Publication Date: Apr 26, 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
- Gene Therapy in Patients with Transfusion-Dependent β-Thalassemia.
Thompson Alexis A et al. The New England journal of medicine 2018 378(16) 1479-1493 - Clinical Utility Gene Card For: GALNT3 defective congenital disorder of glycosylation.
Jaeken Jaak et al. European journal of human genetics : EJHG 2018 Apr - A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience.
Rama Mélanie et al. European journal of human genetics : EJHG 2018 Apr - [Genetic heterogeneity and complexity of congenital heart defects].
Nagy Dóra et al. Orvosi hetilap 2018 Apr 159(17) 661-670 - Minor operations: Genetic testing for children and adolescents presents complex ethical issues
L Beil, Genome Magazine, Apr 2018 - Autistic children may inherit DNA mutations from their fathers
M Warren, Science, Apr 19, 2018 - Protein therapy in the womb overrides genetic glitch hampering teeth development, ability to sweat
R Lewis, Genetic Literacy Project, Apr 25, 2018 - Gene Therapy as a Curative Option for β-Thalassemia.
Biffi Alessandra et al. The New England journal of medicine 2018 378(16) 1551-1552 - Gene therapy helps patients avoid blood transfusion, study says
CNN, Apr 19, 2018 - Infinitesimal Odds: A Scientist Finds Her Child’s Rare Illness Stems From the Gene She Studies
P Belluck, NY Times, Apr 23, 2018 - Prenatal Correction of X-Linked Hypohidrotic Ectodermal Dysplasia.
Schneider Holm et al. The New England journal of medicine 2018 Apr 378(17) 1604-1610 - Use of Genetic Testing for Primary Immunodeficiency Patients.
Heimall Jennifer R et al. Journal of clinical immunology 2018 Apr - Genetic testing for clinically suspected spinocerebellar ataxias: report from a tertiary referral centre in India.
Venkatesh Sowmya Devatha et al. Journal of genetics 2018 Mar 97(1) 219-224
Cancer
- Prevalence and Spectrum of BRCA1/2 Germline Mutations in Women with Breast Cancer in China Based on Next-Generation Sequencing.
Liang Yi et al. Medical science monitor : international medical journal of experimental and clinical research 2018 Apr 242465-2475 - What Does This Mutation Mean? The Tools and Pitfalls of Variant Interpretation in Lymphoid Malignancies.
Yann Guillermin et al. International journal of molecular sciences 2018 Apr 19(4) - Utilization of the 21-Gene Recurrence Score in a Diverse Breast Cancer Patient Population: Development of a Clinicopathologic Model to Predict High-Risk Scores and Response to Neoadjuvant Chemotherapy.
Park Ko Un et al. Annals of surgical oncology 2018 Apr - New Ads From Former Smokers
CDC Tips Campaign, 2018 - Blood free-circulating DNA testing by highly sensitive methylation assay to diagnose colorectal neoplasias.
Suehiro Yutaka et al. Oncotarget 2018 Mar 9(24) 16974-16987 - Genomic and Bioinformatics Approaches for Analysis of Genes Associated With Cancer Risks Following Exposure to Tobacco Smoking.
Al-Obaide Mohammed A I et al. Frontiers in public health 2018 684 - Personalized Tumor Vaccine Shows Promise in Advanced Ovarian Cancer
ASCO Post, Apr 23, 2018 - GGDonto ontology as a knowledge-base for genetic diseases and disorders of glycan metabolism and their causative genes.
Solovieva Elena et al. Journal of biomedical semantics 2018 Apr 9(1) 14 - Using Big Data in oncology to prospectively impact clinical patient care: A proof of concept study.
Dougoud-Chauvin Vérène et al. Journal of geriatric oncology 2018 Apr - Morphology and genomic hallmarks of breast tumours developed by ATM deleterious variant carriers.
Renault Anne-Laure et al. Breast cancer research : BCR 2018 Apr 20(1) 28 - Precision medicine against ALK-positive non-small cell lung cancer: beyond crizotinib.
Ricciuti Biagio et al. Medical oncology (Northwood, London, England) 2018 Apr 35(5) 72 - Germline variants in pancreatic cancer patients with a personal or family history of cancer fulfilling the revised Bethesda guidelines.
Ohmoto Akihiro et al. Journal of gastroenterology 2018 Apr - Chilean Gastric Cancer Task Force: A study protocol to obtain a clinical and molecular classification of a cohort of gastric cancer patients.
Owen Gareth I et al. Medicine 2018 Apr 97(16) e0419 - Follow NICE guidance and test for Lynch,
by Asha Kaur, the Hippocratic Post, April 23, 2018 - A cancer drug tailored to your tumor? Experts trade barbs over ‘precision oncology’
J Kaiser, Science, Apr 24, 2018 - Hereditary renal cell carcinoma syndromes: diagnosis, surveillance and management.
