Publication Date: Oct 4, 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
- First data from a parent-reported registry of 81 individuals with Coffin-Siris syndrome: Natural history and management recommendations.
Mannino Elizabeth A et al. American journal of medical genetics. Part A 2018 Oct - European guidelines for constitutional cytogenomic analysis.
Silva Marisa et al. European journal of human genetics : EJHG 2018 Oct - What is Down Syndrome?
CDC, October 2018 - Variation in the Heritability of Child Body Mass Index by Obesogenic Home Environment
MS Faith et al, JAMA Pediatrics, October 1, 2018 - New supplemental awards boost NIH funding for research on Down syndrome
NIH, October 1, 2018 - Targeted next-generation sequencing facilitates genetic diagnosis and provides novel pathogenetic insights into deafness with enlarged vestibular aqueduct.
Lin Yin-Hung et al. The Journal of molecular diagnostics : JMD 2018 Sep - Healthy Homes and Obesogenic Genes in Young Children Rigorous Behavioral Theory and Measurement and the Detection of Gene-Environment Interactions
MS Faith et al, JAMA Pediatrics, October 1, 2018 - The impact of consanguinity on the frequency of inborn errors of metabolism.
Afzal Raja Majid et al. Danish medical journal 2018 Oct 65(10) - Parental Perception and Participation in Genetic Testing Among Children With Autism Spectrum Disorders.
Harrington John W et al. Clinical pediatrics 2018 Sep 9922818803398 - Duchenne Muscular Dystrophy Care Considerations
CDC, September 2018 - Breathe Duchenne: what natural history studies tell us about the progression of pulmonary morbidity in DMD.
Mayer Oscar H et al. Neuromuscular disorders : NMD 2018 Aug
Cancer
- Learning by Example: An International Perspective on Reflex-Testing for Lynch Syndrome.
Palter Vanessa N et al. Annals of surgical oncology 2018 Oct - Trends in genetic screening referral in breast cancer patients under the age of forty: 2001-2016.
Crispin Melanie et al. The breast journal 2018 Sep - Development and pilot testing of a leaflet informing women with breast cancer about genomic testing for polygenic risk.
Kaur Rajneesh et al. Familial cancer 2018 Sep - Electronically ascertained extended pedigrees in breast cancer genetic counseling.
Stefansdottir V et al. Familial cancer 2018 Sep - Optimizing cancer immunotherapy: Is it time for personalized predictive biomarkers?
Music Milena et al. Critical reviews in clinical laboratory sciences 2018 Oct 1-14 - Systematic Review and Meta-analysis of the Prognostic Significance of miRNAs in Melanoma Patients.
Sabarimurugan Shanthi et al. Molecular diagnosis & therapy 2018 Sep - Risk perception and screening behavior of Filipino women at risk for breast cancer: implications for cancer genetic counseling.
Lagarde John Benedict B et al. Journal of community genetics 2018 Sep - The Influence of Malay Cultural Beliefs on Breast Cancer Screening and Genetic Testing: A Focus Group Study.
Shaw Tarryn et al. Psycho-oncology 2018 Sep - Experience Gained from the Development and Execution of a Multidisciplinary Multi-syndrome Hereditary Colon Cancer Family Conference.
Solomon Ilana et al. Journal of cancer education : the official journal of the American Association for Cancer Education 2018 Sep - Comprehensive Analysis of Germline Variants in Mexican Patients with Hereditary Breast and Ovarian Cancer Susceptibility.
Quezada Urban Rosalía et al. Cancers 2018 Sep 10(10) - Genetics of breast cancer in African populations: a literature review.
Abbad A et al. Global health, epidemiology and genomics 2018 3e8 - Dealing With BRCA1/2 Unclassified Variants in a Cancer Genetics Clinic: Does Cosegregation Analysis Help?
Zuntini Roberta et al. Frontiers in genetics 2018 9378 - Do cancer biomarkers make targeted therapies cost-effective? A systematic review in metastatic colorectal cancer.
Seo Mikyung Kelly et al. PloS one 2018 13(9) e0204496 - ACOG Committee Opinion No. 755: Well-Woman Visit.
et al. Obstetrics and gynecology 2018 Oct 132(4) e181-e186 - Incomplete uptake of EGFR mutation testing and its impact on estimation of mutation prevalence in patients with non-squamous NSCLC: A population-based study in New Zealand.
