Publication Date: May 24, 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
- Development of a molecular diagnostic test for Retinitis Pigmentosa in the Japanese population.
Maeda Akiko et al. Japanese journal of ophthalmology 2018 May - Genetic testing of XY newborns with a suspected disorder of sex development.
Alimussina Malika et al. Current opinion in pediatrics 2018 May - Molecular testing in holoprosencephaly.
Kruszka Paul et al. American journal of medical genetics. Part C, Seminars in medical genetics 2018 May - Are we missing patients with biotinidase deficiency in France?
Deschamps R et al. Revue neurologique 2018 May 174(5) 273-274 - At the Crossroads of Clinical and Preclinical Research for Muscular Dystrophy-Are We Closer to Effective Treatment for Patients?
Gawlik Kinga I et al. International journal of molecular sciences 2018 May 19(5)
Cancer
- Clinical germline diagnostic exome sequencing for hereditary cancer: Findings within novel candidate genes are prevalent.
Powis Zöe et al. Cancer genetics 2018 Aug 224-22512-20 - Risk-reducing mastectomy for the prevention of primary breast cancer.
Carbine Nora E et al. The Cochrane database of systematic reviews 2018 4CD002748 - Prevalence of deleterious mutations among patients with breast cancer referred for multigene panel testing in a Romanian population.
Goidescu Iulian Gabriel et al. Clujul medical (1957) 2018 91(2) 157-165 - Precision Medicine in Hormone Receptor-Positive Breast Cancer.
Nasrazadani Azadeh et al. Frontiers in oncology 2018 8144 - Understanding barriers to the introduction of precision medicines in non-small cell lung cancer: A qualitative interview protocol.
Wright Stuart et al. Wellcome open research 2018 324 - Lynch syndrome-associated endometrial carcinoma with MLH1 germline mutation and MLH1 promoter hypermethylation: a case report and literature review.
Yokoyama Takanori et al. BMC cancer 2018 May 18(1) 576 - Inequities in genetic testing for hereditary breast cancer: implications for public health practice.
Sayani Ambreen et al. Journal of community genetics 2018 May - Factors associated with breast MRI use among women with a family history of breast cancer.
White Mary C et al. The breast journal 2018 May - Validity of targeted next-generation sequencing in routine care for identifying clinically relevant molecular profiles in non-small-cell lung cancer: results of a 2-year experience on 1,343 samples.
Legras Antoine et al. The Journal of molecular diagnostics : JMD 2018 May - A radiosensitivity gene signature and PD-L1 predict the clinical outcomes of patients with lower grade glioma in TCGA.
Jang Bum-Sup et al. Radiotherapy and oncology : journal of the European Society for Therapeutic Radiology and Oncology 2018 May - Precision Medicine and Radiogenomics in Breast Cancer: New Approaches toward Diagnosis and Treatment.
Pinker Katja et al. Radiology 2018 Jun 287(3) 732-747 - Impact of microRNA-375 and its target gene SMAD-7 polymorphism on susceptibility of colorectal cancer.
Shaker Olfat Gamil et al. Journal of clinical laboratory analysis 2018 Jan 32(1) - Diagnostic value of circulating cell-free DNA levels for hepatocellular carcinoma.
Yan Linlin et al. International journal of infectious diseases : IJID : official publication of the International Society for Infectious Diseases 2018 Feb 6792-97 - Are Some Tumors Just ‘Born to Be Bad’?
NIH Director's blog, May 22, 2018 - An Update Regarding the Molecular Genetics of Melanocytic Neoplasms and the Current Applications of Molecular Genetic Technologies in Their Diagnosis and Treatment.
Kiavash Katrin et al. Clinics in laboratory medicine 2018 Jun 38(2) 385-399 - Annual Report to the Nation: overall cancer mortality continues to decline, prostate cancer mortality has stabilized
NCI, Press Release, May 22, 2018 - Current state of immunotherapy for glioblastoma.
Lim Michael et al. Nature reviews. Clinical oncology 2018 Apr - Association of Polygenic Risk Scores for Multiple Cancers in a Phenome-wide Study: Results from The Michigan Genomics Initiative.
Fritsche Lars G et al. American journal of human genetics 2018 May - Analysis of DNA methylation in cancer: location revisited.
