Publication Date: Jul 20, 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.
Human Genomics across the Lifespan
Birth Defects and Child Health
- Genome therapy could lead to new treatment for life-threatening blood disorders
Science Mag, July 17, 2017 - New Vertex drugs show dramatic gains for tough-to-treat cystic fibrosis patients
A Feuerstein, StatNews, July 18, 2017 - Emicizumab Prophylaxis in Hemophilia A with Inhibitors.
Oldenburg Johannes et al. The New England journal of medicine 2017 Jul - Using medical exome sequencing to identify the causes of neurodevelopmental disorders: experience of two clinical units and 216 patients.
Chérot E et al. Clinical genetics 2017 Jul - Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: outcomes from a cohort of 50 families.
Hartley Taila et al. Clinical genetics 2017 Jul - Gene changes may increase risk of Tourette syndrome
NIH Research Matters, July 2017
Cancer
- Analysis of molecular subtypes for the increased HER2 equivocal cases caused by application of the updated 2013 ASCO/CAP HER2 testing guidelines in breast cancer.
Guo Lei et al. Breast cancer research and treatment 2017 Jul - Clinical utility of a blood-based protein assay to increase screening of elevated-risk patients for colorectal cancer in the primary care setting.
Peabody John et al. Journal of cancer research and clinical oncology 2017 Jul - Cost Effectiveness of Risk-Reducing Mastectomy versus Surveillance in BRCA Mutation Carriers with a History of Ovarian Cancer.
Gamble Charlotte et al. Annals of surgical oncology 2017 Jul - Comparison of Oncotype DX® Recurrence Score® with other risk assessment tools including the Nottingham Prognostic Index in the identification of patients with low-risk invasive breast cancer.
Cotter Maura Bríd et al. Virchows Archiv : an international journal of pathology 2017 Jul - Cancer: A precision approach to tumour treatment
R Dienstmann et al, Nature News, July 19, 2017 - F.D.A. Panel Recommends Approval for Gene-Altering Leukemia Treatment
By Denise Grady, The New York Times, July 12, 2017 - Two-Drug Combination Approved for Lung Cancers with BRAF Mutations
NCI, July 18, 2017 - Germline Mutation Status, Pathological Complete Response, and Disease-Free Survival in Triple-Negative Breast Cancer: Secondary Analysis of the GeparSixto Randomized Clinical Trial.
Hahnen Eric et al. JAMA oncology 2017 Jul - Outsmarting Colon Cancer
J Erdmann, Genome Magazine, Summer 2017 - Australian recommendations for EGFR T790M testing in advanced non-small cell lung cancer.
John Thomas et al. Asia-Pacific journal of clinical oncology 2017 Jul - Cost-effectiveness of population based BRCA testing with varying Ashkenazi Jewish ancestry.
Manchanda Ranjit et al. American journal of obstetrics and gynecology 2017 Jul - Outcome of HER2 Testing by FISH applying ASCO/CAP 2007 and 2013 guideline in IHC equivocal group of breast cancer: Experience at tertiary cancer care centre.
Panigrahi Manoj Kumar et al. South Asian journal of cancer 6(2) 45-46 - Utilization of colonoscopy and colonoscopic findings among individuals aged 40-54 years with a positive family history of colorectal cancer: a cross-sectional study in general practice.
Plath Jasper et al. European journal of cancer prevention : the official journal of the European Cancer Prevention Organisation (ECP) 2017 Jul - CancerGD: A Resource for Identifying and Interpreting Genetic Dependencies in Cancer.
Bridgett Stephen et al. Cell systems 2017 Jul - [Clinical utility of real-time fluorescent PCR for combined detection of anaplastic lymphoma kinase and c-ros oncogene 1 receptor tyrosine kinase in non-small cell lung cancer].
Bai D Y et al. Zhonghua zhong liu za zhi [Chinese journal of oncology] 2016 Dec 38(12) 898-903 - Prostate Cancer Screening in a New Era of Genetics.
Cheng Heather H et al. Clinical genitourinary cancer 2017 May - Take Action to Lower Your Breast and Ovarian Cancer Risk.
- Draft Recommendation Statement: Ovarian Cancer Screening
US Preventive Services Task Force, July 2017 - Prognostic role of methylated GSTP1, p16, ESR1 and PITX2 in patients with breast cancer: A systematic meta-analysis under the guideline of PRISMA.
