Health Impact Weekly Scan
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
- Clinical audit of genetic testing and referral patterns for fragile X and associated conditions.
Cotter Megan et al. American journal of medical genetics. Part A 2016 Feb - Applicability and Efficiency of NGS in Routine Diagnosis: In-Depth Performance Analysis of a Complete Workflow for CFTR Mutation Analysis.
Pagin Adrien et al. PloS one 11(2) e0149426 - Sample Confirmation Testing: A Short Tandem Repeat-Based Quality Assurance and Quality Control Procedure for the eyeGENE Biorepository.
Parrish Rebecca S et al. Biopreservation and biobanking 2016 Feb
Cancer
- Patient knowledge and information-seeking about personalized cancer therapy.
Rogith Deevakar et al. International journal of medical informatics 2016 Apr 8852-7 - Performance of the Breast Cancer Risk Assessment Tool Among Women Age 75 Years and Older.
Schonberg Mara A et al. Journal of the National Cancer Institute 2016 Mar 108(3) - Implementation of the 21-gene recurrence score test in the United States in 2011.
Lynch Julie A et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Feb - Awareness, Understanding, and Adoption of Precision Medicine to Deliver Personalized Treatment for Patients With Cancer: A Multinational Survey Comparison of Physicians and Patients.
Ciardiello Fortunato et al. The oncologist 2016 Feb - Incorporating genetic counseling into clinical care for children and adolescents with cancer.
Everett Jessica N et al. Future oncology (London, England) 2016 Feb - An open access pilot freely sharing cancer genomic data from participants in Texas.
Becnel Lauren B et al. Scientific data 2016 3160010 - Finding the needle in a haystack: identification of cases of Lynch syndrome with MLH1 epimutation.
Hitchins Megan P et al. Familial cancer 2016 Feb - Why Breast Cancer Risk by the Numbers Is Not Enough: Evaluation of a Decision Aid in Multi-Ethnic, Low-Numerate Women.
Kukafka Rita et al. Journal of medical Internet research 2015 17(7) e165 - Clinical Utility of a Bronchial Genomic Classifier in Patients with Suspected Lung Cancer.
Vachani Anil et al. Chest 2016 Feb - EGFR testing and clinical management of advanced NSCLC: a Galician Lung Cancer Group study (GGCP 048-10).
Vázquez Sergio et al. Cancer management and research 2016 811-20 - RealRisks,
Understanding Risk- Learn about what goes into breast cancer risk
Chronic Diseases
- Genetic Counseling and Testing for Alzheimer's Disease and Frontotemporal Lobar Degeneration: An Italian Consensus Protocol.
Bocchetta Martina et al. Journal of Alzheimer's disease : JAD 2016 Jan
Ethics, Policy and Law
- Screening Out Controversy: Human Genetics, Emerging Techniques of Diagnosis, and the Origins of the Social Issues Committee of the American Society of Human Genetics, 1964-1973.
Mitchell M X et al. Journal of the history of biology 2016 Feb - Health regulatory communications of well-established safety-related pharmacogenomics associations in six developed countries: an evaluation of alignment.
Tan-Koi W C et al. The pharmacogenomics journal 2016 Feb - Privacy and confidentiality measures in genetic testing and counselling: arguing on genetic exceptionalism again?
Witt Magdalena M et al. Journal of applied genetics 2016 Feb
Genomics in Practice
- KnowEnG: a knowledge engine for genomics.
Sinha Saurabh et al. Journal of the American Medical Informatics Association : JAMIA 2015 Nov 22(6) 1115-9 - Genetic Testing and the Workplace.
Lambertson Katherine et al. Genetic testing and molecular biomarkers 2016 Feb - Communicating genetic test results within the family: Is it lost in translation? A survey of relatives in the randomized six-step study.
Daly Mary B et al. Familial cancer 2016 Feb - The promise of personalised medicine.
Doble Brett et al. Lancet (London, England) 2016 Jan 387(10017) 433-4 - The NIH Big Data to Knowledge (BD2K) initiative.
Bourne Philip E et al. Journal of the American Medical Informatics Association : JAMIA 2015 Nov 22(6) 1114 - Cost Implications of Value-Based Pricing for Companion Diagnostic Tests in Precision Medicine.
Zaric Gregory S et al. PharmacoEconomics 2016 Feb - The NIH BD2K center for big data in translational genomics.
Paten Benedict et al. Journal of the American Medical Informatics Association : JAMIA 2015 Nov 22(6) 1143-7 - Impact of Genomic Counseling on Informed Decision-Making among ostensibly Healthy Individuals Seeking Personal Genome Sequencing: the HealthSeq Project.
Suckiel Sabrina A et al. Journal of genetic counseling 2016 Feb - Further Defining the Role of the Laboratory Genetic Counselor.
