Publication Date: Sep 27, 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
- Polygenic Scores for Neuropsychiatric Traits and White Matter Microstructure in the Pediatric Population.
Jansen Philip R et al. Biological psychiatry. Cognitive neuroscience and neuroimaging 2018 Aug - The NIH Undiagnosed Diseases Network expands
NIH News, September 234, 2018 - The global prevalence of Wilson disease from next-generation sequencing data.
Gao Jiali et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Sep - A survey of undetected, clinically relevant chromosome abnormalities when replacing postnatal karyotyping by Whole Genome Sequencing.
Hochstenbach Ron et al. European journal of medical genetics 2018 Sep - Comprehensive screening shows that mutations in the known syndromic genes are rare in infants presenting with hyperinsulinaemic hypoglycaemia.
Laver Thomas W et al. Clinical endocrinology 2018 Aug - Solving the genome puzzle: With advances in gene technology helping to diagnose very rare diseases, has the new era of personalised medicine finally arrived?
L Geddes, The Guardian, September 21, 2018 - New Tourette Disorder Genes Come to Light
M Solis, UCSF, September 25, 2018 - Direct health-care costs for children diagnosed with genetic diseases are significantly higher than for children with other chronic diseases.
Marshall Deborah A et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Sep - A Comprehensive Genetic and Clinical Evaluation of Waardenburg Syndrome Type II in a Set of Iranian Patients.
Jalilian Nazanin et al. International journal of molecular and cellular medicine 2018 7(1) 17-23 - Screening for Fabry disease and hereditary ATTR amyloidosis in idiopathic small fiber and mixed neuropathy.
Samuelsson Kristin et al. Muscle & nerve 2018 Sep - The UK guidelines for management and surveillance of Tuberous Sclerosis Complex.
Amin S et al. QJM : monthly journal of the Association of Physicians 2018 Sep - The genetic factors contributing to hypospadias and their clinical utility in its diagnosis.
Joodi Marjan et al. Journal of cellular physiology 2018 Sep - Systematic review of progressive familial intrahepatic cholestasis.
Baker Alastair et al. Clinics and research in hepatology and gastroenterology 2018 Sep - The role of genomic approaches in diagnosis and management of primary immunodeficiency.
Chinn Ivan K et al. Current opinion in pediatrics 2018 Sep
Cancer
- The DNA detectives who are hunting the causes of cancer
K Arney, Mosaic, CNN, September 25, 2018 - Clinical utility of reflex testing using focused next-generation sequencing for management of patients with advanced lung adenocarcinoma.
Miller Tyler E et al. Journal of clinical pathology 2018 Sep - Cascade Genetic Testing of Relatives for Hereditary Cancer Risk: Results of an Online Initiative.
Caswell-Jin Jennifer L et al. Journal of the National Cancer Institute 2018 Sep - Genetic testing: Not a one-and-done deal- Cancer-related gene variations are frequently reclassified
Science Daily, September 25, 2018 - Eight of 10 people with cancer risk genes don't know it
Eureka Alert, Yale University, September 21, 2018 - Provider's Perceptions of Barriers and Facilitators for Latinas to Participate in Genetic Cancer Risk Assessment for Hereditary Breast and Ovarian Cancer.
Hurtado-de-Mendoza Alejandra et al. Healthcare (Basel, Switzerland) 2018 Sep 6(3) - The Cost of Ovarian Cancer Prevention- Seven years ago, I was diagnosed with Lynch syndrome, a hereditary cancer condition which significantly increases my chances of developing early-onset cancer.
G Hurst, Cure Magazine, September 24, 2018 - Population-based genetic testing of asymptomatic women for breast and ovarian cancer susceptibility.
Rowley Simone M et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Sep - Breast cancer histopathology is predictive of low-risk Oncotype Dx recurrence score.
Wilson Parker C et al. The breast journal 2018 Sep - In Their Own Words: A Qualitative Study of Kenyan Breast Cancer Survivors' Knowledge, Experiences, and Attitudes Regarding Breast Cancer Genetics.
Lee Siwon et al. Journal of global oncology 2018 Sep (4) 1-9 - How Should Genetic Counseling for Ovarian Cancer Be Implemented in a Middle-Income Country? An Insight Based on the Brazilian Scenario.
Koike Folgueira Maria Aparecida Azevedo et al. Journal of global oncology 2018 Sep (4) 1-3 - Lack of Access to Targeted Cancer Treatment Modalities in the Developing World in the Era of Precision Medicine: Real-Life Lessons From Bosnia.
Kurtovic-Kozaric Amina et al. Journal of global oncology 2018 Sep (4) 1-5 - Raising Awareness of BRCA Mutations,
by Susan Gubar, New York Times, September 20, 2018 - Training the 21st century cancer epidemiologist
T Lam et al, J Cancer Education, September 2018 - Making Sense of the Genome Remains a Work in Progress
W Burke, JAMA September 25, 2018 - Exome Sequencing–Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants
K Manickam et al, JAMA Network Open, September 21, 2018 - I had a mastectomy to lessen my risk of breast cancer. Does new science say that was a mistake?
