Publication Date: Jan 25, 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
- Twins take action: diagnosed with Tay-Sachs, sisters raise awareness to find treatment and a cure
S Rose, Mayo Clinic, Individualized Medicine Blog, Jan 2017 - Personalized Medicine in CF: From Modulator Development to Therapy for Cystic Fibrosis Patients with Rare CFTR Mutations.
Harutyunyan Misak et al. American journal of physiology. Lung cellular and molecular physiology 2017 Dec - Whole Genome Sequencing Yields Clinical Information
Lab Medical International, Jan 18, 2018 - Does distance to a cystic fibrosis center impact health outcomes?
Johnson Ben et al. Pediatric pulmonology 2018 Jan - Wilson's Disease in Children: A Position Paper by the Hepatology Committee of the European Society for Paediatric Gastroenterology, Hepatology and Nutrition.
Socha Piotr et al. Journal of pediatric gastroenterology and nutrition 2018 Feb 66(2) 334-344 - Sickle cell trait knowledge and health literacy in caregivers who receive in-person sickle cell trait education.
Creary Susan et al. Molecular genetics & genomic medicine 2017 Nov 5(6) 692-699
Cancer
- Updated Molecular Testing Guideline for the Selection of Lung Cancer Patients for Treatment With Targeted Tyrosine Kinase Inhibitors: Guideline From the College of American Pathologists, the International Association for the Study of Lung Cancer, and the Association for Molecular Pathology.
Lindeman Neal I et al. Archives of pathology & laboratory medicine 2018 Jan - Is Breast Cancer Gene-Expression Profiling Cost-Effective in Community Practice?
By Bryant Furlow, Cancer Network, January 17, 2018 - A Hard Look At Liquid Biopsies
D Lowe, Science Translational Medicine Blog, Jan 22, 2018 - Inherited BRCA1 epimutation as a novel cause of breast and ovarian cancer
DGR Evans, BioRXIV, Jan 2018 - NIH Seeks Projects for Pediatric Cancer, Birth Defect Sequencing Program,
Genome Web, January 22, 2018 - Epigenetics of Breast Cancer: biology and clinical implication in the era of Precision Medicine.
Pasculli Barbara et al. Seminars in cancer biology 2018 Jan - Prognostic Power of a Tumor Differentiation Gene Signature for Bladder Urothelial Carcinomas.
Mo Qianxing et al. Journal of the National Cancer Institute 2018 Jan - Investigating the feasibility of tumour molecular profiling in gastrointestinal malignancies in routine clinical practice.
Moorcraft S Y et al. Annals of oncology : official journal of the European Society for Medical Oncology 2018 Jan 29(1) 230-236 - Clinicopathological, genomic and immunological factors in colorectal cancer prognosis.
Marks K M et al. The British journal of surgery 2018 Jan 105(2) e99-e109 - Minimizing inequality in access to precision medicine in breast cancer by real-time population-based molecular analysis in the SCAN-B initiative.
Rydén L et al. The British journal of surgery 2018 Jan 105(2) e158-e168 - Improving risk stratification among veterans diagnosed with prostate cancer: impact of the 17-gene prostate score assay.
Lynch Julie A et al. The American journal of managed care 2018 Jan 24(1 Suppl) S4-S10 - Impact of genomics on the surgical management of melanoma.
Ferguson P M et al. The British journal of surgery 2018 Jan 105(2) e31-e47 - Protect Your Daughters from Cervical Cancer
- A Cheap and Easy Blood Test Could Catch Cancer Early
E Mullin, Tech Review, Jan 18, 2018 - Gene Therapy Could Make Cancer Care More Unequal – This is How
Frontline Genomics, Jan 17, 2018 - Radon: We Track That!
- Prognostic Testing Patterns and Outcomes of Chronic Lymphocytic Leukemia Patients Stratified by Fluorescence In Situ Hybridization/Cytogenetics: A Real-world Clinical Experience in the Connect CLL Registry.