Tin Tin Sandar et al. Cancer epidemiology 2018 Sep 5724-32 - A Privacy Work-Around for Hereditary Cancer Testing
N Mulcahe, Medscape, September 25, 2018 - Cancer prevention: Molecular and epidemiologic consensus
M Song et al, Science, September 27, 2018 - Women's preferences, willingness-to-pay, and predicted uptake for single-nucleotide polymorphism gene testing to guide personalized breast cancer screening strategies: a discrete choice experiment.
Wong Xin Yi et al. Patient preference and adherence 2018 121837-1852 - Hereditary colorectal cancer diagnostics in southern Sweden: retrospective evaluation and future considerations with emphasis on Lynch syndrome.
Henriksson Isabelle et al. Journal of community genetics 2018 Sep - Prevalence of Variant Reclassification Following Hereditary Cancer Genetic Testing.
Mersch Jacqueline et al. JAMA 2018 320(12) 1266-1274
Chronic Disease
- One to Watch: Precision Medicine for Obesity
Conscionhealth, September 30, 2018 - Use of combinatorial pharmacogenomic guidance in treating psychiatric disorders: financial impact on a health plan.
Benitez Joachim et al. Personalized medicine 2018 Sep - Predicting Functional Outcomes in Early-Stage Mental Illness: Prognostic Precision Medicine Realized?
Voineskos Aristotle N et al. JAMA psychiatry 2018 Sep - Personalized Proteomics for Precision Health: Identifying Biomarkers of Vitreoretinal Disease.
Velez Gabriel et al. Translational vision science & technology 2018 Sep 7(5) 12 - Sarcoidosis: proteomics and new perspectives for improving personalized medicine.
Landi Claudia et al. Expert review of proteomics 2018 Sep 1-7
Ethical, Legal and Social Issues (ELSI)
- Patients v. Myriad or the GDPR Access Right v. the EU Database Right.
Bovenberg Jasper A et al. European journal of human genetics : EJHG 2018 Sep - FDA authorizes first next generation sequencing-based test to detect very low levels of remaining cancer cells in patients with acute lymphoblastic leukemia or multiple myeloma,
FDA, September 28, 2018 - Reconceptualizing harms and benefits in the genomic age.
Prince Anya Er et al. Personalized medicine 2018 Sep - Sharing data for future research-engaging participants' views about data governance beyond the original project: a DIRECT Study.
Shah Nisha et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Sep - Ethical Implications of Clinical Genomic Information, Records Research, and Informed Consent.
Lee Susannah W et al. The Ochsner journal 2018 18(3) 196-198 - Reducing the Risk of Gynecologic Cancer in Hereditary Breast Ovarian Cancer Syndrome Mutation Carriers: Moral Dilemmas and the Principle of Double Effect.
Casey Murray Joseph et al. The Linacre quarterly 2018 Aug 85(3) 225-240 - Perspectives of psychiatric investigators and IRB chairs regarding benefits of psychiatric genetics research.
Roberts Laura Weiss et al. Journal of psychiatric research 2018 Sep 10654-60
General Practice
- The NHS genomic service could transform medicine
The Economist, September 2018 - Clinicians Raise Concerns About "Precision" Public Health in the Era of Genomics,
by Laura Ranger, Medical Bag, September 25, 2018 - Need for Automated Interactive Genomic Interpretation and Ongoing Reanalysis
M Sarmadi et al, JAMA Pediatrics, October 1, 2018 - Take a Deep Breath and Say Hi to Your Exposome Researchers begin to explore the unique cloud of airborne microbes and chemicals that surrounds each of us
Scientific American, September 27, 2018 - The importance of genetic counselling in genome-wide sequencing
AM Elliot et al, October 3, 2018 - NIH-funded genome centers to accelerate precision medicine discoveries,
NIH, September 25, 2018 - Evaluating the current state of Mendelian randomization studies: a protocol for a systematic review on methodological and clinical aspects using neurodegenerative disorders as outcome.
Grover Sandeep et al. Systematic reviews 2018 Sep 7(1) 145 - Too much of a good thing? Overdiagnosis, or overestimating risk in preventive genomic screening.