S Zupello, The Future, September 20, 2018 - Barriers to Lynch Syndrome Testing and Preoperative Result Availability in Early-onset Colorectal Cancer: A National Physician Survey Study.
Noll Alan et al. Clinical and translational gastroenterology 2018 Sep 9(9) 185 - New Approaches to the Management of Adult Acute Lymphoblastic Leukemia.
Bassan Renato et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2018 Sep JCO2017773648 - Population based germline testing for primary cancer prevention.
Manchanda Ranjit et al. Oncotarget 2018 Sep 9(69) 33062-33063 - Prevalence of Variant Reclassification Following Hereditary Cancer Genetic Testing
J Mersch et al, JAMA, September 25, 2018 - Next Generation Sequencing of the cellular and liquid fraction of pancreatic cyst fluid supports discrimination of IPMN from pseudocysts and reveals cases with multiple mutated driver clones - first findings from the prospective ZYSTEUS biomarker study.
Volckmar Anna-Lena et al. Genes, chromosomes & cancer 2018 Sep - Targeted Next Generation Sequencing of MLH1 , MSH2 , and MSH6 Genes in Patients with Endometrial Carcinoma <50 Years of Age.
Özdemir Taha Resid et al. Balkan medical journal 2018 Sep - Validation of the 21-gene test as a predictor of clinical response to neoadjuvant hormonal therapy for ER+, HER2-negative breast cancer: the TransNEOS study.
Iwata Hiroji et al. Breast cancer research and treatment 2018 Sep - Promoting guideline-based cancer genetic risk assessment for hereditary breast and ovarian cancer in ethnically and geographically diverse cancer survivors: Rationale and design of a 3-arm randomized controlled trial.
Kinney Anita Y et al. Contemporary clinical trials 2018 Sep 73123-135 - Diagnosis and clinical behavior in patients with Lynch-like syndrome.
Adán-Merino L et al. Revista de gastroenterologia de Mexico 2018 Sep
Chronic Disease
- Renal Genetics in Australia: Kidney Medicine in the Genomic Age.
Jayasinghe Kushani et al. Nephrology (Carlton, Vic.) 2018 Sep - Genomic study brings us closer to precision medicine for type 2 diabetes
Broad Institute, September 21, 2018 - A UK nationwide prospective study of treatment change in MODY: genetic subtype and clinical characteristics predict optimal glycaemic control after discontinuing insulin and metformin.
Shepherd Maggie H et al. Diabetologia 2018 Sep - A Global Overview of Precision Medicine in Type 2 Diabetes.
Fitipaldi Hugo et al. Diabetes 2018 Oct 67(10) 1911-1922 - High rates of variation in HLA-DQ2/DQ8 testing for coeliac disease: results from an RCPAQAP pilot program.
Horan Martin Patrick et al. Journal of clinical pathology 2018 Oct 71(10) 900-905 - Type 2 diabetes genetic loci informed by multi-trait associations point to disease mechanisms and subtypes: A soft clustering analysis.
Udler Miriam S et al. PLoS medicine 2018 Sep 15(9) e1002654
Ethical, Legal and Social Issues (ELSI)
- Workplace Wellness Programs: Educating Patients and Families About Discrimination Via Disclosure of Genetic Information.
Steck Mary Beth et al. Clinical journal of oncology nursing 2018 Oct 22(5) 496-499 - Race, Ancestry, and Reporting in Medical Journals
RS Cooper et al, JAMA September 24, 2018 - Shortcut to success? Negotiating genetic uniqueness in global biomedicine.
Tarkkala Heta et al. Social studies of science 2018 Sep 306312718801165
General Practice
- The Future of Electronic Health Records
Stanford Medicine White Paper, September 2018 - The Road Less Traveled: Genomic Epidemiology Capacity in State Public Health Programs
MJ Khoury et al, CDC Blog, September 24, 2018 - Precision public health-the Emperor's new clothes.
Taylor-Robinson David et al. International journal of epidemiology 2018 Sep - Should Electronic Health Record-Derived Social and Behavioral Data Be Used in Precision Medicine Research?
Hollister Brittany et al. AMA journal of ethics 2018 Sep 20(9) E873-880 - Why Does the Shift from "Personalized Medicine" to "Precision Health" and "Wellness Genomics" Matter?
Juengst Eric T et al. AMA journal of ethics 2018 Sep 20(9) E881-890 - How Should Primary Care Physicians Respond to Direct-to-Consumer Genetic Test Results?
Brothers Kyle B et al. AMA journal of ethics 2018 Sep 20(9) E812-818 - Mendelian Randomization Studies of Coffee and Caffeine Consumption.
Cornelis Marilyn C et al. Nutrients 2018 Sep 10(10) - What is the impact on health care of genome editing?
C Gallagher, Mayo Clinic Individualizing Medicine Blog, September 24, 2018 - The Evolution of Public Health Genomics: Exploring Its Past, Present, and Future.
Molster Caron M et al. Frontiers in public health 2018 6247 - Dynamic Human Environmental Exposome Revealed by Longitudinal Personal Monitoring
C Jiang et al, Cell, September 2018 - Pharmacogenomics/Updated for precision medicine in dermatology.
