Publication Date: Jun 15, 2017
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.
Human Genomics across the Lifespan
Birth Defects and Child Health
- A Guideline for the Diagnosis of Pediatric Mitochondrial Disease: The Value of Muscle and Skin Biopsies in the Genetics Era.
Wortmann Saskia B et al. Neuropediatrics 2017 Jun - Precision Dentistry in Early Childhood: The Central Role of Genomics.
Divaris Kimon et al. Dental clinics of North America 2017 Jul 61(3) 619-625 - Salivary protein polymorphisms and risk of dental caries: a systematic review.
Lips Andrea et al. Brazilian oral research 2017 Jun 31e41 - Factors associated with changes in health-related quality of life in children with cystic fibrosis during 1-year follow-up.
van Horck Marieke et al. European journal of pediatrics 2017 Jun - The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Monies Dorota et al. Human genetics 2017 Jun - Why we don't know what causes most birth defects
The Conversation, June 2017 - Mendel,MD: A user-friendly open-source web tool for analyzing WES and WGS in the diagnosis of patients with Mendelian disorders.
G C C L Cardenas Raony et al. PLoS computational biology 2017 Jun 13(6) e1005520 - Molecular diagnostics for hereditary hearing loss in children.
Sommen Manou et al. Expert review of molecular diagnostics 2017 Jun - Science didn't understand my kids' rare disease until I decided to study it
S Terry, TedMed Talk, 2017 - Family experience with osteogenesis imperfecta type 1: the most distressing situations.
Santos Margarida Custódio Dos et al. Disability and rehabilitation 2017 Jun 1-7 - Design, Validation, and Clinical Implementation of a Gap-Polymerase Chain Reaction Method for α-Thalassemia Genotyping Using Capillary Electrophoresis.
Basha Basma et al. Hemoglobin 2017 Jun 1-7
Cancer
- Cancer Precision Medicine: Why More Is More and DNA Is Not Enough.
Schütte Moritz et al. Public health genomics 2017 Jun - Assessing Breast Cancer Risk Estimates Based on the Gail Model and Its Predictors in Qatari Women.
Bener Abdulbari et al. Journal of primary care & community health 2017 Jul 8(3) 180-187 - Cancer Drug Proves to Be Effective Against Multiple Tumors
G Kolata, New York Times, June 8, 2017 - Disparities in compliance with the Oncotype DX breast cancer test in the United States: A National Cancer Data Base assessment.
Kozick Zachary et al. American journal of surgery 2017 Jun - Genetic mutations predict patient response to immunotherapy
Science Mag, June 8, 2017 - All in the Family: The Importance of Talking About Hereditary Cancer
K Kosko, Cure magazine, June 2017 - Quantifying the Benefits of Genome-Driven Oncology.
Schram Alison M et al. Cancer discovery 2017 Jun 7(6) 552-554 - A single visit multidisciplinary model for managing patients with mutations in moderate and high-risk genes in a community practice setting.
O'Leary Michael P et al. Familial cancer 2017 Jun - Colonoscopic surveillance - a cost-effective method to prevent hereditary and familial colorectal cancer.
Sjöström Olle et al. Scandinavian journal of gastroenterology 2017 Jun 1-6 - An update on genomic-guided therapies for pediatric solid tumors.
Tsui Pui Chi et al. Future oncology (London, England) 2017 Jun - Combined immune checkpoint blockade as a therapeutic strategy for BRCA1-mutated breast cancer.
Nolan Emma et al. Science translational medicine 2017 Jun 9(393) - Genomic Study Seeks Clues to Help Explain Breast Cancer Disparities
NCI, June 13, 2017 - Clinical Impact of Mismatch Repair Protein Testing on Outcome of Early Staged Colorectal Carcinomas.
Gandhi Jatin Sundersham et al. Journal of gastrointestinal cancer 2017 Jun - Genetic status determines (18) F-FDG uptake in pheochromocytoma/paraganglioma.
Tiwari Ankita et al. Journal of medical imaging and radiation oncology 2017 Jun - A prospective pilot study of genome-wide exome and transcriptome profiling in patients with small cell lung cancer progressing after first-line therapy.
