Publication Date: Sep 21, 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. View Data Selection Criteria
Human Genomics across the Lifespan
Birth Defects and Child Health
- Acceptable applications of preimplantation genetic diagnosis (PGD) among Israeli PGD users.
Zuckerman Shachar et al. European journal of human genetics : EJHG 2017 Oct 25(10) 1113-1117 - NHGRI researchers and collaborators identify Noonan syndrome in diverse people Highly accurate facial analysis software aids diagnosis
Jeannine Mjoseth, NHGRI, Sep 15, 2017 - Epigenetic Matters: The Link between Early Nutrition, Microbiome, and Long-term Health Development.
Indrio Flavia et al. Frontiers in pediatrics 2017 5178 - Opioid crisis adds to pain of sickle cell patients
NHLBI, Sep 15, 2017 - Communicating risk with aneuploidy screening: things are never as simple as they appear to be.
Robinson Julian et al. BJOG : an international journal of obstetrics and gynaecology 2017 Sep - Clinical Utility Gene Card for hereditary angioedema with normal C1 inhibitor (HAEnC1).
Stieber Christiane et al. European journal of human genetics : EJHG 2017 Oct 25(10) - Clinical genetics of craniosynostosis.
Wilkie Andrew O M et al. Current opinion in pediatrics 2017 Sep - Comprehensive use of extended exome analysis improves diagnostic yield in rare disease: a retrospective survey in 1,059 cases.
Bergant Gaber et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Sep - CNVs affecting cancer predisposing genes (CPGs) detected as incidental findings in routine germline diagnostic chromosomal microarray (CMA) testing.
Innes Josie et al. Journal of medical genetics 2017 Sep - Genetic Counseling in Primary Immunodeficiency Disorders: An Emerging Experience in Egypt.
El Hawary Rabab E et al. Molecular diagnosis & therapy 2017 Sep
Cancer
- Randomized Controlled Trials in Hereditary Cancer Syndromes.
Ramamurthy Chethan et al. Surgical oncology clinics of North America 2017 Oct 26(4) 729-750 - Psychosocial Impact of Personalized Therapies in Oncology.
Schilling Georgia et al. Recent results in cancer research. Fortschritte der Krebsforschung. Progres dans les recherches sur le cancer 2018 210181-190 - What to Know About Lynch Syndrome,
by Kathleen Hall, US News, September 19, 2017 - When is a Little Breast Tissue Too Much?: Nipple-Sparing Risk-Reducing Mastectomy in BRCA Carriers.
Johnson Helen M et al. JAMA surgery 2017 Sep - Trends in utilization and costs of BRCA testing among women aged 18–64 years in the United States, 2003–2014
Z Chen et al Genetics in Medicine, Sep 21, 2017 - Cancer Registries: Measuring Progress. Targeting Action.
CDC You Tube Video - FDA Approval of Tisagenlecleucel Promise and Complexities of a $475 000 Cancer Drug
PB Bach et al, JAMA, Sep 20, 2017 - Large scale, prospective screening of EGFR mutations in the blood of advanced NSCLC patients to guide treatment decisions.
Mayo-de-Las-Casas C et al. Annals of oncology : official journal of the European Society for Medical Oncology 2017 Sep 28(9) 2248-2255 - MicroRNA-21 as a prognostic biomarker in patients with pancreatic cancer - A systematic review and meta-analysis.
Negoi Ionut et al. American journal of surgery 2017 Sep 214(3) 515-524 - Routine clinical use of circulating tumor cells for diagnosis of mutations and chromosomal rearrangements in non-small cell lung cancer-ready for prime-time?
Pailler Emma et al. Translational lung cancer research 2017 Aug 6(4) 444-453 - Long-Term Colorectal Cancer Incidence After Negative Colonoscopy in the State of Utah: The Effect of Family History.
Samadder N Jewel et al. The American journal of gastroenterology 2017 Sep 112(9) 1439-1447 - Oncologist use and perception of large panel next-generation tumor sequencing.