Mato Anthony et al. Clinical lymphoma, myeloma & leukemia 2017 Dec - Molecular Signatures of Radiation Response in Breast Cancer: Towards Personalized Decision-Making in Radiation Treatment.
Speers Corey et al. International journal of breast cancer 2017 20174279724 - Research test identifies BRCA2 gene mutations that lead to breast, ovarian cancers
Medical XPress, Jan 25, 2018 - Gene mutation discovery research of non-smoking lung cancer patients due to indoor radon exposure.
Choi Jung Ran et al. Annals of occupational and environmental medicine 2016 2813 - Simple blood test detects eight different kinds of cancer- ‘Liquid biopsy’ technique looks for genetic mutations and proteins linked with tumours.
H Ledford, Nature News, Jan 18, 2018 - Biomarker-Driven Therapy in Metastatic Gastric and Esophageal Cancer: Real-Life Clinical Experience.
Purim Ofer et al. Targeted oncology 2018 Jan - Genetic Test Reporting and Counseling for Melanoma Risk in Minors May Improve Sun Protection Without Inducing Distress.
Stump Tammy K et al. Journal of genetic counseling 2018 Jan - Endocrine therapy and related issues in hormone receptor-positive early breast cancer: a roundtable discussion by the breast cancer therapy expert group (BCTEG).
Abraham Jame et al. Breast cancer research and treatment 2018 Jan - Angelina Jolie gene testing for all?
J Gallagher, BBC News, Jan 18, 2018 - Review Examines the Pros and Cons of Surgery to Reduce the Risk of Cancer
Wiley Publications, Jan 2018 - Quality-of-life implications of risk-reducing cancer surgery.
Altman A M et al. The British journal of surgery 2018 Jan 105(2) e121-e130 - Genetic Testing: How Genetics and Genomics Can Affect Healthcare Disparities
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Allen Deborah et al. Clinical journal of oncology nursing 2018 Feb 22(1) 116-118 - BRCA1 and BRCA2 mutation spectrum - an update on mutation distribution in a large cancer genetics clinic in Norway.
Heramb Cecilie et al. Hereditary cancer in clinical practice 2018 163 - Improving attendance to genetic counselling services for gynaecological oncology patients.
Pokharel Hanoon P et al. Gynecologic oncology research and practice 2018 52 - Multi-gene Panel Testing in Breast Cancer Management.
Fountzilas Christos et al. Cancer treatment and research 2018 173121-140 - Including Lynch syndrome in personalized prognostication and follow-up of stage II and III colon cancer.
Sciallero S et al. Annals of oncology : official journal of the European Society for Medical Oncology 2017 28(10) 2620-2621 - Startups Enter Race to Create Cancer Screens From DNA, But is it All Too Soon?
Frontline Genomics, Jan 18, 2018 - Scientists Edge Closer To A Blood Test To Detect Cancers
R Harris, NPR, Jan 18, 2018 - Impact of Multigene Panel Testing on Surgical Decision Making in Breast Cancer Patients.
Pederson Holly J et al. Journal of the American College of Surgeons 2018 Jan - Impact of an embedded genetic counselor on breast cancer treatment.
Pederson Holly J et al. Breast cancer research and treatment 2018 Jan - MSH6 and PMS2 germ-line pathogenic variants implicated in Lynch syndrome are associated with breast cancer.
Roberts Maegan E et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jan - Whole Genome Sequencing Analysis for Cancer Genomics and Precision Medicine.
Nakagawa Hidewaki et al. Cancer science 2018 Jan - Cancer Diagnosis from a Blood Draw? Liquid Biopsies Are Still a Dream
M Molteni, Wired, Jan 18, 2018 - Inherited forms of bladder cancer: a review of lynch syndrome and other inherited conditions.
Phelan Aaron et al. Future oncology (London, England) 2018 Jan - Cost-effectiveness of Population-Based BRCA1, BRCA2, RAD51C, RAD51D, BRIP1, PALB2 Mutation Testing in Unselected General Population Women.