Koch Alexander et al. Nature reviews. Clinical oncology 2018 Apr - VAReporter: variant reporter for cancer research of massive parallel sequencing.
Huang Po-Jung et al. BMC genomics 2018 May 19(Suppl 2) 86 - Association of BRAF Mutations With Survival and Recurrence in Surgically Treated Patients With Metastatic Colorectal Liver Cancer
GA Margonis et al. JAMA Surgery, May 2018 - Mutation screening using formalin-fixed paraffin-embedded tissues: a stratified approach according to DNA quality.
Cucco Francesco et al. Laboratory investigation; a journal of technical methods and pathology 2018 May - Creation and Implementation of an Environmental Scan to Assess Cancer Genetics Services at Three Oncology Care Settings.
Bednar Erica M et al. Journal of genetic counseling 2018 May - NCCN Guidelines Updates: Prostate Cancer and Prostate Cancer Early Detection.
Carroll Peter H et al. Journal of the National Comprehensive Cancer Network : JNCCN 2018 May 16(5S) 620-623 - Targeted Therapy for Patients With Metastatic Non-Small Cell Lung Cancer.
Reckamp Karen L et al. Journal of the National Comprehensive Cancer Network : JNCCN 2018 May 16(5S) 601-604 - Previvor: An Oncology Nurse's Story of Cancer Risk Reduction Through Genetic Testing.
Kelly Joanne et al. Clinical journal of oncology nursing 2018 Jun 22(3) 247-248 - Head and Neck Cancer in the New Era of Precision Medicine.
Nör J E et al. Journal of dental research 2018 Jun 97(6) 601-602 - Molecular Diagnostics in Colorectal Carcinoma: Advances and Applications for 2018.
Bhalla Amarpreet et al. Clinics in laboratory medicine 2018 Jun 38(2) 311-342 - Molecular Diagnosis of Hematopoietic Neoplasms: 2018 Update.
Ramchandren Radhakrishnan et al. Clinics in laboratory medicine 2018 Jun 38(2) 293-310 - p53 and Me.
Elmore Shekinah N C et al. The New England journal of medicine 2018 May 378(21) 1962-1963 - Insurance Coverage Policies for Pharmacogenomic and Multi-Gene Testing for Cancer.
Lu Christine Y et al. Journal of personalized medicine 2018 May 8(2) - Predicting the presence of oral squamous cell carcinoma using commonly dysregulated microRNA in oral swirls.
Yap Tami et al. Cancer prevention research (Philadelphia, Pa.) 2018 May - Molecular Testing Guideline for the Selection of Patients With Lung Cancer for Targeted Therapy.
Copur Mehmet Sitki et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2018 May JCO2018788240 - Is universal tumor testing for Lynch syndrome cost-effective? It depends!
Grosse Scott D et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 May - Psychological impact of von Hippel-Lindau genetic screening in patients with a previous history of hemangioblastoma of the central nervous system.
Rochette Claire et al. Journal of psychosocial oncology 2018 May 1-11 - Clinical Implication of MicroRNAs in Molecular Pathology: An Update for 2018.
Sethi Seema et al. Clinics in laboratory medicine 2018 Jun 38(2) 237-251 - Integration of multigene panels for the diagnosis of hereditary retinal disorders using Next Generation Sequencing and bioinformatics approaches.
Di Resta Chiara et al. EJIFCC 2018 Apr 29(1) 15-25
Chronic Disease
- The genetics and molecular pathogenesis of systemic lupus erythematosus (SLE) in populations of different ancestry.
Goulielmos George N et al. Gene 2018 May - Human leukocyte antigen mismatch and precision medicine in transplantation.
Wiebe Chris et al. Current opinion in organ transplantation 2018 May - Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma.
Khawaja Anthony P et al. Nature genetics 2018 May - Retrospective genotype-phenotype analysis in a 305 patient cohort referred for testing of a targeted epilepsy panel.
Hesse Andrew N et al. Epilepsy research 2018 May 14453-61 - Symptoms & Causes of Celiac Disease
Research suggests that celiac disease happens to individuals who have particular genes carried by about one-third of the population. NIDDK< 2018 - Genetic Testing for Retina Specialists.