Sheng Xianneng et al. Medicine 2017 Jul 96(28) e7476 - Clinical Application of Targeted Deep Sequencing in Solid-Cancer Patients; Utility of Targeted Deep Sequencing for Biomarker-Selected Clinical Trial.
Kim Seung Tae et al. The oncologist 2017 Jul - Use of Biomarkers to Guide Decisions on Adjuvant Systemic Therapy for Women With Early-Stage Invasive Breast Cancer: American Society of Clinical Oncology Clinical Practice Guideline Focused Update.
Krop Ian et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2017 Jul JCO2017740472 - Genetic Biomarker Prevalence Is Similar in Fecal Immunochemical Test Positive and Negative Colorectal Cancer Tissue.
Levin Theodore R et al. Digestive diseases and sciences 2017 Mar 62(3) 678-688 - Genetic Testing for Hereditary Nonpolyposis Colorectal Cancer (HNPCC).
Nallamilli Babi Ramesh Reddy et al. Current protocols in human genetics 2017 Jul 9410.12.1-10.12.23 - The current value of determining the mismatch repair status of colorectal cancer: A rationale for routine testing.
Ryan E et al. Critical reviews in oncology/hematology 2017 Aug 11638-57 - Rapid genetic counseling and testing in newly diagnosed breast cancer: Patients' and health professionals' attitudes, experiences, and evaluation of effects on treatment decision making.
Wevers Marijke R et al. Journal of surgical oncology 2017 Jul
Chronic Disease
- Genetics of obesity.
Campbell Am Lesley V et al. Australian family physician 2017 46(7) 456-459 - COPD National Action Plan
NHLBI, 2017 - National Diabetes Statistics Report
CDC, July 2017 - Obesity and microbiota: an example of an intricate relationship.
Duranti Sabrina et al. Genes & nutrition 2017 1218 - Cost and yield considerations when expanding recruitment for genetic studies: the primary open-angle African American glaucoma genetics study.
Salowe Rebecca et al. BMC medical research methodology 2017 Jul 17(1) 101 - The effect of CYP3A5 genetic polymorphisms on adverse events in patients with ulcerative colitis treated with tacrolimus.
Asada Ayumi et al. Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver 2017 Jan 49(1) 24-28
Ethics/Policy/Law
- Big data's big bias: bringing noise and conflicts to US drug regulation.
Lenzer Jeanne et al. BMJ (Clinical research ed.) 2017 Jul 358j3275 - A new era in the interpretation of human genomic variation
Science Mag, July 17, 2017 - Sharing Clinical Research Data-Finding the Right Balance.
Lo Bernard et al. JAMA internal medicine 2017 Jul - Opening Pandora's box?: ethical issues in prenatal whole genome and exome sequencing.
Horn Ruth et al. Prenatal diagnosis 2017 Jul - Direct-to-Consumer Genetic Testing and Orphan Drug Development.
Mason Matthew et al. Genetic testing and molecular biomarkers 2017 Jul
Practice
- Finding the Rare Pathogenic Variants in a Human Genome.
Evans James P et al. JAMA 2017 317(18) 1904-1905 - Communication of Information about Genetic Risks: Putting Families at the Center.
Mendes Álvaro et al. Family process 2017 Jul - An Evidence Framework for Genetic Testing.
Terry Sharon F et al. Genetic testing and molecular biomarkers 2017 Jul 21(7) 407-408 - f-treeGC: a questionnaire-based family tree-creation software for genetic counseling and genome cohort studies.
Tokutomi Tomoharu et al. BMC medical genetics 2017 Jul 18(1) 71 - Davies, S.C. "Annual Report of the Chief Medical Officer 2016, Generation Genome London: Department of Health (2017)"[PDF 4.84 MB]
- 'Scientific wellness’ study—and a famed biologist’s spinoff company—divide researchers
R Cross, Science, July 19, 2017 - Public genomes: the future of the NHS?
Lancet, July 15, 2017 - Scientists Are Fed Up with Absurd Genetic Tests
M Humphrey, Frontline Genomics, July 17, 2017 - What to know about DNA testing kits
K Nichols, ABC News, July 13, 2017 - A Report on Ten Asia Pacific Countries on Current Status and Future Directions of the Genetic Counseling Profession: The Establishment of the Professional Society of Genetic Counselors in Asia.