Maher Eamonn R et al. World journal of urology 2018 Apr - Hormone Replacement Therapy After Oophorectomy and Breast Cancer Risk Among BRCA1 Mutation Carriers
J Kotsopolous et al, JAMA Oncology, Apr 2019 - Malignant Abnormalities in Male BRCA Mutation Carriers Results From a Prospectively Screened Cohort
R Mano et al, JAMA Oncology, Apr 2018 - Tumor development in Japanese patients with Lynch syndrome.
Saita Chiaki et al. PloS one 2018 13(4) e0195572 - BRCA mutation carrier detection. A model-based cost-effectiveness analysis comparing the traditional family history approach and the testing of all patients with breast cancer.
Norum Jan et al. ESMO open 2018 3(3) e000328 - Identification and Validation of a Diagnostic and Prognostic Multi-Gene Biomarker Panel for Pancreatic Ductal Adenocarcinoma.
Klett Hagen et al. Frontiers in genetics 2018 9108 - Genetic testing for hereditary prostate cancer: Current status and limitations.
Zhen Jun Tu et al. Cancer 2018 Apr - Patient HLA class I genotype influences cancer response to checkpoint blockade immunotherapy.
Chowell Diego et al. Science (New York, N.Y.) 2018 359(6375) 582-587 - Improving the detection of patients with inherited predispositions to hematologic malignancies using next-generation sequencing-based leukemia prognostication panels.
DiNardo Courtney D et al. Cancer 2018 Apr - Personalized vaccines for cancer immunotherapy.
Sahin Ugur et al. Science (New York, N.Y.) 2018 Mar 359(6382) 1355-1360
Chronic Disease
- Whole Exome Sequencing in 20,197 Persons for Rare Variants in Alzheimer Disease
NS Raghavan et al, BioRXIV, Apr 20, 2018 - Maturity onset diabetes of the young due to HNF1A variants in Croatia.
Pavic Tamara et al. Biochemia medica 2018 Jun 28(2) 020703
Ethical, Legal and Social Issues (ELSI)
- A welcome framework for research in Africa.
et al. Nature 2018 Apr 556(7701) 274 - Ethics of Genomic Data Sharing: An Interview with Bartha Maria Knoppers
Global Alliance for Genomics and Health, Apr 2018
General Practice
- Will precision medicine improve population health? Yes, if….
M Khoury, Slide Presentation, University of Utah, Mar 2018 - Delivering on the value proposition of precision medicine: the view from healthcare payers.
Kogan Jane Null et al. The American journal of managed care 2018 Apr 24(4) 177-179 - Social Context: Fostering an appreciation for what our DNA means for our health, our identities and our culture
NHGRI, Apr 25, 2018 - In the Era of Precision Medicine and Big Data, Who Is Normal?
AK Manrai et al, JAMA, Apr 22, 2018 - Health Care Providers Can't Afford To Ignore Direct-To-Consumer Genetic Testing
E Matloff, Forbes, Apr 25, 2018 - Resources and information about the impact of the Racial and Ethnic Approaches to Community Health (REACH) program
- 5 reasons your doctor may recommend genetic counseling during pregnancy
Geisinger Health, Apr 2018 - The role of cost-effectiveness analysis in precision medicine and public health genomics.
S Grosse, CDC slide presentation, Mar 2018 - The Code is a three-part video series investigating the roots of today’s most promising genetic technologies
S Begley, StatNews, Apr 2018 - At-Home Genetic Testing Is Blurring Lines Between Patient and Consumer
E Glowatz, Newsweek, Apr 24, 2018 - DNA Day contest: Congratulations to our winners and thank you all for participating. Happy DNA Day!
ASHG, Apr 25, 2018 - How Can We Reach At-Risk Relatives? Efforts to Enhance Communication and Cascade Testing Uptake: a Mini-Review
R Schwiter et al. Curr Genet Med Rep, Apr 2018 - Toward a Personal Biomap
J Shaw, Harvard Magazine, Spring, 2018 - Direct-to-Consumer Genomic Testing- Accessing information about your genome from your home
NHGRI, Apr 20, 2018 - Epigenetics: the first 25 centuries
A Ganesan, Phil Trans Royal Soc B, Apr 23, 2018 - Global Biobank Engine: enabling genotype-phenotype browsing for biobank summary statistics
G McInnes et al, BioRXIV, Apr 22, 2018 - Celebrate DNA Day 2018 with ASHG
J Cody, ASHG, Apr 25, 2018 - 23andMe Test Opens Conversations, Highlights Need for Genetic Counselors,
by Kristie L. Kahl, Cure, April 23, 2018 - Stages of behavioural change after direct-to-consumer disease risk profiling: study protocol of two integrated controlled pragmatic trials.
Stewart Kelly F J et al. Trials 2018 Apr 19(1) 240 - The economic case for precision medicine.
