Publication Date: May 3, 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
- Exome Sequencing Helps Crack Rare Disease Diagnosis-Clinical analyses of patients’ gene sequences are helping to provide answers where none were available before.
AB Keener, The Scientist, May 1, 2018 - Precision Medicine and Progress in the Treatment of Hutchinson-Gilford Progeria Syndrome.
Hisama Fuki Marie et al. JAMA 2018 Apr 319(16) 1663-1664 - A synopsis on current practice in the diagnosis and management of patients with Turner syndrome in Turkey: A survey of 18 pediatric endocrinology centers*
Uçar Ahmet et al. Journal of clinical research in pediatric endocrinology 2018 Apr - The CF Canada-Sick Kids Program in individual CF therapy: A resource for the advancement of personalized medicine in CF.
Eckford Paul D W et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2018 Apr - New Data on Autism
CDC, Apr 2018 - Prevalence of Autism Spectrum Disorder Among Children Aged 8 Years - Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2014.
Baio Jon et al. Morbidity and mortality weekly report. Surveillance summaries (Washington, D.C. : 2002) 2018 Apr 67(6) 1-23 - The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes.
Travaglini Lorena et al. Neurogenetics 2018 Apr - Finland is a powerhouse for gathering genetic clues about rare diseases
N Sengupta, Broadminded Blog, May 1, 2018 - Analysis of Downs syndrome with molecular techniques for future diagnoses.
Al-Nbaheen May Salem et al. Saudi journal of biological sciences 2018 Mar 25(3) 558-562 - Unique Burdens of Pediatric Clinical Trials in Duchenne Muscular Dystrophy, April 20-21, 2017, Bethesda, Maryland, USA.
Franson Timothy et al. Therapeutic innovation & regulatory science 2018 Jan 2168479018764650 - Epilepsy syndromes during the first year of life and the usefulness of an epilepsy gene panel.
Lee Eun Hye et al. Korean journal of pediatrics 2018 Apr 61(4) 101-107 - High Incidence of Severe Combined Immunodeficiency Disease in Saudi Arabia Detected Through Combined T Cell Receptor Excision Circle and Next Generation Sequencing of Newborn Dried Blood Spots.
Al-Mousa Hamoud et al. Frontiers in immunology 2018 9782 - Clinical Utility Gene Card for: autosomal dominant myotonia congenita (Thomsen Disease).
Coote David J et al. European journal of human genetics : EJHG 2018 Apr
Cancer
- ESCP/EAES Symposium on Screening and Surveillance - Gabriela Möslein (Germany) at ESCP Berlin 2017
YouTube Video, Apr 2018 - Sun Safe Selfie
Nearly 5 million people are treated for skin cancer each year in the United States. Skin cancer can be serious, expensive, and sometimes even deadly - National Distribution of Cancer Genetic Testing in the United States: Evidence for a Gender Disparity in Hereditary Breast and Ovarian Cancer.
Childers Kimberly K et al. JAMA oncology 2018 Apr - Prostate Cancer Genomics: Recent Advances and the Prevailing Underrepresentation from Racial and Ethnic Minorities.
Tan Shyh-Han et al. International journal of molecular sciences 2018 Apr 19(4) - An integrated clinical and genomic information system for cancer precision medicine.
Jang Yeongjun et al. BMC medical genomics 2018 Apr 11(Suppl 2) 34 - Hormone Replacement Therapy After Oophorectomy and Breast Cancer Risk Among BRCA1 Mutation Carriers.
Kotsopoulos Joanne et al. JAMA oncology 2018 Apr - Immune Profiling of Premalignant Lesions in Patients With Lynch Syndrome.
Chang Kyle et al. JAMA oncology 2018 Apr - Screening/surveillance programs for pancreatic cancer in familial high-risk individuals: A systematic review and proportion meta-analysis of screening results.
Paiella Salvatore et al. Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] 2018 Apr - A fluid solution- Scientists explore use of liquid biopsy tests to find cancer DNA
C Printz, CancerScope, Apr 2018 - Worldwide Practice Patterns in Lynch Syndrome Diagnosis and Management, Based on Data From the International Mismatch Repair Consortium.
Pan Jennifer Y et al. Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association 2018 Apr - The PiGeOn project: protocol of a longitudinal study examining psychosocial and ethical issues and outcomes in germline genomic sequencing for cancer.