Manchanda Ranjit et al. Journal of the National Cancer Institute 2018 Jan - Racial Differences in 21-Gene Recurrence Scores Among Patients With Hormone Receptor-Positive, Node-Negative Breast Cancer.
Holowatyj Andreana N et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2018 Jan JCO2017745448 - Contribution of MLH1 constitutional methylation for Lynch syndrome diagnosis in patients with tumor MLH1 downregulation.
Pinto Diana et al. Cancer medicine 2018 Jan - DICER1 and associated conditions: Identification of at-risk individuals and recommended surveillance strategies.
Schultz Kris Ann P et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2018 Jan - Reply to the letter to the editor 'Including lynch syndrome in personalized prognostication and follow-up of stage II and III colon cancer' by Sciallero et al.
Dienstmann R et al. Annals of oncology : official journal of the European Society for Medical Oncology 2017 28(11) 2889-2890 - The Challenging Landscape of Cancer and Aging: Charting a Way Forward
NE Sharpless, NCI Director, Jan 24, 2018 - Use of Single-Nucleotide Polymorphisms and Mammographic Density Plus Classic Risk Factors for Breast Cancer Risk Prediction.
van Veen Elke M et al. JAMA oncology 2018 Jan - Special Issue on Precision Medicine for Brain Cancer in ACS Chemical Neuroscience.
Nilsson Carol L et al. ACS chemical neuroscience 2018 Jan 9(1) 5 - Multicenter study of diagnostic procedures, genetic aberration analysis, and first-line treatment of lung cancer in Jiangsu Province, China.
Hu YangBo et al. Thoracic cancer 2018 Jan - Validation of the digital PCR system in tyrosine kinase inhibitor-resistant EGFR mutant non-small-cell lung cancer.
Masago Katsuhiro et al. Pathology international 2018 Jan - Precision Medicine: Update on Diagnosis and Therapeutic Strategies of Hepatocellular Carcinoma.
Liang Qing et al. Current medicinal chemistry 2018 Jan - Cancer-Related Genetic Testing and Personalized Medicine for Adolescents: A Narrative Review of Impact and Understanding.
Vetsch Janine et al. Journal of adolescent and young adult oncology 2018 Jan - Assessing the effectiveness of NICE criteria for stratifying breast cancer risk in a UK cohort.
Littlejohn Lucy A et al. European journal of human genetics : EJHG 2018 Jan
Chronic Disease
- ACTN3, Morbidity, and Healthy Aging
C Pickering et al, Front Genet, Jan 2018 - Towards the application of precision medicine in Age-Related Macular Degeneration.
Cascella Raffaella et al. Progress in retinal and eye research 2017 Nov - Epigenetic Drugs: Team Players in Combo Therapies - Scientists May Be Better Able to Destroy Tumors and Possibly Reverse CNS Decline
AJ Yeager, Genetics and Biotechnology News, Jan 2018 - Stories 'There's a 50% chance I've a fatal disease. Do I find out?'
BBC News, Jan 23, 2018 - What do the genetic association data say about the high risk of suicide in people with depression? A novel network-based approach to find common molecular basis for depression and suicidal behavior and related therapeutic targets.
Bozorgmehr Ali et al. Journal of affective disorders 2018 Jan 229463-468 - Genetic biomarkers for differential diagnosis of major depressive disorder and bipolar disorder: a systematic and critical review.
Menezes Itiana Castro et al. Behavioural brain research 2018 Jan - From Genomics to Omics Landscapes of Parkinson's Disease: Revealing the Molecular Mechanisms.
Reden?ek Sara et al. Omics : a journal of integrative biology 2018 Jan 22(1) 1-16 - Prevention of Age-Related Macular Degeneration.
Singh Niharika et al. Asia-Pacific journal of ophthalmology (Philadelphia, Pa.) 6(6) 520-526 - Effect of the Apolipoprotein E Genotype on Cognitive Change During a Multidomain Lifestyle Intervention: A Subgroup Analysis of a Randomized Clinical Trial.
