activity in children.
D'Ambrosi Riccardo et al. Journal of orthopaedics 2018 Dec 15(4) 927-930 - Development of High-Throughput Clinical Testing of RPGR ORF15 Using a Large Inherited Retinal Dystrophy Cohort.
Chiang John P W et al. Investigative ophthalmology & visual science 2018 Sep 59(11) 4434-4440
Cancer
- Communication and Decision Making for Individuals with Inherited Cancer Syndromes
NCI Cancer Moonshot Funding Announcement, September 2018 - Predicting response to immunotherapy
NIH Research Matters, September 2018 - Future of Evidence Synthesis in Precision Oncology: Between Systematic Reviews and Biocuration
SM Boca et al, JCO Precision Oncology, September 2018 - How I use molecular genetic tests to evaluate patients who have or may have myelodysplastic syndromes.
Steensma David P et al. Blood 2018 Sep - RAS-expanded Mutations and HER2 Expression in Metastatic Colorectal Cancer: A New Step of Precision Medicine.
Valentini Anna M et al. Applied immunohistochemistry & molecular morphology : AIMM 2018 Sep 26(8) 539-544 - Finding Pediatric Cancer Genomic Data through PGDI
NCI, September 2018 - Families' and health care professionals' attitudes towards Li-Fraumeni Syndrome testing in children: a systematic review.
Warby Meera et al. Clinical genetics 2018 Sep - Comparing Prognostic Utility of a Single-marker Immunohistochemistry Approach with Commercial Gene Expression Profiling Following Radical Prostatectomy.
Leapman Michael S et al. European urology 2018 Sep - Clinical practice guidance for next-generation sequencing in cancer diagnosis and treatment (Edition 1.0).
Sunami Kuniko et al. Cancer science 2018 Sep 109(9) 2980-2985 - Chronic Myeloid Leukemia, Version 1.2019, NCCN Clinical Practice Guidelines in Oncology.
Radich Jerald P et al. Journal of the National Comprehensive Cancer Network : JNCCN 2018 Sep 16(9) 1108-1135 - Integration of Next-generation Sequencing and Immune Checkpoint Inhibitors in Targeted Symptom Control and Palliative Care in Solid Tumor Malignancies: A Multidisciplinary Clinician Perspective.
Feinsilber Doron et al. Cureus 2018 Jul 10(7) e2909 - Pheochromocytoma: When to search a germline defect?
Buffet Alexandre et al. Presse medicale (Paris, France : 1983) 47(7-8 Pt 2) e109-e118 - Are We Being Misled About Precision Medicine?
L Szabo, New York Times, September 11, 2018 - Comprehensive genetic diagnosis of acute myeloid leukemia by next generation sequencing.
Mack Elisabeth K M et al. Haematologica 2018 Sep - Prognostic implications of additional genomic lesions in adult Ph+ acute lymphoblastic leukemia.
Fedullo Anna Lucia et al. Haematologica 2018 Sep - MGMT promoter methylation status testing to guide therapy for glioblastoma: refining the approach based on emerging evidence and current challenges.
Mansouri Alireza et al. Neuro-oncology 2018 Sep - Impact of family history of cancer on risk and mortality of second cancers in patients with prostate cancer.
Chattopadhyay Subhayan et al. Prostate cancer and prostatic diseases 2018 Sep - Real-world health services utilisation and outcomes after BRCA1 and BRCA2 testing in Ontario, Canada: the What Comes Next Cohort Study protocol.
Dossa Fahima et al. BMJ open 2018 Sep 8(9) e025317 - Physician attitudes about genetic testing for localized prostate cancer: A national survey of radiation oncologists and urologists.
Kim Simon P et al. Urologic oncology 2018 Sep - Using genomics to guide treatment for glioblastoma.
Young Jacob S et al. Pharmacogenomics 2018 Sep - High rate of occult cancer found in prophylactic mastectomy specimens despite thorough presurgical assessment with MRI and ultrasound: findings from the Hereditary Breast and Ovarian Cancer Registration 2016 in Japan.
Yamauchi Hideko et al. Breast cancer research and treatment 2018 Sep - Unraveling the Mystery of What Gives Exceptional Responders Their Superpower
J Cavallo, ASCO Post, August 2018 - Rare Genetic Diseases with Defects in DNA Repair: Opportunities and Challenges in Orphan Drug Development for Targeted Cancer Therapy.
Bhattacharjee Sonali et al. Cancers 2018 Sep 10(9)
Chronic Disease
- Genetics of Severe Obesity
U Fairbrother et al, Curr Diabetes Reports, October 2018 - Yield of diagnostic tests in unexplained renal hypophosphatemia: a case series.
Bech A P et al. BMC nephrology 2018 Sep 19(1) 220 - On the threshold of personalized medicine in inflammatory bowel disease: Next generation genetic predictors.
Parkes Miles et al. Journal of gastroenterology and hepatology 2018 Sep 33 Suppl 35-6 - Application of Precision Medicine in Neurodegenerative Diseases.
Strafella Claudia et al. Frontiers in neurology 2018 9701 - Screening for Niemann-Pick Type C Disease in a Memory Clinic Cohort.