Meagher Karen M et al. Personalized medicine 2018 Sep - Precision medicine and clinical ophthalmology.
Straatsma Bradley R et al. Indian journal of ophthalmology 2018 Oct 66(10) 1389-1390 - The Patient in Precision Medicine: A Systematic Review Examining Evaluations of Patient-Facing Materials.
Wynn Rachel M et al. Journal of healthcare engineering 2018 20189541621 - Exploring neurologists' perspectives on the return of next generation sequencing results to their patients: a needed step in the development of guidelines.
Hurlimann Thierry et al. BMC medical ethics 2018 Sep 19(1) 81 - Wellcome Sanger Institute at 25: how the genomic revolution is changing medicine
Wellcome Sanger, September 2018 - Direct to Consumer Fitness DNA Testing
EG Spencer et al, Clin Chem, October 2018 - Genomics research in Africa and its impact on global health: insights from African researchers.
Munung N S et al. Global health, epidemiology and genomics 2018 3e12 - Precision medicine for individual patients should use population group averages and larger, not smaller, groups.
Djulbegovic Benjamin et al. European journal of clinical investigation 2018 Sep e13031
Heart, Lung, Blood and Sleep Diseases
- Genetic architecture of recent-onset dilated cardiomyopathy in Moravian region assessed by whole-exome sequencing and its clinical correlates.
Chaloupka Anna et al. Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia 2018 Sep - Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.
Klarin Derek et al. Nature genetics 2018 Oct - Recall by genotype and cascade screening for familial hypercholesterolemia in a population-based biobank from Estonia.
Alver Maris et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Oct - Clinical and genetic characteristics of familial hypercholesterolemia patients with type 2 diabetes.
Sun D et al. Journal of endocrinological investigation 2018 Oct - Knowledge, awareness and practice regarding familial hypercholesterolaemia among primary care physicians in Malaysia: The importance of professional training.
Azraii Ahmad Baihaqi et al. Atherosclerosis 2018 Oct 277508-516 - Latvian registry of familial hypercholesterolemia: The first report of three-year results.
Latkovskis Gustavs et al. Atherosclerosis 2018 Oct 277347-354 - Treatment pattern of familial hypercholesterolemia in Slovakia: Targets, treatment and obstacles in common practice.
Vohnout Branislav et al. Atherosclerosis 2018 Oct 277323-326 - Universal screening for familial hypercholesterolemia in children: The Slovenian model and literature review.
Groselj Urh et al. Atherosclerosis 2018 Oct 277383-391 - Lipid-modifying therapy and low-density lipoprotein cholesterol goal attainment in patients with familial hypercholesterolemia in Germany: The CaReHigh Registry.
Schmidt Nina et al. Atherosclerosis 2018 Oct 277314-322 - Special Issue Section: Improving the Global Care of Familial Hypercholesterolaemia : the FHSC Perspective.
Atherosclerosis 2018 Oct - Clinical utility of the polygenic LDL-C SNP score in familial hypercholesterolemia.
Futema Marta et al. Atherosclerosis 2018 Oct 277457-463 - Evaluation of the performance of Dutch Lipid Clinic Network score in an Italian FH population: The LIPIGEN study.
Casula Manuela et al. Atherosclerosis 2018 Oct 277413-418 - The development of the Mexican Familial Hypercholesterolemia (FH) National Registry.
Mehta Roopa et al. Atherosclerosis 2018 Oct 277517-523 - Screening for familial hypercholesterolaemia in primary care: Time for general practice to play its part.
Brett Tom et al. Atherosclerosis 2018 Oct 277399-406 - Health related quality of life in individuals at high risk for familial hypercholesterolemia undergoing genetic cascade screening in Brazil.
Souto Ana Cristina et al. Atherosclerosis 2018 Oct 277464-469 - Using clinical and genetic data to predict pulmonary hypertension in bronchopulmonary dysplasia.
Trittmann J K et al. Acta paediatrica (Oslo, Norway : 1992) 2018 Sep - Blood, sweat, and tears: Red Blood Cell-Omics study objectives, design, and recruitment activities.
Endres-Dighe Stacy M et al. Transfusion 2018 Sep - Familial hypercholesterolemia screening program in Bosnia and Herzegovina and cardiovascular morbidity.