Solomon Alina et al. JAMA neurology 2018 Jan - Can Biomarkers Help Target Maturity-Onset Diabetes of the Young Genetic Testing in Antibody-Negative Diabetes?
Majidi Shideh et al. Diabetes technology & therapeutics 2018 Feb 20(2) 106-112 - Evidence of genetic predisposition for metabolically healthy obesity and metabolically obese normal weight.
Huang Lam Opal et al. Physiological genomics 2017 Dec - The contribution of family history to the burden of diagnosed diabetes, undiagnosed diabetes, and prediabetes in the United States: analysis of the National Health and Nutrition Examination Survey, 2009–2014.
Moonesinghe R, et al. Genetics in Medicine, Jan 25, 2018 - Toward Precision Approaches for the Prevention and Treatment of Obesity.
Yanovski Susan Z et al. JAMA 2018 319(3) 223-224
Ethical, Legal and Social Issues (ELSI)
- FDA approves first treatment for breast cancer with a certain inherited genetic mutation,
FDA, January 12, 2018 - The Ethics of General Population Preventive Genomic Sequencing: Rights and Social Justice.
Morrissey Clair et al. The Journal of medicine and philosophy 2018 Jan 43(1) 22-43 - Effect of deliberation on the public's attitudes toward consent policies for biobank research.
Tomlinson Tom et al. European journal of human genetics : EJHG 2018 Jan
General Practice
- Robust research needs many lines of evidence
MR Munafo et al, Nature, Jan 23, 2018 - “DNA Tests For Ancestry Are More Toys Than Scientific Tools, And The Industry Knows It”
- After Effects Scientists work to uncover how epigenetic mechanisms may influence genes and development
G Friar, Harvard Medicine, Jan 2018 - NIH to launch genome editing research program: Somatic Cell Genome Editing aims to develop tools for safe and effective genome editing in humans.
- Frontiers in Precision Medicine III –Will Personalized Medicine Improve Population Health?
Frontiers in Precision Medicine, University of Utah, March 16, 2018 - An operational definition of epigenetics
SL Berger et al, Genes and Development, Jan 2018 - gnomAD browser beta | genome Aggregation Database
Jan 25, 2018 - Personalized Diets: Can Your Genes Really Tell You What To Eat?
A Aubrey, NPR, Jan 22, 2018 - Why Big Data is a Big Deal for Health
UCSF Magazine, Jan 2018 - Cost-effectiveness analyses of genetic and genomic diagnostic tests.
Payne Katherine et al. Nature reviews. Genetics 2018 Jan - Engineering precision biomaterials for personalized medicine.
Aguado Brian A et al. Science translational medicine 2018 Jan 10(424) - Web Platform vs In-Person Genetic Counselor for Return of Carrier Results From Exome Sequencing: A Randomized Clinical Trial.
Biesecker Barbara B et al. JAMA internal medicine 2018 Jan - Precision Coordination: The Growing Role of the Nurse Coordinator in the Era of Personalized Medicine
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Al-Kaiyat Mohammad O et al. Clinical journal of oncology nursing 2018 Feb 22(1) 113-115 - Direct-to-Consumer Genetic Testing: Helping Patients Make Informed Choices
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Mahon Suzanne M et al. Clinical journal of oncology nursing 2018 Feb 22(1) 33-36 - Implementation of genomics research in Africa: challenges and recommendations.
Adebamowo Sally N et al. Global health action 2018 11(1) 1419033 - Genesurance Counseling: Patient Perspectives.
Wagner Chelsea et al. Journal of genetic counseling 2018 Jan - Improving Public Health Requires Inclusion of Underrepresented Populations in Research.
Spong Catherine Y et al. JAMA 2018 Jan 319(4) 337-338 - "I would like to discuss it further with an expert": a focus group study of Finnish adults' perspectives on genetic secondary findings.