Best Megan et al. BMC cancer 2018 Apr 18(1) 454 - Cancer CRISPR Screens In Vivo.
Chow Ryan D et al. Trends in cancer 2018 May 4(5) 349-358 - Personalizing initial therapy in acute myeloid leukemia: incorporating novel agents into clinical practice.
DeStefano Christin B et al. Therapeutic advances in hematology 2018 May 9(5) 109-121 - New Treatment for BRCA-Mutated Metastatic Breast Cancer.
Aschenbrenner Diane S et al. The American journal of nursing 2018 May 118(5) 21-22 - First French Pilot Quality Assessment of the EndoPredict Test for Early Luminal Breast Carcinoma.
Lehmann-Che Jacqueline et al. Anticancer research 2018 38(5) 2909-2914 - A comparison of Australian and French families affected by sarcoma: perceptions of genetics and incidental findings.
Rasmussen Victoria et al. Personalized medicine 2018 Jan 15(1) 13-24 - Reimbursement landscape for molecular testing in non-small cell lung cancer (NSCLC).
Nellesen Dave et al. The American journal of managed care 2018 Feb 24(2 Spec No.) SP37-SP42 - Breast Cancer Genes a Real Risk for Men, Too
R Preidt, Health Day, Apr 26, 2018 - Has Precision Oncology Been Over-Promised?
Frontline Genomics, Apr 25, 2018 - Saliva samples as a source of DNA for high throughput genotyping: an acceptable and sufficient means in improvement of risk estimation throughout mammographic diagnostics.
Poehls U G et al. European journal of medical research 2018 Apr 23(1) 20 - National Distribution of Cancer Genetic Testing in the United States- Evidence for a Gender Disparity in Hereditary Breast and Ovarian Cancer
K Childers et al, JAMA Onc, Apr 26, 2018 - Breast Cancer Prevention (PDQ®)–Patient Version
- Labs Differ Widely in BRCA Testing Protocols
E Becze, ONS Voice Apr 2018 - Whole-exome sequencing of cell-free DNA and circulating tumor cells in multiple myeloma.
Manier S et al. Nature communications 2018 Apr 9(1) 1691 - FFPE breast tumour blocks provide reliable sources of both germline and malignant DNA for investigation of genetic determinants of individual tumour responses to treatment.
Wilkins Anna et al. Breast cancer research and treatment 2018 Apr - Attitudes Toward Return of Genetic Research Results to Relatives, Including After Death: Comparison of Cancer Probands, Blood Relatives, and Spouse/Partners.
Radecki Breitkopf Carmen et al. Journal of empirical research on human research ethics : JERHRE 2018 Apr 1556264618769165 - A feasibility and safety study of concurrent chemotherapy based on genetic testing in patients with high-risk salivary gland tumors: Preliminary results.
Li Rongrong et al. Medicine 2018 Apr 97(17) e0564 - [Precision medicine: A major step forward in specific situations, a myth in refractory cancers?]
Albin Nicolas et al. Bulletin du cancer 2018 Apr 105(4) 375-396 - Brain tumor biobanking in the precision medicine era: building a high-quality resource for translational research in neuro-oncology.
Ostrom Quinn T et al. Neuro-oncology practice 2017 Dec 4(4) 220-228 - How to Date When You’re Waiting for Cancer,
by Jean Hannah Edelstein, the Cut, May 1, 2018 - Biomarkers of Barrett's Esophagus: From the Laboratory to Clinical Practice.
Konda Vani J A et al. Digestive diseases and sciences 2018 Apr - The Genomics of Prostate Cancer: A Historic Perspective.
Rubin Mark A et al. Cold Spring Harbor perspectives in medicine 2018 Apr - Clinical Utility of Analyzing Circulating Tumor DNA in Patients with Metastatic Colorectal Cancer.
Nakamura Yoshiaki et al. The oncologist 2018 Apr
Chronic Disease
- Genetic screening of male patients with primary hypogammaglobulinemia can guide diagnosis and clinical management.
Vince Nicolas et al. Human immunology 2018 Apr - Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression.
Wray Naomi R et al. Nature genetics 2018 Apr - Precision medicine in the management of type 2 diabetes.
Gloyn Anna L et al. The lancet. Diabetes & endocrinology 2018 Apr - Huge haul of ‘depression genes’ shows it’s a complex condition
New Scientist, Apr 27, 2018 - Precision nutrition for prevention and management of type 2 diabetes.