Weiss Glen J et al. PloS one 2017 12(6) e0179170 - Genetic predisposition to hematologic malignancies: management and surveillance.
Godley Lucy A et al. Blood 2017 Jun - Biomarker Test Could Reduce Unnecessary Biopsies to Detect Prostate Cancer
NCI, June 9, 2017 - Regarding the Clinical Practice Guidelines for the Surgical Treatment of Patients With Lynch Syndrome.
Church James Michael et al. Diseases of the colon and rectum 2017 Jul 60(7) e595-e596 - Evaluation of the "Angelina Jolie Effect" on Screening Mammography Utilization in an Academic Center.
Huesch Marco D et al. Journal of the American College of Radiology : JACR 2017 Jun - Performance of BRCA1/2 mutation prediction models in male breast cancer patients.
Moghadasi Setareh et al. Clinical genetics 2017 Jun - Clinical outcomes of female breast cancer according to BRCA mutation status.
Cronin-Fenton Deirdre P et al. Cancer epidemiology 2017 Jun 49128-137 - Familial Adenomatous Polyposis Registry in Czech Republic - History, Present and Future.
Cyrany Jirí et al. Acta medica (Hradec Kralove) 2017 60(1) 55-57 - Multi-disciplinary summit on genetics services for women with gynecologic cancers: A Society of Gynecologic Oncology White Paper.
Randall Leslie M et al. Gynecologic oncology 2017 Jun - Epigenetic Signature: A New Player as Predictor of Clinically Significant Prostate Cancer (PCa) in Patients on Active Surveillance (AS).
Ferro Matteo et al. International journal of molecular sciences 2017 May 18(6) - New blood test uses nanotechnology to predict aggressive prostate cancer accurately
Science Mag, June 9, 2017 - Genomic Analysis of Plasma Cell-Free DNA in Patients With Cancer
GR Oxnard et al, JAMA Oncology, June 2017 - FDA Approves First Cancer Drug Based on Genetics… Not Tumor Location
R Stoller, National Foundation for Cancer Research. June 9, 2017 - The NCI Genomic Data Commons as an engine for precision medicine.
Jensen Mark A et al. Blood 2017 Jun - [Making better use of the clinical geneticist's expertise; treating physician could request a DNA test for most cancer patients].
Aalfs C M et al. Nederlands tijdschrift voor geneeskunde 2017 161(0) D1525 - Evaluating the NCCN Clinical Criteria for Recommending BRCA1 and BRCA2 Genetic Testing in Patients With Breast Cancer.
Cropper Caiqian et al. Journal of the National Comprehensive Cancer Network : JNCCN 2017 Jun 15(6) 797-803 - Precision Oncology Based on Omics Data: The NCT Heidelberg Experience.
Horak Peter et al. International journal of cancer 2017 Jun
Chronic Diseases
- It's Loud Out There: Hearing Health across the Lifespan
CDC Public Health Grand Rounds, June 20, 2017 - Scientists Map DNA Damage Caused by Smoking
Science Magazine, June 13, 2017
Ethics, Policy and Law
- Ethical considerations in genomic testing for hematologic disorders.
Marron Jonathan M et al. Blood 2017 Jun - 'Not everyone wants to know': Warnings over genetic tests,
by Andrea Nierhoff, SBS, June 12, 2017
Genomics in Practice
- Ethics, big data and computing in epidemiology and public health.
Salerno Jennifer et al. Annals of epidemiology 2017 May 27(5) 297-301 - Medical genetics and genomics education: how do we define success? Where do we focus our resources?
RL Bennet et al, Genetics in Medicine, June 15, 2017 - NIH Launches Personalized Medicine Initiative Beta Phase,
by Marcia Frellick, Medscape, June 7, 2017 - The dangers of mail-in genetic testing
D Munroe, Macleans, June 2017 - Genomics and Health Disparities Lecture Series
National Human Genome Research Institute - Collaborative Research: An Advanced Practice Nurse's Experience in Genome Research and Treatment.
Barnby Elizabeth et al. Clinical nurse specialist CNS 31(4) 191-194 - The African American Sequencing Project
23andme research blog, June 12, 2017 - A CRISPR New World: Attitudes in the Public toward Innovations in Human Genetic Modification.
