Publication Date: Nov 2, 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
- Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns
AH Li et al, Genome Medicine, Oct 2017 - My "Orphan Disease’ Has Given Me a New Family
R Garland-Thomson, New York Times, Oct 26, 2017 - National Birth Defects Prevention Month
National Birth Defects Prevention Network - Emerging Monogenic Complex Hyperkinetic Disorders.
Carecchio Miryam et al. Current neurology and neuroscience reports 2017 Oct 17(12) 97 - Gene therapy’s new hope: A neuron-targeting virus is saving infant lives
J Kaiser, Science, Nov 1, 2017 - Two New Ways to Treat A Deadly Disease: Spinal Muscular Atrophy
R Lewis, PLOS Blogs, Nov 2, 2017 - Clinical efficacy of a next-generation sequencing gene panel for primary immunodeficiency diagnostics.
Rae W et al. Clinical genetics 2017 Oct - Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases.
Ellingford Jamie M et al. Journal of medical genetics 2017 Oct - The Genetic Counselor in the Pediatric Arrhythmia Clinic: Review and Assessment of Services.
Helm Benjamin M et al. Journal of genetic counseling 2017 Oct
Cancer
- Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants
AH Buchanan et al, Genetics in Medicine, Oct 26, 2017 - Electronic Health Record Phenotypes for Precision Medicine: Perspectives and Caveats from Treatment of Breast Cancer at a Single Institution.
Breitenstein Matthew K et al. Clinical and translational science 2017 Oct - Genomic studies track early hints of cancer
H Ledford, Nature News, Oct 27, 2017 - Exploring the potential cost-effectiveness of precision medicine treatment strategies for diffuse large B-cell lymphoma.
Chen Qiushi et al. Leukemia & lymphoma 2017 Oct 1-10 - Li-Fraumeni Syndrome Disease Model: A Platform to Develop Precision Cancer Therapy Targeting Oncogenic p53.
Zhou Ruoji et al. Trends in pharmacological sciences 2017 Oct 38(10) 908-927 - [Precision Oncology and "Molecular Tumor Boards" - Concepts, Chances and Challenges].
Holch Julian Walter et al. Deutsche medizinische Wochenschrift (1946) 2017 Nov 142(22) 1676-1684 - HER2-positive breast cancer is lost in translation: time for patient-centered research.
Gingras Isabelle et al. Nature reviews. Clinical oncology 2017 Nov 14(11) 669-681 - Cell-Free DNA in Oncology: Gearing up for Clinic.
Ulrich Bryan C et al. Annals of laboratory medicine 2018 Jan 38(1) 1-8 - Prognostic value of KRAS codon 13 gene mutation for overall survival in colorectal cancer: Direct and indirect comparison meta-analysis.
Kwak Min Seob et al. Medicine 2017 Sep 96(35) e7882 - The Role of Proteomic Testing in Improving Prognosis And Care Planning Quality Measures for Lung Cancer.
Page Ray D et al. Managed care (Langhorne, Pa.) 2017 Sep 26(9) 37-47 - Colorectal Cancer Screening in the Non-Syndromic Familial Risk Population: Is It Time to Revise the Clinical Guidelines?
Quintero Enrique et al. The American journal of gastroenterology 2017 Oct - The yield of targeted genotyping for the recurring mutations in BRCA1/2 in Israel.
Bernstein-Molho Rinat et al. Breast cancer research and treatment 2017 Oct - Precision oncology using a clinician-directed, tailored approach to molecular profiling.
Lam Michael et al. Asia-Pacific journal of clinical oncology 2017 Oct - Germline mutations in BRCA1 and BRCA2 incidentally revealed in a biobank research study: experiences from re-contacting mutation carriers and relatives.
Nilsson Martin P et al. Journal of community genetics 2017 Oct - 'I'm Permanently Damaged.' Woman Sues After She Says Doctors Unnecessarily Removed Her Breasts and Uterus
Doctors misread here genetic test results. J Ducharme, Time, Oct, 2017 - Association of 70-Gene Signature Assay Findings With Physicians' Treatment Guidance for Patients With Early Breast Cancer Classified as Intermediate Risk by the 21-Gene Assay.
Tsai Michaela et al. JAMA oncology 2017 Oct e173470 - HSD3B1 Genotype and Outcomes With ADT After Radiotherapy for Localized Prostate Cancer
ASCO Post, Nov 1, 2017 - Location of mutation in BRCA2 gene and survival in patients with ovarian cancer.