Wang Dong D et al. The lancet. Diabetes & endocrinology 2018 May 6(5) 416-426 - Multiple system atrophy and CAG repeat length: a genetic screening of polyglutamine disease genes in Italian patients.
Mongelli Alessia et al. Neuroscience letters 2018 Apr
Ethical, Legal and Social Issues (ELSI)
- Using a genetic test result in the care of family members: how does the duty of confidentiality apply?
Parker Michael et al. European journal of human genetics : EJHG 2018 Apr - Your genome may have already been hacked
The Conversation, Apr 30, 2018 - NIH seeks health data of 1 million people, with genetic privacy suddenly an issue
L Bernstein, Washington Post, May 2, 2018 - Is it research or is it clinical? Revisiting an old frontier through the lens of next-generation sequencing technologies.
Bertier Gabrielle et al. European journal of medical genetics 2018 Apr - Cutting-edge science and technology should be available for all.
J Reardon, Genome Magazine, Apr 2018 - Ethics of routine: a critical analysis of the concept of 'routinisation' in prenatal screening.
Kater-Kuipers Adriana et al. Journal of medical ethics 2018 Apr - Property and human genetic information.
Nielsen Morten Ebbe Juul et al. Journal of community genetics 2018 Apr - Recent updates and challenges on the regulation of precision medicine: The United States in perspective.
Chang Lin-Chau et al. Regulatory toxicology and pharmacology : RTP 2018 Apr
General Practice
- The evolving landscape of epigenomics: Measuring and manipulating methylation
Science, May 9 Webinar - Precision Public Health Asia 2018
Perth, Western Australia, Oct 18-19, 2018 - The DNA Data We Have Is Too White. Scientists Want to Fix That- In an era of personalized medicine, not including minorities in genetic studies has real-world health impacts
Smithsonian Magazine, Apr 30, 2018 - Attention: Direct-To-Consumer patrons: Proceed with caution
MJ Friez, Genetics in Med, Apr 30, 2018 - In the Era of Precision Medicine and Big Data, Who Is Normal?
Manrai Arjun K et al. JAMA 2018 Apr - Primary care providers' lived experiences of genetics in practice.
Harding Brittany et al. Journal of community genetics 2018 Apr - Cryo-EM Images Capture Key Enzyme Tied to Cancer, Aging
NIH Director Blog, May 1, 2018 - Evaluation of a decision aid for incidental genomic results, the Genomics ADvISER: protocol for a mixed methods randomised controlled trial.
Shickh Salma et al. BMJ open 2018 Apr 8(4) e021876 - NIH announces national enrollment date for All of Us Research Program to advance precision medicine Events planned across the country to engage diverse communities.
NIH News Release, May 1, 2018 - Whole genome sequencing unlikely to be funded by government health plans.
Morris Tony et al. CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne 2018 Apr 190(16) E513 - Underdiagnoses resulting from variant misinterpretation: Time for systematic reanalysis of whole exome data?
Al-Murshedi Fathiya et al. European journal of medical genetics 2018 Apr - Behavioral Economics: A New Lens for Understanding Genomic Decision Making.
Moore Scott Emory et al. Journal of nursing scholarship : an official publication of Sigma Theta Tau International Honor Society of Nursing 2018 Apr - System for Informatics in the Molecular Pathology Laboratory (SIMPL): An Open-Source End-to-End Solution for Next-Generation Sequencing Clinical Data Management.
Kang Wenjun et al. The Journal of molecular diagnostics : JMD 2018 Apr - Evolution of At-Home Genetic Testing: From Information and Entertainment to Actionable Medical Tests
SW Weisserman, NSGC Blog, Apr 2018 - The Power of Cascade Testing and How Genetic Counselors Can Help
AC Sturm, NSGC blog, Apr 2018 - Genome Culture: A Personal Risk Score May Be the Next Big Thing in Genetic Medicine
L Hercher, Genome Magazine, Apr 2018 - Gene detection: An essential process to precision medicine.
Zhang Hailiang et al. Biosensors & bioelectronics 2018 Jan 99625-636 - A response to the Chief Medical Officer's report on Genomic Medicine: a catalyst for transformation.
Barwell Julian et al. Personalized medicine 2018 Jan 15(1) 5-8 - Toward greater understanding of patient decision-making around genome sequencing.