Weisberg Steven M et al. Frontiers in public health 2017 5117 - Beliefs about Genetically Targeted Care in African Americans.
Halbert Chanita Hughes et al. Journal of the National Medical Association 109(2) 98-106 - Young people's awareness on biobanking and DNA profiling: results of a questionnaire administered to Italian university students.
Tozzo Pamela et al. Life sciences, society and policy 2017 Dec 13(1) 9 - Consumer Perspectives on Access to Direct-to-Consumer Genetic Testing: Role of Demographic Factors and the Testing Experience.
Gollust Sarah E et al. The Milbank quarterly 2017 Jun 95(2) 291-318
Cardiovascular Diseases
- Pulmonary arterial hypertension: Specialists' knowledge, practices, and attitudes of genetic counseling and genetic testing in the USA.
Jacher Joseph E et al. Pulmonary circulation 7(2) 372-383 - Genetic Testing in the Evaluation of Unexplained Cardiac Arrest: From the CASPER (Cardiac Arrest Survivors With Preserved Ejection Fraction Registry).
Mellor Greg et al. Circulation. Cardiovascular genetics 2017 Jun 10(3) - Attitudes, knowledge and consequences of uncertain genetic findings in hypertrophic cardiomyopathy.
Burns Charlotte et al. European journal of human genetics : EJHG 2017 Jun 25(7) 809-815
Newborn Screening
- Policy brief: Improve coverage of newborn genetic screening to include the Recommended Uniform Screening Panel and newborn screening registry.
Starkweather Angela et al. Nursing outlook 2017 May
Reproductive Health
- Chromosomal microarray as a primary diagnostic genomic tool for pregnancies defined as being at increased risk within a population based combined first-trimester screening program.
Vogel Ida et al. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2017 Jun - ACOG Clinical Guidelines at a Glance: Prenatal diagnostic testing for genetic disorder,
by Joe Leigh Simpson, MD, Modern Medicine Network, June 15, 2017 - Educational needs of nurses to provide genetic services in prenatal care: A cross-sectional study from Turkey.
Seven Memnun et al. Nursing & health sciences 2017 Jun - Reproductive outcome following pre-implantation genetic diagnosis (PGD) in the UK.
Sharpe Abigail et al. Human fertility (Cambridge, England) 2017 Jun 1-8 - Expanded carrier screening: what determines intended participation and can this be influenced by message framing and narrative information?
Voorwinden Jan S et al. European journal of human genetics : EJHG 2017 Jun 25(7) 793-800
Pharmacogenomics
- Availability of CYP2D6 genotyping results in general practitioner and community pharmacy medical records.
Simoons Mirjam et al. Pharmacogenomics 2017 Jun - On the readiness of physicians for pharmacogenomics testing: an empirical assessment.
Amara N et al. The pharmacogenomics journal 2017 Jun - Cost-effectiveness of pharmacogenetic-guided treatment: are we there yet?
Verbelen M et al. The pharmacogenomics journal 2017 Jun - Development and Initial Assessment of a Patient Education Video about Pharmacogenetics.
Mills Rachel et al. Journal of personalized medicine 2017 May 7(2) - Clinical and educational impact of pharmacogenomics testing: a case series from the INGENIOUS trial.
Pierson Rebecca C et al. Pharmacogenomics 2017 Jun - Tailoring of recommendations to reduce serious cutaneous adverse drug reactions: a pharmacogenomics approach.
Tan-Koi Wei Chuen et al. Pharmacogenomics 2017 Jun - Clinical Trial Designs to Support Clinical Utility of Pharmacogenomic Testing.
Drozda Katarzyna et al. Pharmacotherapy 2017 Jun - Pharmacogenomics in Asia: a systematic review on current trends and novel discoveries.
Ang Hazel Xiaohui et al. Pharmacogenomics 2017 Jun - The experience of physicians in pharmacogenomic clinical decision support within eight German university hospitals.
Hinderer Marc et al. Pharmacogenomics 2017 Jun - Integrating clinical decision support systems for pharmacogenomic testing into clinical routine - a scoping review of designs of user-system interactions in recent system development.
Hinderer Marc et al. BMC medical informatics and decision making 2017 Jun 17(1) 81
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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