Wood Edward H et al. Ophthalmic surgery, lasers & imaging retina 2018 May 49(5) 292-295 - ASSESSMENT OF DRUSEN AND OTHER RETINAL DEGENERATIVE CHANGES IN PATIENTS WITH HEREDITARY HEMOCHROMATOSIS.
Menghini Moreno et al. Retina (Philadelphia, Pa.) 2018 Mar 38(3) 594-599 - Could It Be Lupus?
CDC information, May 2018 - Monogenic systemic lupus erythematosus: insights in pathophysiology.
Batu Ezgi Deniz et al. Rheumatology international 2018 May - Finding treatable genetic obesity: strategies for success.
Dayton Kristin et al. Current opinion in pediatrics 2018 May
Ethical, Legal and Social Issues (ELSI)
- Direct-to-Consumer Genetic Testing - The Implications of the US FDA’s First Marketing Authorization for BRCA Mutation Testing
Gill J, et al. JAMA, May 18, 2018 - FDA plans to speed path to approval for some gene therapies, starting with hemophilia
I. Swetlitz, StatNews, May 22, 2018 - Direct-to-Consumer Genetic Testing
J Gill et al, JAMA, May 18, 2018 - FDA grants orphan drug status to selumetinib for neurofibromatosis type 1 (NF1) treatment
NCI Cancer Research, May 2018
General Practice
- Human plasma and serum extracellular small RNA reference profiles and their clinical utility.
Max Klaas E A et al. Proceedings of the National Academy of Sciences of the United States of America 2018 May - Rapid ABO genotyping by high-speed droplet allele-specific PCR using crude samples.
Taira Chiaki et al. Journal of clinical laboratory analysis 2018 Jan 32(1) - Gene editing in genetic medicine
TGMI, May 18, 2018 - CRISPR 2.0: How Much More Precise Can it Get?
M Humphrey, Frontline Genomics, May 14, 2018 - Can Genetic Counselors Keep Up With 23andMe?
By Sarah Elizabeth Richards, the Atlantic, May 22, 2018 - Consumer DNA testing promises more than it delivers
TH Sae, Science News, May 22, 2018 - Gene editing in genetic medicine
TGMI, May 18, 2018 - Clinical utility of circulating non-coding RNAs - an update.
Anfossi Simone et al. Nature reviews. Clinical oncology 2018 May - Disease Heritability Inferred from Familial Relationships Reported in Medical Records.
Polubriaginof Fernanda C G et al. Cell 2018 May - Strategies to Guide the Return of Genomic Research Findings: An Australian Perspective.
Eckstein Lisa et al. Journal of bioethical inquiry 2018 May - Family trees hidden in medical records could predict your disease risk
J Kaiser, Science, May 17, 208 - Next-generation sequencing approach for the diagnosis of human diseases: open challenges and new opportunities.
Di Resta Chiara et al. EJIFCC 2018 Apr 29(1) 4-14 - The personal and clinical utility of polygenic risk scores.
Torkamani Ali et al. Nature reviews. Genetics 2018 May - Prions, prionoids and protein misfolding disorders.
Scheckel Claudia et al. Nature reviews. Genetics 2018 Apr - Risk communication in genetic counselling: exploring uptake and perception of recurrence numbers, and their impact on patient outcomes.
Borle K et al. Clinical genetics 2018 May - Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness.
Stark Zornitza et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 May
Heart, Lung, Blood and Sleep Diseases
- How can genetic diagnosis inform the decision of when to operate?
Ouzounian Maral et al. Journal of visualized surgery 2018 468 - A genome-wide cross-trait analysis from UK Biobank highlights the shared genetic architecture of asthma and allergic diseases.
Zhu Zhaozhong et al. Nature genetics 2018 May - The Present and the Future of Genetic Testing in Familial Hypercholesterolemia: Opportunities and Caveats.
Hooper Amanda J et al. Current atherosclerosis reports 2018 May 20(6) 31 - Genetics of Resistant Hypertension: the Missing Heritability and Opportunities.
Teixeira Samantha K et al. Current hypertension reports 2018 May 20(6) 48 - Impact of VKORC1, CYP4F2 and NQO1 gene variants on warfarin dose requirement in Han Chinese patients with catheter ablation for atrial fibrillation.