Hull Leland E et al. Personalized medicine 2018 Jan 15(1) 57-66 - 65 Years of DNA
Frontline Genomics, Apr 25, 2018 - The development of large-scale de-identified biomedical databases in the age of genomics-principles and challenges.
Dankar Fida K et al. Human genomics 2018 Apr 12(1) 19 - The gene editing tool that could treat hereditary illnesses
CBS, Apr 26, 2018 - How knowing your genetic code could lengthen your life
A Gaskell et al, BBC News, Apr 27, 2018 - Editorial: Precision Public Health
TS Weeramanthri et al. front Pub Health, Apr 30, 2018 - Personal Omics for Precision Health.
Kellogg Ryan A et al. Circulation research 2018 Apr 122(9) 1169-1171 - Revolution in Health Care: How Will Data Science Impact Doctor–Patient Relationships?
I Lerner, Front Public Health, Apr 2018 - Teacher beliefs about the aetiology of individual differences in cognitive ability, and the relevance of behavioural genetics to education.
Crosswaite Madeline et al. The British journal of educational psychology 2018 Apr - At-Home Genetic Testing Is Blurring Lines Between Patient and Consumer,
by Elana Glowatz, Newsweek, April 24, 2018 - The AHRQ National Guideline Clearinghouse (NGC, guideline.gov) Web site will not be available after July 16, 2018
National Guideline Clearinghouse, April 30, 2018 - From CRISPR scissors to virus sensors. Two bacterial Cas proteins cleave nucleic acids indiscriminately after binding to specific target sequences. This property has now been harnessed to create highly sensitive, portable diagnostic tools for detecting viruses at low cost.
DD Kocak et al, Nature, Apr 2018 - Involving undergraduates in genomics research to narrow the education–research gap
S Mangul et al, Nature Biotech Apr 2018
Heart, Lung, Blood and Sleep Diseases
- Living With COPD
- Emerging Role of Precision Medicine in Cardiovascular Disease.
Leopold Jane A et al. Circulation research 2018 Apr 122(9) 1302-1315 - Coronary heart disease mortality in treated familial hypercholesterolaemia: Update of the UK Simon Broome FH register
SE Humphries et al, Atherosclerosis, May 2018 - Genetics and Family History Can Increase Risk for Stroke
- NGS testing for cardiomyopathy: Utility of adding RASopathy-associated genes.
Ceyhan-Birsoy Ozge et al. Human mutation 2018 Apr - Genetic testing of long QT syndrome: Should we go back to the future?
Cingolani Eugenio et al. Trends in cardiovascular medicine 2018 Apr - Molecular Basis and Genetic Modifiers of Thalassemia.
Mettananda Sachith et al. Hematology/oncology clinics of North America 2018 Apr 32(2) 177-191 - Fitness Helps Prevent Heart Disease, Even for Those with Genetic Risk Factors
N Westman, Genome Magazine, Apr 2018 - National Stroke Awareness Month 2018: Stroke Can Happen to Anyone at Any Time
Focus on increasing awareness among adults ages 35 to 64 of stroke risk factors, signs, and symptoms - Gene therapy reduces need for transfusions in severe blood disorder
NIH Research Matters, May 1, 2018 - Challenges and Opportunities in Stroke Genetics.
Malik Rainer et al. Cardiovascular research 2018 Mar - Education of parents and providers is needed to optimize life-saving immunizations for children with sickle cell disease.
Long Sarah S et al. The Journal of pediatrics 2018 May 1963 - A Cost Analysis of Universal versus Targeted Cholesterol Screening in Pediatrics.
Smith Anna Jo et al. The Journal of pediatrics 2018 May 196201-207.e2 - Applicability of Precision Medicine Approaches to Managing Hypertension in Rural Populations.
Halladay Jacqueline R et al. Journal of personalized medicine 2018 Apr 8(2) - Living With COPD
- Doctors cure seven adult patients of sickle cell disease using stem cells
The Guardian, Apr 27, 2018 - Influence of APOA5 Locus on the Treatment Efficacy of Three Statins: Evidence From a Randomized Pilot Study in Chinese Subjects.
Hua Sha et al. Frontiers in pharmacology 2018 9352 - Opportunities and Challenges in Cardiovascular Pharmacogenomics: From Discovery to Implementation.