Waltman Lindsey et al. Journal of genetic counseling 2016 Feb - KnowEnG
Big data to Knowledge, Center of Excellence
Cardiovascular Diseases
- Exercise restrictions for patients with inherited cardiac conditions: Current guidelines, challenges and limitations.
Hammond-Haley Matthew et al. International journal of cardiology 2016 Feb 209234-241 - Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes.
Pua Chee Jian et al. Journal of cardiovascular translational research 2016 Feb
Newborn Screening
- Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism.
Scolamiero Emanuela et al. Molecular bioSystems 2015 Jun 11(6) 1525-35 - Evaluation of a neonatal screening program for sickle-cell disease.
Eller Rodrigo et al. Jornal de pediatria 2016 Feb - Newborn Screening for Sickle Cell Disease: Jamaican Experience.
Mason K et al. The West Indian medical journal 2015 Sep 65(1) - [Neonatal screening of severe combined immunodeficiencies].
Thomas C et al. Archives de pe´diatrie : organe officiel de la Socie´te franc¸aise de pe´diatrie 2015 Jun 22(6) 646-52
Reproductive Health
- Clinical Validation of a Non-Invasive Prenatal Test for Genome-Wide Detection of Fetal Copy Number Variants.
Lefkowitz Roy B et al. American journal of obstetrics and gynecology 2016 Feb - Survey of prenatal testing for genetic disorders in Japan: Recent report.
Nobuzane Takahiro et al. The journal of obstetrics and gynaecology research 2016 Feb
Pharmacogenomics
- Alcohol misuse, genetics, and major bleeding among warfarin therapy patients in a community setting.
Roth Joshua A et al. Pharmacoepidemiology and drug safety 2015 Jun 24(6) 619-27
News/Reviews/Commentaries
- Why men should check the family tree for ovarian, breast and prostate cancer,
Financial Review, February 23, 2016 - Scientists identify molecular link between sleep and mood,
by Claire Asher, Science Magazine, February 22, 2016 - ‘Bad genes’ may not mean you’ll get a disease,
by Andrew Porterfield, Genetic Literacy Project, February 18, 2016 - NCI-DOE Collaboration Paving Way for Large-Scale Computational Cancer Science,
by Warren Kibbe, NIH, February 17, 2016 - Florida family mourns loss of third child to inherited syndrome,
Fox News, February 16, 2016 - Own Your DNA,
by Greg Lennon, MIT Technology Review, February 23, 2016 - The medical mystery tour,
Stanford Medicine, Winter 2016 - Maryland House Legislators Introduce Bill on DTC Genetic Testing,
Genome Web, February 17, 2016 [by free subscription only]
CDC-Authored Genomics Publications
- Detection of Onchocerca volvulus in Skin Snips by Microscopy and Real-Time Polymerase Chain Reaction: Implications for Monitoring and Evaluation Activities.
Thiele Elizabeth A, Cama Vitaliano A, Lakwo Thomson, Mekasha Sindeaw, Abanyie Francisca, Sleshi Markos, Kebede Amha, Cantey Paul T The American journal of tropical medicine and hygiene 2016 2 0. . - Relationship Between Mean Leucocyte Telomere Length and Measures of Allostatic Load in US Reproductive-Aged Women, NHANES 1999-2002.
Ahrens Katherine A, Rossen Lauren M, Simon Alan E Paediatric and perinatal epidemiology 2016 2 0. . - What Makes a Bacterial Species Pathogenic?:Comparative Genomic Analysis of the Genus Leptospira.
Fouts Derrick E, Matthias Michael A, Adhikarla Haritha, Adler Ben, Amorim-Santos Luciane, Berg Douglas E, Bulach Dieter, Buschiazzo Alejandro, Chang Yung-Fu, Galloway Renee L, Haake David A, Haft Daniel H, Hartskeerl Rudy, Ko Albert I, Levett Paul N, Matsunaga James, Mechaly Ariel E, Monk Jonathan M, Nascimento Ana L T, Nelson Karen E, Palsson Bernhard, Peacock Sharon J, Picardeau Mathieu, Ricaldi Jessica N, Thaipandungpanit Janjira, Wunder Elsio A, Yang X Frank, Zhang Jun-Jie, Vinetz Joseph M PLoS neglected tropical diseases 2016 2 0. (2) e0004403. - Characterization of a Salivirus (Picornaviridae) from a Diarrheal Child in Guatemala.
Ng Terry Fei Fan, Magaña Laura, Montmayeur Anna, Lopez Maria Renee, Gregoricus Nicole, Oberste M Steven, Vinjé Jan, Nix W Allan Genome announcements 2016 0 0. (1) .
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