Traschütz Andreas et al. JIMD reports 2018 Sep - Comprehensive genetic screening: the prevalence of MODY gene variants in a population-based childhood diabetes cohort.
Johnson Stephanie R et al. Pediatric diabetes 2018 Sep - Traditional clinical criteria outperform high-sensitivity C-reactive protein for the screening of hepatic nuclear factor 1 alpha maturity-onset diabetes of the young among young Asians with diabetes.
Rama Chandran Suresh et al. Therapeutic advances in endocrinology and metabolism 2018 Sep 9(9) 271-282 - The patient journey to diagnosis and treatment of autoinflammatory diseases.
Hausmann Jonathan S et al. Orphanet journal of rare diseases 2018 Sep 13(1) 156 - The many faces of genetic contributions to temporomandibular joint disorder: An updated review.
Scariot Rafaela et al. Orthodontics & craniofacial research 2018 Sep - A Precision Medicine Model for Targeted NSAID Therapy in Alzheimer's Disease.
O'Bryant Sid E et al. Journal of Alzheimer's disease : JAD 2018 Sep
Ethical, Legal and Social Issues (ELSI)
- You Discovered Your Genetic History. Is It Worth the Privacy Risk?
M Rodriguez, Fortune, September 10, 2018 - Disclosure of sex when incidentally revealed as part of preimplantation genetic testing (PGT): an Ethics Committee opinion.
et al. Fertility and sterility 2018 Sep 110(4) 625-627 - Conclusion: harmonisation in genomic and health data sharing for research: an impossible dream?
Townend David et al. Human genetics 2018 Aug 137(8) 657-664 - Community Partnership in Precision Medicine: Themes from a Community Engagement Conference.
Jones Loretta et al. Ethnicity & disease 2018 28(Suppl 2) 503-510 - Privacy and genetic genealogy data.
Greytak Ellen M et al. Science (New York, N.Y.) 2018 361(6405) 857 - Innovation for rare diseases and bioethical concerns: A thin thread between medical progress and suffering.
Tommasini Alberto et al. World journal of clinical pediatrics 2018 Aug 7(3) 75-82 - South Korea: in the midst of a privacy reform centered on data sharing.
Kim Hannah et al. Human genetics 2018 Aug 137(8) 627-635 - Balancing Needs and Autonomy: The Involvement of Pregnant Women's Partners in Decisions About cfDNA.
Farrell Ruth M et al. Qualitative health research 2018 Sep 1049732318796833
General Practice
- My Family Health Portrait: A Tool from The Surgeon General
Public Health Genomics Knowledge Base, September 6, 2018 - Announcing a New CDC Home for the U.S. Surgeon General’s Family Health History Tool
MJ Khoury, LL Rodriguez, CDC Blog Post, September 6, 2018 - Interpretations of the Term "Actionable" when Discussing Genetic Test Results: What you Mean Is Not What I Heard.
Gornick Michele C et al. Journal of genetic counseling 2018 Sep - Molecular test of age highlights difficult questions.
et al. Nature 2018 Sep 561(7721) 5 - The paradox of precision medicine.
Kimmelman Jonathan et al. Nature reviews. Clinical oncology 2018 Jun 15(6) 341-342 - The paradox of precision medicine.
Kimmelman Jonathan et al. Nature reviews. Clinical oncology 2018 Jun 15(6) 341-342 - Challenges and opportunities for effective delivery of clinical genetic services in the U.S. healthcare system.
Flannery David B et al. Current opinion in pediatrics 2018 Sep - European scientists seek 'epigenetic clock' to determine age of refugees.
Abbott Alison et al. Nature 2018 Sep 561(7721) 15 - AI will improve healthcare and cut costs - if we get these 4 things right
F Liebert, World Economic Forum, August 2018 - Race and precision medicine: is it time for an upgrade?
Roman Youssef M et al. The pharmacogenomics journal 2018 Sep - Decoding Your DNA: What to Consider Before Genetic Testing
K Hobson, US News, September, 2018 - How AI technology can tame the scientific literature
A Extance, Nature News, September 10, 2018 - Valuation of Health and Nonhealth Outcomes from Next-Generation Sequencing: Approaches, Challenges, and Solutions
DA Regier et al, Value in Health, September 2018 - Can epigenetics help verify the age claims of refugees?
A Abbott, Nature, September 4, 2018
Heart, Lung, Blood and Sleep Diseases
- FH Awareness Day Media Kit, September 24, 2018
The FH Foundation, September 2018 - Decoding the Genomics of Abdominal Aortic Aneurysm.
Li Jingjing et al. Cell 2018 Sep 174(6) 1361-1372.e10 - Researchers can forecast risk of deadly vascular condition from genome sequence
Stanford Medicine, September 6, 2018 - Screening for Fabry Disease in Japanese Patients with Young-Onset Stroke by Measuring α-Galactosidase A and Globotriaosylsphingosine.
Kinoshita Naoto et al. Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association 2018 Sep - The Sickle Cell Disease Implementation Consortium: Translating Evidence-Based Guidelines into Practice for Sickle Cell Disease.