Labidi-Galy S Intidhar et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2017 Oct - Cost-effectiveness evaluation of pre-counseling telephone interviews before face-to-face genetic counseling in cancer genetics.
Collet Gaëlle et al. Familial cancer 2017 Oct - Comment on "Can Breast Surgeons Provide Breast Cancer Genetic Testing? An American Society of Breast Surgeons Survey".
Cragun Deborah et al. Annals of surgical oncology 2017 Oct - Prospective feasibility trial for genomics-informed treatment in recurrent and progressive glioblastoma.
Byron Sara A et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2017 Oct - The Role of Genetic Counseling in Familial and Sporadic Cancer: Considerations, Challenges, and Collaboration.
Giri Veda N et al. Annals of internal medicine 2017 Oct - A Comprehensive Review of Sequencing and Combination Strategies of Targeted Agents in Metastatic Colorectal Cancer.
Ciombor Kristen K et al. The oncologist 2017 Oct
Chronic Disease
- Six Tips for Healthy Aging Include Knowing Your Family History
- Loving Someone With Epilepsy
E Sharmin, Public Health Matters Blog, Nov 1, 2017 - Pharmacogenetics and the treatment of asthma.
Isidoro-García María et al. Pharmacogenomics 2017 Aug 18(13) 1271-1280 - Testing positive for a genetic predisposition to depression magnifies retrospective memory for depressive symptoms.
Lebowitz Matthew S et al. Journal of consulting and clinical psychology 2017 Nov 85(11) 1052-1063 - Towards personalized therapy for multiple sclerosis: prediction of individual treatment response.
Kalincik Tomas et al. Brain : a journal of neurology 2017 Sep 140(9) 2426-2443 - Genetic Risk Scores for Type 1 Diabetes Prediction and Diagnosis.
Redondo Maria J et al. Current diabetes reports 2017 Oct 17(12) 129 - It's Your Life. Treat Your Diabetes Well
- The environment, epigenome, and asthma.
Yang Ivana V et al. The Journal of allergy and clinical immunology 2017 Jul 140(1) 14-23
Ethics/Policy/Law
- Gene-Editing: Interpretation of Current Law and Legal Policy.
Kim Na-Kyoung et al. Development & reproduction 2017 Sep 21(3) 343-349 - Public trust and 'ethics review' as a commodity: the case of Genomics England Limited and the UK's 100,000 genomes project.
Samuel Gabrielle Natalie et al. Medicine, health care, and philosophy 2017 Oct - National Society of Genetic Counselors Code of Ethics: Explication of 2017 Revisions.
Senter Leigha et al. Journal of genetic counseling 2017 Oct - National Society of Genetic Counselors Code of Ethics.
et al. Journal of genetic counseling 2017 Oct - Online Education and e-Consent for GeneScreen, a Preventive Genomic Screening Study.
Cadigan R Jean et al. Public health genomics 2017 Oct - EXAMINING EVIDENCE IN U.S. PAYER COVERAGE POLICIES FOR MULTI-GENE PANELS AND SEQUENCING TESTS.
Chambers James D et al. International journal of technology assessment in health care 2017 Oct 1-7 - An Assessment of a Shortened Consent Form for the Storage and Research Use of Residual Newborn Screening Blood Spots.
Rothwell Erin et al. Journal of empirical research on human research ethics : JERHRE 2017 Oct 1556264617736199
Practice
- The Evolution of Patient Diagnosis From Art to Digital Data-Driven Science
KD Mandl et al, JAMA, Oct 26, 2017 - Can learning health systems help organisations deliver personalised care?
Nwaru Bright I et al. BMC medicine 2017 Oct 15(1) 177 - Committee Opinion No. 724: Consumer Testing for Disease Risk.
et al. Obstetrics and gynecology 2017 130(5) e270-e273 - Analysis commons, a team approach to discovery in a big-data environment for genetic epidemiology.
Brody Jennifer A et al. Nature genetics 2017 Oct 49(11) 1560-1563 - eMERGE & Beyond: The Future of Electronic Medical Records and Genomics
NHGRI, Oct 30, 2017 - The who, what, and why of research participants' intentions to request a broad range of secondary findings in a diagnostic genomic sequencing study
C Rini et al, Genetics in Medicine, Oct 26, 2017 - Anticipating the wave of H3Africa genomic data
M Ramsay, global health, epidemiology & genomics, Oct 24, 2017 - Precision Medicine and Health Disparities The Promise and Perils of Emerging Technologies
View 1 hour CDC-NIH Webinar, October 2017 - Big Data and Population Health: Focusing on the Health Impacts of the Social, Physical, and Economic Environment.