Li Jiao et al. BMC cardiovascular disorders 2018 May 18(1) 96 - Treatment of homozygous familial hypercholesterolaemia in paediatric patients: A monocentric experience.
Buonuomo Paola S et al. European journal of preventive cardiology 2018 Jan 2047487318776836 - MicroRNAs and response to statins in patients with hypercholesterolemia: from basic research to precision medicine.
Zambrano Tomás et al. Pharmacogenomics 2018 May - Alcoholic Cardiomyopathy: Is it Time for Genetic Testing?
Piano Mariann R et al. Journal of the American College of Cardiology 2018 May 71(20) 2303-2305 - Genetic Etiology for Alcohol-Induced Cardiac Toxicity.
Ware James S et al. Journal of the American College of Cardiology 2018 May 71(20) 2293-2302 - Targeted next generation sequencing for the diagnosis of patients with rare congenital anemias.
Shefer Averbuch Noa et al. European journal of haematology 2018 May - Cardiac genetic counselor: An important member of your healthcare team.
Tichnell Crystal et al. Pacing and clinical electrophysiology : PACE 2018 May - The FH Foundation® Begins Enrollment in PAGENT Study to Improve Understanding of Genetic Testing for Familial Hypercholesterolemia (FH)
S Seim, The FH foundation. May 16, 2018 - Biomarker signatures of sickle cell disease severity.
Du Mengtian et al. Blood cells, molecules & diseases 2018 May - [Using target next-generation sequencing assay in diagnosing of 46 patients with suspected congenital anemias].
Li Y et al. Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi 2018 May 39(5) 414-419 - Anxiety, depression, and health-related quality of life in heterozygous familial hypercholesterolemia: A systematic review and meta-analysis.
Akioyamen Leo E et al. Journal of psychosomatic research 2018 Jun 10932-43 - Simplified Canadian Definition for Familial Hypercholesterolemia
I Ruel etb al, CJC, May 2018 - Diagnostic Yield of Genetic Testing in Young Athletes with T-wave Inversion.
Sheikh Nabeel et al. Circulation 2018 May
Newborn Screening
- New approach to accurate interpretation of sickle cell disease newborn screening by applying multiple of median cutoffs and ratios.
Allaf Bichr et al. Pediatric blood & cancer 2018 May e27230
Pharmacogenomics
- The impact of pharmacokinetic gene profiles across human cancers.
Zimmermann Michael T et al. BMC cancer 2018 May 18(1) 577 - The impact of OPRM1's genetic polymorphisms on methadone maintenance treatment in opioid addicts: a systematic review.
Oueslati Bilel et al. Pharmacogenomics 2018 May - Pharmacogenetic associations with cytochrome P450 in antiretroviral therapy: what does the future hold?
Stillemans Gabriel et al. Expert opinion on drug metabolism & toxicology 2018 May - Pharmacogenetic tests to guide drug treatment in depression: Comparison of the available testing kits and clinical trials.
Fabbri Chiara et al. Progress in neuro-psychopharmacology & biological psychiatry 2018 May 8636-44 - The impact of real-world cardiovascular-related pharmacogenetic testing in an insured population.
Billings Jennifer et al. International journal of clinical practice 2018 May e13088 - Pharmacogenomics in Papua New Guineans: unique profiles and implications for enhancing drug efficacy while improving drug safety.
Tucci Joseph D et al. Pharmacogenetics and genomics 2018 Jun 28(6) 153-164 - Pharmacogenetics of novel oral anticoagulants: a review of identified gene variants & future perspectives.
Ašic Adna et al. Personalized medicine 2018 May
Reproductive Health
- Preimplantation genetic diagnosis as a strategy to prevent having a child born with an heritable eye disease.
Yahalom Claudia et al. Ophthalmic genetics 2018 May 1-7 - Comprehensive genetic testing for female and male infertility using next-generation sequencing.
Patel Bonny et al. Journal of assisted reproduction and genetics 2018 May - Genetic Approaches in Preeclampsia.
Yong Hannah E J et al. Methods in molecular biology (Clifton, N.J.) 2018 171053-72
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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