Publication Date: Oct 12, 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
- Finding the genetic mechanisms of folate deficiency and neural tube defects-Leaving no stone unturned.
Au Kit Sing et al. American journal of medical genetics. Part A 2017 Sep - Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy.
Eichler Florian et al. The New England journal of medicine 2017 Oct - Undiagnosed Diseases Program Seeks to Solve Medical Mysteries
E Bock, NIH record, Oct 6, 2017 - FDA awards six grants for natural history studies in rare diseases
FDA, Oct 6, 2017 - Introducing high-throughput sequencing into mainstream of genetic diagnosis practice in inherited platelet disorders.
Bastida José M et al. Haematologica 2017 Oct - Sudden infant death syndrome due to long QT syndrome: a brief review of the genetic substrate and prevalence.
Ioakeimidis Nikolaos S et al. Journal of biological research (Thessalonike, Greece) 2017 Dec 246 - "My Plate is Full": Reasons for Declining a Genetic Evaluation of Hearing Loss.
Lesperance Marci M et al. Journal of genetic counseling 2017 Oct - International Consensus Statement on the Clinical and Therapeutic Management of Leber's Hereditary Optic Neuropathy.
Carelli Valerio et al. Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society 2017 Oct - In a First, Gene Therapy Halts a Fatal Brain Disease
G Kolata, NY Times, Oct 5, 2017 - Genetic Risk Factors for Folate-Responsive Neural Tube Defects.
Molloy Anne M et al. Annual review of nutrition 2017 Aug 37269-291
Cancer
- Role of Deficient DNA Mismatch Repair Status in Patients With Stage III Colon Cancer Treated With FOLFOX Adjuvant Chemotherapy: A Pooled Analysis From 2 Randomized Clinical Trials
Zaanan Aziz et al. JAMA oncology 2017 Oct - Cost Effectiveness of Age-specific Screening Intervals for People with Family Histories of Colorectal Cancer.
Naber Steffie K et al. Gastroenterology 2017 Sep - Gene test 'narrows down breast cancer risk'
J walrond, BBC News, Oct 8, 2017 - Genetic/Familial High Risk Assessment: Breast and Ovarian Cancer[PDF 1.69 MB]
NCCN Guidelines, October 2017 - Emerging Trends in Family History of Breast Cancer and Associated Risk.
Shiyanbola Oyewale O et al. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2017 Oct - The identification of Lynch syndrome in Congolese colorectal cancer patients.
Poaty Henriette et al. Bulletin du cancer 2017 Oct - Molecular adequacy of image-guided rebiopsies for molecular retesting in advanced non-small cell lung cancer: a single centre experience.
Tokaca Nadza et al. Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer 2017 Oct - A Biopsy-based 17-gene Genomic Prostate Score as a Predictor of Metastases and Prostate Cancer Death in Surgically Treated Men with Clinically Localized Disease.
Van Den Eeden Stephen K et al. European urology 2017 Oct - Clinical Proteomics for Precision Medicine: The Bladder Cancer Case.
Latosinska Agnieszka et al. Proteomics. Clinical applications 2017 Oct - Complexities of Variant Classification in Clinical Hereditary Cancer Genetic Testing.
Mundt Erin et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2017 Oct JCO2017745182 - Gene test 'narrows down breast cancer risk',
by Jenny Walrond, BBC News, October 8, 2017 - Replacing Tissue Biopsies With a Blood Test: The Technique of Liquid Biopsy
JAMA Podcast, Oct 3, 2017 - Smoking and physical inactivity increase cancer prevalence in BRCA-1 and BRCA-2 mutation carriers: results from a retrospective observational analysis.
Grill Sabine et al. Archives of gynecology and obstetrics 2017 Oct - Expanding the spectrum of germline variants in cancer.
Siraj Abdul K et al. Human genetics 2017 Oct - Effects of increasing the PSA cutoff to perform additional biomarker tests before prostate biopsy.
Nordström Tobias et al. BMC urology 2017 Oct 17(1) 92 - Cost-effectiveness of methods in personalized medicine. Results of a decision-analytic model in patients with acute myeloid leukemia with normal karyotype.