Laurino Mercy Y et al. Journal of genetic counseling 2017 Jul - Transparency of genetic testing services for 'health, wellness and lifestyle': analysis of online prepurchase information for UK consumers.
Hall Jacqueline A et al. European journal of human genetics : EJHG 2017 Aug 25(8) 908-917 - Scientists Push Back Against Booming Genetic Pseudoscience Market
KV Brown, Gizmodo, July 14, 2017 - Integrating Genomics into Public Health Surveillance: Ushering in a New Era of Precision Public Health
MJ Khoury, blog post, July 19, 2017 - Ethical, social, and cultural issues related to clinical genetic testing and counseling in low- and middle-income countries: protocol for a systematic review.
Zhong Adrina et al. Systematic reviews 2017 Jul 6(1) 140
Cardiovascular Diseases
- The Cost-effectiveness of Genetic Screening for Familial Hypercholesterolemia: a Systematic Review.
Rosso A et al. Annali di igiene : medicina preventiva e di comunita 29(5) 464-480 - Is ANGPTL3 a Target to Reduce Cardiovascular Risk?
NEJM video, July 18, 2017, - Uptake of Predictive Genetic Testing and Cardiac Evaluation for Children at Risk for an Inherited Arrhythmia or Cardiomyopathy.
Christian Susan et al. Journal of genetic counseling 2017 Jul - Biomarkers of stroke recovery: Consensus-based core recommendations from the Stroke Recovery and Rehabilitation Roundtable.
Boyd Lara A et al. International journal of stroke : official journal of the International Stroke Society 2017 Jul 12(5) 480-493
Newborn Screening
- Baby Genome Sequencing for Sale in China
A Regalado, MIT Review, June, 2017 - Presymptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn Screening.
Chien Yin-Hsiu et al. The Journal of pediatrics 2017 Jul - Idiopathic T cell lymphopenia identified in New York State Newborn Screening.
Albin-Leeds Stephanie et al. Clinical immunology (Orlando, Fla.) 2017 Jul
Pharmacogenomics
- Road to Recovery: New personalized treatments and technologies are helping people free themselves from opioid addiction.
Genome Magazine, Summer 2017 - A cost-effectiveness analysis of maternal CYP2D6 genetic testing to guide treatment for postpartum pain and avert infant adverse events.
Moretti M E et al. The pharmacogenomics journal 2017 Jul - Pharmacogenomics Implementation: Considerations for Selecting a Reference Laboratory.
Vo Teresa T et al. Pharmacotherapy 2017 Jul
Reproductive Health
- Finding Middle Ground in Constructing a Clinically Useful Expanded Carrier Screening Panel.
Stevens Blair et al. Obstetrics and gynecology 2017 Jul - Clinical Experience with a Single-Nucleotide Polymorphism-Based Noninvasive Prenatal Test for Five Clinically Significant Microdeletions.
Martin Kimberly et al. Clinical genetics 2017 Jul - Direct-to-consumer DNA testing: the fallout for individuals and their families unexpectedly learning of their donor conception origins.
Crawshaw Marilyn et al. Human fertility (Cambridge, England) 2017 Jul 1-4 - Patients' Knowledge of Prenatal Screening for Trisomy 21.
Sheinis Michal et al. Journal of genetic counseling 2017 Jul - The role of experiential knowledge within attitudes towards genetic carrier screening: A comparison of people with and without experience of spinal muscular atrophy.
Boardman Felicity K et al. Health expectations : an international journal of public participation in health care and health policy 2017 Jul
Funding
- Ethical, Legal, and Social Implications (ELSI) of Genomics Research Project Grant Program (R01),
NIH, July 10, 2017 - NIH to Fund Studies Examining Implications of Genome Research,
Genome Web, July 17, 2017 - Ethical, Legal, and Social Implications (ELSI) of Genomics Exploratory/Developmental Research Grant Program (R21),
NIH, July 10, 2017 - Ethical, Legal, and Social Implications (ELSI) of Genomics Small Research Grant Program (R03),
NIH, July 10, 2017
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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