Publication Date: Mar 8, 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
- Key Findings: Tourette Syndrome, Other Conditions, and School Measures
NCBDDD, Mar 2018 - Back On Her Feet After Five Surgeries
Ivanhoe Broadcast News, Feb 2018 - Progress in Genetic Studies of Tourette's Syndrome.
Qi Yanjie et al. Brain sciences 2017 Oct 7(10) - Building a Bridge Between Genetics and Outcomes Research: Application in Autism (The AutGO Study).
Talebizadeh Zohreh et al. The patient 2018 Mar - Attitudes of stakeholders in psychiatry towards the inclusion of children in genomic research.
Sundby Anna et al. Human genomics 2018 Mar 12(1) 12 - ECFS best practice guidelines: the 2018 revision.
Castellani Carlo et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2018 Mar - Precision public health: mapping child mortality in Africa.
Davey Gail et al. Lancet (London, England) 2017 Nov 390(10108) 2126-2128
Cancer
- Jury out on liquid biopsies for cancer
N Ratner, Nat Biotechnology, Mar 2018 - FDA Approves Consumer BRCA Test, And We Take Another Step Into The Brave New World Of Genomics
American Cancer Society Blog, Mar 6, 2018 - Landscapes of childhood tumours
Nature News and Views, Feb 2018 - Prevent Colorectal Cancer: We Can Do It!
CA Gelb, CDC blog post, Mar 1, 2018 - Genetic profiling using plasma-derived cell-free DNA in therapy-naïve hepatocellular carcinoma patients: a pilot study.
Ng C K Y et al. Annals of oncology : official journal of the European Society for Medical Oncology 2018 Mar - Molecular markers and new diagnostic methods to differentiate malignant from benign mesothelial pleural proliferations: a literature review.
Bruno Rossella et al. Journal of thoracic disease 2018 Jan 10(Suppl 2) S342-S352 - Analysis of a gene panel for targeted sequencing of colorectal cancer samples.
Jensen Klaus Højgaard et al. Oncotarget 2018 Feb 9(10) 9043-9060 - Pharmacogenetics of toxicity of 5-fluorouracil, doxorubicin and cyclophosphamide chemotherapy in breast cancer patients.
Tecza Karolina et al. Oncotarget 2018 Feb 9(10) 9114-9136 - Standardizing biomarker testing for Canadian patients with advanced lung cancer.
Melosky B et al. Current oncology (Toronto, Ont.) 2018 Feb 25(1) 73-82 - Inherited DNA-Repair Defects in Colorectal Cancer.
AlDubayan Saud H et al. American journal of human genetics 2018 Mar 102(3) 401-414 - Risk management decisions in women with BRCA1 and BRCA2 mutations.
Morgan Rosemary et al. American journal of surgery 2018 Feb - Targeted exome sequencing and chromosomal microarray for the molecular diagnosis of nevoid basal cell carcinoma syndrome.
Matsudate Yoshihiro et al. Journal of dermatological science 2017 Jun 86(3) 206-211 - Circulating Tumor DNA Analysis in Patients With Cancer: American Society of Clinical Oncology and College of American Pathologists Joint Review
JD Merker et al, JCO, Mar 2018 - Targeted next generation sequencing identified clinically actionable mutations in patients with esophageal sarcomatoid carcinoma.
Lu Hongyang et al. BMC cancer 2018 Mar 18(1) 251 - A population-based analysis of germline BRCA1 and BRCA2 testing among ovarian cancer patients in an era of histotype-specific approaches to ovarian cancer prevention.
Hanley Gillian E et al. BMC cancer 2018 Mar 18(1) 254 - Prognostic Biomarker Identification Through Integrating the Gene Signatures of Hepatocellular Carcinoma Properties.
Cai Jialin et al. EBioMedicine 2017 May 1918-30 - A counseling framework for moderate-penetrance colorectal cancer susceptibility genes.
Katona Bryson W et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Mar - Tumor PIK3CA Genotype and Prognosis in Early-Stage Breast Cancer: A Pooled Analysis of Individual Patient Data.
Zardavas Dimitrios et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2018 Feb JCO2017748301 - How common are BRCA mutations?
Dana Farber Blog, Mar 1, 2018 - Efficacy, Tolerability, and Biomarker Analyses of Once-Every-2-Weeks Cetuximab Plus First-Line FOLFOX or FOLFIRI in Patients With KRAS or All RAS Wild-Type Metastatic Colorectal Cancer: The Phase 2 APEC Study.
Cheng Ann-Lii et al. Clinical colorectal cancer 2017 Jun 16(2) e73-e88 - Quality of Life Analysis in Patients With RAS Wild-Type Metastatic Colorectal Cancer Treated With First-Line Cetuximab Plus Chemotherapy.