Hörster Laura et al. Leukemia research 2017 Sep 6284-90 - North Central Cancer Treatment Group N0543 (Alliance): A phase 2 trial of pharmacogenetic-based dosing of irinotecan, oxaliplatin, and capecitabine as first-line therapy for patients with advanced small bowel adenocarcinoma.
McWilliams Robert R et al. Cancer 2017 Sep 123(18) 3494-3501 - Additional cytogenetic abnormalities and variant t(9;22) at the diagnosis of childhood chronic myeloid leukemia: The experience of the International Registry for Chronic Myeloid Leukemia in Children and Adolescents.
Millot Frédéric et al. Cancer 2017 Sep 123(18) 3609-3616 - A Comprehensive Infrastructure for Big Data in Cancer Research: Accelerating Cancer Research and Precision Medicine.
Hinkson Izumi V et al. Frontiers in cell and developmental biology 2017 583 - Breast Cancer Risk Estimation and Personal Insurance: A Qualitative Study Presenting Perspectives from Canadian Patients and Decision Makers.
Dalpé Gratien et al. Frontiers in genetics 2017 8128 - Value of a molecular screening program to support clinical trial enrollment in Asian cancer patients: The Integrated Molecular Analysis of Cancer (IMAC) Study.
Heong Valerie et al. International journal of cancer 2017 Oct - Next-Generation Proteomics and Its Application to Clinical Breast Cancer Research.
Mardamshina Mariya et al. The American journal of pathology 2017 Oct 187(10) 2175-2184 - Twenty-First Century Precision Medicine in Oncology: Genomic Profiling in Patients With Cancer.
Borad Mitesh J et al. Mayo Clinic proceedings 2017 Oct 92(10) 1583-1591 - KRAS mutation testing in borderline ovarian tumors and low-grade ovarian carcinomas with a rapid, fully integrated molecular diagnostic system.
Sadlecki Pawel et al. Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine 2017 Oct 39(10) 1010428317733984 - Association between a 17-gene genomic prostate score and multi-parametric prostate MRI in men with low and intermediate risk prostate cancer (PCa).
Leapman Michael S et al. PloS one 2017 12(10) e0185535
Chronic Disease
- Immune monitoring for precision medicine in allergy and asthma.
Boyd Scott Dexter et al. Current opinion in immunology 2017 Sep 4882-91 - National ALS Registry Turns 7
- Using induced pluripotent stem cells to explore genetic and epigenetic variation associated with Alzheimer's disease
J Imm et al, Frontiers Medicine, Oct 3, 2017 - Convergence between biological, behavioural and genetic determinants of obesity.
Ghosh Sujoy et al. Nature reviews. Genetics 2017 Oct - A genome-by-environment interaction classifier for precision medicine: personal transcriptome response to rhinovirus identifies children prone to asthma exacerbations
V Gardeaux et al, JAMIA, Jul 2017 - Family studies to find rare high risk variants in migraine.
Hansen Rikke Dyhr et al. The journal of headache and pain 2017 Dec 18(1) 32 - Genetics of Migraine: Insights into the Molecular Basis of Migraine Disorders.
Sutherland Heidi G et al. Headache 2017 Apr 57(4) 537-569 - Improved efficacy with targeted pharmacogenetic-guided treatment of patients with depression and anxiety: A randomized clinical trial demonstrating clinical utility.
Bradley Paul et al. Journal of psychiatric research 2017 Sep 96100-107 - Huntington Disease: The Complexities of Making and Disclosing a Clinical Diagnosis After Premanifest Genetic Testing.
McCusker Elizabeth A et al. Tremor and other hyperkinetic movements (New York, N.Y.) 2017 7467 - Patients' Perceptions of Their Relatives' Risk of Developing Rheumatoid Arthritis and of the Potential for Risk Communication, Prediction, and Modulation.
Falahee Marie et al. Arthritis care & research 2017 Oct 69(10) 1558-1565 - Genetic Testing in Liver Disease: What to Order, in Whom, and When.
