Published on 02/25/2016
Human Genomics across the Lifespan
Birth Defects and Child Health
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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
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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) -
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 Disease
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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/Law
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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
Practice
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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 -
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
Heart, Lung, Blood and Sleep Diseases
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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
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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
Pharmacogenomics
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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
Reproductive Health
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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
News/ Reviews/Comments
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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 youll 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]