Yamaguchi Kensei et al. Clinical colorectal cancer 2017 Jun 16(2) e29-e37 - Toward Molecularly Driven Precision Medicine in Lung Adenocarcinoma.
Liu David et al. Cancer discovery 2017 7(6) 555-557 - Prospective Comprehensive Molecular Characterization of Lung Adenocarcinomas for Efficient Patient Matching to Approved and Emerging Therapies.
Jordan Emmet J et al. Cancer discovery 2017 7(6) 596-609 - Genome-wide meta-analysis identifies five new susceptibility loci for pancreatic cancer.
Klein Alison P et al. Nature communications 2018 Feb 9(1) 556 - Awareness and Misconceptions of Breast Cancer Risk Factors Among Laypersons and Physicians.
Morère Jean-François et al. Current oncology reports 2018 Mar 20(Suppl 1) 15 - Evaluating and improving the implementation of a community-based hereditary cancer screening program.
Greenberg Samantha et al. Journal of community genetics 2018 Mar - Clinicians' use of breast cancer risk assessment tools according to their perceived importance of breast cancer risk factors: an international survey.
Brédart Anne et al. Journal of community genetics 2018 Mar - Five genetic changes linked to pancreatic cancer risk
Z Kassam, Drug Target Review, Feb 2018 - March Monthly News & Updates
Forcing Our Risk Empowered, March 2018 - When it comes to home cancer tests, think before you spit
K Painter, USA Today, Mar 8, 2018
Chronic Disease
- National Chronic Kidney Disease Fact Sheet 2017
CDC, Mar 2018 - “Well, good luck with that”: reactions to learning of increased genetic risk for Alzheimer disease
D Zallen, Genetics in Medicine, Mar 8, 2018 - Diabetes is actually five separate diseases, research suggests
J Gallagher, BBC News, Mar 2, 2018 - Genetic syndromes of severe insulin resistance.
Melvin A et al. Current opinion in genetics & development 2018 Feb 5060-67 - Progress in defining the genetic contribution to type 2 diabetes susceptibility.
Morris Andrew P et al. Current opinion in genetics & development 2018 Feb 5041-51 - The Role of Lipoprotein(a) in Chronic Kidney Disease.
Hopewell Jemma C et al. Journal of lipid research 2018 Jan - National Kidney Month
NIDDK, Mar 2018
Ethical, Legal and Social Issues (ELSI)
- FDA authorizes, with special controls, direct-to-consumer test that reports three mutations in the BRCA breast cancer genes,
FDA, March 6, 2018 - FDA approves new direct to consumer genetic test for 3 BRCA mutations
FORCE, Mar 6, 2018 - Tearing down the walls: FDA approves next generation sequencing (NGS) assays for actionable cancer genomic aberrations.
Allegretti Matteo et al. Journal of experimental & clinical cancer research : CR 2018 Mar 37(1) 47 - Genetics and Justice: Must One Theory Fit All Contexts?
Gunson Darryl et al. Cambridge quarterly of healthcare ethics : CQ : the international journal of healthcare ethics committees 2018 Apr 27(2) 250-260 - 23andMe Will Now Test for BRCA Breast-Cancer Genes It's the first FDA-authorized genetic-cancer-risk test available without a doctor's note.
S Zhang, The Atlantic, Mar 6, 2018 - NSGC Responds to U.S. Food and Drug Administration Approval of Direct-to-Consumer Cancer Test that Reports Three BRCA Mutations
NSGC, Mar 6, 2018
General Practice
- The Role of Cost-Effectiveness Analysis in Precision Medicine and Public Health Genomics
CDC Public Health Genomics Webinar, March 27, 2018 - How genomics is changing nursing
Genomics Education UK, Mar 7, 2018 - NIH pilot project will match researchers to genes, gene variants of interest
NIH News Release, Mar 1, 2018 - Dear John, There’s no point in waiting any longer. Let’s call it quits…
S Bowen et al, CDC Blog, Mar 7, 2018 - We need to reach a common understanding about real world data
L Annemans, BMJ Blog, Mar 6, 2018 - Strategic Plan for Data Science
Request for Information (RFI): Soliciting Input for the National Institutes of Health (NIH), March 2018 - Can Meditation Change Your Genes?
S Begley, Mindful, Feb 2018 - Meta-analysis and the science of research synthesis
J Gurevitch et al, Nature, Mar 7, 2018 - Will Personalized Medicine Mean Higher Costs for Consumers?
M Geruso et al, Harvard Business Review, Mar 1, 2018 - Precision maps for public health.