Schonfeld Emily A et al. Clinics in liver disease 2017 Nov 21(4) 673-686
Ethics/Policy/Law
- Response to “Proposal to Update Data Management of Genomic Summary Results Under the NIH Genomic Data Sharing Policy
D MacArthur, Broad Institute, Oct 10, 2017 - Navajo Nation reconsiders ban on genetic research
S Reardon, Nature, Oct 6, 2017 - Scanning the body, sequencing the genome: Dealing with unsolicited findings.
Wouters Roel H P et al. Bioethics 2017 Oct - Legal issues regarding gene editing at the beginning of life: an EU perspective.
Miguel Beriain Iñigo De et al. Regenerative medicine 2017 Oct
Practice
- Use of the "Exposome" in the Practice of Epidemiology: A Primer on -Omic Technologies.
DeBord D Gayle et al. American journal of epidemiology 2016 Aug 184(4) 302-14 - Is precision medicine possible?
KM Weiss, Issues in Science and Technology, Fall 2017 - Implementing and Evaluating Genomic Screening Programs in Health Care Systems: A Workshop
NASEM, November 1, 2017 - Sharing genetic information
N Rahman, TGMI Blog Post, Oct 6, 2017 - Epidemiology matters: peering inside the "black box" in economic evaluations of genetic testing
Grosse SD et al, Genetics in Medicine, 2016 (pubmed central, June 2017) - Mayo Clinic Minute: 3 things to know about home genetic testing
I Roth, Mayo Clinic, Oct 4, 2017 - Knowledge for Precision Medicine Mechanistic Reasoning and Methodological Pluralism
MR Tonelli et al, JAMA, Oct 9, 2017 - Gene Editing: Gold Nanoparticle Delivery Shows Promise
NIH Director's Blog, Oct 10, 2017
Cardiovascular Diseases
- Diagnosis and clinical management of long-QT syndrome.
Steinberg Christian et al. Current opinion in cardiology 2017 Oct - Familial Hypercholesterolemia: A Systematic Review of Guidelines on Genetic Testing and Patient Management.
Migliara Giuseppe et al. Frontiers in public health 2017 5252 - Care in Specialized Centers and Data Sharing Increase Agreement in Hypertrophic Cardiomyopathy Genetic Test Interpretation.
Furqan Aisha et al. Circulation. Cardiovascular genetics 2017 Oct 10(5) - Genomic Triangulation and Coverage Analysis in Whole-Exome Sequencing-Based Molecular Autopsies.
Shanks Garrett W et al. Circulation. Cardiovascular genetics 2017 Oct 10(5) - Pathogenicity of Hypertrophic Cardiomyopathy Variants: A Path Forward Together.
Ingles Jodie et al. Circulation. Cardiovascular genetics 2017 Oct 10(5)
Newborn Screening
- Reflection on the Expanded Newborn Screening Programme in Saudi Arabia: Incidence of Screened Disorders.
Mohamed Sarar et al. Journal of paediatrics and child health 2017 Oct 53(10) 1034-1035
Pharmacogenomics
- From fighting cancer to opioid addiction: Genetics matter with medications
Mayo Clinic, Oct 9, 2017 - Clinical utility of the low-density Infinium QC genotyping Array in a genomics-based diagnostics laboratory.
Ponomarenko Petr et al. BMC medical genomics 2017 Oct 10(1) 57 - Pharmacogenomics of Bucindolol in Atrial Fibrillation and Heart Failure.
Parikh Kishan S et al. Current heart failure reports 2017 Oct
Reproductive Health
- Incidental Detection of Maternal Neoplasia in Noninvasive Prenatal Testing.
Dharajiya Nilesh G et al. Clinical chemistry 2017 Oct - Whole exome sequencing as a diagnostic adjunct to clinical testing in a tertiary referral cohort of 3988 fetuses with structural abnormalities.
Fu Fang et al. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2017 Oct - Implementing non-invasive prenatal testing into publicly funded antenatal screening services for Down syndrome and other conditions in Aotearoa New Zealand.
Filoche Sara et al. BMC pregnancy and childbirth 2017 Oct 17(1) 344 - Preimplantation genetic screening: results of a worldwide web-based survey.
Weissman Ariel et al. Reproductive biomedicine online 2017 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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