Gavan Sean P et al. Expert review of precision medicine and drug development 2018 3(1) 1-9 - '15 for 15' Celebration- Fifteen ways genomics is now influencing our world
NHGRI, Apr 2018 - Genetic counseling in industry settings: Opportunities in the era of precision health.
McWalter Kirsty et al. American journal of medical genetics. Part C, Seminars in medical genetics 2018 Mar 178(1) 46-53 - Genetic counselors as social and behavioral scientists in the era of precision medicine.
Biesecker Barbara B et al. American journal of medical genetics. Part C, Seminars in medical genetics 2018 Mar 178(1) 10-14 - Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease.
Dilliott Allison A et al. Journal of visualized experiments : JoVE 2018 Apr (134) - Recontacting or not recontacting? A survey of current practices in clinical genetics centres in Europe.
Sirchia Fabio et al. European journal of human genetics : EJHG 2018 Apr - The Lifespan of Genetic Testing.
DeFilippis Ersilia M et al. The American journal of medicine 2018 Apr - Genome Editing- Altering a genome with unparalleled efficiency and precision.
NHGRI, Apr 24, 2018 - Broad Institute to sequence its 100,000th whole human genome on National DNA Day
Broad Institute, Apr 24, 2018 - Challenges in Design and Creation of Genetic openEHR-Archetype.
Maranhão Priscila A et al. Studies in health technology and informatics 2018 247835-839
Heart, Lung, Blood and Sleep Diseases
- Associations of Fitness, Physical Activity, Strength, and Genetic Risk With Cardiovascular Disease: Longitudinal Analyses in the UK Biobank Study.
Tikkanen Emmi et al. Circulation 2018 Apr - Notice of Intent to Publish a Funding Opportunity Announcement for Rare Disease Cohorts in Heart, Lung, Blood and Sleep Disorders
NHLBI, Apr 2018 - The 2018 Global FH Summit focuses on implementation science
The FH Foundation, Oct 1-2, 2018
Newborn Screening
- Newborn Screening for Lysosomal Storage Disorders.
Anderson Sharon et al. Journal of pediatric health care : official publication of National Association of Pediatric Nurse Associates & Practitioners 32(3) 285-294 - Decoding your baby's DNA: It can be done. But should it be?
S Karlamangla, LA Times, Apr 21, 2018 - Multiplex tandem mass spectrometry assay for newborn screening of X-linked adrenoleukodystrophy, biotinidase deficiency, and galactosemia with flexibility to assay other enzyme assays and biomarkers.
Hong Xinying et al. Molecular genetics and metabolism 2018 Mar
Pharmacogenomics
- Pharmacogenomic information in the Warning section of drug labels: A comparison between labels in the United States and those in five other countries/regions.
Imatoh T et al. Journal of clinical pharmacy and therapeutics 2018 Apr - SLCO1B1 Polymorphism Is a Drug Response Predictive Marker for Advanced Pancreatic Cancer Patients Treated With Gemcitabine, S-1, or Gemcitabine Plus S-1.
Sato Yasunori et al. Pancreas 2018 Apr - Pharmacogenetics-based area-under-curve model can predict efficacy and adverse events from axitinib in individual patients with advanced renal cell carcinoma.
Yamamoto Yoshiaki et al. Oncotarget 2018 Mar 9(24) 17160-17170 - Ten Years' Experience with the CYP2D6 Activity Score: A Perspective on Future Investigations to Improve Clinical Predictions for Precision Therapeutics.
Gaedigk Andrea et al. Journal of personalized medicine 2018 Apr 8(2) - Community Dissemination in a Tribal Health Setting: A Pharmacogenetics Case Study.
Beans Julie A et al. American Indian and Alaska native mental health research (Online) 2018 25(1) 80-94 - Implementing Pharmacogenomic Clinical Decision Support into German Hospitals.
Hinderer Marc et al. Studies in health technology and informatics 2018 247870-874
Reproductive Health
- Views of parents of children with sickle cell disease on pre-implantation genetic diagnosis.
Darbari Isha et al. Pediatric blood & cancer 2018 Apr e27102 - Clinical experience with multigene carrier panels in the reproductive setting.
Terhaar Catherine et al. Prenatal diagnosis 2018 Apr - Is carriership of a balanced translocation or inversion an indication for non-invasive prenatal testing?
Srebniak Malgorzata I et al. Expert review of molecular diagnostics 2018 Apr - Pharmacogenetics of G-protein-coupled receptors variants: FSH receptor and infertility treatment.
Santi Daniele et al. Best practice & research. Clinical endocrinology & metabolism 2018 Apr 32(2) 189-200 - Infertility FAQs
CDC, 2018 - Should Premarital Screening for Blood Disorders be an Obligatory Measure in Oman?
Al-Balushi Amal A et al. Sultan Qaboos University medical journal 2018 Feb 18(1) e24-e29
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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