Pojskic Lamija et al. Atherosclerosis 2018 Oct 277278-281 - Familial hypercholesterolemia treatments: Guidelines and new therapies.
Raal Frederick J et al. Atherosclerosis 2018 Oct 277483-492 - Precision/Personalized Medicine in Allergic Diseases and Asthma.
Kucuksezer Umut Can et al. Archivum immunologiae et therapiae experimentalis 2018 Sep - These Cholesterol-Reducers May Save Lives. So Why Aren’t Heart Patients Getting Them?
G Kolata, NY Times, October 2, 2018 - Genetic Testing and Familial Hypercholesterolemia
The FH Foundation, 2018 - Can two-dimensional speckle tracking echocardiography be useful for left ventricular assessment in the early stages of hereditary haemochromatosis?
Rozwadowska Katarzyna et al. Echocardiography (Mount Kisco, N.Y.) 2018 Sep
Newborn Screening
- Reliability of the current newborn screening action value for beta thalassaemia disease detection in England: A prospective study.
Daniel Yvonne et al. Journal of medical screening 2018 Sep 969141318797373 - Clinical outcomes in U.S. infants with cystic fibrosis from 2001 to 2012.
Hoch Heather et al. Pediatric pulmonology 2018 Sep - Newborn Screening for Severe Combined Immunodeficiency: Analytic and Clinical Performance of the T Cell Receptor Excision Circle Assay in France (DEPISTREC Study).
Audrain Marie A P et al. Journal of clinical immunology 2018 Sep - Detecting 22q11.2 Deletion Syndrome in Newborns with Low T Cell Receptor Excision Circles from Severe Combined Immunodeficiency Screening.
Liao Hsuan-Chieh et al. The Journal of pediatrics 2018 Sep
Pharmacogenomics
- The Implementation Process for Pharmacogenomic Testing for Cancer-Targeted Therapies.
Wu Ann Chen et al. Journal of personalized medicine 2018 Oct 8(4) - Economic burden of adverse drug reactions and potential for pharmacogenomic testing in Singaporean adults.
Chan Sze Ling et al. The pharmacogenomics journal 2018 Sep - Pharmacogenomic landscape of patient-derived tumor cells informs precision oncology therapy.
Lee Jin-Ku et al. Nature genetics 2018 Oct 50(10) 1399-1411 - Pharmacogenetic content of commercial genome-wide genotyping arrays.
Lemieux Perreault Louis-Philippe et al. Pharmacogenomics 2018 Oct - Companies Tout Psychiatric Pharmacogenomic Testing, But Is It Ready for a Store Near You?
J Abbasi, JAMA, October 3, 2018 - In the race to use genetic tests to predict whether antidepressants will work, science might be getting left behind
R Robbins, StatNews, September 28, 2018 - Pharmacogenomics of Vincristine-Induced Peripheral Neuropathy: Progress Continues.
Diouf Barthelemy et al. Clinical pharmacology and therapeutics 2018 Sep
Reproductive Health
- Fetal fraction evaluation in non-invasive prenatal screening (NIPS).
Hestand Matthew S et al. European journal of human genetics : EJHG 2018 Sep - Role of mesenchymal stem cells exosomes derived microRNAs; miR-136, miR-494 and miR-495 in pre-eclampsia diagnosis and evaluation.
Motawi Tarek M K et al. Archives of biochemistry and biophysics 2018 Sep 65913-21 - Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples.
Zhao Sumin et al. European journal of human genetics : EJHG 2018 Oct - The choice for invasive prenatal tests after subfertility.
Hendrix Manouk et al. Human fertility (Cambridge, England) 2018 Sep 1-8 - "A perfect society"- Swedish policymakers' ethical and social views on preconception expanded carrier screening.
Matar Amal et al. Journal of community genetics 2018 Sep - Genetic evaluation of patients with non-syndromic male infertility.
Okutman Ozlem et al. Journal of assisted reproduction and genetics 2018 Sep - Changes in the Detection and Management of Foetal Trisomies over Time.
Prodan Natalia et al. Geburtshilfe und Frauenheilkunde 2018 Sep 78(9) 853-858 - Population-based trends in the prenatal diagnosis of sex chromosome aneuploidy before and after non-invasive prenatal testing.
Howard-Bath Allanah et al. Prenatal diagnosis 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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