Hu Howard et al. Epidemiology (Cambridge, Mass.) 2017 Nov 28(6) 759-762 - "Not pathogenic until proven otherwise": perspectives of UK clinical genomics professionals toward secondary findings in context of a Genomic Medicine Multidisciplinary Team and the 100,000 Genomes Project
E Onrmondroyd et al, genetics in Medicine, Oct 26, 2017 - Precisely practicing medicine with a trillion points of data. | Atul Butte | TEDxSanFrancisco
Atul Butte | TEDxSanFrancisco, Oct 2017 - Medicine's future?
Trivedi Bijal P et al. Science (New York, N.Y.) 2017 Oct 358(6362) 436-440 - Vulnerabilities of transcriptome-wide association studies
M Wainsberg et al, BioRXiv, Oct 2017 - Genetic Counselor Awareness Day
National Society of Genetic Counselors, November 2017 - The current state of funded NIH grants in implementation science in genomic medicine: a portfolio analysis
Roberts MC et al, Genetics in Medicine, Oct 26, 2017 - Precision medicine needs pioneering clinical bioinformaticians.
Gómez-López Gonzalo et al. Briefings in bioinformatics 2017 Oct - Improving Direct-to-Consumer Medical Testing.
Gronowski Ann M et al. JAMA 2017 318(16) 1613 - PCPs Can Manage Genomic Results but Clinical Utility Is Limited.
Slomski Anita et al. JAMA 2017 Oct 318(16) 1532
Cardiovascular Diseases
- The continuing challenge of familial hypercholesterolaemia.
Patel Riyaz S et al. European heart journal. Quality of care & clinical outcomes 2017 Oct 3(4) 253-255 - Exome chip meta-analysis identifies novel loci and East Asian-specific coding variants that contribute to lipid levels and coronary artery disease.
Lu Xiangfeng et al. Nature genetics 2017 Oct - Application of Multigene Panel Sequencing in Patients with Prolonged Rate-corrected QT Interval and No Pathogenic Variants Detected in KCNQ1, KCNH2, and SCN5A.
Seo Soo Hyun et al. Annals of laboratory medicine 2018 Jan 38(1) 54-58 - Large-scale phenome-wide association study of PCSK9 loss-of-function variants demonstrates protection against ischemic stroke
AC Rao et al, BioRXiv preprints, Oct 2017 - An enquiry based on a standardised questionnaire into knowledge, awareness and preferences concerning the care of familial hypercholesterolaemia among primary care physicians in the Asia-Pacific region: the "Ten Countries Study".
Pang Jing et al. BMJ open 2017 Oct 7(10) e017817 - Epigenetics and precision medicine in cardiovascular patients: from basic concepts to the clinical arena.
Costantino Sarah et al. European heart journal 2017 Oct - Health disparities among adult patients with a phenotypic diagnosis of familial hypercholesterolemia in the CASCADE-FH? patient registry.
Amrock Stephen M et al. Atherosclerosis 2017 Oct 26719-26
Newborn Screening
- Provision of information about newborn screening antenatally: a sequential exploratory mixed-methods project.
Ulph Fiona et al. Health technology assessment (Winchester, England) 2017 Oct 21(55) 1-240 - Whole exome and whole genome sequencing with dried blood spot DNA without whole genome amplification.
Bassaganyas Laia et al. Human mutation 2017 Oct
Pharmacogenomics
- The role of depression pharmacogenetic decision support tools in shared decision making.
Arandjelovic Katarina et al. Journal of neural transmission (Vienna, Austria : 1996) 2017 Oct - Prediction of Response to Irinotecan and Drug Toxicity Based on Pharmacogenomics Test: A Prospective Case Study in Advanced Colorectal Cancer
Emami A H et al. Asian Pacific journal of cancer prevention : APJCP 2017 18(10) 2803-2807
Reproductive Health
- Women's Understanding and Attitudes towards Down Syndrome and Other Genetic Conditions in the Context of Prenatal Screening.
Long Sarah et al. Journal of genetic counseling 2017 Oct - The establishment and application of preimplantation genetic haplotyping in embryo diagnosis for reciprocal and Robertsonian translocation carriers.
Zhang Shuo et al. BMC medical genomics 2017 Oct 10(1) 60
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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