Reich Brian J et al. Nature 2018 Mar 555(7694) 32-33 - Genetics for your whole life
Editorial, Nature Genetics, Mar 5, 2018 - The Downside of Precision Medicine
Genome Web, Mar 1, 2018 - Effects of Diet on Telomere Length: Systematic Review and Meta-Analysis.
Pérez Lisiane Marçal et al. Public health genomics 2018 Feb - Tackling e-health literacy
LM Martinez, Public Health Matters Blog, March 2018 - Work in Progress: Classifying Evidence-based Genomic Applications for Practice and Prevention
D Dotson et al, CDC Blog Post, Mar 2018 - Using Genetic Risk Scores in the Prevention and Control of Common Diseases: Opportunities and Challenges
CDC-NIH webinar, May 9, 2018 - Movement of Genetic Counselors from Clinical to Non-clinical Positions: Identifying Driving Forces.
Cohen Stephanie A et al. Journal of genetic counseling 2018 Mar - Preventing Dangerous CRISPR Errors
Frontline Genomics, Mar 1, 2018 - Artificial Intelligence in Medical Practice: The Question to the Answer?
Miller D Douglas et al. The American journal of medicine 2018 Feb 131(2) 129-133 - Artificial Intelligence, Physiological Genomics, and Precision Medicine.
Williams Anna Marie et al. Physiological genomics 2018 Jan - Public Health Masterclass in Genomics
Genomics Education Program 5 Video, Mar 2018 - Big Data’s Role in Precision Public Health
S Dolley, Frontiers in Public Health, Mar 8, 2018 - Data can help to end malnutrition across Africa
K Anan, Nature, Feb 2018 - World's largest family tree reveals environment's influence on lifespan
EC Hayden, Nature News, Mar 1, 2018 - Answers to patients' top 5 questions on All of Us Research Program
B Murphy, AMA, Feb 26, 2018 - Should personal genomics be a standard healthcare procedure?
By Anya Rakhecha and Jeffrey To, the Varsiety, March 5, 2018 - Should public health leaders get on the genomics train?
CM McBride, OUP blog, Feb 2018
Heart, Lung, Blood and Sleep Diseases
- PCSK9 inhibitor valuation: A science-based review of the two recent models
SJ Baum et al, Clinical Cardiology, Mar 7, 2018 - PCSK9 inhibitors in clinical practice: Delivering on the promise?
Atherosclerosis, Mar 2018 - Beyond fitness tracking: The use of consumer-grade wearable data from normal volunteers in cardiovascular and lipidomics research.
Lim Weng Khong et al. PLoS biology 2018 Feb 16(2) e2004285 - Embedding patient experience at the heart of rare disease research
Genomics England, Feb 28, 2018 - Toward an effective exome-based genetic testing strategy in pediatric dilated cardiomyopathy
Heckert JC et al, Genetics in Medicine, Mar 8, 2018 - A large electronic-health-record-based genome-wide study of serum lipids.
Hoffmann Thomas J et al. Nature genetics 2018 Mar - A systematic review of genetic mutations in pulmonary arterial hypertension.
Garcia-Rivas Gerardo et al. BMC medical genetics 2017 18(1) 82 - Molecular diagnosis of familial hypercholesterolaemia.
Graham Colin A et al. Current opinion in lipidology 2017 Aug 28(4) 313-320 - Tell me once, tell me soon: parents' preferences for clinical genetics services for congenital heart disease.
Kasparian Nadine A et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Mar - Pathways to pulmonary hypertension in sickle cell disease: the search for prevention and early intervention.
Shilo Natalie R et al. Expert review of hematology 2017 10(10) 875-890 - Precision medicine in pulmonary hypertension: Start with the end (point).
Mathai Stephen C et al. International journal of cardiology 2018 Apr 257339-340
Pharmacogenomics
- Opioid Overdoses Treated in Emergency Departments
CDC Vital Signs, Mar 6, 2018 - Effects of cytochrome P450 single nucleotide polymorphisms on methadone metabolism and pharmacodynamics.
Ahmad Taha et al. Biochemical pharmacology 2018 Feb - Impact of CYP2C19 Polymorphisms on Clinical Outcomes and Antiplatelet Potency of Clopidogrel in Caucasian Poststroke Survivors.
Tomek Ale? et al. American journal of therapeutics 25(2) e202-e212 - Artificial intelligence: Will a machine pick your next medication?
S Buckles, Mayo Clinic Blogs, Jan 2018
Eventr
- The Role of Cost-Effectiveness Analysis in Precision Medicine and Public Health Genomics
CDC Public Health Genomics Webinar, March 27, 2018
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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