Roden Dan M et al. Circulation research 2018 Apr 122(9) 1176-1190 - Omics, Big Data, and Precision Medicine in Cardiovascular Sciences.
Lau Edward et al. Circulation research 2018 Apr 122(9) 1165-1168 - NIH statement on World Asthma Day 2018
NIH video: patients and scientists work together to advance asthma research.
Newborn Screening
- Newborn screening for proximal urea cycle disorders: Current evidence supporting recommendations for newborn screening.
Merritt J Lawrence et al. Molecular genetics and metabolism 2018 Apr - Genetic Counselors' Experience with and Opinions on the Management of Newborn Screening Incidental Carrier Findings.
Leppert Kristen et al. Journal of genetic counseling 2018 Apr - Delays in adding new newborn screening tests harm babies, families
R Moy et al, STatNews, Apr 30, 2018 - Early diagnosis from newborn screening maximises survival in severe cystic fibrosis.
Tridello Gloria et al. ERJ open research 2018 Apr 4(2) - Clinical and molecular profile of newborns with confirmed or suspicious congenital adrenal hyperplasia detected after a public screening program implementation.
Kopacek Cristiane et al. Jornal de pediatria 2018 Apr
Pharmacogenomics
- Deep learning in pharmacogenomics: from gene regulation to patient stratification.
Kalinin Alexandr A et al. Pharmacogenomics 2018 Apr - Pharmacogenomic Testing to Select Antiplatelet Therapy.
Price Matthew J et al. Journal of the American College of Cardiology 2018 May 71(17) 1878-1881 - Mindful Pharmacogenetics: Drug Dosing for Mental Health.
Stingl Julia C et al. The American journal of psychiatry 2018 May 175(5) 395-397 - Genetic testing for CYP2D6 and CYP2C19 suggests improved outcome for antidepressant and antipsychotic medication.
Walden Lucas M et al. Psychiatry research 2018 Mar - Clinical application of pharmacogenetics in pain management.
Smith D Max et al. Personalized medicine 2018 Mar 15(2) 117-126 - Beyond the didactic lecture: pharmacogenomics in pharmacy education.
Kisor David F et al. Personalized medicine 2018 Jan 15(1) 9-12 - Feasibility and implementation of CYP2C19 genotyping in patients using antiplatelet therapy.
Bergmeijer Thomas O et al. Pharmacogenomics 2018 Apr - What do we need to transfer pharmacogenetics findings into the clinic?
Slob Elise Ma et al. Pharmacogenomics 2018 May 19(7) 589-592 - Pharmacogenetics of Chemotherapy-Induced Cardiotoxicity.
Chang Vivian Y et al. Current oncology reports 2018 Apr 20(7) 52 - Genotype-guided warfarin therapy: current status.
Tavares Letícia C et al. Pharmacogenomics 2018 Apr - Implications of Pharmacogenomics to the Management of IBS.
Camilleri Michael et al. Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association 2018 Apr - Clinical Implementation of Pharmacogenetic Decision Support Tools for Antidepressant Drug Prescribing.
Zeier Zane et al. The American journal of psychiatry 2018 Apr appiajp201817111282
Reproductive Health
- The dilemma of aneuploidy screening on low responders.
Morin Scott J et al. Current opinion in obstetrics & gynecology 2018 Jun 30(3) 179-184 - Performance comparison of two whole genome amplification techniques in frame of multifactor preimplantation genetic testing.
Volozonoka Ludmila et al. Journal of assisted reproduction and genetics 2018 Apr - The impact of contemporary preimplantation genetic screening and diagnosis on the detection of aneuploidy and inherited genetic diseases.
Neal Shelby A et al. Birth defects research 2018 May 110(8) 644-647 - Noninvasive prenatal testing: a survey of young (future) parents in Flanders.
Borry Pascal et al. Personalized medicine 2018 Jan 15(1) 35-43 - Prenatal cell-free DNA screening test failures: a systematic review of failure rates, risks of Down syndrome, and impact of repeat testing
GE Palomaki et al, Genetics in Medicine, Apr 26, 2018 - Sensitivity of prenatal ultrasound for detection of trisomy 18.
Becker David A et al. The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2018 Apr 1-131
Tools/Databases
- The Genomics ADvISER: development and usability testing of a decision aid for the selection of incidental sequencing results.
Bombard Yvonne et al. European journal of human genetics : EJHG 2018 Apr
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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