Do Le Hanh Dung et al. The Journal of dermatological treatment 2018 Sep 1-18 - Parents' attitudes toward consent and data sharing in biobanks: A multisite experimental survey.
Antommaria Armand H Matheny et al. AJOB empirical bioethics 2018 Sep 1-15 - Examining How Race, Ethnicity, and Ancestry Data Are Used in Biomedical Research
VL Bonham ret al, JAMA, September 24, 2018 - Factors influencing NCGENES research participants' requests for non-medically actionable secondary findings.
Roche Myra I et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Sep - Precision medicine in clinical practice.
Khatry Deepak B et al. Personalized medicine 2018 Sep - The Precision Portrait.
Rodriguez Samuel et al. AMA journal of ethics 2018 Sep 20(9) E891-893 - What Precision Medicine Can Learn from Rare Genetic Disease Research and Translation.
Tabor Holly K et al. AMA journal of ethics 2018 Sep 20(9) E834-840
Heart, Lung, Blood and Sleep Diseases
- Pregnant? Learn about blood clots.
- Direct-to-consumer carrier screening for cystic fibrosis via a hospital website: a 6-year evaluation.
Holtkamp Kim C A et al. Journal of community genetics 2018 Sep - The clinical impact of glucose-6-phosphate dehydrogenase deficiency in patients with sickle cell disease.
Karafin Matthew S et al. Current opinion in hematology 2018 Sep - Cost-Effectiveness and Budget Impact of Lumacaftor/Ivacaftor in the Treatment of Cystic Fibrosis.
Vadagam Pratyusha et al. Journal of managed care & specialty pharmacy 2018 Oct 24(10) 987-997 - Is There a Role for Genes in Exercise-Induced Atrial Cardiomyopathy?
Fatkin Diane et al. Heart, lung & circulation 2018 Sep 27(9) 1093-1098 - Sudden Cardiac Death in Athletes.
Sweeting Joanna et al. Heart, lung & circulation 2018 Sep 27(9) 1072-1077 - An update on the pathogenesis and diagnosis of Diamond-Blackfan anemia.
Da Costa Lydie et al. F1000Research 2018 7 - Atrial Fibrillation Fact Sheet
CDC Fact Sheet - Association Between Family History and Early-Onset Atrial Fibrillation Across Racial and Ethnic Groups
Z Alzaharani et al, JAMA Network Open, September 21, 2018 - Description of criteria for near miss in high-complexity obstetric population with sickle cell anemia: an observational study.
Burgos Luna Juan Manuel et al. The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2018 Sep 1-6 - Mind the Gap: Genetic Variation and Personalized Therapies for Cardiomyopathies.
Zhang Yichi et al. Lifestyle genomics 2018 Sep 1-3 - Reduced phenotypic expression in genetic hemochromatosis with time: role of exposure to nongenetic modifiers.
Deugnier Yves et al. Journal of hepatology 2018 Sep
Newborn Screening
- Newborn Screening and Health Communications.
Evans Adrianna et al. Genetic testing and molecular biomarkers 2018 Sep 22(9) 507-508 - International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome.
Parini Rossella et al. Acta paediatrica (Oslo, Norway : 1992) 2018 Sep
Pharmacogenomics
- Pharmacogenomics of Alzheimer's and Parkinson's diseases.
Cacabelos Ramón et al. Neuroscience letters 2018 Sep - An interdigitated electrode biosensor platform for rapid HLA-B*15:02 genotyping for prevention of drug hypersensitivity.
Soraya Gita V et al. Biosensors & bioelectronics 2018 Jul 111174-183
Reproductive Health
- Prenatal genetic carrier screening in the genomic age.
Gregg Anthony R et al. Seminars in perinatology 2018 Jul - Industry perspectives on prenatal genetic testing.
Swanson Amy et al. Seminars in perinatology 2018 Jul - Status of preimplantation genetic testing and embryo selection.
Munné Santiago et al. Reproductive biomedicine online 2018 Aug - Health professionals' and researchers' perspectives on prenatal whole genome and exome sequencing: 'We can't shut the door now, the genie's out, we need to refine it'.
Horn Ruth et al. PloS one 2018 13(9) e0204158 - A systematic review and standardized clinical validity assessment of male infertility genes
MS Oud et al, BioRXIV, September 2018 - The evolving landscape of expanded carrier screening: challenges and opportunities.
Kraft Stephanie A et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Sep - Determinants associated with making prenatal screening decisions in a national study.
Bakst Shelly et al. Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology 2018 Sep 1-8 - Service provision of non-invasive prenatal testing for Down syndrome in public and private healthcare sectors: a qualitative study with obstetric providers.
Ngan Olivia Miu Yung et al. BMC health services research 2018 Sep 18(1) 731 - Attitudes to prenatal screening among Norwegian citizens: liberality, ambivalence and sensitivity.
Magelssen Morten et al. BMC medical ethics 2018 Sep 19(1) 80 - Expanded carrier screening: A current perspective.
Mastantuoni Enrica et al. European journal of obstetrics, gynecology, and reproductive biology 2018 Sep 23041-54
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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