Schram A M et al. Annals of oncology : official journal of the European Society for Medical Oncology 2017 Sep 28(9) 2298-2304 - National Estimates of Genetic Testing in Women With a History of Breast or Ovarian Cancer
Childers CP, et al. Journal of Clinical Oncology August 18, 2017 - Integrating genomics into population-based cancer surveillance in the era of precision medicine
MJ Khoury and L Penberthy, CDC Blog, Sep 19, 2017 - Perspectives of Women Considering Bilateral Prophylactic Mastectomy and their Peers towards a Telephone-Based Peer Support Intervention.
St-Pierre D et al. Journal of genetic counseling 2017 Sep - Clinical utility of circulating DNA analysis for rapid detection of actionable mutations to select metastatic colorectal patients for anti-EGFR treatment.
Thierry A R et al. Annals of oncology : official journal of the European Society for Medical Oncology 2017 Sep 28(9) 2149-2159 - Somatic Mutation Analysis of Human Cancers: Challenges in Clinical Practice.
Tsongalis Gregory J et al. Journal of clinical pharmacology 2017 Oct 57 Suppl 10S60-S66 - Universal testing of colorectal cancer for deficient mismatch repair - a new era has arrived.
Clark Sue et al. Colorectal disease : the official journal of the Association of Coloproctology of Great Britain and Ireland 2017 Sep 19(9) 801-802 - Improvement of Genetic Testing for Cutaneous Melanoma in Countries With Low to Moderate Incidence: The Rule of 2 vs the Rule of 3.
Delaunay Juliette et al. JAMA dermatology 2017 Sep - Comparison of Oncotype DX With Modified Magee Equation Recurrence Scores in Low-Grade Invasive Carcinoma of Breast.
Hou Yanjun et al. American journal of clinical pathology 2017 Aug 148(2) 167-172 - The impact of a family history of prostate cancer on the prognosis and features of the disease in Korea: results from a cross-sectional longitudinal pilot study.
Lee Kwang Suk et al. International urology and nephrology 2017 Sep - Real-Time Genomic Profiling of Pancreatic Ductal Adenocarcinoma: Potential Actionability and Correlation with Clinical Phenotype.
Lowery Maeve A et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2017 Jul - Mutations in context: implications of BRCA testing in diverse populations.
Felix Gabriela E S et al. Familial cancer 2017 Sep - The McGill Interactive Pediatric OncoGenetic Guidelines: An approach to identifying pediatric oncology patients most likely to benefit from a genetic evaluation.
Goudie Catherine et al. Pediatric blood & cancer 2017 Aug 64(8) - Oncologic Safety of Prophylactic Nipple-Sparing Mastectomy in a Population With BRCA Mutations: A Multi-institutional Study.
Jakub James W et al. JAMA surgery 2017 Sep
Chronic Disease
- Knowledge, attitude and practices (KAP) of the families of b-thalassaemia children in thalassaemia centers of Rawalpindi and Islamabad, Pakistan.
Shahzad Aamir et al. JPMA. The Journal of the Pakistan Medical Association 2017 Sep 67(9) 1434-1437 - Training to Provide Psychiatric Genetic Counseling: How Does It Impact Recent Graduates' and Current Students' Readiness to Provide Genetic Counseling for Individuals with Psychiatric Illness and Attitudes towards this Population?
Low Ashley et al. Journal of genetic counseling 2017 Sep
Ethics/Policy/Law
- Take stock of research ethics in human genome editing
Nature editorial, Sep 20, 2017 - Legal issues in governing genetic biobanks: the Italian framework as a case study for the implications for citizen's health through public-private initiatives.
Piciocchi Cinzia et al. Journal of community genetics 2017 Sep - Genomic medicine and data sharing.
Raza Sobia et al. British medical bulletin 2017 Sep 123(1) 35-45 - Ethical Issues with Genetic Testing for Tay-Sachs.
Clayton Tricia et al. Journal of Christian nursing : a quarterly publication of Nurses Christian Fellowship 34(4) 246-249 - Editorial: Personalized Medicine: A Positional Point of View about Precision Medicine and Clarity for Ethics of Public Health.
Fineschi Vittorio et al. Current pharmaceutical biotechnology 2017 18(3) 192-193 - The Ethics of Germline Gene Editing.
Gyngell Christopher et al. Journal of applied philosophy 2017 Aug 34(4) 498-513 - Impact of HIPAA's minimum necessary standard on genomic data sharing.
Evans Barbara J et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Sep
Practice
- Response to "Clinical genome-wide sequencing: don't throw out the baby with the bathwater".