DiMartino Lisa D et al. American journal of hematology 2018 Sep - The role of patient and healthcare professionals in the era of new hemophilia treatments in developed and developing countries.
Nossair Fadi et al. Therapeutic advances in hematology 2018 Aug 9(8) 239-249 - FAMILIAL CHYLOMICRONEMIA SYNDROME: A CLINICAL GUIDE FOR ENDOCRINOLOGISTS.
Falko James M et al. Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists 2018 Aug 24(8) 756-763 - HLBS-PopOmics: an online knowledge base to accelerate dissemination and implementation of research advances in population genomics to reduce the burden of heart, lung, blood, and sleep disorders.
Mensah George A et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Sep - Preventing 1 Million Heart Attacks and Strokes- Middle-aged adults are being hard hit
CDC Vital Signs, September 6, 2018 - When high cholesterol and heart disease runs in the family: Familial Hypercholesterolemia
American Heart Association, Podcast, September 2018 - Stakeholder Views on Active Cascade Screening for Familial Hypercholesterolemia.
van El Carla G et al. Healthcare (Basel, Switzerland) 2018 Aug 6(3) - Utilizing Whole-Exome Sequencing to Characterize the Phenotypic Variability of Sickle Cell Disease.
Alsultan Abdulrahman et al. Genetic testing and molecular biomarkers 2018 Sep
Newborn Screening
- Newborn Screening for Hemoglobinopathies in Rhode Island, 2017.
Sprinz Philippa et al. Rhode Island medical journal (2013) 2018 Sep 101(7) 17-20
Pharmacogenomics
- Does cardiology hold pharmacogenetics to an inconsistent standard? A comparison of evidence among recommendations.
Luzum Jasmine A et al. Pharmacogenomics 2018 Sep - The combined effect of CYP2D6 and DRD2 Taq1A polymorphisms on the antipsychotics daily doses and hospital stay duration in schizophrenia inpatients (observational naturalistic study).
Kurylev Alexey A et al. Psychiatria Danubina 2018 Jun 30(2) 157-163 - Challenges and Solutions for Future Pharmacy Practice in the Era of Precision Medicine.
Dong Olivia M et al. American journal of pharmaceutical education 2018 Aug 82(6) 6652 - Can an Integrated Science Approach to Precision Medicine Research Improve Lithium Treatment in Bipolar Disorders?
Scott Jan et al. Frontiers in psychiatry 2018 9360 - Knowledge, perceptions and confidence of physicians and pharmacists towards pharmacogenetics practice in Kuwait.
Albassam Abdullah et al. PloS one 2018 13(9) e0203033 - User considerations in assessing pharmacogenomic tests and their clinical support tools
G. Mukherjee et al, NPJ Genomic Medicine, September 11, 2018 - Genotype-guided Warfarin Dosing in Patients with Mechanical Valves: a Randomized Controlled Trial.
Xu Zhe et al. The Annals of thoracic surgery 2018 Sep
Reproductive Health
- The epidemic of abnormal copy number variant cases missed because of reliance upon noninvasive prenatal screening.
Evans Mark I et al. Prenatal diagnosis 2018 Sep 38(10) 730-734 - Impact of pregnancy on inborn errors of metabolism.
Wilcox Gisela et al. Reviews in endocrine & metabolic disorders 2018 Sep - Does Maternal Body Mass Index Affect the Quantity of Circulating Fetal Cells Available to Use for Cell-Based Noninvasive Prenatal Test in High-Risk Pregnancies?
Kruckow Sofie et al. Fetal diagnosis and therapy 2018 Sep 1-4 - What are the goals of prenatal genetic testing?
Dukhovny Stephanie et al. Seminars in perinatology 2018 Jul - Low Gonadotropin Dosage Reduces Aneuploidy in Human Preimplantation Embryos: First Clinical Study in a UAE Population.
Sachdeva Kabir et al. Genetic testing and molecular biomarkers 2018 Sep - Updates on Screening, Prevention, Treatment, and Genetic Markers for Preeclampsia.
Palomaki Glenn E et al. Clinical chemistry 2018 Sep - Future AAVenues for In Utero Gene Therapy.
MacKenzie Tippi C et al. Cell stem cell 2018 Sep 23(3) 320-321 - Inconclusive results in preimplantation genetic testing: go for a second biopsy?
Parriego Monica et al. Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology 2018 Sep 1-3 - Population-Based Screening for Trisomies and Atypical Chromosomal Abnormalities: Improving Efficacy using the Combined First Trimester Screening Algorithm as well as Individual Risk Parameters.
Vogel Ida et al. Fetal diagnosis and therapy 2018 Sep 1-6 - User Acceptability of Whole Exome Reproductive Carrier Testing for Consanguineous Couples in Australia.
Josephi-Taylor Sarah et al. Journal of genetic counseling 2018 Sep - Prenatal and preimplantation genetic diagnosis for single gene disorders: a population-based study from 1977 to 2016.
Poulton Alice et al. Prenatal diagnosis 2018 Sep - How do genetically disabled adults view selective reproduction? Impairment, identity, and genetic screening.
Boardman Felicity K et al. Molecular genetics & genomic medicine 2018 Sep
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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