Vornanen M et al. Journal of community genetics 2018 Jan - The Cult Of DNA-centricity
D Grainger, Forbes, Jan 24, 2018
Heart, Lung, Blood and Sleep Diseases
- CardioClassifier
An automated and interactive web tool that supports disease specific interpretation of genetic variants in genes associated with Inherited Cardiac Conditions. - Prior Authorization Requirements for Proprotein Convertase Subtilisin/Kexin Type 9 Inhibitors Across US Private and Public Payers
Doshi Jalpa A et al. Circulation. Cardiovascular quality and outcomes 2018 Jan 11(1) e003939 - Genomic risk prediction of coronary artery disease in nearly 500,000 adults: implications for early screening and primary prevention
M Inouye et al, BioRXIV preprints, Jan 18, 2018 - Genetics May Explain Why Some People Outperform Others When Deprived of Sleep
Front Line Genomics, Jan 15, 2018 - Implementing genome-driven personalized cardiology in clinical practice.
Pasipoularides Ares et al. Journal of molecular and cellular cardiology 2018 Jan 115142-157 - Fighting Genetic High Cholesterol: A Mother's Story: After a heart attack at only 38, Katherine Wilemon was inspired to start a foundation and help raise awareness.
MR Vann, Everyday Health - Genetics in the prevention and management of coronary artery disease.
Roberts Robert et al. Current opinion in cardiology 2018 Jan - Genetics of familial hypercholesterolemia: a tool for development of novel lipid lowering pharmaceuticals?
Volta Andrea et al. Current opinion in lipidology 2018 Jan - CardioClassifier: disease- and gene-specific computational decision support for clinical genome interpretation
N Whiffin et al, Genetics in Medicine, Jan 25, 2018 - Targeted next generation sequencing in a young population with suspected inherited malignant cardiac arrhythmias.
Broendberg Anders Krogh et al. European journal of human genetics : EJHG 2018 Jan - The role of patient registries for rare genetic lipid disorders.
Ng David M et al. Current opinion in lipidology 2018 Jan - Genetic ancestry test beats self-reports in predicting bleeding stroke risk
American Heart Association Abstract, Jan 24, 2018
Newborn Screening
- Would You Have Your Newborn Genetically Tested?
The Doctor's Staff, Jan 23, 2018 - Editorial commentary: Newborn screening for Fabry disease: Too much too soon?
Langeveld M et al. Trends in cardiovascular medicine 2018 Jan
Pharmacogenomics
- Battling depression with pharmacogenetics: Genetic screening could eliminate trial-and-error approach to medications
R Lewis, Genetic Literacy Project, Jan 23, 2018 - Implementation of Standardized Clinical Processes for TPMT Testing in a Diverse Multidisciplinary Population: Challenges and Lessons Learned.
Weitzel Kristin W et al. Clinical and translational science 2018 Jan
Reproductive Health
- Genetic and non-genetic risk factors for pre-eclampsia: an umbrella review of systematic reviews and meta-analyses of observational studies.
Giannakou Konstantinos et al. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2017 Nov - Preimplantation Genetic Diagnosis for Myotonic Dystrophy Type 1 and Analysis of the Effect of the Disease on the Reproductive Outcome of the Affected Female Patients.
Fernández Raquel María et al. BioMed research international 2017 20179165363 - Non-invasive prenatal testing of pregnancies at risk for phenylketonuria.
Duan Huikun et al. Archives of disease in childhood. Fetal and neonatal edition 2018 Jan - Positive view and increased likely uptake of follow-up testing with analysis of cell-free fetal DNA as alternative to invasive testing among Danish pregnant women.
Miltoft Caroline Borregaard et al. Acta obstetricia et gynecologica Scandinavica 2018 Jan - A Dysmorphology Based Systematic Approach Toward Perinatal Genetic Diagnosis in a Fetal Autopsy Series.
Aggarwal Shagun et al. Fetal and pediatric pathology 2018 Jan 1-20 - Clinical Experience of Laboratory Follow-Up with Non-Invasive Prenatal Testing Using Cell-Free Dna and Positive Microdeletion Results in 349 Cases.
Schwartz S et al. Prenatal diagnosis 2018 Jan
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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