Wilson Brenda J et al. Journal of clinical epidemiology 2017 Sep - NIH seeks comment on proposal to update data management of genomic summary results
NIH, Sep 21, 2017 - Genetics Education for Health Professionals
ASHG, Sep 2017 - Latest Sports Giveaway—DNA Testing Kits—Is a Terrible Idea, Experts Say
J Franklin, Newsweek, Sep 19, 2017 - Editorial: Emergence of Gene-Environment Interaction Analysis in Epidemiologic Research —Í
MJ Khoury, Am J Epi, Sep 2017 - Developing a common framework for evaluating the implementation of genomic medicine interventions in clinical care: the IGNITE Network's Common Measures Working Group.
Orlando Lori A et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Sep - In search of young medical geneticists
N Gold, Boston Children's Hospital, Sep 15, 2017 - Increasing confidence and changing behaviors in primary care providers engaged in genetic counselling
MS WIlkes et al, BMC Med Ed, Sep 2017 - Integrating Genomics into Public Health Surveillance: Ushering in a New Era of Precision Public Health
MJ Khoury, CDC Blog July 2017 - Here's What Happened When A Football Team Decided To Give Out Free DNA Tests
Buzzfeed News, Sep 18, 2017 - New toolkit helps nurses use genomics in patient care
K Palmer, NHGRI, Sep 2017 - Genetic Test, Risk Prediction, and Counseling.
Wang Maggie Haitian et al. Advances in experimental medicine and biology 2017 100521-46 - Increasing confidence and changing behaviors in primary care providers engaged in genetic counselling.
Wilkes Michael S et al. BMC medical education 2017 Sep 17(1) 163 - Genomics for all in the 21st century?
Cornel Martina C et al. Journal of community genetics 2017 Sep - Medical genetics and genomics education and its impact on genomic literacy of the clinical workforce.
Hyland Katherine et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Sep - Medical genetic services in a developing country: lesson from Thailand.
Limwongse Chanin et al. Current opinion in pediatrics 2017 Sep - Gene Therapy and September Scenes
R Lewis, PLOS Blogs, Sep 2017
Cardiovascular Diseases
- Thrombophilia Testing and Venous Thrombosis
JM Connors, NEJM, Sep 20, 2017 - Death and Cardiac Arrest in U.S. Triathlon Participants, 1985 to 2016: A Case Series
KM Harris et al, Ann Int Med, Sep 2017 - Preparing Fellows for Precision Cardiology- Are We Ready?
Muthiah Vaduganathan, et al, JACC, Sep 2017 - Do you #KnowFH?
YouTube video, FH Foundation, August 2017 - CDC Cholesterol Web Portal
- Family History and Other Characteristics That Increase Risk for High Cholesterol
Newborn Screening
- Newborn Screening in the Era of Precision Medicine.
Yang Lan et al. Advances in experimental medicine and biology 2017 100547-61 - Shining new light on newborn screening of cystic fibrosis in the province of Quebec.
Khendek Léticia et al. Canadian journal of public health = Revue canadienne de sante publique 2017 Sep 108(3) e335-e337
Pharmacogenomics
- Cost-Utility Study of Warfarin Genotyping in the VACHS Affiliated Anticoagulation Clinic of Puerto Rico.
Martes-Martinez Carlos et al. Puerto Rico health sciences journal 2017 Sep 36(3) 165-172 - Pharmacogenomics Implementation at the National Institutes of Health Clinical Center.
Sissung Tristan M et al. Journal of clinical pharmacology 2017 Oct 57 Suppl 10S67-S77
Reproductive Health
- Advanced genomic testing may aid in counseling of isolated agenesis of the corpus callosum on prenatal ultrasound.
de Wit M C et al. Prenatal diagnosis 2017 Sep - Offering non-invasive prenatal testing as part of routine clinical service. Can high levels of informed choice be maintained?
Lewis Celine et al. Prenatal diagnosis 2017 Sep - CRISPR used to peer into human embryos' first days Gene-edited embryos enable researchers to unpick role of a crucial gene, with more studies likely to follow.
H Ledford, Nature News, Sep 20, 2017
News/ Reviews/Comments
- What does consent mean for Generation Genome?
By Professor Becki Bennett, BioNews, September 18, 2017
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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